Incidental Mutation 'R7171:Fancm'
ID 558295
Institutional Source Beutler Lab
Gene Symbol Fancm
Ensembl Gene ENSMUSG00000055884
Gene Name Fanconi anemia, complementation group M
Synonyms D12Ertd364e, C730036B14Rik
MMRRC Submission 045230-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R7171 (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 65148394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 670 (W670R)
Ref Sequence ENSEMBL: ENSMUSP00000054797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058889] [ENSMUST00000221838] [ENSMUST00000222540]
AlphaFold Q8BGE5
Predicted Effect probably damaging
Transcript: ENSMUST00000058889
AA Change: W670R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: W670R

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 probably benign
Transcript: ENSMUST00000221937
Predicted Effect probably benign
Transcript: ENSMUST00000222540
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (81/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik T C 2: 154,454,897 (GRCm39) N154S unknown Het
Ank3 C T 10: 69,828,311 (GRCm39) H2327Y Het
Ano6 A G 15: 95,818,172 (GRCm39) Y305C probably damaging Het
Apc2 A G 10: 80,151,170 (GRCm39) T2075A possibly damaging Het
Arl6 A G 16: 59,443,455 (GRCm39) V93A possibly damaging Het
Bcas3 T C 11: 85,474,763 (GRCm39) S790P probably damaging Het
Bcl9l C A 9: 44,416,448 (GRCm39) H211N probably benign Het
Bptf G T 11: 107,022,233 (GRCm39) D172E unknown Het
Card9 T G 2: 26,249,496 (GRCm39) I22L possibly damaging Het
Catsperg1 C A 7: 28,884,637 (GRCm39) G933V probably damaging Het
Catsperg2 T A 7: 29,404,750 (GRCm39) H771L possibly damaging Het
Ccdc66 T C 14: 27,215,229 (GRCm39) N281S possibly damaging Het
Cfap54 A T 10: 92,612,072 (GRCm39) L3162H probably damaging Het
Clca4a A G 3: 144,663,934 (GRCm39) L503P probably benign Het
Cpn1 T C 19: 43,962,470 (GRCm39) N160D probably damaging Het
Ctsh T A 9: 89,949,154 (GRCm39) I206K probably benign Het
Cyb561d1 G A 3: 108,106,679 (GRCm39) T180M probably damaging Het
Dapk1 A T 13: 60,909,599 (GRCm39) D1404V probably damaging Het
Dip2c G T 13: 9,556,684 (GRCm39) R76L probably benign Het
Dnah7c T C 1: 46,719,898 (GRCm39) I2783T probably damaging Het
E130308A19Rik T C 4: 59,690,333 (GRCm39) Y56H probably damaging Het
Efemp2 G T 19: 5,530,285 (GRCm39) A310S probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Faap24 G A 7: 35,092,279 (GRCm39) Q213* probably null Het
Fam181b G A 7: 92,729,943 (GRCm39) G239S possibly damaging Het
Fcgbpl1 T A 7: 27,853,944 (GRCm39) L1636* probably null Het
Fmnl1 T C 11: 103,081,224 (GRCm39) Y357H probably damaging Het
Fryl A T 5: 73,279,653 (GRCm39) V215E probably damaging Het
Fscn2 C A 11: 120,253,335 (GRCm39) N267K probably damaging Het
Fsip2 T A 2: 82,816,571 (GRCm39) Y4101* probably null Het
Gcn1 G A 5: 115,728,352 (GRCm39) V738I probably benign Het
Gdf9 C T 11: 53,328,366 (GRCm39) R441C probably damaging Het
Gipc3 C T 10: 81,177,455 (GRCm39) G79E probably damaging Het
Gzmf T A 14: 56,443,391 (GRCm39) I196L probably benign Het
Hectd1 A T 12: 51,806,080 (GRCm39) V1852E probably damaging Het
Hip1r A T 5: 124,134,007 (GRCm39) Q256L probably benign Het
Hmgxb4 T C 8: 75,746,890 (GRCm39) S405P probably damaging Het
Il9r T A 11: 32,142,671 (GRCm39) H294L probably benign Het
Kif12 G A 4: 63,086,931 (GRCm39) T331I probably damaging Het
Krtap8-1 A T 16: 89,284,794 (GRCm39) M1K probably null Het
Lamc2 A T 1: 153,015,495 (GRCm39) C613S probably damaging Het
Lgr4 T A 2: 109,831,314 (GRCm39) N314K probably benign Het
Lpcat2 T C 8: 93,635,894 (GRCm39) I432T probably benign Het
Mfhas1 T C 8: 36,056,146 (GRCm39) V207A probably benign Het
Msh3 T G 13: 92,485,806 (GRCm39) T173P probably benign Het
Mup15 T A 4: 61,356,505 (GRCm39) M87L probably benign Het
N4bp2 T C 5: 65,965,365 (GRCm39) V1138A probably benign Het
Noc2l T C 4: 156,326,179 (GRCm39) V422A probably benign Het
Notch3 C T 17: 32,377,936 (GRCm39) G74D probably damaging Het
Ocstamp T A 2: 165,240,081 (GRCm39) K35I probably benign Het
Or12k7 T C 2: 36,958,400 (GRCm39) F28L possibly damaging Het
Or52w1 A G 7: 105,017,968 (GRCm39) H145R probably benign Het
Or5p58 A G 7: 107,694,342 (GRCm39) V145A probably benign Het
Or9a2 T G 6: 41,748,961 (GRCm39) T91P probably benign Het
Plekhh2 T A 17: 84,829,216 (GRCm39) V29D probably damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Rad54l2 C T 9: 106,590,677 (GRCm39) R483H probably damaging Het
Rapgef6 T A 11: 54,567,189 (GRCm39) D1128E possibly damaging Het
Rhbdl2 T A 4: 123,708,049 (GRCm39) I86N possibly damaging Het
Rims1 C A 1: 22,498,740 (GRCm39) R68L Het
Rnf157 A G 11: 116,253,199 (GRCm39) F70L possibly damaging Het
Rtp3 C T 9: 110,815,009 (GRCm39) C452Y unknown Het
S100a14 A T 3: 90,435,069 (GRCm39) K27* probably null Het
Scai C T 2: 38,996,948 (GRCm39) G282D possibly damaging Het
Sclt1 A T 3: 41,672,195 (GRCm39) I132N probably benign Het
Serpinf1 T A 11: 75,308,811 (GRCm39) Q2L possibly damaging Het
Skor2 T A 18: 76,948,681 (GRCm39) V801E probably benign Het
Slc16a10 C G 10: 39,913,255 (GRCm39) E484D probably benign Het
Slc1a5 T A 7: 16,531,463 (GRCm39) D489E probably damaging Het
Slx4 C T 16: 3,808,650 (GRCm39) R430H probably benign Het
Teddm1b A T 1: 153,750,679 (GRCm39) I163F probably damaging Het
Tmem171 A T 13: 98,828,744 (GRCm39) C135* probably null Het
Tmem82 C T 4: 141,342,284 (GRCm39) R306H possibly damaging Het
Tmem94 T A 11: 115,681,781 (GRCm39) probably null Het
Trpm2 A C 10: 77,759,848 (GRCm39) L1096R probably damaging Het
Trrap T A 5: 144,730,859 (GRCm39) L780Q probably damaging Het
Txlnb A G 10: 17,718,732 (GRCm39) D521G probably benign Het
Usp7 T C 16: 8,534,390 (GRCm39) D59G probably benign Het
Vcan G A 13: 89,873,710 (GRCm39) T48I probably damaging Het
Vmn1r45 A G 6: 89,910,316 (GRCm39) L218P probably damaging Het
Wdr25 A T 12: 108,990,922 (GRCm39) T370S 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
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'- GTTCCAGTTTCCAGAAATGGG -3'
(R):5'- CTCTGGTGATTCCCTTTTAAACGAC -3'

Sequencing Primer
(F):5'- CCAGTTTCCAGAAATGGGATCTTG -3'
(R):5'- GTGATTCCCTTTTAAACGACCATTAC -3'
Posted On 2019-06-26