Incidental Mutation 'R2107:Fan1'
ID |
232169 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fan1
|
Ensembl Gene |
ENSMUSG00000033458 |
Gene Name |
FANCD2/FANCI-associated nuclease 1 |
Synonyms |
Mtmr15, 6030441H18Rik |
MMRRC Submission |
040111-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2107 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
63996506-64023843 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 64016536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 529
(R529S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163289]
|
AlphaFold |
Q69ZT1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163289
AA Change: R529S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000130012 Gene: ENSMUSG00000033458 AA Change: R529S
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 |
probably damaging
Transcript: ENSMUST00000177443
AA Change: R529S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135335 Gene: ENSMUSG00000033458 AA Change: R529S
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: ENSMUST00000206329
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206730
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206778
|
Meta Mutation Damage Score |
0.3339 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (72/72) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
A |
T |
2: 30,685,744 (GRCm39) |
L364Q |
probably damaging |
Het |
A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
Ace2 |
A |
G |
X: 162,923,728 (GRCm39) |
N24S |
probably benign |
Het |
Acp2 |
G |
A |
2: 91,033,940 (GRCm39) |
|
probably benign |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Bcas3 |
G |
A |
11: 85,348,704 (GRCm39) |
V199I |
probably damaging |
Het |
Cblb |
T |
A |
16: 51,973,079 (GRCm39) |
|
probably null |
Het |
Ccdc88c |
G |
T |
12: 100,887,808 (GRCm39) |
D1557E |
probably benign |
Het |
Cdc20 |
T |
C |
4: 118,290,710 (GRCm39) |
Y430C |
probably damaging |
Het |
Cdk5rap1 |
C |
T |
2: 154,195,166 (GRCm39) |
D350N |
probably benign |
Het |
Cgrrf1 |
T |
A |
14: 47,090,833 (GRCm39) |
|
probably benign |
Het |
Chia1 |
T |
A |
3: 106,036,156 (GRCm39) |
Y185* |
probably null |
Het |
Cmtm8 |
A |
T |
9: 114,625,176 (GRCm39) |
V85D |
possibly damaging |
Het |
Cplx4 |
A |
G |
18: 66,089,964 (GRCm39) |
S152P |
probably benign |
Het |
Crmp1 |
G |
T |
5: 37,399,838 (GRCm39) |
R117L |
probably benign |
Het |
Csad |
G |
C |
15: 102,087,469 (GRCm39) |
L365V |
probably null |
Het |
Dyrk1a |
C |
T |
16: 94,487,386 (GRCm39) |
T532M |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fbln5 |
A |
G |
12: 101,737,528 (GRCm39) |
W173R |
probably damaging |
Het |
Gm9611 |
A |
T |
14: 42,116,611 (GRCm39) |
N42K |
possibly damaging |
Het |
Gnal |
T |
A |
18: 67,346,649 (GRCm39) |
L257Q |
probably damaging |
Het |
Hint3 |
A |
T |
10: 30,494,252 (GRCm39) |
F33I |
probably damaging |
Het |
Ipcef1 |
A |
G |
10: 6,840,501 (GRCm39) |
S403P |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,514,822 (GRCm39) |
N3007S |
probably benign |
Het |
Kpna3 |
T |
C |
14: 61,607,933 (GRCm39) |
D424G |
possibly damaging |
Het |
Krt90 |
A |
G |
15: 101,471,064 (GRCm39) |
I66T |
probably benign |
Het |
Lamc2 |
A |
G |
1: 153,030,132 (GRCm39) |
|
probably benign |
Het |
Lmtk3 |
G |
T |
7: 45,443,393 (GRCm39) |
C692F |
possibly damaging |
Het |
Lrguk |
T |
C |
6: 34,039,296 (GRCm39) |
M269T |
probably benign |
Het |
Lrrc19 |
T |
A |
4: 94,527,531 (GRCm39) |
T227S |
probably benign |
Het |
Lrrk1 |
C |
A |
7: 65,929,030 (GRCm39) |
D1201Y |
probably damaging |
Het |
Matn2 |
T |
A |
15: 34,423,905 (GRCm39) |
Y588N |
probably damaging |
Het |
Mmp1b |
A |
G |
9: 7,369,310 (GRCm39) |
W346R |
probably damaging |
Het |
Mpo |
T |
C |
11: 87,686,901 (GRCm39) |
Y177H |
probably damaging |
Het |
Mprip |
A |
G |
11: 59,660,717 (GRCm39) |
K2166R |
probably damaging |
Het |
Myo15a |
T |
C |
11: 60,382,636 (GRCm39) |
Y1544H |
probably damaging |
Het |
Nav1 |
C |
T |
1: 135,376,742 (GRCm39) |
R1694Q |
probably damaging |
Het |
Nedd9 |
A |
T |
13: 41,492,455 (GRCm39) |
C12* |
probably null |
Het |
Neu1 |
G |
A |
17: 35,153,374 (GRCm39) |
R299Q |
probably benign |
Het |
Nisch |
C |
T |
14: 30,894,097 (GRCm39) |
V172I |
probably damaging |
Het |
Npy2r |
A |
T |
3: 82,448,436 (GRCm39) |
|
probably null |
Het |
Ogg1 |
C |
A |
6: 113,306,254 (GRCm39) |
N150K |
probably damaging |
Het |
Or1j4 |
C |
A |
2: 36,740,355 (GRCm39) |
A99E |
possibly damaging |
Het |
Or1p1 |
T |
C |
11: 74,180,216 (GRCm39) |
V248A |
probably damaging |
Het |
Or6c219 |
A |
G |
10: 129,781,581 (GRCm39) |
S2P |
probably damaging |
Het |
Pck1 |
G |
C |
2: 172,995,861 (GRCm39) |
E120Q |
probably benign |
Het |
Pde11a |
A |
G |
2: 76,168,266 (GRCm39) |
V229A |
probably damaging |
Het |
Pias2 |
T |
C |
18: 77,185,167 (GRCm39) |
F83L |
probably benign |
Het |
Plagl1 |
A |
C |
10: 13,004,391 (GRCm39) |
|
probably benign |
Het |
Plin3 |
A |
T |
17: 56,591,391 (GRCm39) |
S130T |
probably benign |
Het |
Rcc2 |
A |
G |
4: 140,448,496 (GRCm39) |
Y515C |
probably damaging |
Het |
Rgs12 |
A |
G |
5: 35,124,079 (GRCm39) |
K621E |
possibly damaging |
Het |
Rnf6 |
G |
A |
5: 146,148,091 (GRCm39) |
T309I |
probably damaging |
Het |
Rpusd3 |
G |
T |
6: 113,392,523 (GRCm39) |
T335N |
probably damaging |
Het |
Scn8a |
A |
T |
15: 100,916,244 (GRCm39) |
I1218F |
probably damaging |
Het |
Slc23a1 |
T |
A |
18: 35,758,879 (GRCm39) |
Q104L |
possibly damaging |
Het |
Slc34a3 |
A |
T |
2: 25,120,999 (GRCm39) |
V363D |
probably damaging |
Het |
Smap1 |
A |
T |
1: 23,887,535 (GRCm39) |
M248K |
possibly damaging |
Het |
Sp1 |
A |
G |
15: 102,318,113 (GRCm39) |
|
probably null |
Het |
Tasor |
T |
A |
14: 27,183,744 (GRCm39) |
|
probably null |
Het |
Tbc1d1 |
T |
G |
5: 64,442,048 (GRCm39) |
N689K |
probably benign |
Het |
Tff2 |
T |
C |
17: 31,361,256 (GRCm39) |
E99G |
possibly damaging |
Het |
Tjp3 |
T |
C |
10: 81,116,378 (GRCm39) |
N239D |
possibly damaging |
Het |
Trim37 |
G |
A |
11: 87,050,651 (GRCm39) |
R230Q |
probably benign |
Het |
Ubr5 |
A |
G |
15: 37,989,546 (GRCm39) |
M2090T |
probably benign |
Het |
Unc13a |
T |
C |
8: 72,108,895 (GRCm39) |
|
probably null |
Het |
Usp43 |
GC |
G |
11: 67,746,566 (GRCm39) |
|
probably null |
Het |
Utrn |
C |
A |
10: 12,312,108 (GRCm39) |
D616Y |
probably damaging |
Het |
Vav2 |
T |
C |
2: 27,157,315 (GRCm39) |
E829G |
probably damaging |
Het |
Vps35l |
T |
C |
7: 118,393,762 (GRCm39) |
|
probably benign |
Het |
Zfp26 |
A |
T |
9: 20,353,533 (GRCm39) |
D85E |
probably benign |
Het |
Zfp292 |
A |
T |
4: 34,808,593 (GRCm39) |
F1484I |
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 |
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 |
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'- TCTCTGTCCCTGAAGATCTGG -3'
(R):5'- ACGTCTCTGAGCTCTAAGACTAAG -3'
Sequencing Primer
(F):5'- CCTGAAGATCTGGGTCTTCCG -3'
(R):5'- GTAACATTCCATTGTCACAAGCAGGG -3'
|
Posted On |
2014-09-18 |