Incidental Mutation 'R1336:Rif1'
ID | 156864 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rif1
|
Ensembl Gene |
ENSMUSG00000036202 |
Gene Name | replication timing regulatory factor 1 |
Synonyms | 6530403D07Rik, 5730435J01Rik, D2Ertd145e |
MMRRC Submission |
039401-MU
|
Accession Numbers | |
Is this an essential gene? |
Essential (E-score: 1.000)
|
Stock # | R1336 (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 A
at 52078314 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 170
(W170R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108313
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069794]
[ENSMUST00000112693]
[ENSMUST00000126218]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000069794
AA Change: W170R
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000064155 Gene: ENSMUSG00000036202 AA Change: W170R
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 benign
Transcript: ENSMUST00000112693
AA Change: W170R
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000108313 Gene: ENSMUSG00000036202 AA Change: W170R
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 |
probably benign
Transcript: ENSMUST00000126218
|
Meta Mutation Damage Score |
0.0898
|
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.1%
- 10x: 92.3%
- 20x: 80.9%
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asah2 |
A |
G |
19: 32,044,941 |
I231T |
probably damaging |
Het |
Bbs7 |
A |
G |
3: 36,604,444 |
I227T |
probably benign |
Het |
Ccdc141 |
T |
C |
2: 77,014,440 |
T1428A |
probably damaging |
Het |
Chsy1 |
C |
A |
7: 66,125,239 |
|
probably null |
Het |
Cox16 |
T |
C |
12: 81,472,290 |
D89G |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 118,043,215 |
I3511T |
possibly damaging |
Het |
Dpy19l4 |
A |
T |
4: 11,276,901 |
Y333N |
probably damaging |
Het |
Fcrl6 |
G |
A |
1: 172,599,224 |
Q52* |
probably null |
Het |
Fgl2 |
T |
A |
5: 21,373,183 |
L156Q |
possibly damaging |
Het |
Fras1 |
A |
G |
5: 96,707,308 |
D1892G |
probably benign |
Het |
Ogfod1 |
T |
C |
8: 94,058,099 |
C344R |
probably damaging |
Het |
Papss2 |
T |
C |
19: 32,638,315 |
V149A |
possibly damaging |
Het |
Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,937,781 |
|
probably benign |
Het |
Pmfbp1 |
T |
G |
8: 109,530,266 |
I534S |
probably damaging |
Het |
Ros1 |
G |
A |
10: 52,168,662 |
T183I |
probably damaging |
Het |
Snx4 |
T |
C |
16: 33,280,680 |
I234T |
probably benign |
Het |
Sptbn4 |
A |
G |
7: 27,417,963 |
S454P |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,673,636 |
S221R |
probably damaging |
Het |
Uck1 |
T |
C |
2: 32,259,654 |
D71G |
probably damaging |
Het |
Vcan |
C |
T |
13: 89,693,055 |
E497K |
probably damaging |
Het |
|
Other mutations in Rif1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Rif1
|
APN |
2 |
52121007 |
missense |
probably damaging |
0.96 |
IGL00711:Rif1
|
APN |
2 |
52111070 |
missense |
probably benign |
0.00 |
IGL00721:Rif1
|
APN |
2 |
52119117 |
missense |
probably damaging |
1.00 |
IGL01085:Rif1
|
APN |
2 |
52085140 |
missense |
possibly damaging |
0.71 |
IGL01093:Rif1
|
APN |
2 |
52095948 |
missense |
probably damaging |
1.00 |
IGL01107:Rif1
|
APN |
2 |
52111303 |
missense |
probably benign |
0.00 |
IGL01138:Rif1
|
APN |
2 |
52111522 |
missense |
probably damaging |
1.00 |
IGL01844:Rif1
|
APN |
2 |
52112543 |
missense |
probably benign |
0.07 |
IGL02441:Rif1
|
APN |
2 |
52105515 |
missense |
probably benign |
0.00 |
IGL02448:Rif1
|
APN |
2 |
52116696 |
missense |
probably damaging |
0.99 |
IGL02563:Rif1
|
APN |
2 |
52077065 |
missense |
probably damaging |
1.00 |
IGL02704:Rif1
|
APN |
2 |
52093576 |
missense |
probably damaging |
1.00 |
IGL02946:Rif1
|
APN |
2 |
52110125 |
nonsense |
probably null |
|
IGL03060:Rif1
|
APN |
2 |
52112137 |
missense |
probably damaging |
0.97 |
IGL03206:Rif1
|
APN |
2 |
52103622 |
missense |
probably damaging |
1.00 |
IGL03263:Rif1
|
APN |
2 |
52090261 |
missense |
probably damaging |
0.99 |
IGL03267:Rif1
|
APN |
2 |
52076988 |
missense |
possibly damaging |
0.94 |
IGL03280:Rif1
|
APN |
2 |
52112599 |
missense |
probably benign |
0.32 |
hifi
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
nietzsche
|
UTSW |
2 |
52077020 |
missense |
probably benign |
0.08 |
PIT4305001:Rif1
|
UTSW |
2 |
52111958 |
missense |
|
|
R0017:Rif1
|
UTSW |
2 |
52116674 |
missense |
probably benign |
0.18 |
R0017:Rif1
|
UTSW |
2 |
52116674 |
missense |
probably benign |
0.18 |
R0060:Rif1
|
UTSW |
2 |
52111117 |
missense |
probably damaging |
1.00 |
R0060:Rif1
|
UTSW |
2 |
52111117 |
missense |
probably damaging |
1.00 |
R0104:Rif1
|
UTSW |
2 |
52110092 |
missense |
possibly damaging |
0.77 |
R0268:Rif1
|
UTSW |
2 |
52090286 |
critical splice donor site |
probably null |
|
R0276:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0278:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0288:Rif1
|
UTSW |
2 |
52110013 |
missense |
probably damaging |
1.00 |
R0314:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0345:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0346:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0383:Rif1
|
UTSW |
2 |
52085141 |
missense |
probably damaging |
0.96 |
R0384:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0387:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0388:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0456:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0477:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0505:Rif1
|
UTSW |
2 |
52110737 |
missense |
probably damaging |
0.99 |
R0510:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0511:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0512:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0633:Rif1
|
UTSW |
2 |
52112563 |
missense |
probably benign |
0.00 |
R0637:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0638:Rif1
|
UTSW |
2 |
52111588 |
missense |
probably benign |
0.12 |
R0666:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0675:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0707:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0726:Rif1
|
UTSW |
2 |
52110353 |
missense |
possibly damaging |
0.52 |
R0743:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0744:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0938:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0939:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0940:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0941:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0942:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R0943:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R1006:Rif1
|
UTSW |
2 |
52085029 |
missense |
probably damaging |
0.99 |
R1052:Rif1
|
UTSW |
2 |
52111562 |
missense |
probably benign |
0.01 |
R1061:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R1175:Rif1
|
UTSW |
2 |
52107628 |
unclassified |
probably benign |
|
R1183:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R1184:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R1271:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R1332:Rif1
|
UTSW |
2 |
52078314 |
missense |
probably benign |
0.06 |
R1351:Rif1
|
UTSW |
2 |
52111555 |
missense |
possibly damaging |
0.74 |
R1517:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R1527:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R1560:Rif1
|
UTSW |
2 |
52111131 |
missense |
probably damaging |
1.00 |
R1563:Rif1
|
UTSW |
2 |
52073223 |
missense |
probably damaging |
0.99 |
R1571:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R1625:Rif1
|
UTSW |
2 |
52103640 |
missense |
probably benign |
0.25 |
R1679:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R1689:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R1731:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R1744:Rif1
|
UTSW |
2 |
52112392 |
missense |
possibly damaging |
0.56 |
R1746:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R1748:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R1831:Rif1
|
UTSW |
2 |
52078495 |
nonsense |
probably null |
|
R1902:Rif1
|
UTSW |
2 |
52116673 |
missense |
possibly damaging |
0.93 |
R1964:Rif1
|
UTSW |
2 |
52098409 |
missense |
probably benign |
0.01 |
R1978:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R2000:Rif1
|
UTSW |
2 |
52081298 |
missense |
probably damaging |
0.99 |
R2030:Rif1
|
UTSW |
2 |
52092346 |
missense |
probably damaging |
1.00 |
R2056:Rif1
|
UTSW |
2 |
52093576 |
missense |
probably damaging |
1.00 |
R2106:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R2109:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R2125:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R2126:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R2145:Rif1
|
UTSW |
2 |
52111400 |
missense |
possibly damaging |
0.63 |
R2152:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R2153:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R2213:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R2327:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R2512:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R2513:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R2516:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R2520:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R2905:Rif1
|
UTSW |
2 |
52098504 |
missense |
probably damaging |
0.99 |
R3005:Rif1
|
UTSW |
2 |
52082764 |
missense |
probably damaging |
1.00 |
R3155:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R3156:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R3429:Rif1
|
UTSW |
2 |
52110324 |
unclassified |
probably benign |
|
R3707:Rif1
|
UTSW |
2 |
52093580 |
missense |
probably damaging |
1.00 |
R3907:Rif1
|
UTSW |
2 |
52112545 |
missense |
probably benign |
0.03 |
R3978:Rif1
|
UTSW |
2 |
52116747 |
critical splice donor site |
probably null |
|
R4023:Rif1
|
UTSW |
2 |
52121087 |
missense |
probably benign |
0.01 |
R4052:Rif1
|
UTSW |
2 |
52098471 |
nonsense |
probably null |
|
R4668:Rif1
|
UTSW |
2 |
52111952 |
missense |
probably benign |
0.01 |
R4674:Rif1
|
UTSW |
2 |
52106942 |
missense |
probably null |
1.00 |
R4715:Rif1
|
UTSW |
2 |
52073139 |
utr 5 prime |
probably benign |
|
R4766:Rif1
|
UTSW |
2 |
52098934 |
missense |
probably damaging |
1.00 |
R4783:Rif1
|
UTSW |
2 |
52112747 |
missense |
probably damaging |
0.96 |
R4785:Rif1
|
UTSW |
2 |
52112747 |
missense |
probably damaging |
0.96 |
R4869:Rif1
|
UTSW |
2 |
52093611 |
intron |
probably benign |
|
R4911:Rif1
|
UTSW |
2 |
52110518 |
missense |
probably damaging |
0.98 |
R4951:Rif1
|
UTSW |
2 |
52084986 |
splice site |
probably null |
|
R5044:Rif1
|
UTSW |
2 |
52109928 |
missense |
probably damaging |
0.99 |
R5088:Rif1
|
UTSW |
2 |
52092295 |
missense |
possibly damaging |
0.91 |
R5151:Rif1
|
UTSW |
2 |
52120309 |
missense |
probably damaging |
1.00 |
R5187:Rif1
|
UTSW |
2 |
52081289 |
missense |
probably damaging |
1.00 |
R5222:Rif1
|
UTSW |
2 |
52077020 |
missense |
probably benign |
0.08 |
R5243:Rif1
|
UTSW |
2 |
52111824 |
missense |
possibly damaging |
0.86 |
R5436:Rif1
|
UTSW |
2 |
52120971 |
intron |
probably benign |
|
R5476:Rif1
|
UTSW |
2 |
52089595 |
missense |
probably damaging |
1.00 |
R5496:Rif1
|
UTSW |
2 |
52098916 |
missense |
probably damaging |
1.00 |
R5641:Rif1
|
UTSW |
2 |
52121158 |
missense |
possibly damaging |
0.80 |
R5883:Rif1
|
UTSW |
2 |
52105639 |
critical splice donor site |
probably null |
|
R5987:Rif1
|
UTSW |
2 |
52095844 |
missense |
probably damaging |
1.00 |
R5990:Rif1
|
UTSW |
2 |
52095844 |
missense |
probably damaging |
1.00 |
R5992:Rif1
|
UTSW |
2 |
52095844 |
missense |
probably damaging |
1.00 |
R6019:Rif1
|
UTSW |
2 |
52095844 |
missense |
probably damaging |
1.00 |
R6020:Rif1
|
UTSW |
2 |
52095844 |
missense |
probably damaging |
1.00 |
R6255:Rif1
|
UTSW |
2 |
52085053 |
missense |
probably damaging |
1.00 |
R6342:Rif1
|
UTSW |
2 |
52119156 |
missense |
probably damaging |
0.97 |
R6364:Rif1
|
UTSW |
2 |
52107669 |
missense |
probably damaging |
0.97 |
R6747:Rif1
|
UTSW |
2 |
52078263 |
splice site |
probably null |
|
R6928:Rif1
|
UTSW |
2 |
52095961 |
missense |
probably damaging |
1.00 |
R6954:Rif1
|
UTSW |
2 |
52112691 |
missense |
probably benign |
0.00 |
R7003:Rif1
|
UTSW |
2 |
52076989 |
missense |
probably benign |
0.06 |
R7310:Rif1
|
UTSW |
2 |
52105619 |
missense |
probably benign |
0.12 |
R7549:Rif1
|
UTSW |
2 |
52078507 |
missense |
possibly damaging |
0.52 |
R7603:Rif1
|
UTSW |
2 |
52076175 |
missense |
probably damaging |
1.00 |
R7673:Rif1
|
UTSW |
2 |
52088654 |
missense |
probably damaging |
1.00 |
R7741:Rif1
|
UTSW |
2 |
52085141 |
missense |
probably damaging |
0.96 |
R7777:Rif1
|
UTSW |
2 |
52116356 |
missense |
probably benign |
0.00 |
R7910:Rif1
|
UTSW |
2 |
52078387 |
nonsense |
probably null |
|
R7962:Rif1
|
UTSW |
2 |
52074276 |
missense |
probably damaging |
1.00 |
R8264:Rif1
|
UTSW |
2 |
52090278 |
missense |
noncoding transcript |
|
R8390:Rif1
|
UTSW |
2 |
52110923 |
missense |
probably damaging |
1.00 |
R8479:Rif1
|
UTSW |
2 |
52112551 |
missense |
possibly damaging |
0.52 |
R8490:Rif1
|
UTSW |
2 |
52110999 |
missense |
probably damaging |
0.96 |
X0064:Rif1
|
UTSW |
2 |
52074315 |
missense |
probably benign |
0.00 |
X0064:Rif1
|
UTSW |
2 |
52094633 |
missense |
probably damaging |
0.96 |
Z1177:Rif1
|
UTSW |
2 |
52088648 |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAAGTGAGCCTAGCCAGGAGCATC -3'
(R):5'- TCTGAAGCAGCAATGGCATCCC -3'
Sequencing Primer
(F):5'- AGCCAGGAGCATCTTTGTACC -3'
(R):5'- GCAATGGCATCCCCATCTC -3'
|
Posted On | 2014-02-11 |