Incidental Mutation 'R9664:Fancm'
ID 735648
Institutional Source Beutler Lab
Gene Symbol Fancm
Ensembl Gene ENSMUSG00000055884
Gene Name Fanconi anemia, complementation group M
Synonyms D12Ertd364e, C730036B14Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R9664 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 65122377-65178832 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65137758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 316 (N316K)
Ref Sequence ENSEMBL: ENSMUSP00000054797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058889] [ENSMUST00000222540]
AlphaFold Q8BGE5
Predicted Effect probably benign
Transcript: ENSMUST00000058889
AA Change: N316K

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: N316K

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 benign
Transcript: ENSMUST00000222540
AA Change: N316K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.2%
Validation Efficiency
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 G A 15: 76,478,383 (GRCm39) D277N probably damaging Het
Adgrv1 A T 13: 81,670,288 (GRCm39) S2353T probably benign Het
Adgrv1 A T 13: 81,743,371 (GRCm39) N43K probably damaging Het
Adnp2 A G 18: 80,185,937 (GRCm39) I12T probably damaging Het
Ahnak2 A G 12: 112,741,363 (GRCm39) L903P probably damaging Het
Ankhd1 T G 18: 36,780,878 (GRCm39) S1977A probably benign Het
Ap1m2 T C 9: 21,216,983 (GRCm39) M118V probably benign Het
Ap3d1 T C 10: 80,548,639 (GRCm39) K846R possibly damaging Het
Aqr C A 2: 113,971,396 (GRCm39) E480* probably null Het
Arl6 G T 16: 59,434,199 (GRCm39) Q182K probably benign Het
Arpc2 A G 1: 74,294,034 (GRCm39) K106E probably benign Het
Atp8a1 A C 5: 67,889,524 (GRCm39) F599V Het
B3galt5 A T 16: 96,117,203 (GRCm39) I279F probably damaging Het
Calcoco2 G T 11: 95,991,104 (GRCm39) A211D unknown Het
Ccdc33 T C 9: 57,993,855 (GRCm39) E342G possibly damaging Het
Ccdc88a C A 11: 29,405,484 (GRCm39) Q386K probably benign Het
Cdh20 A G 1: 104,862,065 (GRCm39) K82E probably benign Het
Clca3a2 A T 3: 144,503,575 (GRCm39) Y792N probably damaging Het
Col6a6 T C 9: 105,658,254 (GRCm39) I653V probably benign Het
Col7a1 C T 9: 108,812,649 (GRCm39) R2826W unknown Het
D6Ertd527e A G 6: 87,088,908 (GRCm39) N357S unknown Het
Dmgdh T A 13: 93,857,123 (GRCm39) N742K probably benign Het
Dnai3 T C 3: 145,748,594 (GRCm39) N840S probably benign Het
Dnajc6 A G 4: 101,475,821 (GRCm39) N565D probably benign Het
Doc2g A G 19: 4,054,390 (GRCm39) Y155C probably damaging Het
Dot1l G A 10: 80,624,361 (GRCm39) G943D probably damaging Het
Dst T C 1: 34,220,736 (GRCm39) V2180A probably benign Het
Eftud2 A C 11: 102,759,422 (GRCm39) Y160* probably null Het
Ehd1 A T 19: 6,331,262 (GRCm39) Q140L probably benign Het
Etv3 T C 3: 87,443,172 (GRCm39) V252A probably benign Het
F11 A T 8: 45,694,566 (GRCm39) C598* probably null Het
Flnc T C 6: 29,457,214 (GRCm39) V2372A probably damaging Het
Fry A G 5: 150,282,488 (GRCm39) R338G probably damaging Het
Gfra3 T C 18: 34,837,591 (GRCm39) T136A probably benign Het
Golga7b T C 19: 42,255,462 (GRCm39) V113A possibly damaging Het
Gpn3 G T 5: 122,520,306 (GRCm39) V102L Het
Herc2 A G 7: 55,820,338 (GRCm39) N2859S possibly damaging Het
Hpd A T 5: 123,318,948 (GRCm39) probably null Het
Hspg2 C T 4: 137,266,887 (GRCm39) T1964I probably benign Het
Hydin A T 8: 111,220,965 (GRCm39) T1454S probably benign Het
Irgm2 A T 11: 58,110,872 (GRCm39) T188S possibly damaging Het
Jak3 A G 8: 72,131,366 (GRCm39) D77G probably damaging Het
Kcnj4 G T 15: 79,369,220 (GRCm39) F253L possibly damaging Het
Kidins220 T A 12: 25,106,895 (GRCm39) D1358E probably benign Het
Klf1 C A 8: 85,630,061 (GRCm39) C295* probably null Het
Kmt2a C T 9: 44,760,102 (GRCm39) W582* probably null Het
Lrig2 A G 3: 104,371,556 (GRCm39) C716R probably damaging Het
Lrp1b C T 2: 40,765,004 (GRCm39) D2941N Het
Lrpprc A T 17: 85,020,262 (GRCm39) V1141E probably damaging Het
Mrgprx1 C T 7: 47,671,273 (GRCm39) G158D probably benign Het
Muc5b C A 7: 141,409,279 (GRCm39) A1121D unknown Het
Nf1 G T 11: 79,334,733 (GRCm39) V852L probably damaging Het
Nlrp5 A G 7: 23,118,286 (GRCm39) E670G probably benign Het
Notch4 A G 17: 34,784,601 (GRCm39) T101A probably benign Het
Or10a49 T C 7: 108,467,563 (GRCm39) Y266C probably damaging Het
Or2t35 T A 14: 14,407,963 (GRCm38) I245K probably benign Het
Or5b123 G A 19: 13,597,365 (GRCm39) V237I probably benign Het
P2rx2 T C 5: 110,488,172 (GRCm39) T461A probably benign Het
Pank1 G A 19: 34,799,194 (GRCm39) T419I probably damaging Het
Patz1 T C 11: 3,244,562 (GRCm39) V481A unknown Het
Pdlim5 A G 3: 142,018,058 (GRCm39) L179P probably benign Het
Pik3ap1 A T 19: 41,296,967 (GRCm39) V461D probably damaging Het
Polq T C 16: 36,848,176 (GRCm39) V261A probably damaging Het
Ppm1a G A 12: 72,837,451 (GRCm39) V333M possibly damaging Het
R3hcc1l T C 19: 42,552,671 (GRCm39) L556P probably benign Het
Rabggta G A 14: 55,956,375 (GRCm39) Q365* probably null Het
Ranbp9 T C 13: 43,578,519 (GRCm39) T185A probably benign Het
Rd3l T G 12: 111,945,913 (GRCm39) N189H probably damaging Het
Rnf17 A G 14: 56,722,636 (GRCm39) T1066A probably damaging Het
Rnf213 G A 11: 119,332,794 (GRCm39) A2669T Het
Ros1 T A 10: 51,996,931 (GRCm39) H1268L probably benign Het
Rps6ka4 G T 19: 6,809,354 (GRCm39) S433R possibly damaging Het
Ryr1 A G 7: 28,759,092 (GRCm39) L3362P probably damaging Het
Setd1b A T 5: 123,298,046 (GRCm39) T1361S unknown Het
Setd2 T C 9: 110,377,570 (GRCm39) S462P probably damaging Het
Sgsm3 A T 15: 80,890,935 (GRCm39) Q132L probably benign Het
Slx1b C A 7: 126,291,698 (GRCm39) R122L probably damaging Het
Sorbs2 A T 8: 46,276,788 (GRCm39) T1167S probably benign Het
Spdya A C 17: 71,869,513 (GRCm39) T103P probably damaging Het
Stfa2 A G 16: 36,228,638 (GRCm39) S20P probably benign Het
Sulf1 A G 1: 12,891,026 (GRCm39) T400A probably benign Het
Tardbp A T 4: 148,709,751 (GRCm39) D23E probably damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tgm1 C T 14: 55,948,441 (GRCm39) D237N probably benign Het
Tgs1 T A 4: 3,585,964 (GRCm39) N280K probably benign Het
Tmem198 A T 1: 75,459,272 (GRCm39) I76F possibly damaging Het
Trpv2 A T 11: 62,475,385 (GRCm39) Y266F probably damaging Het
Ttn C T 2: 76,569,845 (GRCm39) G27016E probably damaging Het
Ttn T C 2: 76,781,824 (GRCm39) E1074G unknown Het
Unc5b A T 10: 60,613,322 (GRCm39) W305R probably damaging Het
Usp38 A G 8: 81,741,164 (GRCm39) probably benign Het
Vmn1r79 A G 7: 11,910,582 (GRCm39) T155A probably benign Het
Vwce G A 19: 10,615,481 (GRCm39) V121I probably benign Het
Wdr91 A T 6: 34,865,961 (GRCm39) D530E probably benign Het
Wnt4 A G 4: 137,023,929 (GRCm39) T299A probably benign Het
Yeats2 T A 16: 20,047,491 (GRCm39) Y1284* probably null Het
Zfp113 A T 5: 138,148,888 (GRCm39) Y85* probably null Het
Zfp184 A G 13: 22,144,096 (GRCm39) T601A probably benign Het
Zfp655 A G 5: 145,180,442 (GRCm39) E100G 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
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
Z1176:Fancm UTSW 12 65,141,700 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- AATGGCAATGCTTTGGAAGTTG -3'
(R):5'- AGCAGTCCTCTTACCTCAGC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TACCTCAGCTTCCCCAGGG -3'
Posted On 2022-11-14