Incidental Mutation 'R8821:Fan1'
ID |
673043 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fan1
|
Ensembl Gene |
ENSMUSG00000033458 |
Gene Name |
FANCD2/FANCI-associated nuclease 1 |
Synonyms |
Mtmr15, 6030441H18Rik |
MMRRC Submission |
068654-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8821 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
63996506-64023843 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 64004249 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 739
(P739L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163289]
|
AlphaFold |
Q69ZT1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163289
AA Change: P739L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130012 Gene: ENSMUSG00000033458 AA Change: P739L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (74/74) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A230072I06Rik |
A |
T |
8: 12,329,688 (GRCm39) |
I48L |
unknown |
Het |
Abca8a |
A |
T |
11: 109,949,362 (GRCm39) |
I927K |
probably damaging |
Het |
Abcc3 |
A |
C |
11: 94,241,787 (GRCm39) |
C1415G |
probably damaging |
Het |
Abcf3 |
C |
T |
16: 20,369,214 (GRCm39) |
R205C |
probably damaging |
Het |
Aldh3a1 |
A |
G |
11: 61,107,142 (GRCm39) |
Y282C |
probably damaging |
Het |
Alyref |
CCCGCGCGGCGGCCTGCACTGCGCCGCCGCGGCCGCCCTGGGAGCCGGCCCTGCCGCG |
CCCGCG |
11: 120,489,023 (GRCm39) |
|
probably null |
Het |
Arfgef3 |
A |
G |
10: 18,528,491 (GRCm39) |
S299P |
possibly damaging |
Het |
Asic2 |
A |
T |
11: 81,858,726 (GRCm39) |
N95K |
probably damaging |
Het |
Atp2c2 |
A |
G |
8: 120,476,033 (GRCm39) |
|
probably null |
Het |
Btbd18 |
A |
G |
2: 84,497,601 (GRCm39) |
D413G |
probably damaging |
Het |
C8b |
A |
G |
4: 104,647,874 (GRCm39) |
Y355C |
probably damaging |
Het |
Carm1 |
A |
G |
9: 21,491,663 (GRCm39) |
E244G |
probably damaging |
Het |
Castor2 |
T |
A |
5: 134,164,092 (GRCm39) |
V96E |
possibly damaging |
Het |
Catsperg1 |
A |
T |
7: 28,904,361 (GRCm39) |
|
probably benign |
Het |
Cish |
T |
A |
9: 107,177,671 (GRCm39) |
F116I |
probably damaging |
Het |
Ckmt1 |
G |
A |
2: 121,191,302 (GRCm39) |
|
probably benign |
Het |
Clasrp |
C |
T |
7: 19,320,362 (GRCm39) |
R432H |
unknown |
Het |
Clstn1 |
G |
A |
4: 149,730,780 (GRCm39) |
R837Q |
probably benign |
Het |
Col27a1 |
A |
G |
4: 63,143,148 (GRCm39) |
T279A |
probably benign |
Het |
Cox10 |
A |
G |
11: 63,855,306 (GRCm39) |
F325S |
probably damaging |
Het |
Cpne5 |
T |
C |
17: 29,430,668 (GRCm39) |
I81V |
probably benign |
Het |
Ctps1 |
A |
T |
4: 120,424,507 (GRCm39) |
S36T |
possibly damaging |
Het |
Dchs2 |
T |
C |
3: 83,192,670 (GRCm39) |
L1705P |
probably benign |
Het |
Dcstamp |
A |
G |
15: 39,618,185 (GRCm39) |
H198R |
probably benign |
Het |
Dhx58 |
T |
A |
11: 100,594,806 (GRCm39) |
K30M |
probably damaging |
Het |
Dnah1 |
C |
T |
14: 31,018,455 (GRCm39) |
A1392T |
probably benign |
Het |
Dnah14 |
C |
A |
1: 181,619,569 (GRCm39) |
Y3964* |
probably null |
Het |
Dnah8 |
T |
C |
17: 31,013,712 (GRCm39) |
S3818P |
probably damaging |
Het |
Dnmt3b |
T |
A |
2: 153,518,734 (GRCm39) |
N632K |
probably benign |
Het |
Drc7 |
G |
A |
8: 95,788,845 (GRCm39) |
R301Q |
probably damaging |
Het |
Dsg1a |
T |
C |
18: 20,453,365 (GRCm39) |
V21A |
probably damaging |
Het |
Dtd1 |
T |
C |
2: 144,459,261 (GRCm39) |
L95P |
probably benign |
Het |
Efhb |
A |
T |
17: 53,707,772 (GRCm39) |
|
probably benign |
Het |
Fam186b |
T |
A |
15: 99,178,733 (GRCm39) |
M198L |
possibly damaging |
Het |
Fam193a |
A |
G |
5: 34,616,374 (GRCm39) |
T850A |
probably benign |
Het |
Flii |
A |
T |
11: 60,616,074 (GRCm39) |
N28K |
probably benign |
Het |
Fmo3 |
T |
C |
1: 162,796,407 (GRCm39) |
Y55C |
probably damaging |
Het |
Gfi1 |
G |
A |
5: 107,868,138 (GRCm39) |
R377C |
probably damaging |
Het |
Gm9195 |
C |
T |
14: 72,717,536 (GRCm39) |
E266K |
possibly damaging |
Het |
Hdac1-ps |
T |
A |
17: 78,799,969 (GRCm39) |
L320Q |
probably damaging |
Het |
Helz |
A |
T |
11: 107,525,919 (GRCm39) |
M825L |
probably damaging |
Het |
Hsd3b9 |
A |
T |
3: 98,354,047 (GRCm39) |
W151R |
probably benign |
Het |
Ift80 |
G |
A |
3: 68,869,583 (GRCm39) |
A236V |
probably damaging |
Het |
Il1rn |
A |
T |
2: 24,239,505 (GRCm39) |
T134S |
possibly damaging |
Het |
Imp4 |
T |
C |
1: 34,483,445 (GRCm39) |
M257T |
probably benign |
Het |
Impdh2 |
T |
C |
9: 108,441,957 (GRCm39) |
L377S |
probably damaging |
Het |
Kcnrg |
T |
C |
14: 61,844,981 (GRCm39) |
V7A |
possibly damaging |
Het |
Kdm1b |
C |
A |
13: 47,217,617 (GRCm39) |
L359I |
possibly damaging |
Het |
Lima1 |
T |
A |
15: 99,704,306 (GRCm39) |
T288S |
probably benign |
Het |
Lrrc37 |
A |
T |
11: 103,510,470 (GRCm39) |
D499E |
unknown |
Het |
Lrrc4c |
A |
T |
2: 97,460,040 (GRCm39) |
D222V |
possibly damaging |
Het |
Mybpc3 |
T |
A |
2: 90,948,524 (GRCm39) |
V4E |
probably null |
Het |
Ncor1 |
A |
T |
11: 62,260,234 (GRCm39) |
D505E |
probably benign |
Het |
Nell1 |
A |
G |
7: 50,476,097 (GRCm39) |
S579G |
probably damaging |
Het |
Npc1 |
T |
A |
18: 12,333,877 (GRCm39) |
M735L |
probably benign |
Het |
Or1j13 |
G |
A |
2: 36,369,794 (GRCm39) |
T116I |
possibly damaging |
Het |
Or2at4 |
A |
G |
7: 99,384,893 (GRCm39) |
H181R |
possibly damaging |
Het |
Or4a73 |
A |
G |
2: 89,420,880 (GRCm39) |
I193T |
probably damaging |
Het |
Pcdhb12 |
A |
G |
18: 37,570,386 (GRCm39) |
M511V |
probably benign |
Het |
Peli2 |
G |
A |
14: 48,490,130 (GRCm39) |
E201K |
possibly damaging |
Het |
Phf3 |
T |
A |
1: 30,860,347 (GRCm39) |
K828* |
probably null |
Het |
Pih1d1 |
A |
G |
7: 44,806,196 (GRCm39) |
D44G |
possibly damaging |
Het |
Prag1 |
A |
T |
8: 36,613,891 (GRCm39) |
T1148S |
probably benign |
Het |
Ptpn18 |
A |
T |
1: 34,511,271 (GRCm39) |
R338W |
probably null |
Het |
Slc7a6os |
A |
T |
8: 106,937,189 (GRCm39) |
D90E |
probably benign |
Het |
Sp7 |
T |
A |
15: 102,267,227 (GRCm39) |
H211L |
possibly damaging |
Het |
Ssh3 |
A |
G |
19: 4,319,053 (GRCm39) |
V19A |
possibly damaging |
Het |
Tcp11l2 |
A |
G |
10: 84,449,522 (GRCm39) |
I496V |
probably damaging |
Het |
Tenm3 |
C |
T |
8: 48,729,417 (GRCm39) |
A1530T |
|
Het |
Tmem232 |
A |
G |
17: 65,743,367 (GRCm39) |
L308P |
probably damaging |
Het |
Tulp4 |
A |
G |
17: 6,189,409 (GRCm39) |
N77S |
probably damaging |
Het |
Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
Usp48 |
A |
T |
4: 137,341,080 (GRCm39) |
D360V |
probably damaging |
Het |
Vmn2r84 |
G |
A |
10: 130,226,968 (GRCm39) |
A290V |
probably benign |
Het |
Zfp1007 |
A |
T |
5: 109,824,174 (GRCm39) |
S425R |
probably benign |
Het |
Zfp512b |
T |
C |
2: 181,228,525 (GRCm39) |
N738S |
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 |
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 |
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'- CGTTTAAATCAAGGGCACAGC -3'
(R):5'- AGACCTAAGGAAATAGCCTGCC -3'
Sequencing Primer
(F):5'- AGGCCTGGGTTTAACCAAC -3'
(R):5'- TAAGGAAATAGCCTGCCTTTCTCCAG -3'
|
Posted On |
2021-04-30 |