Incidental Mutation 'R7120:Fan1'
| ID |
551931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fan1
|
| Ensembl Gene |
ENSMUSG00000033458 |
| Gene Name |
FANCD2/FANCI-associated nuclease 1 |
| Synonyms |
Mtmr15, 6030441H18Rik |
| MMRRC Submission |
045209-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7120 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
63996506-64023843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64022234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 340
(N340Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032735]
[ENSMUST00000163289]
|
| AlphaFold |
Q69ZT1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032735
|
| SMART Domains |
Protein: ENSMUSP00000032735
Gene: ENSMUSG00000030521
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mpp10
|
20 |
654 |
6.9e-217 |
PFAM |
|
low complexity region
|
666 |
671 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163289
AA Change: N340Y
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130012
Gene: ENSMUSG00000033458
AA Change: N340Y
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ihga1
|
600 |
737 |
5e-5 |
SMART |
|
Blast:VRR_NUC
|
834 |
867 |
2e-12 |
BLAST |
|
VRR_NUC
|
896 |
1011 |
1.99e-37 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206047
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206329
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206778
|
| Meta Mutation Damage Score |
0.1011 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5' flap endonuclease and 5'-3' exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for mutations in this gene display renal tubular karyomegaly with polyploidy and defects in interstrand cross-link DNA repair. Some homozygous mice also display hepatocyte karyomegaly and liver dysfunction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
A |
T |
3: 36,536,016 (GRCm39) |
Q94L |
unknown |
Het |
| 4933411K16Rik |
C |
T |
19: 42,041,112 (GRCm39) |
A81V |
probably benign |
Het |
| Actr3 |
A |
C |
1: 125,331,169 (GRCm39) |
Y273* |
probably null |
Het |
| Aoc1 |
T |
A |
6: 48,883,531 (GRCm39) |
I469N |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,081,047 (GRCm39) |
L1270Q |
probably damaging |
Het |
| Atp2c1 |
G |
A |
9: 105,297,385 (GRCm39) |
Q780* |
probably null |
Het |
| Bbs10 |
T |
C |
10: 111,135,310 (GRCm39) |
V141A |
possibly damaging |
Het |
| Bivm |
A |
T |
1: 44,165,606 (GRCm39) |
T19S |
probably benign |
Het |
| Cacna1h |
T |
G |
17: 25,610,481 (GRCm39) |
H675P |
probably benign |
Het |
| Cadps |
T |
A |
14: 12,439,919 (GRCm38) |
L1204F |
probably damaging |
Het |
| Cald1 |
T |
C |
6: 34,663,011 (GRCm39) |
|
probably null |
Het |
| Calr |
A |
G |
8: 85,569,457 (GRCm39) |
M357T |
probably damaging |
Het |
| Ccni |
A |
T |
5: 93,331,190 (GRCm39) |
Y260* |
probably null |
Het |
| Csrnp3 |
C |
A |
2: 65,853,354 (GRCm39) |
T594K |
probably damaging |
Het |
| Dek |
A |
T |
13: 47,253,659 (GRCm39) |
M152K |
unknown |
Het |
| Depdc1b |
T |
C |
13: 108,498,781 (GRCm39) |
W155R |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,347,591 (GRCm39) |
K315R |
probably benign |
Het |
| Epn3 |
C |
A |
11: 94,383,254 (GRCm39) |
R323S |
probably benign |
Het |
| Fbxo10 |
T |
A |
4: 45,040,533 (GRCm39) |
K891* |
probably null |
Het |
| Fras1 |
G |
T |
5: 96,900,819 (GRCm39) |
G3013* |
probably null |
Het |
| Gbp2b |
A |
G |
3: 142,312,507 (GRCm39) |
T297A |
probably benign |
Het |
| Gbp7 |
T |
C |
3: 142,249,734 (GRCm39) |
S402P |
probably damaging |
Het |
| Gclc |
T |
C |
9: 77,694,032 (GRCm39) |
Y329H |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,064,375 (GRCm39) |
H655R |
probably benign |
Het |
| Gm4787 |
C |
A |
12: 81,425,260 (GRCm39) |
M299I |
probably benign |
Het |
| Grb7 |
C |
A |
11: 98,345,817 (GRCm39) |
R532S |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,576,292 (GRCm39) |
I2066N |
probably damaging |
Het |
| Hnrnpll |
T |
C |
17: 80,341,486 (GRCm39) |
T518A |
probably benign |
Het |
| Hps3 |
G |
A |
3: 20,065,705 (GRCm39) |
R712W |
probably damaging |
Het |
| Hspd1 |
A |
G |
1: 55,118,388 (GRCm39) |
V406A |
probably benign |
Het |
| Igkv2-112 |
T |
C |
6: 68,197,510 (GRCm39) |
F61L |
probably benign |
Het |
| Iqcf5 |
G |
A |
9: 106,392,995 (GRCm39) |
R84H |
probably damaging |
Het |
| Itgad |
T |
A |
7: 127,773,146 (GRCm39) |
M1K |
probably null |
Het |
| Kmt2d |
A |
G |
15: 98,758,946 (GRCm39) |
S1292P |
unknown |
Het |
| Macc1 |
C |
A |
12: 119,409,480 (GRCm39) |
Q83K |
possibly damaging |
Het |
| Map3k4 |
G |
T |
17: 12,490,354 (GRCm39) |
A359E |
probably damaging |
Het |
| Mfap3 |
T |
A |
11: 57,419,043 (GRCm39) |
C68S |
probably damaging |
Het |
| Mipep |
C |
T |
14: 61,112,696 (GRCm39) |
R660C |
possibly damaging |
Het |
| Morc2b |
A |
T |
17: 33,354,787 (GRCm39) |
L995Q |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,313,508 (GRCm39) |
N913S |
probably damaging |
Het |
| N4bp1 |
C |
A |
8: 87,587,495 (GRCm39) |
C481F |
probably benign |
Het |
| Nae1 |
A |
G |
8: 105,252,910 (GRCm39) |
|
probably null |
Het |
| Nup214 |
T |
A |
2: 31,941,054 (GRCm39) |
V29E |
probably benign |
Het |
| Or1e30 |
A |
T |
11: 73,677,940 (GRCm39) |
M59L |
probably damaging |
Het |
| Or8c11 |
T |
C |
9: 38,289,945 (GRCm39) |
L250P |
probably damaging |
Het |
| Orai1 |
A |
G |
5: 123,167,535 (GRCm39) |
E236G |
possibly damaging |
Het |
| P2rx7 |
A |
G |
5: 122,819,357 (GRCm39) |
Y593C |
probably benign |
Het |
| Pcbp2 |
A |
G |
15: 102,383,113 (GRCm39) |
D77G |
possibly damaging |
Het |
| Pcdha8 |
G |
A |
18: 37,126,840 (GRCm39) |
V441M |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Plaa |
A |
G |
4: 94,470,919 (GRCm39) |
S406P |
possibly damaging |
Het |
| Plekhh1 |
C |
A |
12: 79,117,713 (GRCm39) |
P903Q |
probably benign |
Het |
| Plekhh3 |
T |
C |
11: 101,059,064 (GRCm39) |
E92G |
probably damaging |
Het |
| Ptpn9 |
T |
C |
9: 56,967,166 (GRCm39) |
F463S |
probably damaging |
Het |
| Ptprn2 |
A |
C |
12: 116,835,676 (GRCm39) |
E337A |
probably benign |
Het |
| Rubcn |
C |
T |
16: 32,656,839 (GRCm39) |
R527Q |
probably damaging |
Het |
| Samd3 |
C |
T |
10: 26,106,864 (GRCm39) |
T73M |
possibly damaging |
Het |
| Sfxn4 |
T |
A |
19: 60,840,477 (GRCm39) |
K173* |
probably null |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
| Son |
T |
G |
16: 91,467,414 (GRCm39) |
N2258K |
unknown |
Het |
| Sspo |
A |
T |
6: 48,442,505 (GRCm39) |
H2000L |
probably benign |
Het |
| Syne1 |
C |
T |
10: 5,243,971 (GRCm39) |
S2731N |
probably benign |
Het |
| Syt6 |
T |
C |
3: 103,494,673 (GRCm39) |
Y213H |
probably damaging |
Het |
| Tkt |
A |
G |
14: 30,281,779 (GRCm39) |
N99S |
probably benign |
Het |
| Tlcd3b |
T |
C |
7: 126,428,505 (GRCm39) |
L221P |
probably damaging |
Het |
| Tmem258 |
G |
A |
19: 10,181,602 (GRCm39) |
|
probably benign |
Het |
| Tnks1bp1 |
T |
C |
2: 84,902,441 (GRCm39) |
S1702P |
probably damaging |
Het |
| Tpte |
A |
G |
8: 22,817,689 (GRCm39) |
D225G |
probably damaging |
Het |
| Trak1 |
T |
A |
9: 121,289,564 (GRCm39) |
F625L |
probably benign |
Het |
| Ttc33 |
G |
T |
15: 5,241,488 (GRCm39) |
C77F |
probably benign |
Het |
| Ugt1a2 |
A |
G |
1: 88,128,522 (GRCm39) |
H55R |
probably damaging |
Het |
| Vmn1r169 |
G |
T |
7: 23,277,444 (GRCm39) |
V279L |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,805,394 (GRCm39) |
K488E |
possibly damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,956,504 (GRCm39) |
D39E |
possibly damaging |
Het |
|
| Other mutations in Fan1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01648:Fan1
|
APN |
7 |
64,022,297 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01752:Fan1
|
APN |
7 |
64,022,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01971:Fan1
|
APN |
7 |
64,003,459 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02043:Fan1
|
APN |
7 |
64,021,367 (GRCm39) |
splice site |
probably null |
|
|
IGL02542:Fan1
|
APN |
7 |
64,014,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02731:Fan1
|
APN |
7 |
64,022,741 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03111:Fan1
|
APN |
7 |
63,999,816 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
hitched
|
UTSW |
7 |
64,014,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
stitched
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0270:Fan1
|
UTSW |
7 |
63,998,619 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0632:Fan1
|
UTSW |
7 |
64,012,947 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1714:Fan1
|
UTSW |
7 |
64,016,435 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1750:Fan1
|
UTSW |
7 |
64,022,761 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1822:Fan1
|
UTSW |
7 |
64,022,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2031:Fan1
|
UTSW |
7 |
64,004,172 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2107:Fan1
|
UTSW |
7 |
64,016,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Fan1
|
UTSW |
7 |
63,996,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Fan1
|
UTSW |
7 |
64,012,938 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2869:Fan1
|
UTSW |
7 |
64,012,938 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2870:Fan1
|
UTSW |
7 |
64,012,938 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2870:Fan1
|
UTSW |
7 |
64,012,938 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2871:Fan1
|
UTSW |
7 |
64,012,938 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2871:Fan1
|
UTSW |
7 |
64,012,938 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2873:Fan1
|
UTSW |
7 |
64,012,938 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3849:Fan1
|
UTSW |
7 |
64,022,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3850:Fan1
|
UTSW |
7 |
64,022,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3949:Fan1
|
UTSW |
7 |
64,021,292 (GRCm39) |
nonsense |
probably null |
|
|
R4007:Fan1
|
UTSW |
7 |
64,016,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4490:Fan1
|
UTSW |
7 |
64,018,928 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4623:Fan1
|
UTSW |
7 |
64,023,301 (GRCm39) |
nonsense |
probably null |
|
|
R4918:Fan1
|
UTSW |
7 |
64,023,286 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5328:Fan1
|
UTSW |
7 |
64,004,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5691:Fan1
|
UTSW |
7 |
64,004,118 (GRCm39) |
splice site |
probably null |
|
|
R5902:Fan1
|
UTSW |
7 |
64,023,070 (GRCm39) |
splice site |
probably null |
|
|
R5905:Fan1
|
UTSW |
7 |
64,003,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6126:Fan1
|
UTSW |
7 |
64,014,318 (GRCm39) |
nonsense |
probably null |
|
|
R6195:Fan1
|
UTSW |
7 |
64,004,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6233:Fan1
|
UTSW |
7 |
64,004,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6405:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6434:Fan1
|
UTSW |
7 |
64,004,129 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6460:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6469:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6471:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6473:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6696:Fan1
|
UTSW |
7 |
63,999,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6708:Fan1
|
UTSW |
7 |
64,022,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6713:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6714:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6749:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6841:Fan1
|
UTSW |
7 |
64,014,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6858:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6859:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6860:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6925:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6927:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6936:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6938:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6939:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7040:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7290:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7292:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7459:Fan1
|
UTSW |
7 |
63,998,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7460:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7464:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7465:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7465:Fan1
|
UTSW |
7 |
64,003,386 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7608:Fan1
|
UTSW |
7 |
64,003,979 (GRCm39) |
splice site |
probably null |
|
|
R7624:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7629:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7682:Fan1
|
UTSW |
7 |
64,022,512 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7731:Fan1
|
UTSW |
7 |
64,022,444 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7863:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8054:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8055:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8057:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8058:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8101:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8241:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8262:Fan1
|
UTSW |
7 |
64,023,054 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8274:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8275:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8276:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8285:Fan1
|
UTSW |
7 |
64,016,348 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8318:Fan1
|
UTSW |
7 |
63,999,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8402:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8466:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8468:Fan1
|
UTSW |
7 |
64,022,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8799:Fan1
|
UTSW |
7 |
64,016,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8821:Fan1
|
UTSW |
7 |
64,004,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9030:Fan1
|
UTSW |
7 |
64,022,761 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9181:Fan1
|
UTSW |
7 |
64,016,400 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9525:Fan1
|
UTSW |
7 |
64,022,007 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9564:Fan1
|
UTSW |
7 |
63,999,240 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9565:Fan1
|
UTSW |
7 |
63,999,240 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9796:Fan1
|
UTSW |
7 |
64,022,278 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0025:Fan1
|
UTSW |
7 |
64,022,583 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGATAATCGCCTTCTCCTGC -3'
(R):5'- AAATCCTCTCCGGGAGACAC -3'
Sequencing Primer
(F):5'- TCATCGAAGAGCTTCATGTCC -3'
(R):5'- TCTCCGGGAGACACTCTTGTAAAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation