Incidental Mutation 'R4948:Fancm'
ID 383606
Institutional Source Beutler Lab
Gene Symbol Fancm
Ensembl Gene ENSMUSG00000055884
Gene Name Fanconi anemia, complementation group M
Synonyms D12Ertd364e, C730036B14Rik
MMRRC Submission 042545-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R4948 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 65122377-65178832 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65137748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 313 (D313G)
Ref Sequence ENSEMBL: ENSMUSP00000152854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058889] [ENSMUST00000222540]
AlphaFold Q8BGE5
Predicted Effect probably benign
Transcript: ENSMUST00000058889
AA Change: D313G

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: D313G

DomainStartEndE-ValueType
DEXDc 75 275 5.6e-25 SMART
Blast:DEXDc 295 323 9e-6 BLAST
low complexity region 339 348 N/A INTRINSIC
HELICc 475 566 5.64e-21 SMART
Pfam:FANCM-MHF_bd 657 770 8.5e-50 PFAM
low complexity region 850 866 N/A INTRINSIC
low complexity region 974 987 N/A INTRINSIC
low complexity region 1105 1120 N/A INTRINSIC
low complexity region 1165 1178 N/A INTRINSIC
PDB:4DAY|C 1207 1238 1e-6 PDB
low complexity region 1489 1506 N/A INTRINSIC
low complexity region 1572 1586 N/A INTRINSIC
low complexity region 1669 1682 N/A INTRINSIC
ERCC4 1780 1863 2.07e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000221937
Predicted Effect probably damaging
Transcript: ENSMUST00000222540
AA Change: D313G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223401
Meta Mutation Damage Score 0.1446 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 94% (103/109)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced female transmission, hypogonadism, premature death, and increased incidence of tumors. [provided by MGI curators]
Allele List at MGI

All alleles(39) : Targeted(4) Gene trapped(35)

Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A T 16: 16,936,154 (GRCm39) probably null Het
Adcy4 C T 14: 56,016,486 (GRCm39) D322N probably damaging Het
Alas1 A T 9: 106,124,077 (GRCm39) L27* probably null Het
Aldh1a7 A G 19: 20,704,374 (GRCm39) V40A possibly damaging Het
Appbp2 A T 11: 85,085,409 (GRCm39) I499K possibly damaging Het
B3gnt5 A C 16: 19,587,894 (GRCm39) M38L probably benign Het
Brd8 A G 18: 34,747,585 (GRCm39) V92A probably damaging Het
Btla A T 16: 45,063,091 (GRCm39) E151D probably benign Het
Cd79b T A 11: 106,203,687 (GRCm39) T67S probably benign Het
Cep192 A G 18: 67,949,875 (GRCm39) R320G probably benign Het
Chad A C 11: 94,456,528 (GRCm39) D202A probably damaging Het
Chil6 A G 3: 106,295,988 (GRCm39) probably benign Het
Cpz T C 5: 35,674,748 (GRCm39) E167G possibly damaging Het
Crisp2 T G 17: 41,076,159 (GRCm39) H225P probably damaging Het
Cyp2c23 T C 19: 44,010,138 (GRCm39) Y69C possibly damaging Het
Dcp1a T A 14: 30,201,724 (GRCm39) L49H probably damaging Het
Dnah6 T A 6: 73,030,672 (GRCm39) H3380L probably benign Het
Dnai3 T A 3: 145,788,820 (GRCm39) K254* probably null Het
Dnm2 A G 9: 21,415,829 (GRCm39) D721G possibly damaging Het
Dnpep G T 1: 75,293,404 (GRCm39) T15K probably benign Het
Dock3 A T 9: 106,868,354 (GRCm39) D643E probably damaging Het
Ear6 C T 14: 52,091,573 (GRCm39) T40I possibly damaging Het
Fbxw16 T A 9: 109,267,415 (GRCm39) E272V probably damaging Het
Frmd4b T A 6: 97,283,691 (GRCm39) E393D probably benign Het
Fryl T A 5: 73,246,473 (GRCm39) M1100L probably benign Het
Gjd3 T C 11: 102,691,247 (GRCm39) H252R probably damaging Het
Gm10518 T C 1: 179,631,477 (GRCm39) probably benign Het
Gna14 A G 19: 16,580,656 (GRCm39) M165V probably benign Het
Hells C A 19: 38,923,966 (GRCm39) Q72K probably damaging Het
Herc1 A G 9: 66,392,184 (GRCm39) I4031V probably benign Het
Hspa2 C T 12: 76,452,761 (GRCm39) A485V probably damaging Het
Ighv1-54 T A 12: 115,157,438 (GRCm39) I70F probably benign Het
Il20rb A T 9: 100,343,592 (GRCm39) probably benign Het
Irag1 A G 7: 110,487,236 (GRCm39) V498A probably damaging Het
Krt1 C A 15: 101,754,376 (GRCm39) V625L unknown Het
Lamc3 T C 2: 31,830,748 (GRCm39) I1495T probably benign Het
Larp6 A G 9: 60,645,063 (GRCm39) E401G possibly damaging Het
Ldha A T 7: 46,496,805 (GRCm39) H19L probably benign Het
Lrba A G 3: 86,192,335 (GRCm39) N83S probably damaging Het
Lrp4 G T 2: 91,316,231 (GRCm39) R783L probably benign Het
Lrrk2 T G 15: 91,687,592 (GRCm39) I2227S probably benign Het
Lvrn T C 18: 47,013,803 (GRCm39) L495P probably damaging Het
Macf1 T C 4: 123,391,548 (GRCm39) N1077S probably damaging Het
Mboat1 A G 13: 30,425,213 (GRCm39) T425A probably damaging Het
Mcam A G 9: 44,047,863 (GRCm39) E36G probably damaging Het
Meis1 T A 11: 18,966,308 (GRCm39) T22S probably benign Het
Micu1 A G 10: 59,699,076 (GRCm39) K451R possibly damaging Het
Nat8 A T 6: 85,807,505 (GRCm39) D209E probably benign Het
Nek10 T A 14: 14,860,986 (GRCm38) L513M possibly damaging Het
Nmral1 G A 16: 4,534,274 (GRCm39) R56* probably null Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or10j27 A G 1: 172,958,526 (GRCm39) V86A probably benign Het
Or5b99 A T 19: 12,977,195 (GRCm39) T282S probably benign Het
Or5g25 T C 2: 85,477,916 (GRCm39) I250V probably benign Het
Or5h24 G A 16: 58,919,340 (GRCm39) T5I probably damaging Het
Palm3 A T 8: 84,753,708 (GRCm39) R132* probably null Het
Pax2 A G 19: 44,804,479 (GRCm39) Y272C probably damaging Het
Phc2 G A 4: 128,616,908 (GRCm39) A394T probably benign Het
Phf2 C A 13: 48,961,198 (GRCm39) G831C unknown Het
Pik3c2b G A 1: 133,027,453 (GRCm39) probably null Het
Plin2 T A 4: 86,580,228 (GRCm39) I178F probably benign Het
Pramel32 A T 4: 88,547,185 (GRCm39) L162H probably damaging Het
Prdm14 T A 1: 13,192,855 (GRCm39) I295F probably damaging Het
Psmd5 C T 2: 34,760,795 (GRCm39) R47H probably benign Het
Ptchd3 T A 11: 121,733,342 (GRCm39) I744K probably damaging Het
Ptrh1 T A 2: 32,666,557 (GRCm39) probably benign Het
Rab6a A G 7: 100,277,627 (GRCm39) D49G probably damaging Het
Radil A T 5: 142,470,994 (GRCm39) D1062E probably benign Het
Robo2 A G 16: 74,149,726 (GRCm39) V34A possibly damaging Het
Sall3 G A 18: 81,014,626 (GRCm39) P1029S probably benign Het
Sec14l3 A G 11: 4,018,101 (GRCm39) D127G possibly damaging Het
Sel1l2 A G 2: 140,086,086 (GRCm39) Y502H probably damaging Het
Serpina1f A G 12: 103,656,010 (GRCm39) V406A probably damaging Het
Sf3b3 T C 8: 111,540,301 (GRCm39) D1040G probably damaging Het
Sgcd A G 11: 46,870,262 (GRCm39) I233T possibly damaging Het
Slc15a3 A G 19: 10,820,410 (GRCm39) Q9R probably benign Het
Slc25a46 A G 18: 31,716,336 (GRCm39) F389L probably damaging Het
Slc26a2 G T 18: 61,331,330 (GRCm39) C700* probably null Het
Slc4a7 A G 14: 14,771,283 (GRCm38) Y671C possibly damaging Het
Slc5a10 A T 11: 61,610,708 (GRCm39) I22N probably damaging Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Slc6a12 A G 6: 121,332,281 (GRCm39) D205G probably benign Het
Tas2r115 G A 6: 132,714,124 (GRCm39) H276Y probably damaging Het
Tdpoz4 T A 3: 93,704,318 (GRCm39) I205N probably damaging Het
Tfeb C T 17: 48,096,904 (GRCm39) T33I probably benign Het
Tgm3 A G 2: 129,890,240 (GRCm39) T668A probably benign Het
Tnpo3 A G 6: 29,582,259 (GRCm39) V201A probably benign Het
Tpcn1 T A 5: 120,694,596 (GRCm39) M158L probably benign Het
Trim47 A C 11: 115,996,918 (GRCm39) L612R probably damaging Het
Trmt10c A T 16: 55,854,438 (GRCm39) L399* probably null Het
Trpm2 A T 10: 77,753,626 (GRCm39) S1293T probably benign Het
Ttn C T 2: 76,582,941 (GRCm39) V22651I probably damaging Het
Tubgcp5 A G 7: 55,455,871 (GRCm39) I300V probably benign Het
Uty T A Y: 1,136,883 (GRCm39) Q844L probably damaging Het
Vmn2r85 C T 10: 130,254,990 (GRCm39) E565K probably damaging Het
Vmn2r97 T C 17: 19,167,561 (GRCm39) V605A possibly damaging Het
Vwa3a T C 7: 120,375,487 (GRCm39) V399A probably damaging Het
Wnk4 G A 11: 101,159,107 (GRCm39) R508Q probably damaging Het
Zfp217 A G 2: 169,961,130 (GRCm39) V399A probably damaging Het
Zfp616 T A 11: 73,974,830 (GRCm39) N457K possibly damaging Het
Other mutations in Fancm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Fancm APN 12 65,122,510 (GRCm39) missense possibly damaging 0.50
IGL00489:Fancm APN 12 65,152,967 (GRCm39) missense probably benign 0.01
IGL00529:Fancm APN 12 65,177,191 (GRCm39) utr 3 prime probably benign
IGL00898:Fancm APN 12 65,152,774 (GRCm39) missense probably benign 0.01
IGL01805:Fancm APN 12 65,160,635 (GRCm39) critical splice donor site probably null
IGL01986:Fancm APN 12 65,173,429 (GRCm39) nonsense probably null
IGL02026:Fancm APN 12 65,152,508 (GRCm39) missense probably benign 0.03
IGL02069:Fancm APN 12 65,122,685 (GRCm39) missense probably benign 0.05
IGL02103:Fancm APN 12 65,142,558 (GRCm39) missense probably benign 0.38
IGL02133:Fancm APN 12 65,153,249 (GRCm39) missense probably benign 0.04
IGL02400:Fancm APN 12 65,160,589 (GRCm39) missense probably damaging 1.00
IGL02478:Fancm APN 12 65,123,864 (GRCm39) missense probably damaging 1.00
IGL02479:Fancm APN 12 65,153,259 (GRCm39) missense probably damaging 0.98
IGL02563:Fancm APN 12 65,139,236 (GRCm39) missense probably damaging 1.00
IGL02606:Fancm APN 12 65,122,913 (GRCm39) missense possibly damaging 0.90
IGL02731:Fancm APN 12 65,135,079 (GRCm39) missense probably benign 0.00
IGL02809:Fancm APN 12 65,168,441 (GRCm39) missense possibly damaging 0.54
IGL02953:Fancm APN 12 65,168,740 (GRCm39) missense probably benign 0.27
IGL03066:Fancm APN 12 65,171,888 (GRCm39) nonsense probably null
IGL03073:Fancm APN 12 65,148,406 (GRCm39) missense probably damaging 1.00
Fancypants UTSW 12 65,153,235 (GRCm39) missense probably damaging 1.00
Mylord UTSW 12 65,163,197 (GRCm39) nonsense probably null
R0041_fancm_712 UTSW 12 65,153,217 (GRCm39) nonsense probably null
R7172_Fancm_370 UTSW 12 65,152,828 (GRCm39) missense possibly damaging 0.95
BB005:Fancm UTSW 12 65,152,898 (GRCm39) missense unknown
BB015:Fancm UTSW 12 65,152,898 (GRCm39) missense unknown
PIT4131001:Fancm UTSW 12 65,152,196 (GRCm39) missense probably benign 0.03
R0041:Fancm UTSW 12 65,153,217 (GRCm39) nonsense probably null
R0041:Fancm UTSW 12 65,153,217 (GRCm39) nonsense probably null
R0125:Fancm UTSW 12 65,168,730 (GRCm39) missense possibly damaging 0.68
R0201:Fancm UTSW 12 65,148,406 (GRCm39) missense probably damaging 1.00
R0360:Fancm UTSW 12 65,122,724 (GRCm39) missense probably damaging 1.00
R0491:Fancm UTSW 12 65,152,835 (GRCm39) missense probably benign 0.32
R0557:Fancm UTSW 12 65,165,216 (GRCm39) critical splice donor site probably null
R0617:Fancm UTSW 12 65,144,091 (GRCm39) nonsense probably null
R1201:Fancm UTSW 12 65,153,542 (GRCm39) missense possibly damaging 0.66
R1353:Fancm UTSW 12 65,134,944 (GRCm39) missense probably damaging 1.00
R1456:Fancm UTSW 12 65,165,125 (GRCm39) missense possibly damaging 0.48
R1468:Fancm UTSW 12 65,146,067 (GRCm39) missense probably damaging 1.00
R1468:Fancm UTSW 12 65,146,067 (GRCm39) missense probably damaging 1.00
R1521:Fancm UTSW 12 65,168,478 (GRCm39) missense probably benign 0.25
R1530:Fancm UTSW 12 65,139,264 (GRCm39) critical splice donor site probably null
R1559:Fancm UTSW 12 65,140,463 (GRCm39) missense probably benign 0.00
R1632:Fancm UTSW 12 65,177,105 (GRCm39) missense probably damaging 1.00
R1681:Fancm UTSW 12 65,152,430 (GRCm39) missense probably benign 0.03
R1919:Fancm UTSW 12 65,152,294 (GRCm39) missense possibly damaging 0.48
R1969:Fancm UTSW 12 65,148,466 (GRCm39) missense probably benign 0.09
R1971:Fancm UTSW 12 65,148,466 (GRCm39) missense probably benign 0.09
R2117:Fancm UTSW 12 65,123,948 (GRCm39) missense probably damaging 1.00
R2510:Fancm UTSW 12 65,160,544 (GRCm39) splice site probably benign
R2909:Fancm UTSW 12 65,171,630 (GRCm39) missense probably damaging 1.00
R3155:Fancm UTSW 12 65,163,195 (GRCm39) missense probably benign 0.32
R3405:Fancm UTSW 12 65,122,546 (GRCm39) missense probably benign 0.00
R4133:Fancm UTSW 12 65,167,304 (GRCm39) missense probably benign 0.44
R4308:Fancm UTSW 12 65,173,305 (GRCm39) missense probably benign 0.14
R4588:Fancm UTSW 12 65,165,215 (GRCm39) critical splice donor site probably null
R4602:Fancm UTSW 12 65,171,718 (GRCm39) missense probably benign 0.12
R4653:Fancm UTSW 12 65,129,828 (GRCm39) missense probably damaging 0.99
R4702:Fancm UTSW 12 65,168,826 (GRCm39) missense possibly damaging 0.95
R4719:Fancm UTSW 12 65,168,480 (GRCm39) missense possibly damaging 0.64
R4885:Fancm UTSW 12 65,149,417 (GRCm39) nonsense probably null
R4896:Fancm UTSW 12 65,122,605 (GRCm39) missense probably damaging 1.00
R4908:Fancm UTSW 12 65,141,645 (GRCm39) missense probably benign 0.28
R4921:Fancm UTSW 12 65,123,915 (GRCm39) missense probably benign 0.19
R4922:Fancm UTSW 12 65,153,666 (GRCm39) critical splice donor site probably null
R5103:Fancm UTSW 12 65,152,632 (GRCm39) missense probably damaging 0.99
R5577:Fancm UTSW 12 65,177,185 (GRCm39) utr 3 prime probably benign
R5631:Fancm UTSW 12 65,160,617 (GRCm39) missense probably damaging 0.97
R5741:Fancm UTSW 12 65,148,389 (GRCm39) missense probably benign 0.01
R6137:Fancm UTSW 12 65,177,156 (GRCm39) missense probably damaging 1.00
R6167:Fancm UTSW 12 65,141,669 (GRCm39) missense probably benign 0.42
R6242:Fancm UTSW 12 65,163,216 (GRCm39) missense probably benign 0.01
R6242:Fancm UTSW 12 65,163,223 (GRCm39) missense probably benign 0.00
R6281:Fancm UTSW 12 65,135,044 (GRCm39) missense probably damaging 1.00
R6325:Fancm UTSW 12 65,171,826 (GRCm39) missense probably damaging 1.00
R6434:Fancm UTSW 12 65,123,942 (GRCm39) missense probably damaging 1.00
R6493:Fancm UTSW 12 65,144,262 (GRCm39) missense probably benign 0.04
R6542:Fancm UTSW 12 65,144,203 (GRCm39) missense probably damaging 1.00
R6645:Fancm UTSW 12 65,152,874 (GRCm39) missense probably damaging 0.99
R6878:Fancm UTSW 12 65,163,197 (GRCm39) nonsense probably null
R7171:Fancm UTSW 12 65,148,394 (GRCm39) missense probably damaging 0.99
R7172:Fancm UTSW 12 65,152,828 (GRCm39) missense possibly damaging 0.95
R7498:Fancm UTSW 12 65,146,165 (GRCm39) missense probably benign 0.01
R7585:Fancm UTSW 12 65,153,021 (GRCm39) missense possibly damaging 0.62
R7610:Fancm UTSW 12 65,152,454 (GRCm39) missense probably damaging 1.00
R7722:Fancm UTSW 12 65,153,235 (GRCm39) missense probably damaging 1.00
R7740:Fancm UTSW 12 65,173,321 (GRCm39) missense possibly damaging 0.90
R7867:Fancm UTSW 12 65,165,173 (GRCm39) missense probably benign 0.12
R7867:Fancm UTSW 12 65,163,240 (GRCm39) critical splice donor site probably null
R7882:Fancm UTSW 12 65,173,568 (GRCm39) missense probably benign 0.12
R7928:Fancm UTSW 12 65,152,898 (GRCm39) missense unknown
R8230:Fancm UTSW 12 65,149,424 (GRCm39) missense probably benign 0.17
R8470:Fancm UTSW 12 65,171,931 (GRCm39) missense probably damaging 1.00
R8553:Fancm UTSW 12 65,173,469 (GRCm39) missense possibly damaging 0.62
R8695:Fancm UTSW 12 65,171,947 (GRCm39) missense probably damaging 1.00
R8817:Fancm UTSW 12 65,167,331 (GRCm39) missense probably damaging 1.00
R8878:Fancm UTSW 12 65,173,522 (GRCm39) missense probably damaging 1.00
R9027:Fancm UTSW 12 65,122,605 (GRCm39) missense probably damaging 1.00
R9223:Fancm UTSW 12 65,149,358 (GRCm39) missense probably benign 0.12
R9280:Fancm UTSW 12 65,153,612 (GRCm39) missense probably benign 0.16
R9487:Fancm UTSW 12 65,153,388 (GRCm39) nonsense probably null
R9562:Fancm UTSW 12 65,168,494 (GRCm39) missense probably damaging 1.00
R9565:Fancm UTSW 12 65,168,494 (GRCm39) missense probably damaging 1.00
R9575:Fancm UTSW 12 65,152,314 (GRCm39) missense possibly damaging 0.88
R9664:Fancm UTSW 12 65,137,758 (GRCm39) missense probably benign 0.08
Z1176:Fancm UTSW 12 65,141,700 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- AATGGCAATGCTTTGGAAGTTG -3'
(R):5'- TTCCCCAGGGCAAGAATAAC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TTCCCCAGGGCAAGAATAACAAATG -3'
Posted On 2016-04-27