Incidental Mutation 'R5902:Fan1'
ID |
456381 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fan1
|
Ensembl Gene |
ENSMUSG00000033458 |
Gene Name |
FANCD2/FANCI-associated nuclease 1 |
Synonyms |
Mtmr15, 6030441H18Rik |
MMRRC Submission |
044100-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5902 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
63996506-64023843 bp(-) (GRCm39) |
Type of Mutation |
splice site (3205 bp from exon) |
DNA Base Change (assembly) |
T to C
at 64023070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032735
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032735]
[ENSMUST00000163289]
|
AlphaFold |
Q69ZT1 |
Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000107514
AA Change: D94G
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123627
AA Change: *198W
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163289
AA Change: D61G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130012 Gene: ENSMUSG00000033458 AA Change: D61G
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 |
0.4558 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.1%
|
Validation Efficiency |
99% (81/82) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
G |
2: 68,539,281 (GRCm39) |
M1V |
probably null |
Het |
Abca13 |
T |
A |
11: 9,247,177 (GRCm39) |
L2308H |
probably damaging |
Het |
Abcc8 |
T |
C |
7: 45,764,463 (GRCm39) |
T1161A |
probably benign |
Het |
Acin1 |
T |
A |
14: 54,901,130 (GRCm39) |
T659S |
probably benign |
Het |
Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Alkbh8 |
A |
G |
9: 3,385,414 (GRCm39) |
K569E |
probably benign |
Het |
Anxa3 |
A |
T |
5: 96,960,712 (GRCm39) |
K39* |
probably null |
Het |
Aoc2 |
A |
G |
11: 101,220,072 (GRCm39) |
E659G |
probably damaging |
Het |
Atg7 |
C |
T |
6: 114,650,639 (GRCm39) |
T83M |
possibly damaging |
Het |
AU022252 |
T |
C |
4: 119,084,101 (GRCm39) |
D104G |
probably benign |
Het |
Car6 |
T |
C |
4: 150,271,956 (GRCm39) |
Y231C |
possibly damaging |
Het |
Cdh10 |
T |
G |
15: 18,985,341 (GRCm39) |
|
probably null |
Het |
Cebpz |
A |
C |
17: 79,233,366 (GRCm39) |
M787R |
probably benign |
Het |
Chst2 |
A |
G |
9: 95,287,662 (GRCm39) |
L228P |
probably damaging |
Het |
Clic4 |
T |
C |
4: 134,999,869 (GRCm39) |
K11R |
probably benign |
Het |
Col6a3 |
C |
T |
1: 90,729,921 (GRCm39) |
|
probably null |
Het |
Commd7 |
T |
A |
2: 153,463,737 (GRCm39) |
T144S |
probably damaging |
Het |
Ctla2a |
T |
A |
13: 61,082,834 (GRCm39) |
*138Y |
probably null |
Het |
Dhx33 |
A |
T |
11: 70,879,957 (GRCm39) |
V351D |
probably damaging |
Het |
Dnah9 |
G |
A |
11: 65,916,013 (GRCm39) |
T2313I |
probably benign |
Het |
Dspp |
A |
T |
5: 104,325,977 (GRCm39) |
D780V |
unknown |
Het |
Dync1li1 |
A |
G |
9: 114,546,929 (GRCm39) |
|
probably null |
Het |
E2f3 |
C |
T |
13: 30,169,250 (GRCm39) |
|
probably benign |
Het |
Gart |
A |
G |
16: 91,425,415 (GRCm39) |
S617P |
probably damaging |
Het |
Ggcx |
A |
G |
6: 72,406,979 (GRCm39) |
N705S |
possibly damaging |
Het |
Gm4841 |
A |
T |
18: 60,403,868 (GRCm39) |
V75E |
probably damaging |
Het |
Greb1l |
A |
G |
18: 10,538,302 (GRCm39) |
E1105G |
probably benign |
Het |
Hr |
C |
A |
14: 70,795,231 (GRCm39) |
Q288K |
probably benign |
Het |
Hus1 |
T |
C |
11: 8,960,669 (GRCm39) |
|
probably benign |
Het |
Ifi47 |
C |
A |
11: 48,986,213 (GRCm39) |
|
probably null |
Het |
Irf2bp1 |
T |
C |
7: 18,738,372 (GRCm39) |
V4A |
probably benign |
Het |
Kprp |
C |
T |
3: 92,731,835 (GRCm39) |
C405Y |
unknown |
Het |
Lacc1 |
T |
C |
14: 77,272,239 (GRCm39) |
I186V |
possibly damaging |
Het |
Lifr |
A |
G |
15: 7,220,231 (GRCm39) |
T954A |
probably benign |
Het |
Lonrf2 |
T |
C |
1: 38,846,174 (GRCm39) |
M333V |
probably benign |
Het |
Mthfd1 |
A |
T |
12: 76,337,826 (GRCm39) |
H400L |
probably benign |
Het |
Myh4 |
A |
G |
11: 67,141,733 (GRCm39) |
K864R |
possibly damaging |
Het |
Nup50 |
C |
T |
15: 84,819,641 (GRCm39) |
A305V |
probably benign |
Het |
Or4a74 |
T |
A |
2: 89,439,595 (GRCm39) |
I284L |
probably damaging |
Het |
Or4k44 |
C |
T |
2: 111,367,739 (GRCm39) |
M298I |
probably benign |
Het |
Pax4 |
G |
T |
6: 28,447,126 (GRCm39) |
Q3K |
probably benign |
Het |
Pced1b |
T |
G |
15: 97,282,970 (GRCm39) |
Y336* |
probably null |
Het |
Postn |
C |
A |
3: 54,279,510 (GRCm39) |
N329K |
probably benign |
Het |
Prickle1 |
T |
C |
15: 93,408,553 (GRCm39) |
E82G |
probably null |
Het |
Prtn3 |
T |
C |
10: 79,718,766 (GRCm39) |
Y241H |
probably damaging |
Het |
Rasgrf2 |
A |
T |
13: 92,068,011 (GRCm39) |
I260K |
probably damaging |
Het |
Sh3glb1 |
T |
C |
3: 144,418,431 (GRCm39) |
N44S |
possibly damaging |
Het |
Sis |
A |
T |
3: 72,867,589 (GRCm39) |
|
probably null |
Het |
Slc4a9 |
A |
G |
18: 36,662,386 (GRCm39) |
|
probably null |
Het |
Slc4a9 |
A |
T |
18: 36,664,560 (GRCm39) |
D406V |
probably damaging |
Het |
Slc8a1 |
C |
T |
17: 81,715,511 (GRCm39) |
G841R |
probably damaging |
Het |
Smn1 |
C |
T |
13: 100,263,412 (GRCm39) |
P60L |
probably benign |
Het |
Snai1 |
G |
A |
2: 167,383,930 (GRCm39) |
C241Y |
probably damaging |
Het |
Spock3 |
A |
G |
8: 63,808,336 (GRCm39) |
D411G |
unknown |
Het |
Szt2 |
T |
A |
4: 118,248,700 (GRCm39) |
T607S |
probably benign |
Het |
Tcap |
A |
T |
11: 98,274,673 (GRCm39) |
M1L |
probably benign |
Het |
Tex29 |
A |
T |
8: 11,905,723 (GRCm39) |
|
probably benign |
Het |
Tex29 |
C |
A |
8: 11,904,276 (GRCm39) |
|
probably benign |
Het |
Tex29 |
C |
T |
8: 11,904,277 (GRCm39) |
|
probably benign |
Het |
Tln2 |
T |
C |
9: 67,269,999 (GRCm39) |
T467A |
probably benign |
Het |
Trim34a |
C |
T |
7: 103,910,328 (GRCm39) |
Q377* |
probably null |
Het |
Ube2q1 |
T |
A |
3: 89,683,487 (GRCm39) |
L144* |
probably null |
Het |
Vps13c |
A |
G |
9: 67,841,729 (GRCm39) |
E1917G |
probably benign |
Het |
Wdr19 |
T |
A |
5: 65,384,482 (GRCm39) |
N525K |
probably benign |
Het |
Wdr3 |
A |
T |
3: 100,051,807 (GRCm39) |
|
probably benign |
Het |
Wnt5b |
T |
A |
6: 119,425,199 (GRCm39) |
H6L |
probably benign |
Het |
Yju2 |
A |
G |
17: 56,269,077 (GRCm39) |
T62A |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,345,685 (GRCm39) |
S1355P |
possibly damaging |
Het |
Zfp11 |
T |
A |
5: 129,734,976 (GRCm39) |
I162F |
probably damaging |
Het |
Zpbp |
T |
C |
11: 11,365,332 (GRCm39) |
T172A |
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 |
|
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'- AAGTAGGGACTGGTCTGCTG -3'
(R):5'- TAATAGTCATGCCGTCACAAAGG -3'
Sequencing Primer
(F):5'- CCAGTTTTGAACCACATTGGACAG -3'
(R):5'- TAGTCATGCCGTCACAAAGGAAATC -3'
|
Posted On |
2017-02-15 |