Incidental Mutation 'R8878:Fancm'
ID 676714
Institutional Source Beutler Lab
Gene Symbol Fancm
Ensembl Gene ENSMUSG00000055884
Gene Name Fanconi anemia, complementation group M
Synonyms D12Ertd364e, C730036B14Rik
MMRRC Submission 068746-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.921) question?
Stock # R8878 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 65122377-65178832 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65173522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1945 (Y1945H)
Ref Sequence ENSEMBL: ENSMUSP00000054797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058889] [ENSMUST00000222540]
AlphaFold Q8BGE5
Predicted Effect probably damaging
Transcript: ENSMUST00000058889
AA Change: Y1945H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: Y1945H

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: ENSMUST00000221175
Predicted Effect probably benign
Transcript: ENSMUST00000222540
Meta Mutation Damage Score 0.1229 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (73/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 C A 2: 155,398,324 (GRCm39) H348Q probably benign Het
Ago1 T A 4: 126,357,516 (GRCm39) Y53F probably benign Het
Arrdc5 A G 17: 56,601,342 (GRCm39) L261P probably benign Het
Asb2 C A 12: 103,290,138 (GRCm39) W551L possibly damaging Het
Atl2 T C 17: 80,160,232 (GRCm39) I452V probably benign Het
Atxn7l3 T C 11: 102,183,545 (GRCm39) S203G probably benign Het
Bche A G 3: 73,608,506 (GRCm39) F307L probably benign Het
C6 T C 15: 4,826,454 (GRCm39) V679A probably benign Het
Cd163 A T 6: 124,297,469 (GRCm39) N872Y probably damaging Het
Cdkal1 C A 13: 29,658,607 (GRCm39) V380F probably damaging Het
Ceacam11 A T 7: 17,709,536 (GRCm39) I245L probably benign Het
Ceacam16 G T 7: 19,592,656 (GRCm39) T84K possibly damaging Het
Ceacam2 T A 7: 25,227,351 (GRCm39) Q172L probably benign Het
Chga T G 12: 102,527,720 (GRCm39) S125A possibly damaging Het
Col9a1 T C 1: 24,236,048 (GRCm39) probably null Het
Crybg3 C A 16: 59,380,547 (GRCm39) A236S probably benign Het
Csmd1 A G 8: 15,960,528 (GRCm39) Y3296H probably damaging Het
Cyp2j8 C A 4: 96,358,807 (GRCm39) V371L possibly damaging Het
Des C A 1: 75,337,137 (GRCm39) L26M unknown Het
Edc3 A G 9: 57,623,484 (GRCm39) S140G possibly damaging Het
Fam161a C T 11: 22,970,092 (GRCm39) T90I probably benign Het
Fbn2 C T 18: 58,257,318 (GRCm39) V350I probably benign Het
Git2 A G 5: 114,899,649 (GRCm39) C235R possibly damaging Het
Gk2 T C 5: 97,604,341 (GRCm39) K166E probably benign Het
Gm12258 G A 11: 58,750,112 (GRCm39) R429H unknown Het
Gm7247 T G 14: 51,666,210 (GRCm39) probably benign Het
Gmppa A G 1: 75,414,932 (GRCm39) Y59C probably damaging Het
Has1 G T 17: 18,070,321 (GRCm39) A200E possibly damaging Het
Hbs1l T C 10: 21,234,711 (GRCm39) I588T possibly damaging Het
Helz2 A G 2: 180,874,560 (GRCm39) V1978A possibly damaging Het
Hoxb9 T C 11: 96,165,557 (GRCm39) Y209H probably damaging Het
Hps5 T C 7: 46,421,345 (GRCm39) D706G probably benign Het
Hydin T C 8: 111,035,720 (GRCm39) V137A probably benign Het
Ifngr2 T C 16: 91,359,847 (GRCm39) I318T probably benign Het
Iqgap3 C T 3: 88,020,532 (GRCm39) T1290I probably damaging Het
Jrk A T 15: 74,578,988 (GRCm39) V99E probably benign Het
Kalrn G A 16: 34,025,696 (GRCm39) T931M probably damaging Het
Kalrn G A 16: 34,018,830 (GRCm39) P1311S probably benign Het
Kirrel3 A G 9: 34,850,561 (GRCm39) probably benign Het
Klk1b9 T C 7: 43,443,782 (GRCm39) F99L possibly damaging Het
Lamb3 T C 1: 193,013,124 (GRCm39) C450R probably damaging Het
Lyst T A 13: 13,815,661 (GRCm39) S1182T probably benign Het
Map1a T C 2: 121,138,125 (GRCm39) V2933A probably damaging Het
Map2k5 A T 9: 63,250,667 (GRCm39) probably null Het
Mcm6 A G 1: 128,283,248 (GRCm39) probably null Het
Mmp17 G A 5: 129,683,378 (GRCm39) V505M probably damaging Het
Mpped2 A G 2: 106,575,065 (GRCm39) D50G probably damaging Het
Mtf1 T A 4: 124,715,023 (GRCm39) L216* probably null Het
Niban2 A T 2: 32,811,105 (GRCm39) M372L probably benign Het
Obscn T C 11: 58,890,638 (GRCm39) E7298G unknown Het
Or52ab7 A T 7: 102,978,212 (GRCm39) H173L possibly damaging Het
Or56a3 T C 7: 104,735,763 (GRCm39) L280P probably damaging Het
Or6c205 T C 10: 129,086,883 (GRCm39) L160P probably benign Het
Or7d9 A G 9: 20,197,358 (GRCm39) D129G probably damaging Het
Otulinl T A 15: 27,664,884 (GRCm39) H24L probably benign Het
Pax2 G A 19: 44,777,215 (GRCm39) probably null Het
Pcnt T A 10: 76,244,675 (GRCm39) E1135V probably damaging Het
Pgap3 A T 11: 98,281,924 (GRCm39) V129D probably benign Het
Polq A G 16: 36,860,869 (GRCm39) N497S probably benign Het
Ppfia4 T C 1: 134,227,122 (GRCm39) T1138A Het
Prickle4 A G 17: 48,001,587 (GRCm39) L32P Het
Prl2c2 C T 13: 13,171,896 (GRCm39) G158R probably damaging Het
Psd3 A G 8: 68,210,750 (GRCm39) I752T probably benign Het
Sag A T 1: 87,756,158 (GRCm39) Y255F probably benign Het
Scn7a A T 2: 66,506,199 (GRCm39) D1563E probably damaging Het
Secisbp2 A G 13: 51,837,404 (GRCm39) N855S probably benign Het
Setd2 T C 9: 110,421,467 (GRCm39) V2011A probably benign Het
Slc30a6 T C 17: 74,730,112 (GRCm39) V334A probably damaging Het
Spen A G 4: 141,204,520 (GRCm39) V1369A unknown Het
Stac2 T C 11: 97,932,373 (GRCm39) T207A probably benign Het
Syne2 T C 12: 75,952,067 (GRCm39) V445A probably benign Het
Tas2r131 C A 6: 132,934,467 (GRCm39) W114L probably damaging Het
Tgfbrap1 G A 1: 43,088,959 (GRCm39) R815* probably null Het
Trpv2 A T 11: 62,481,112 (GRCm39) I404L probably benign Het
Zfp236 G A 18: 82,617,122 (GRCm39) T1791M probably 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
R4948:Fancm UTSW 12 65,137,748 (GRCm39) missense probably damaging 1.00
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
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'- GAAGTGCTATGACAGTTTGCTGAC -3'
(R):5'- GCTGGACCAGTACAAGGATG -3'

Sequencing Primer
(F):5'- CAGTTTGCTGACTGCCTTAGTTG -3'
(R):5'- GCTGAGCCTGATCACTTAGAC -3'
Posted On 2021-07-15