Incidental Mutation 'R6195:Fan1'
ID |
502853 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fan1
|
Ensembl Gene |
ENSMUSG00000033458 |
Gene Name |
FANCD2/FANCI-associated nuclease 1 |
Synonyms |
Mtmr15, 6030441H18Rik |
MMRRC Submission |
044335-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6195 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
63996506-64023843 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 64004119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 782
(H782Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163289]
|
AlphaFold |
Q69ZT1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163289
AA Change: H782Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000130012 Gene: ENSMUSG00000033458 AA Change: H782Q
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
97% (76/78) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
A |
G |
1: 192,857,142 (GRCm39) |
|
probably null |
Het |
Aadacl2fm2 |
G |
A |
3: 59,659,623 (GRCm39) |
V359I |
probably damaging |
Het |
Abtb1 |
T |
C |
6: 88,817,718 (GRCm39) |
E50G |
probably benign |
Het |
Agbl2 |
T |
A |
2: 90,643,657 (GRCm39) |
D792E |
probably benign |
Het |
Aoc1 |
C |
A |
6: 48,885,611 (GRCm39) |
N705K |
probably damaging |
Het |
Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
Arhgef7 |
C |
T |
8: 11,872,017 (GRCm39) |
T701I |
probably damaging |
Het |
Atg10 |
G |
T |
13: 91,356,555 (GRCm39) |
|
probably null |
Het |
Atp5f1c |
T |
C |
2: 10,068,926 (GRCm39) |
I116M |
possibly damaging |
Het |
Baz2b |
T |
A |
2: 59,737,855 (GRCm39) |
Q1818L |
possibly damaging |
Het |
Bod1 |
A |
G |
11: 31,616,740 (GRCm39) |
*174Q |
probably null |
Het |
Cacna1a |
A |
G |
8: 85,315,382 (GRCm39) |
Y1539C |
probably damaging |
Het |
Creb3 |
A |
G |
4: 43,566,346 (GRCm39) |
D260G |
probably benign |
Het |
Cyp1b1 |
G |
T |
17: 80,021,695 (GRCm39) |
L16M |
probably damaging |
Het |
Dhx29 |
T |
A |
13: 113,101,071 (GRCm39) |
S1205T |
probably benign |
Het |
Dlec1 |
A |
G |
9: 118,966,321 (GRCm39) |
K1097E |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,243,429 (GRCm39) |
D1578N |
probably damaging |
Het |
Dok3 |
T |
C |
13: 55,671,389 (GRCm39) |
N394S |
probably benign |
Het |
Dpcd |
A |
G |
19: 45,565,458 (GRCm39) |
D144G |
probably damaging |
Het |
Efhb |
A |
G |
17: 53,769,580 (GRCm39) |
F243S |
possibly damaging |
Het |
Eif2ak2 |
A |
T |
17: 79,178,662 (GRCm39) |
Y137* |
probably null |
Het |
Eif4e1b |
A |
G |
13: 54,932,018 (GRCm39) |
N34S |
probably null |
Het |
F2rl3 |
A |
G |
8: 73,489,513 (GRCm39) |
T247A |
probably benign |
Het |
Fer1l5 |
T |
C |
1: 36,414,367 (GRCm39) |
|
probably null |
Het |
Fer1l6 |
T |
C |
15: 58,509,806 (GRCm39) |
S1423P |
probably damaging |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Fgfbp1 |
T |
C |
5: 44,136,704 (GRCm39) |
D196G |
possibly damaging |
Het |
Fxn |
G |
A |
19: 24,239,407 (GRCm39) |
R162C |
probably damaging |
Het |
Fxr2 |
C |
T |
11: 69,543,099 (GRCm39) |
T632M |
probably benign |
Het |
Gab1 |
A |
T |
8: 81,606,161 (GRCm39) |
Y24* |
probably null |
Het |
Gcc2 |
T |
C |
10: 58,106,806 (GRCm39) |
S681P |
probably damaging |
Het |
Git2 |
T |
C |
5: 114,905,175 (GRCm39) |
N94S |
probably benign |
Het |
Gm5799 |
T |
G |
14: 43,782,088 (GRCm39) |
L87V |
probably damaging |
Het |
Golga7b |
A |
T |
19: 42,251,886 (GRCm39) |
D44V |
probably benign |
Het |
Hace1 |
T |
A |
10: 45,546,539 (GRCm39) |
I391N |
possibly damaging |
Het |
Hmcn2 |
T |
C |
2: 31,274,127 (GRCm39) |
S1416P |
probably damaging |
Het |
Hoxa11 |
G |
A |
6: 52,222,681 (GRCm39) |
R7C |
probably damaging |
Het |
Igkv14-126 |
A |
T |
6: 67,873,475 (GRCm39) |
T68S |
possibly damaging |
Het |
Insyn2a |
T |
C |
7: 134,520,377 (GRCm39) |
D51G |
probably damaging |
Het |
Itpr3 |
T |
C |
17: 27,305,934 (GRCm39) |
I164T |
probably damaging |
Het |
Kif22 |
A |
G |
7: 126,628,131 (GRCm39) |
S540P |
probably damaging |
Het |
Ldlr |
T |
A |
9: 21,643,077 (GRCm39) |
C34* |
probably null |
Het |
Lrrtm4 |
T |
C |
6: 79,998,939 (GRCm39) |
L117P |
probably damaging |
Het |
Mad2l1 |
G |
T |
6: 66,514,612 (GRCm39) |
G94C |
possibly damaging |
Het |
Malrd1 |
C |
A |
2: 15,700,137 (GRCm39) |
H661Q |
probably damaging |
Het |
Mical3 |
T |
A |
6: 120,993,796 (GRCm39) |
|
probably benign |
Het |
Mipep |
T |
A |
14: 61,109,554 (GRCm39) |
W644R |
probably damaging |
Het |
Mycl |
A |
G |
4: 122,893,713 (GRCm39) |
D171G |
probably damaging |
Het |
Myof |
A |
G |
19: 37,901,805 (GRCm39) |
F997L |
possibly damaging |
Het |
Nagpa |
C |
T |
16: 5,021,613 (GRCm39) |
R46H |
probably damaging |
Het |
Nf1 |
A |
G |
11: 79,456,801 (GRCm39) |
Y629C |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,888,033 (GRCm39) |
E2164V |
probably damaging |
Het |
Or52h1 |
A |
T |
7: 103,828,961 (GRCm39) |
V218D |
possibly damaging |
Het |
Or5ac23 |
A |
G |
16: 59,149,785 (GRCm39) |
V29A |
possibly damaging |
Het |
Or5w19 |
T |
C |
2: 87,698,904 (GRCm39) |
S190P |
possibly damaging |
Het |
Or8k25 |
T |
C |
2: 86,243,551 (GRCm39) |
I282V |
probably damaging |
Het |
Pcdh20 |
T |
C |
14: 88,705,488 (GRCm39) |
E604G |
probably benign |
Het |
Pcdhb7 |
G |
A |
18: 37,475,709 (GRCm39) |
V282I |
probably benign |
Het |
Pcnx4 |
A |
G |
12: 72,603,648 (GRCm39) |
D523G |
possibly damaging |
Het |
Pigx |
G |
A |
16: 31,903,404 (GRCm39) |
T219I |
probably damaging |
Het |
Plch1 |
G |
T |
3: 63,648,210 (GRCm39) |
P399Q |
probably damaging |
Het |
Pvrig-ps |
T |
A |
5: 138,340,537 (GRCm39) |
F74I |
possibly damaging |
Het |
Rsrp1 |
T |
A |
4: 134,654,113 (GRCm39) |
I255K |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,107,962 (GRCm39) |
Y1588F |
possibly damaging |
Het |
Serpina9 |
T |
A |
12: 103,967,666 (GRCm39) |
H243L |
probably damaging |
Het |
Tapbp |
T |
C |
17: 34,138,956 (GRCm39) |
L41P |
probably damaging |
Het |
Tbc1d16 |
T |
A |
11: 119,101,391 (GRCm39) |
K40* |
probably null |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tbc1d23 |
T |
C |
16: 57,051,713 (GRCm39) |
E6G |
possibly damaging |
Het |
Tdrd6 |
A |
G |
17: 43,940,643 (GRCm39) |
V135A |
probably damaging |
Het |
Tmem87a |
A |
T |
2: 120,222,656 (GRCm39) |
|
probably null |
Het |
Tnrc18 |
T |
A |
5: 142,750,928 (GRCm39) |
K1217N |
unknown |
Het |
Trim33 |
G |
A |
3: 103,244,848 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,567,997 (GRCm39) |
Y27632F |
probably benign |
Het |
Tubgcp6 |
A |
T |
15: 89,006,994 (GRCm39) |
D9E |
probably benign |
Het |
Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
Zfp655 |
T |
A |
5: 145,180,572 (GRCm39) |
F143L |
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 |
|
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 |
R7120: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'- GTAGCCCAGACATAGCAGAG -3'
(R):5'- TGCTAGGCAATTAGGTGCATC -3'
Sequencing Primer
(F):5'- GGTGACACCGCTATCCCAAATG -3'
(R):5'- TGCATCAGGGAAGGCCTG -3'
|
Posted On |
2018-02-27 |