Incidental Mutation 'R7731:Fan1'
ID 595830
Institutional Source Beutler Lab
Gene Symbol Fan1
Ensembl Gene ENSMUSG00000033458
Gene Name FANCD2/FANCI-associated nuclease 1
Synonyms Mtmr15, 6030441H18Rik
MMRRC Submission 045787-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7731 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 63996506-64023843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 64022444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 270 (V270I)
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 probably benign
Transcript: ENSMUST00000163289
AA Change: V270I

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000130012
Gene: ENSMUSG00000033458
AA Change: V270I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt A G 9: 99,502,470 (GRCm39) E210G possibly damaging Het
Accsl T C 2: 93,691,363 (GRCm39) T372A probably benign Het
Adgrf5 T A 17: 43,761,451 (GRCm39) S1049T probably damaging Het
Agmo G A 12: 37,464,939 (GRCm39) R405K probably benign Het
Akap3 A G 6: 126,842,031 (GRCm39) T217A probably benign Het
Ankfy1 T A 11: 72,603,107 (GRCm39) N45K probably benign Het
Ankrd11 G A 8: 123,622,172 (GRCm39) T560I probably benign Het
Aqp1 T C 6: 55,322,804 (GRCm39) Y186H possibly damaging Het
Arhgef18 G A 8: 3,434,936 (GRCm39) V194M probably damaging Het
Arnt T C 3: 95,391,086 (GRCm39) V320A probably benign Het
B230217C12Rik T C 11: 97,732,226 (GRCm39) L2P unknown Het
Bco1 C A 8: 117,857,807 (GRCm39) S477R possibly damaging Het
Brd4 A G 17: 32,430,198 (GRCm39) S703P possibly damaging Het
Ceacam3 T A 7: 16,892,275 (GRCm39) N339K Het
Cebpb A G 2: 167,531,126 (GRCm39) D62G probably damaging Het
Clca4a T C 3: 144,658,546 (GRCm39) I890V probably benign Het
Cyp2d9 A G 15: 82,339,633 (GRCm39) probably null Het
Cyth1 T C 11: 118,059,879 (GRCm39) T374A possibly damaging Het
Dennd3 A T 15: 73,434,216 (GRCm39) H962L probably damaging Het
Dhtkd1 T G 2: 5,928,923 (GRCm39) L249F probably benign Het
Dnah7b T A 1: 46,178,905 (GRCm39) H859Q probably benign Het
E2f4 A G 8: 106,025,265 (GRCm39) D115G probably damaging Het
Eif4a3l1 A G 6: 136,305,871 (GRCm39) I111V probably benign Het
Exoc3l4 G C 12: 111,397,182 (GRCm39) D688H possibly damaging Het
Fat2 A T 11: 55,201,532 (GRCm39) I514N probably damaging Het
Fndc1 G A 17: 7,992,271 (GRCm39) T475I unknown Het
Fstl5 T A 3: 76,569,069 (GRCm39) I574N probably damaging Het
Fzd4 T C 7: 89,057,258 (GRCm39) V435A possibly damaging Het
Fzd6 T C 15: 38,897,327 (GRCm39) F492S probably damaging Het
Gm4924 T A 10: 82,213,361 (GRCm39) N386K unknown Het
Hbp1 A T 12: 31,983,367 (GRCm39) D362E possibly damaging Het
Hectd4 A C 5: 121,445,077 (GRCm39) M105L probably benign Het
Hivep2 C T 10: 14,025,458 (GRCm39) P2424L probably benign Het
Hspa4 A T 11: 53,157,791 (GRCm39) probably null Het
Igf2bp3 A G 6: 49,111,665 (GRCm39) V122A probably damaging Het
Ikzf2 A T 1: 69,578,302 (GRCm39) N402K possibly damaging Het
Ip6k1 T C 9: 107,921,927 (GRCm39) F207S probably damaging Het
Kbtbd8 C A 6: 95,095,559 (GRCm39) N24K probably benign Het
Krtap10-4 T G 10: 77,662,654 (GRCm39) T75P unknown Het
Macf1 C A 4: 123,338,672 (GRCm39) S4355I probably benign Het
Muc5b A T 7: 141,411,042 (GRCm39) probably null Het
Myo3a G A 2: 22,287,400 (GRCm39) V179M probably damaging Het
Nup210 G T 6: 91,048,870 (GRCm39) T462K possibly damaging Het
Or11g27 T A 14: 50,771,141 (GRCm39) S91T probably damaging Het
Or1l4 A G 2: 37,091,561 (GRCm39) M103V probably benign Het
Or51f5 A G 7: 102,424,141 (GRCm39) I137V probably benign Het
Or5j1 T C 2: 86,879,578 (GRCm39) M1V probably null Het
Or8b53 A G 9: 38,667,542 (GRCm39) Q186R possibly damaging Het
Ostn G A 16: 27,165,668 (GRCm39) R119Q probably damaging Het
Pcdhga11 A T 18: 37,889,564 (GRCm39) N191Y probably benign Het
Pcsk6 A T 7: 65,683,641 (GRCm39) Q752L probably benign Het
Pfas T C 11: 68,890,871 (GRCm39) T347A probably damaging Het
Pkd1 A T 17: 24,792,872 (GRCm39) R1520W probably damaging Het
Pphln1-ps1 C T 16: 13,495,623 (GRCm39) R241C probably damaging Het
Prpf8 T C 11: 75,399,732 (GRCm39) S2264P probably damaging Het
Ptcd1 C A 5: 145,088,174 (GRCm39) R612S probably benign Het
Ptch2 T A 4: 116,965,492 (GRCm39) F359Y probably benign Het
Ptprr A C 10: 116,073,200 (GRCm39) D474A probably damaging Het
Pum1 C A 4: 130,490,274 (GRCm39) Q846K probably benign Het
Slc22a14 C T 9: 118,999,677 (GRCm39) A505T possibly damaging Het
Smpdl3a A G 10: 57,678,650 (GRCm39) Y151C probably damaging Het
Snrnp200 A G 2: 127,071,022 (GRCm39) N1101S probably benign Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Sptlc1 A G 13: 53,487,993 (GRCm39) V450A probably benign Het
Sqle A G 15: 59,187,821 (GRCm39) Y43C probably benign Het
Srgap3 T C 6: 112,743,858 (GRCm39) H460R probably benign Het
Syt15 A T 14: 33,945,024 (GRCm39) E190D possibly damaging Het
Tbc1d10b T C 7: 126,797,993 (GRCm39) K716R probably benign Het
Tbx20 T C 9: 24,681,993 (GRCm39) I120M probably damaging Het
Tgm1 T G 14: 55,947,978 (GRCm39) I274L probably benign Het
Tmem156 C T 5: 65,232,905 (GRCm39) probably null Het
Tnk2 A G 16: 32,488,952 (GRCm39) D264G possibly damaging Het
Tsc22d4 A G 5: 137,756,956 (GRCm39) S306G possibly damaging Het
Tut1 T A 19: 8,936,626 (GRCm39) V150D probably benign Het
Uchl5 T C 1: 143,670,275 (GRCm39) F143L Het
Vmn1r23 T C 6: 57,903,319 (GRCm39) K153R probably benign Het
Zfp236 A T 18: 82,698,798 (GRCm39) D94E probably benign Het
Zfp759 T C 13: 67,287,690 (GRCm39) Y414H possibly damaging 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
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
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'- ACTCCACGTAGTCATGTCAGAC -3'
(R):5'- GGTTTTGAACAGTTCCCAAAAGG -3'

Sequencing Primer
(F):5'- GTCAACATCGGTAGGACCATTTG -3'
(R):5'- GGAAAACATTTATTCATGTGCACCTC -3'
Posted On 2019-11-12