Incidental Mutation 'R6242:Fancm'
ID 505317
Institutional Source Beutler Lab
Gene Symbol Fancm
Ensembl Gene ENSMUSG00000055884
Gene Name Fanconi anemia, complementation group M
Synonyms D12Ertd364e, C730036B14Rik
MMRRC Submission 044434-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.921) question?
Stock # R6242 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 65122377-65178832 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65163216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 1460 (Q1460L)
Ref Sequence ENSEMBL: ENSMUSP00000054797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058889] [ENSMUST00000221838] [ENSMUST00000222540]
AlphaFold Q8BGE5
Predicted Effect probably benign
Transcript: ENSMUST00000058889
AA Change: Q1460L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: Q1460L

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: ENSMUST00000221838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222086
Predicted Effect probably benign
Transcript: ENSMUST00000222540
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 99% (75/76)
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
Adcy6 G T 15: 98,501,896 (GRCm39) C239* probably null Het
Akr1c6 A G 13: 4,486,361 (GRCm39) Q56R probably benign Het
Apaf1 T A 10: 90,898,025 (GRCm39) D244V probably damaging Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Arhgef11 C A 3: 87,635,385 (GRCm39) A898E probably benign Het
Asxl3 A T 18: 22,655,433 (GRCm39) N1148Y probably damaging Het
Atf6 T A 1: 170,621,545 (GRCm39) Q492L possibly damaging Het
Atrnl1 G T 19: 57,630,910 (GRCm39) V226F probably benign Het
Cfap68 C T 9: 50,675,215 (GRCm39) E148K probably benign Het
Cntnap1 A T 11: 101,073,364 (GRCm39) Y615F probably damaging Het
Crybg3 T C 16: 59,376,053 (GRCm39) T1734A probably benign Het
Ctdp1 A C 18: 80,502,427 (GRCm39) V161G probably damaging Het
Cyp4a30b T A 4: 115,311,587 (GRCm39) V85E possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Epha6 A T 16: 59,503,025 (GRCm39) W961R probably damaging Het
Fam114a1 A G 5: 65,188,695 (GRCm39) E475G probably damaging Het
Fam186a A G 15: 99,837,788 (GRCm39) Y2819H unknown Het
Fgf14 T C 14: 124,913,940 (GRCm39) K64E probably benign Het
Fndc5 T C 4: 129,033,688 (GRCm39) V152A probably benign Het
Garem1 C G 18: 21,262,229 (GRCm39) V862L possibly damaging Het
Grin3b G A 10: 79,812,013 (GRCm39) G814R probably damaging Het
Hacd4 A G 4: 88,332,524 (GRCm39) S226P probably benign Het
Htt A G 5: 35,003,356 (GRCm39) Y1277C probably damaging Het
Igkv1-131 T A 6: 67,743,062 (GRCm39) D107V probably damaging Het
Iqcc T C 4: 129,510,639 (GRCm39) D292G probably damaging Het
Krtap13 C T 16: 88,548,384 (GRCm39) V35I probably damaging Het
Liat1 T C 11: 75,890,981 (GRCm39) S32P probably damaging Het
Lrrc59 G T 11: 94,525,809 (GRCm39) L132F possibly damaging Het
Mcub T C 3: 129,709,444 (GRCm39) S290G probably benign Het
Mettl4 A G 17: 95,042,802 (GRCm39) W345R probably damaging Het
Msgn1 G A 12: 11,258,526 (GRCm39) R142W probably damaging Het
Myo5c A G 9: 75,180,893 (GRCm39) I761V probably benign Het
Neb T A 2: 52,066,824 (GRCm39) K5879M probably damaging Het
Nkd2 C T 13: 73,970,905 (GRCm39) V226M probably damaging Het
Nt5el T A 13: 105,246,048 (GRCm39) V203E probably benign Het
Or51a24 T G 7: 103,733,771 (GRCm39) H172P possibly damaging Het
Or5b106 T A 19: 13,123,450 (GRCm39) H191L probably benign Het
Parp4 T A 14: 56,832,856 (GRCm39) L393* probably null Het
Pcdhgb6 G A 18: 37,876,608 (GRCm39) V439I probably benign Het
Pde1a T A 2: 79,959,136 (GRCm39) T15S probably benign Het
Pgr T A 9: 8,900,980 (GRCm39) I171N probably benign Het
Podxl T A 6: 31,503,180 (GRCm39) D296V probably benign Het
Polr3e A T 7: 120,539,690 (GRCm39) E479V possibly damaging Het
Prdm10 A T 9: 31,252,548 (GRCm39) H427L possibly damaging Het
Prl5a1 A T 13: 28,326,538 (GRCm39) K5* probably null Het
Prph A G 15: 98,955,004 (GRCm39) S325G probably damaging Het
Rabl2 C A 15: 89,468,555 (GRCm39) W49L probably benign Het
Rbbp8nl T A 2: 179,922,767 (GRCm39) I209F probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Scn7a T C 2: 66,531,110 (GRCm39) D589G probably benign Het
Sdr42e1 A T 8: 118,389,936 (GRCm39) L235Q possibly damaging Het
Serpina3a T C 12: 104,082,260 (GRCm39) M11T probably benign Het
Slc6a4 A T 11: 76,909,184 (GRCm39) K399* probably null Het
Slco4c1 T A 1: 96,767,008 (GRCm39) T337S probably damaging Het
Spc25 A T 2: 69,027,555 (GRCm39) F112L probably damaging Het
Swt1 A G 1: 151,283,365 (GRCm39) S331P probably benign Het
Tab1 A T 15: 80,039,971 (GRCm39) K264* probably null Het
Tagln3 T A 16: 45,544,701 (GRCm39) probably benign Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tbck A G 3: 132,400,189 (GRCm39) D80G probably benign Het
Tcim A T 8: 24,928,911 (GRCm39) M1K probably null Het
Thap2 A G 10: 115,208,831 (GRCm39) S37P unknown Het
Tjp2 A T 19: 24,076,967 (GRCm39) probably null Het
Tln1 G A 4: 43,533,145 (GRCm39) S2390L probably damaging Het
Trpm5 T G 7: 142,626,919 (GRCm39) I1101L probably benign Het
Ttc3 T G 16: 94,243,554 (GRCm39) M831R probably benign Het
Tulp3 A G 6: 128,300,050 (GRCm39) C459R probably damaging Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Unc13b A T 4: 43,165,800 (GRCm39) T195S possibly damaging Het
Urgcp A G 11: 5,666,691 (GRCm39) L549P probably benign Het
Usp10 G T 8: 120,668,577 (GRCm39) A293S probably benign Het
Vmn2r23 A G 6: 123,681,359 (GRCm39) E89G possibly damaging Het
Vmn2r75 A C 7: 85,814,592 (GRCm39) D300E probably damaging Het
Wif1 T C 10: 120,870,366 (GRCm39) I40T possibly damaging Het
Zmynd8 G A 2: 165,740,867 (GRCm39) R6C 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
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 65,163,223 (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'- GTCTAGCTGGGGAGAACAATTG -3'
(R):5'- TGTAAAAGTAGTGGGAAAGTGCTTC -3'

Sequencing Primer
(F):5'- CTGGGGAGAACAATTGAGAATGTTG -3'
(R):5'- CTAGAGAGATGGCTCAGCACTC -3'
Posted On 2018-02-28