Incidental Mutation 'R4785:Rif1'
| ID |
366908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rif1
|
| Ensembl Gene |
ENSMUSG00000036202 |
| Gene Name |
replication timing regulatory factor 1 |
| Synonyms |
6530403D07Rik, 5730435J01Rik, D2Ertd145e |
| MMRRC Submission |
042417-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4785 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
52072832-52122383 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52112747 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 2071
(V2071A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069794]
[ENSMUST00000112693]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069794
AA Change: V2071A
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000064155
Gene: ENSMUSG00000036202
AA Change: V2071A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rif1_N
|
22 |
368 |
3.3e-78 |
PFAM |
|
low complexity region
|
432 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
598 |
N/A |
INTRINSIC |
|
low complexity region
|
1018 |
1038 |
N/A |
INTRINSIC |
|
low complexity region
|
1180 |
1205 |
N/A |
INTRINSIC |
|
low complexity region
|
1310 |
1321 |
N/A |
INTRINSIC |
|
low complexity region
|
1423 |
1446 |
N/A |
INTRINSIC |
|
low complexity region
|
1576 |
1586 |
N/A |
INTRINSIC |
|
low complexity region
|
1677 |
1690 |
N/A |
INTRINSIC |
|
low complexity region
|
1702 |
1712 |
N/A |
INTRINSIC |
|
low complexity region
|
2176 |
2195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112693
AA Change: V2071A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108313
Gene: ENSMUSG00000036202
AA Change: V2071A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rif1_N
|
18 |
381 |
1.4e-85 |
PFAM |
|
low complexity region
|
432 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
598 |
N/A |
INTRINSIC |
|
low complexity region
|
1018 |
1038 |
N/A |
INTRINSIC |
|
low complexity region
|
1180 |
1205 |
N/A |
INTRINSIC |
|
low complexity region
|
1310 |
1321 |
N/A |
INTRINSIC |
|
low complexity region
|
1423 |
1446 |
N/A |
INTRINSIC |
|
low complexity region
|
1576 |
1586 |
N/A |
INTRINSIC |
|
low complexity region
|
1677 |
1690 |
N/A |
INTRINSIC |
|
low complexity region
|
1702 |
1712 |
N/A |
INTRINSIC |
|
low complexity region
|
2176 |
2195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000125322
AA Change: V588A
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000125376
AA Change: V429A
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152178
AA Change: V205A
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres may be involved in DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice homozygous for a gene trap allele exhibit embryonic and postnatal lethality, reduced fertility, and decreased cell proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 145 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
T |
C |
13: 59,691,592 (GRCm38) |
D13G |
probably benign |
Het |
| 4930442H23Rik |
C |
T |
10: 81,183,144 (GRCm38) |
|
probably benign |
Het |
| 5330417C22Rik |
A |
T |
3: 108,458,227 (GRCm38) |
|
probably benign |
Het |
| Adamts13 |
T |
A |
2: 26,983,042 (GRCm38) |
S341T |
probably damaging |
Het |
| Adamts2 |
A |
G |
11: 50,792,722 (GRCm38) |
I944V |
probably benign |
Het |
| Adcy3 |
A |
G |
12: 4,206,542 (GRCm38) |
T783A |
probably benign |
Het |
| Ago3 |
A |
T |
4: 126,368,503 (GRCm38) |
M418K |
probably benign |
Het |
| Alpk1 |
G |
T |
3: 127,687,592 (GRCm38) |
N175K |
possibly damaging |
Het |
| Als2 |
A |
G |
1: 59,215,313 (GRCm38) |
V295A |
probably benign |
Het |
| Anapc13 |
T |
C |
9: 102,629,821 (GRCm38) |
I11T |
probably benign |
Het |
| Ankrd12 |
T |
A |
17: 65,982,999 (GRCm38) |
N1813I |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 90,914,750 (GRCm38) |
I176F |
probably null |
Het |
| Ap3d1 |
TTCTCTCTCTCTCTCTCT |
TTCTCTCTCTCTCTCT |
10: 80,712,778 (GRCm38) |
|
probably null |
Het |
| Arhgap32 |
A |
G |
9: 32,129,653 (GRCm38) |
D67G |
probably damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,260,780 (GRCm38) |
C1619R |
probably damaging |
Het |
| Atp1a4 |
A |
T |
1: 172,254,110 (GRCm38) |
Y158* |
probably null |
Het |
| Atp8b5 |
A |
T |
4: 43,356,980 (GRCm38) |
D576V |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,629,158 (GRCm38) |
I122V |
probably damaging |
Het |
| B430203G13Rik |
A |
T |
12: 17,924,519 (GRCm38) |
|
noncoding transcript |
Het |
| Baz1b |
T |
G |
5: 135,217,413 (GRCm38) |
L572R |
possibly damaging |
Het |
| Ccnd2 |
T |
C |
6: 127,148,798 (GRCm38) |
T92A |
possibly damaging |
Het |
| Ccndbp1 |
A |
T |
2: 121,008,522 (GRCm38) |
T5S |
probably benign |
Het |
| Ccr2 |
G |
A |
9: 124,106,372 (GRCm38) |
V230I |
probably benign |
Het |
| Cct4 |
T |
A |
11: 23,002,866 (GRCm38) |
V514E |
probably damaging |
Het |
| Cep152 |
A |
G |
2: 125,586,329 (GRCm38) |
|
probably null |
Het |
| Cflar |
C |
T |
1: 58,752,567 (GRCm38) |
T343M |
probably benign |
Het |
| Chrm5 |
A |
C |
2: 112,479,585 (GRCm38) |
N395K |
probably benign |
Het |
| Chrna10 |
G |
A |
7: 102,113,219 (GRCm38) |
P255S |
possibly damaging |
Het |
| Chrna6 |
T |
A |
8: 27,407,106 (GRCm38) |
I248F |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,579,293 (GRCm38) |
D1387G |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,437,372 (GRCm38) |
|
probably null |
Het |
| Cntnap5a |
C |
T |
1: 116,101,565 (GRCm38) |
R250W |
probably benign |
Het |
| Col12a1 |
C |
A |
9: 79,678,494 (GRCm38) |
V1228F |
possibly damaging |
Het |
| Cxcr5 |
T |
C |
9: 44,513,341 (GRCm38) |
T340A |
probably benign |
Het |
| Cyp2a4 |
G |
A |
7: 26,312,875 (GRCm38) |
R361K |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,263,479 (GRCm38) |
K3818N |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,967,824 (GRCm38) |
K2393M |
probably benign |
Het |
| Dpy19l1 |
A |
T |
9: 24,424,823 (GRCm38) |
L529Q |
probably damaging |
Het |
| Eif4g2 |
C |
T |
7: 111,076,796 (GRCm38) |
R399H |
probably damaging |
Het |
| Fam160a1 |
G |
T |
3: 85,688,570 (GRCm38) |
T115K |
probably damaging |
Het |
| Fam76a |
A |
T |
4: 132,902,117 (GRCm38) |
|
probably null |
Het |
| Fam76a |
A |
G |
4: 132,916,190 (GRCm38) |
Y78H |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,324,919 (GRCm38) |
C2026S |
probably damaging |
Het |
| Fbxo4 |
T |
C |
15: 3,969,041 (GRCm38) |
T312A |
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,724,800 (GRCm38) |
V257A |
possibly damaging |
Het |
| Flnb |
A |
T |
14: 7,905,701 (GRCm38) |
E1150D |
probably benign |
Het |
| Fndc3c1 |
A |
T |
X: 106,437,702 (GRCm38) |
S661R |
possibly damaging |
Het |
| Gba2 |
A |
C |
4: 43,568,315 (GRCm38) |
L684R |
probably damaging |
Het |
| Gbf1 |
G |
T |
19: 46,268,395 (GRCm38) |
C812F |
possibly damaging |
Het |
| Glt8d2 |
A |
T |
10: 82,660,749 (GRCm38) |
D158E |
probably damaging |
Het |
| Golga2 |
T |
A |
2: 32,297,156 (GRCm38) |
N89K |
probably damaging |
Het |
| Got1 |
A |
G |
19: 43,502,937 (GRCm38) |
I358T |
possibly damaging |
Het |
| Gpx6 |
C |
T |
13: 21,312,264 (GRCm38) |
Q3* |
probably null |
Het |
| Grin1 |
T |
A |
2: 25,292,381 (GRCm38) |
H956L |
possibly damaging |
Het |
| Grin2d |
A |
G |
7: 45,856,781 (GRCm38) |
V562A |
probably damaging |
Het |
| Grm6 |
A |
G |
11: 50,857,277 (GRCm38) |
I405V |
probably benign |
Het |
| Hcar2 |
C |
G |
5: 123,864,450 (GRCm38) |
G330A |
probably benign |
Het |
| Hcfc1 |
T |
C |
X: 73,965,946 (GRCm38) |
K20E |
probably damaging |
Het |
| Iars |
T |
A |
13: 49,724,663 (GRCm38) |
Y888N |
probably damaging |
Het |
| Ifi206 |
A |
T |
1: 173,480,866 (GRCm38) |
H521Q |
probably benign |
Het |
| Impg1 |
A |
G |
9: 80,398,450 (GRCm38) |
S112P |
probably benign |
Het |
| Incenp |
C |
A |
19: 9,877,690 (GRCm38) |
R619M |
unknown |
Het |
| Incenp |
T |
A |
19: 9,877,691 (GRCm38) |
R619W |
unknown |
Het |
| Kat2b |
A |
G |
17: 53,653,203 (GRCm38) |
E513G |
possibly damaging |
Het |
| Kbtbd12 |
G |
T |
6: 88,618,021 (GRCm38) |
L276I |
probably damaging |
Het |
| Kctd9 |
T |
A |
14: 67,734,164 (GRCm38) |
D229E |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,063,077 (GRCm38) |
R308W |
probably damaging |
Het |
| Kif2b |
G |
A |
11: 91,576,428 (GRCm38) |
P343L |
probably benign |
Het |
| Kntc1 |
T |
G |
5: 123,816,762 (GRCm38) |
M2081R |
possibly damaging |
Het |
| Lamc1 |
T |
C |
1: 153,231,740 (GRCm38) |
N1231S |
probably damaging |
Het |
| Lclat1 |
T |
A |
17: 73,240,070 (GRCm38) |
Y327* |
probably null |
Het |
| Lgals3bp |
G |
A |
11: 118,393,514 (GRCm38) |
T413I |
probably damaging |
Het |
| Lin54 |
A |
G |
5: 100,459,738 (GRCm38) |
I250T |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,558,133 (GRCm38) |
N2621S |
probably benign |
Het |
| Lrrtm3 |
T |
A |
10: 64,088,002 (GRCm38) |
H462L |
probably benign |
Het |
| Lysmd1 |
A |
G |
3: 95,134,986 (GRCm38) |
Y57C |
probably damaging |
Het |
| Mccc1 |
C |
A |
3: 35,975,873 (GRCm38) |
M429I |
probably damaging |
Het |
| Metrnl |
A |
G |
11: 121,707,924 (GRCm38) |
E40G |
probably benign |
Het |
| Mios |
T |
A |
6: 8,222,464 (GRCm38) |
M466K |
probably benign |
Het |
| Mrgpra1 |
A |
G |
7: 47,335,470 (GRCm38) |
S154P |
probably damaging |
Het |
| Mrpl24 |
T |
C |
3: 87,922,050 (GRCm38) |
|
probably null |
Het |
| Myo1f |
A |
G |
17: 33,598,191 (GRCm38) |
N736S |
possibly damaging |
Het |
| Myo1h |
A |
G |
5: 114,360,599 (GRCm38) |
I919V |
possibly damaging |
Het |
| Nampt |
T |
C |
12: 32,848,714 (GRCm38) |
L443P |
possibly damaging |
Het |
| Ndufaf2 |
C |
G |
13: 108,052,780 (GRCm38) |
A145P |
probably damaging |
Het |
| Nek10 |
A |
T |
14: 14,855,714 (GRCm38) |
T403S |
probably benign |
Het |
| Nme8 |
C |
A |
13: 19,657,930 (GRCm38) |
V219L |
probably damaging |
Het |
| Nov |
A |
T |
15: 54,752,207 (GRCm38) |
|
probably null |
Het |
| Nps |
T |
A |
7: 135,268,788 (GRCm38) |
L13Q |
probably damaging |
Het |
| Nutm1 |
G |
A |
2: 112,248,936 (GRCm38) |
A878V |
probably benign |
Het |
| Ogdh |
T |
C |
11: 6,349,875 (GRCm38) |
F794L |
probably damaging |
Het |
| Olfr1305 |
A |
T |
2: 111,873,050 (GRCm38) |
D268E |
possibly damaging |
Het |
| Olfr1441 |
A |
T |
19: 12,422,977 (GRCm38) |
I223F |
probably damaging |
Het |
| Olfr292 |
T |
C |
7: 86,694,528 (GRCm38) |
L24P |
probably damaging |
Het |
| Olfr305 |
C |
A |
7: 86,363,735 (GRCm38) |
G201C |
probably damaging |
Het |
| Olfr721-ps1 |
A |
C |
14: 14,407,729 (GRCm38) |
Y167S |
possibly damaging |
Het |
| Olfr998 |
A |
G |
2: 85,590,938 (GRCm38) |
T133A |
probably benign |
Het |
| Pik3cg |
T |
C |
12: 32,205,199 (GRCm38) |
E263G |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,267,846 (GRCm38) |
T1798A |
probably benign |
Het |
| Poldip3 |
T |
C |
15: 83,131,501 (GRCm38) |
Y305C |
probably damaging |
Het |
| Pqlc2 |
G |
T |
4: 139,300,001 (GRCm38) |
H343Q |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,648,976 (GRCm38) |
I107T |
probably benign |
Het |
| Prmt2 |
A |
G |
10: 76,226,221 (GRCm38) |
I50T |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,140,553 (GRCm38) |
T168A |
probably benign |
Het |
| Pudp |
A |
G |
18: 50,568,065 (GRCm38) |
V199A |
probably damaging |
Het |
| Rab3c |
T |
C |
13: 110,061,900 (GRCm38) |
E198G |
probably benign |
Het |
| Rasl12 |
A |
G |
9: 65,413,448 (GRCm38) |
Y156C |
probably damaging |
Het |
| Rbm12 |
T |
C |
2: 156,096,564 (GRCm38) |
D596G |
possibly damaging |
Het |
| Rbm6 |
T |
C |
9: 107,787,352 (GRCm38) |
E694G |
probably benign |
Het |
| Ripply2 |
A |
T |
9: 87,019,796 (GRCm38) |
N125I |
probably damaging |
Het |
| Rps6kc1 |
A |
T |
1: 190,750,188 (GRCm38) |
H284Q |
probably benign |
Het |
| Scara3 |
A |
T |
14: 65,953,501 (GRCm38) |
M1K |
probably null |
Het |
| Sfswap |
A |
G |
5: 129,513,083 (GRCm38) |
T215A |
probably damaging |
Het |
| Shroom2 |
A |
C |
X: 152,660,907 (GRCm38) |
F421V |
probably benign |
Het |
| Sipa1l3 |
A |
G |
7: 29,377,641 (GRCm38) |
V902A |
probably damaging |
Het |
| Slamf8 |
G |
T |
1: 172,584,214 (GRCm38) |
P238Q |
probably damaging |
Het |
| Slc44a3 |
T |
C |
3: 121,527,074 (GRCm38) |
T93A |
possibly damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,278,700 (GRCm38) |
I363N |
probably damaging |
Het |
| Slc7a2 |
T |
A |
8: 40,911,058 (GRCm38) |
M436K |
probably benign |
Het |
| Spindoc |
A |
G |
19: 7,374,091 (GRCm38) |
S223P |
probably benign |
Het |
| Stk11ip |
T |
C |
1: 75,530,281 (GRCm38) |
F669L |
possibly damaging |
Het |
| Sun3 |
G |
A |
11: 9,038,266 (GRCm38) |
L19F |
probably benign |
Het |
| Sycp1 |
C |
A |
3: 102,853,489 (GRCm38) |
A703S |
possibly damaging |
Het |
| Tas2r139 |
T |
G |
6: 42,141,284 (GRCm38) |
F117V |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,625,576 (GRCm38) |
Y1527C |
probably damaging |
Het |
| Tenm4 |
A |
C |
7: 96,774,046 (GRCm38) |
K683Q |
probably damaging |
Het |
| Tfeb |
T |
A |
17: 47,788,227 (GRCm38) |
|
probably null |
Het |
| Tmco4 |
T |
C |
4: 138,998,039 (GRCm38) |
S121P |
probably damaging |
Het |
| Tmprss11d |
C |
T |
5: 86,306,281 (GRCm38) |
V222M |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 85,063,034 (GRCm38) |
W440R |
probably damaging |
Het |
| Trp53bp2 |
A |
G |
1: 182,448,997 (GRCm38) |
T848A |
probably benign |
Het |
| Tssk1 |
G |
A |
16: 17,895,062 (GRCm38) |
R237H |
probably benign |
Het |
| Ttll4 |
A |
T |
1: 74,679,007 (GRCm38) |
T6S |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,769,603 (GRCm38) |
Y19076H |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,721,797 (GRCm38) |
Y29419* |
probably null |
Het |
| Ubr3 |
T |
A |
2: 69,959,603 (GRCm38) |
V867D |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,961,391 (GRCm38) |
T78A |
probably damaging |
Het |
| Utrn |
T |
G |
10: 12,654,745 (GRCm38) |
Q2108P |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,705,789 (GRCm38) |
N351D |
probably damaging |
Het |
| Vmn1r61 |
A |
T |
7: 5,611,127 (GRCm38) |
Y63N |
probably benign |
Het |
| Vmn1r61 |
A |
T |
7: 5,611,125 (GRCm38) |
Y63* |
probably null |
Het |
| Vmn1r85 |
A |
T |
7: 13,084,861 (GRCm38) |
W119R |
probably damaging |
Het |
| Zbtb21 |
A |
C |
16: 97,950,455 (GRCm38) |
V190G |
possibly damaging |
Het |
| Zfp157 |
C |
A |
5: 138,444,789 (GRCm38) |
T14N |
probably damaging |
Het |
| Zfp942 |
A |
T |
17: 21,929,419 (GRCm38) |
H76Q |
probably damaging |
Het |
|
| Other mutations in Rif1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Rif1
|
APN |
2 |
52,121,007 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL00711:Rif1
|
APN |
2 |
52,111,070 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00721:Rif1
|
APN |
2 |
52,119,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01085:Rif1
|
APN |
2 |
52,085,140 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL01093:Rif1
|
APN |
2 |
52,095,948 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01107:Rif1
|
APN |
2 |
52,111,303 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01138:Rif1
|
APN |
2 |
52,111,522 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01844:Rif1
|
APN |
2 |
52,112,543 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL02441:Rif1
|
APN |
2 |
52,105,515 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02448:Rif1
|
APN |
2 |
52,116,696 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02563:Rif1
|
APN |
2 |
52,077,065 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02704:Rif1
|
APN |
2 |
52,093,576 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02946:Rif1
|
APN |
2 |
52,110,125 (GRCm38) |
nonsense |
probably null |
|
|
IGL03060:Rif1
|
APN |
2 |
52,112,137 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03206:Rif1
|
APN |
2 |
52,103,622 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03263:Rif1
|
APN |
2 |
52,090,261 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03267:Rif1
|
APN |
2 |
52,076,988 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL03280:Rif1
|
APN |
2 |
52,112,599 (GRCm38) |
missense |
probably benign |
0.32 |
|
hifi
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
nietzsche
|
UTSW |
2 |
52,077,020 (GRCm38) |
missense |
probably benign |
0.08 |
|
PIT4305001:Rif1
|
UTSW |
2 |
52,111,958 (GRCm38) |
missense |
|
|
|
R0017:Rif1
|
UTSW |
2 |
52,116,674 (GRCm38) |
missense |
probably benign |
0.18 |
|
R0017:Rif1
|
UTSW |
2 |
52,116,674 (GRCm38) |
missense |
probably benign |
0.18 |
|
R0060:Rif1
|
UTSW |
2 |
52,111,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0060:Rif1
|
UTSW |
2 |
52,111,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0104:Rif1
|
UTSW |
2 |
52,110,092 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R0268:Rif1
|
UTSW |
2 |
52,090,286 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0276:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0278:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0288:Rif1
|
UTSW |
2 |
52,110,013 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0314:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0345:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0346:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0383:Rif1
|
UTSW |
2 |
52,085,141 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0384:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0387:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0388:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0456:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0477:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0505:Rif1
|
UTSW |
2 |
52,110,737 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0510:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0511:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0512:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0633:Rif1
|
UTSW |
2 |
52,112,563 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0637:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0638:Rif1
|
UTSW |
2 |
52,111,588 (GRCm38) |
missense |
probably benign |
0.12 |
|
R0666:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0675:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0707:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0726:Rif1
|
UTSW |
2 |
52,110,353 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R0743:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0744:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0938:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0939:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0940:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0941:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0942:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R0943:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R1006:Rif1
|
UTSW |
2 |
52,085,029 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1052:Rif1
|
UTSW |
2 |
52,111,562 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1061:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R1175:Rif1
|
UTSW |
2 |
52,107,628 (GRCm38) |
unclassified |
probably benign |
|
|
R1183:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R1184:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R1271:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R1332:Rif1
|
UTSW |
2 |
52,078,314 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1336:Rif1
|
UTSW |
2 |
52,078,314 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1351:Rif1
|
UTSW |
2 |
52,111,555 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R1517:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R1527:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R1560:Rif1
|
UTSW |
2 |
52,111,131 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1563:Rif1
|
UTSW |
2 |
52,073,223 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1571:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R1625:Rif1
|
UTSW |
2 |
52,103,640 (GRCm38) |
missense |
probably benign |
0.25 |
|
R1679:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R1689:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R1731:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R1744:Rif1
|
UTSW |
2 |
52,112,392 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R1746:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R1748:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R1831:Rif1
|
UTSW |
2 |
52,078,495 (GRCm38) |
nonsense |
probably null |
|
|
R1902:Rif1
|
UTSW |
2 |
52,116,673 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1964:Rif1
|
UTSW |
2 |
52,098,409 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1978:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R2000:Rif1
|
UTSW |
2 |
52,081,298 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2030:Rif1
|
UTSW |
2 |
52,092,346 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2056:Rif1
|
UTSW |
2 |
52,093,576 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2106:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R2109:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R2125:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R2126:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R2145:Rif1
|
UTSW |
2 |
52,111,400 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R2152:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R2153:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R2213:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R2327:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R2512:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R2513:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R2516:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R2520:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R2905:Rif1
|
UTSW |
2 |
52,098,504 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3005:Rif1
|
UTSW |
2 |
52,082,764 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3155:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R3156:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R3429:Rif1
|
UTSW |
2 |
52,110,324 (GRCm38) |
unclassified |
probably benign |
|
|
R3707:Rif1
|
UTSW |
2 |
52,093,580 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3907:Rif1
|
UTSW |
2 |
52,112,545 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3978:Rif1
|
UTSW |
2 |
52,116,747 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4023:Rif1
|
UTSW |
2 |
52,121,087 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4052:Rif1
|
UTSW |
2 |
52,098,471 (GRCm38) |
nonsense |
probably null |
|
|
R4668:Rif1
|
UTSW |
2 |
52,111,952 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4674:Rif1
|
UTSW |
2 |
52,106,942 (GRCm38) |
missense |
probably null |
1.00 |
|
R4715:Rif1
|
UTSW |
2 |
52,073,139 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R4766:Rif1
|
UTSW |
2 |
52,098,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4783:Rif1
|
UTSW |
2 |
52,112,747 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4869:Rif1
|
UTSW |
2 |
52,093,611 (GRCm38) |
intron |
probably benign |
|
|
R4911:Rif1
|
UTSW |
2 |
52,110,518 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4951:Rif1
|
UTSW |
2 |
52,084,986 (GRCm38) |
splice site |
probably null |
|
|
R5044:Rif1
|
UTSW |
2 |
52,109,928 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5088:Rif1
|
UTSW |
2 |
52,092,295 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5151:Rif1
|
UTSW |
2 |
52,120,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5187:Rif1
|
UTSW |
2 |
52,081,289 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5222:Rif1
|
UTSW |
2 |
52,077,020 (GRCm38) |
missense |
probably benign |
0.08 |
|
R5243:Rif1
|
UTSW |
2 |
52,111,824 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5436:Rif1
|
UTSW |
2 |
52,120,971 (GRCm38) |
intron |
probably benign |
|
|
R5476:Rif1
|
UTSW |
2 |
52,089,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5496:Rif1
|
UTSW |
2 |
52,098,916 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5641:Rif1
|
UTSW |
2 |
52,121,158 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5883:Rif1
|
UTSW |
2 |
52,105,639 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5987:Rif1
|
UTSW |
2 |
52,095,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5990:Rif1
|
UTSW |
2 |
52,095,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5992:Rif1
|
UTSW |
2 |
52,095,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6019:Rif1
|
UTSW |
2 |
52,095,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6020:Rif1
|
UTSW |
2 |
52,095,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6255:Rif1
|
UTSW |
2 |
52,085,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6342:Rif1
|
UTSW |
2 |
52,119,156 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6364:Rif1
|
UTSW |
2 |
52,107,669 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6747:Rif1
|
UTSW |
2 |
52,078,263 (GRCm38) |
splice site |
probably null |
|
|
R6928:Rif1
|
UTSW |
2 |
52,095,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6954:Rif1
|
UTSW |
2 |
52,112,691 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7003:Rif1
|
UTSW |
2 |
52,076,989 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7310:Rif1
|
UTSW |
2 |
52,105,619 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7549:Rif1
|
UTSW |
2 |
52,078,507 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R7603:Rif1
|
UTSW |
2 |
52,076,175 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7673:Rif1
|
UTSW |
2 |
52,088,654 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7741:Rif1
|
UTSW |
2 |
52,085,141 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7777:Rif1
|
UTSW |
2 |
52,116,356 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7910:Rif1
|
UTSW |
2 |
52,078,387 (GRCm38) |
nonsense |
probably null |
|
|
R7962:Rif1
|
UTSW |
2 |
52,074,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8264:Rif1
|
UTSW |
2 |
52,090,278 (GRCm38) |
missense |
noncoding transcript |
|
|
R8390:Rif1
|
UTSW |
2 |
52,110,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8479:Rif1
|
UTSW |
2 |
52,112,551 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R8490:Rif1
|
UTSW |
2 |
52,110,999 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8762:Rif1
|
UTSW |
2 |
52,111,730 (GRCm38) |
missense |
|
|
|
R8785:Rif1
|
UTSW |
2 |
52,110,481 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8890:Rif1
|
UTSW |
2 |
52,098,863 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9081:Rif1
|
UTSW |
2 |
52,110,977 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9225:Rif1
|
UTSW |
2 |
52,111,850 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9284:Rif1
|
UTSW |
2 |
52,108,552 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9300:Rif1
|
UTSW |
2 |
52,111,139 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9366:Rif1
|
UTSW |
2 |
52,120,344 (GRCm38) |
missense |
|
|
|
R9477:Rif1
|
UTSW |
2 |
52,111,330 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9522:Rif1
|
UTSW |
2 |
52,081,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9573:Rif1
|
UTSW |
2 |
52,110,454 (GRCm38) |
missense |
probably benign |
0.29 |
|
R9630:Rif1
|
UTSW |
2 |
52,089,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0064:Rif1
|
UTSW |
2 |
52,094,633 (GRCm38) |
missense |
probably damaging |
0.96 |
|
X0064:Rif1
|
UTSW |
2 |
52,074,315 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Rif1
|
UTSW |
2 |
52,088,648 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGCCAGTGCCTCTAAATCTG -3'
(R):5'- TGCTTGTGGATGGAGAAGCC -3'
Sequencing Primer
(F):5'- TGCCAGTGCCTCTAAATCTGAAGAAG -3'
(R):5'- CAAAGGTGACCAGACACAACGTG -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation