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) question?
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

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: 99.1%
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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