Incidental Mutation 'R2873:Fan1'
ID |
260412 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fan1
|
Ensembl Gene |
ENSMUSG00000033458 |
Gene Name |
FANCD2/FANCI-associated nuclease 1 |
Synonyms |
Mtmr15, 6030441H18Rik |
MMRRC Submission |
040461-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2873 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
63996506-64023843 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64012938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 668
(I668T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163289]
|
AlphaFold |
Q69ZT1 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107514
AA Change: I701T
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163289
AA Change: I668T
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000130012 Gene: ENSMUSG00000033458 AA Change: I668T
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 benign
Transcript: ENSMUST00000177443
AA Change: I668T
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000135335 Gene: ENSMUSG00000033458 AA Change: I668T
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: ENSMUST00000206778
|
Meta Mutation Damage Score |
0.0942 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (81/81) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,846,002 (GRCm39) |
C811R |
possibly damaging |
Het |
Acvr1 |
G |
A |
2: 58,367,808 (GRCm39) |
Q118* |
probably null |
Het |
Als2 |
A |
G |
1: 59,250,296 (GRCm39) |
S483P |
probably damaging |
Het |
Ankrd40 |
T |
C |
11: 94,224,771 (GRCm39) |
V60A |
possibly damaging |
Het |
Armc2 |
C |
T |
10: 41,842,696 (GRCm39) |
|
probably null |
Het |
Atp12a |
A |
G |
14: 56,624,407 (GRCm39) |
R952G |
possibly damaging |
Het |
Atp13a2 |
T |
C |
4: 140,730,294 (GRCm39) |
I773T |
probably benign |
Het |
Atp6v1g1 |
A |
G |
4: 63,468,258 (GRCm39) |
Y87C |
probably benign |
Het |
Ccdc162 |
G |
T |
10: 41,531,095 (GRCm39) |
T537N |
possibly damaging |
Het |
Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
Cd101 |
A |
T |
3: 100,911,164 (GRCm39) |
D831E |
probably benign |
Het |
Ch25h |
T |
A |
19: 34,452,210 (GRCm39) |
H106L |
probably benign |
Het |
Chek2 |
C |
A |
5: 111,011,202 (GRCm39) |
Y333* |
probably null |
Het |
Cimap1d |
G |
A |
10: 79,481,487 (GRCm39) |
T14I |
probably benign |
Het |
Csmd2 |
T |
C |
4: 128,451,511 (GRCm39) |
F113S |
unknown |
Het |
Cyp4a14 |
C |
A |
4: 115,344,498 (GRCm39) |
G456W |
probably damaging |
Het |
Cyp4a30b |
A |
G |
4: 115,315,559 (GRCm39) |
H260R |
possibly damaging |
Het |
Dennd2b |
A |
T |
7: 109,156,637 (GRCm39) |
Y38N |
probably benign |
Het |
Eif4enif1 |
C |
T |
11: 3,192,586 (GRCm39) |
P805S |
probably damaging |
Het |
Flnc |
A |
G |
6: 29,447,542 (GRCm39) |
D1115G |
probably damaging |
Het |
Ftdc1 |
A |
T |
16: 58,434,342 (GRCm39) |
I125K |
probably benign |
Het |
Gbp11 |
C |
T |
5: 105,478,866 (GRCm39) |
D191N |
probably benign |
Het |
Gm5519 |
A |
C |
19: 33,802,410 (GRCm39) |
D151A |
possibly damaging |
Het |
Grid2ip |
C |
A |
5: 143,343,684 (GRCm39) |
Q127K |
probably benign |
Het |
Hdhd2 |
T |
C |
18: 77,042,702 (GRCm39) |
F44L |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,614,467 (GRCm39) |
V1313D |
possibly damaging |
Het |
Kpna7 |
T |
C |
5: 144,930,745 (GRCm39) |
T367A |
probably benign |
Het |
Matr3 |
T |
A |
18: 35,705,349 (GRCm39) |
S91R |
probably benign |
Het |
Mdm1 |
A |
G |
10: 117,986,847 (GRCm39) |
T267A |
probably benign |
Het |
Mlxip |
A |
G |
5: 123,590,730 (GRCm39) |
M878V |
probably benign |
Het |
Mtor |
T |
A |
4: 148,624,487 (GRCm39) |
M2089K |
probably benign |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Ndufs1 |
A |
G |
1: 63,203,882 (GRCm39) |
|
probably benign |
Het |
Nlrp4b |
C |
T |
7: 10,444,170 (GRCm39) |
Q40* |
probably null |
Het |
Nomo1 |
C |
A |
7: 45,696,361 (GRCm39) |
T293N |
probably damaging |
Het |
Notch1 |
A |
G |
2: 26,350,247 (GRCm39) |
C2298R |
possibly damaging |
Het |
Notum |
A |
G |
11: 120,551,022 (GRCm39) |
V48A |
probably benign |
Het |
Or10g1 |
T |
G |
14: 52,648,318 (GRCm39) |
T4P |
probably benign |
Het |
Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
Or6c211 |
A |
T |
10: 129,505,628 (GRCm39) |
C253* |
probably null |
Het |
Ostc |
T |
C |
3: 130,497,157 (GRCm39) |
N80S |
probably damaging |
Het |
Palmd |
T |
C |
3: 116,717,400 (GRCm39) |
R366G |
possibly damaging |
Het |
Parp1 |
A |
G |
1: 180,401,230 (GRCm39) |
D45G |
probably damaging |
Het |
Pcdhga9 |
T |
A |
18: 37,870,524 (GRCm39) |
Y118N |
possibly damaging |
Het |
Pes1 |
C |
A |
11: 3,926,834 (GRCm39) |
T372K |
probably benign |
Het |
Plcl1 |
A |
T |
1: 55,736,309 (GRCm39) |
D550V |
probably benign |
Het |
Plekhg5 |
T |
A |
4: 152,191,960 (GRCm39) |
C433S |
probably benign |
Het |
Plin2 |
A |
G |
4: 86,586,915 (GRCm39) |
M1T |
probably null |
Het |
Pms2 |
G |
A |
5: 143,848,732 (GRCm39) |
|
probably benign |
Het |
Ppp1r7 |
T |
A |
1: 93,285,585 (GRCm39) |
|
probably null |
Het |
Psmb8 |
T |
C |
17: 34,419,144 (GRCm39) |
I146T |
probably damaging |
Het |
Ptger4 |
T |
C |
15: 5,264,286 (GRCm39) |
R457G |
probably benign |
Het |
Pzp |
A |
T |
6: 128,462,519 (GRCm39) |
|
probably null |
Het |
Ralgds |
A |
G |
2: 28,438,781 (GRCm39) |
|
probably null |
Het |
Rnf6 |
T |
C |
5: 146,147,215 (GRCm39) |
Y601C |
probably benign |
Het |
Sgk2 |
A |
G |
2: 162,836,449 (GRCm39) |
|
probably benign |
Het |
Shoc1 |
A |
C |
4: 59,093,850 (GRCm39) |
L226R |
probably damaging |
Het |
Slc39a8 |
T |
A |
3: 135,592,554 (GRCm39) |
|
probably null |
Het |
Slc4a4 |
G |
T |
5: 89,283,623 (GRCm39) |
V481L |
probably damaging |
Het |
Slc5a8 |
A |
G |
10: 88,740,825 (GRCm39) |
I247V |
probably benign |
Het |
Slit3 |
G |
T |
11: 35,435,620 (GRCm39) |
E184* |
probably null |
Het |
Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
St7 |
C |
T |
6: 17,819,276 (GRCm39) |
P60L |
probably damaging |
Het |
Tafa2 |
A |
T |
10: 123,540,270 (GRCm39) |
H42L |
possibly damaging |
Het |
Tbc1d8 |
A |
G |
1: 39,444,398 (GRCm39) |
F187S |
probably damaging |
Het |
Tet2 |
C |
T |
3: 133,192,715 (GRCm39) |
G573E |
probably damaging |
Het |
Tnni3k |
C |
T |
3: 154,644,387 (GRCm39) |
|
probably null |
Het |
Trpa1 |
A |
G |
1: 14,957,844 (GRCm39) |
C705R |
probably damaging |
Het |
Usp9y |
T |
A |
Y: 1,310,502 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
A |
C |
7: 84,882,834 (GRCm39) |
M306R |
probably benign |
Het |
Vwa7 |
G |
A |
17: 35,240,218 (GRCm39) |
M395I |
probably damaging |
Het |
Ybx3 |
G |
A |
6: 131,347,376 (GRCm39) |
A253V |
probably damaging |
Het |
Zfp53 |
A |
T |
17: 21,728,340 (GRCm39) |
E124D |
probably benign |
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 |
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'- GTAACTGAGTCTCCCACCAAGC -3'
(R):5'- CTCTCCTAGCATCCTGAGACAG -3'
Sequencing Primer
(F):5'- AGCTCCGAGACCCAGGTAAG -3'
(R):5'- TGAGACAGGGGCTTGGC -3'
|
Posted On |
2015-01-23 |