Incidental Mutation 'R3849:Fan1'
ID 275815
Institutional Source Beutler Lab
Gene Symbol Fan1
Ensembl Gene ENSMUSG00000033458
Gene Name FANCD2/FANCI-associated nuclease 1
Synonyms Mtmr15, 6030441H18Rik
MMRRC Submission 040897-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3849 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 63996506-64023843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64022119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 378 (Y378C)
Ref Sequence ENSEMBL: ENSMUSP00000130012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032735] [ENSMUST00000163289]
AlphaFold Q69ZT1
Predicted Effect probably benign
Transcript: ENSMUST00000032735
SMART Domains Protein: ENSMUSP00000032735
Gene: ENSMUSG00000030521

DomainStartEndE-ValueType
Pfam:Mpp10 20 654 6.9e-217 PFAM
low complexity region 666 671 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107514
AA Change: Y411C
Predicted Effect probably damaging
Transcript: ENSMUST00000163289
AA Change: Y378C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130012
Gene: ENSMUSG00000033458
AA Change: Y378C

DomainStartEndE-ValueType
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: Y378C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135335
Gene: ENSMUSG00000033458
AA Change: Y378C

DomainStartEndE-ValueType
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 0.8207 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (52/52)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik A T 7: 136,978,069 (GRCm39) N102K possibly damaging Het
Abca1 C T 4: 53,061,481 (GRCm39) probably benign Het
Adamts17 T A 7: 66,490,215 (GRCm39) L99Q possibly damaging Het
Adamtsl1 A T 4: 86,336,783 (GRCm39) Q1564L probably damaging Het
Aspm T A 1: 139,386,024 (GRCm39) V556E probably benign Het
Axin1 T A 17: 26,406,771 (GRCm39) Y455N probably benign Het
Cacna2d3 A G 14: 29,069,077 (GRCm39) probably null Het
Car8 T A 4: 8,189,353 (GRCm39) I154F probably benign Het
Ccl27a T A 4: 41,773,232 (GRCm39) T76S probably benign Het
Cep170 G A 1: 176,583,409 (GRCm39) A990V probably benign Het
Chd1 A T 17: 15,952,133 (GRCm39) T291S probably damaging Het
Col3a1 C A 1: 45,361,150 (GRCm39) P112T unknown Het
Cpa4 T C 6: 30,590,872 (GRCm39) F390S probably damaging Het
Cul5 T G 9: 53,529,286 (GRCm39) M800L probably benign Het
Dst C T 1: 34,251,400 (GRCm39) S4165F probably damaging Het
Dusp8 T C 7: 141,643,802 (GRCm39) E37G probably damaging Het
Efr3b T C 12: 4,033,414 (GRCm39) N131S probably benign Het
Fcgr2b T C 1: 170,795,704 (GRCm39) N75S possibly damaging Het
Foxp4 A G 17: 48,186,453 (GRCm39) I442T unknown Het
Gp9 A G 6: 87,756,133 (GRCm39) I49M probably benign Het
Grip1 G A 10: 119,765,863 (GRCm39) G65D probably damaging Het
Hoxc10 T C 15: 102,875,879 (GRCm39) V196A probably benign Het
Hpx A G 7: 105,245,498 (GRCm39) C92R probably damaging Het
Ighv1-22 A G 12: 114,710,301 (GRCm39) F9S possibly damaging Het
Kif24 C T 4: 41,404,734 (GRCm39) R422H probably damaging Het
Klk1b1 T C 7: 43,618,751 (GRCm39) Y43H probably damaging Het
Lmo7 A G 14: 102,159,531 (GRCm39) probably null Het
Lrguk A G 6: 34,050,703 (GRCm39) D387G probably damaging Het
Lysmd1 G A 3: 95,045,772 (GRCm39) G203D probably damaging Het
Mpnd T C 17: 56,318,692 (GRCm39) S150P probably damaging Het
Mrc2 T C 11: 105,183,729 (GRCm39) probably null Het
Mtr A G 13: 12,262,251 (GRCm39) S152P probably benign Het
Naip2 A T 13: 100,315,940 (GRCm39) L280Q probably damaging Het
Naip2 G C 13: 100,315,941 (GRCm39) L280V probably damaging Het
Ndufa13 T C 8: 70,354,260 (GRCm39) D9G probably damaging Het
Nek1 T A 8: 61,525,349 (GRCm39) F596I probably damaging Het
Nsd1 A G 13: 55,394,504 (GRCm39) T702A probably benign Het
Or7d10 A T 9: 19,832,105 (GRCm39) Y200F probably damaging Het
Pam T A 1: 97,782,481 (GRCm39) probably benign Het
Plxna1 C A 6: 89,333,501 (GRCm39) R376L probably damaging Het
Plxnc1 A G 10: 94,630,294 (GRCm39) V1535A probably benign Het
Prdx5 A G 19: 6,884,218 (GRCm39) L166P probably damaging Het
Prol1 A T 5: 88,476,476 (GRCm39) I289F unknown Het
Prss23 T C 7: 89,158,959 (GRCm39) Y370C probably damaging Het
Rimbp3 A T 16: 17,028,163 (GRCm39) H529L probably benign Het
Rnase2b T A 14: 51,400,205 (GRCm39) H95Q probably damaging Het
Rnf103 C G 6: 71,485,859 (GRCm39) C163W probably damaging Het
Rnf17 T C 14: 56,749,753 (GRCm39) V1433A probably damaging Het
Rusf1 C T 7: 127,884,380 (GRCm39) V201I probably damaging Het
Syne2 C T 12: 76,092,839 (GRCm39) Q5150* probably null Het
Tas2r110 T A 6: 132,845,638 (GRCm39) I223N probably damaging Het
Tead2 T A 7: 44,881,752 (GRCm39) probably null Het
Vwa3a A T 7: 120,361,687 (GRCm39) K133* probably null Het
Vwce T C 19: 10,624,269 (GRCm39) S387P probably damaging Het
Zbtb41 T A 1: 139,351,734 (GRCm39) H282Q probably benign Het
Other mutations in Fan1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATCAGACTACTTACTGGCCCTC -3'
(R):5'- AAATGACTTTCGATGCTGCG -3'

Sequencing Primer
(F):5'- TACTGGCCCTCCCATGG -3'
(R):5'- TTTCGATGCTGCGGCCAAAAC -3'
Posted On 2015-04-06