Incidental Mutation 'R1969:Fancm'
ID 219512
Institutional Source Beutler Lab
Gene Symbol Fancm
Ensembl Gene ENSMUSG00000055884
Gene Name Fanconi anemia, complementation group M
Synonyms D12Ertd364e, C730036B14Rik
MMRRC Submission 039982-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R1969 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 65122377-65178832 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65148466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 694 (S694T)
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: S694T

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: S694T

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 noncoding transcript
Transcript: ENSMUST00000222521
Predicted Effect probably benign
Transcript: ENSMUST00000222540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223401
Meta Mutation Damage Score 0.0689 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik T C 19: 21,575,609 (GRCm39) probably benign Het
Apoh G A 11: 108,298,288 (GRCm39) R196Q probably benign Het
Arnt C T 3: 95,355,704 (GRCm39) S16L possibly damaging Het
B4galnt4 T C 7: 140,644,761 (GRCm39) F194L probably benign Het
BC034090 A T 1: 155,100,972 (GRCm39) L431M possibly damaging Het
Bdh2 G T 3: 134,994,040 (GRCm39) A31S probably damaging Het
Brd10 C T 19: 29,694,075 (GRCm39) S1873N possibly damaging Het
Cacna1s T C 1: 136,046,833 (GRCm39) S1821P probably benign Het
Caskin1 A T 17: 24,725,824 (GRCm39) Q1370L possibly damaging Het
Ccdc83 T A 7: 89,893,362 (GRCm39) S132C probably damaging Het
Cdk15 A T 1: 59,370,110 (GRCm39) H384L probably damaging Het
Col24a1 T C 3: 145,020,691 (GRCm39) I354T probably benign Het
Coro7 T C 16: 4,451,620 (GRCm39) I451V probably benign Het
Ctnna2 T C 6: 77,735,483 (GRCm39) E65G probably damaging Het
Ctsll3 A T 13: 60,948,162 (GRCm39) W172R probably benign Het
D630045J12Rik T C 6: 38,145,078 (GRCm39) D1316G probably damaging Het
Ddx19b C T 8: 111,734,890 (GRCm39) A493T probably benign Het
Ddx4 C T 13: 112,736,547 (GRCm39) V608I probably damaging Het
Ddx4 T A 13: 112,757,276 (GRCm39) H348L probably damaging Het
Dnah17 G C 11: 117,995,361 (GRCm39) Q996E probably benign Het
Dnah9 G C 11: 65,739,197 (GRCm39) N4180K probably damaging Het
Dok7 A G 5: 35,234,610 (GRCm39) probably null Het
Dpf3 T A 12: 83,371,809 (GRCm39) probably null Het
Efcab3 A G 11: 104,637,090 (GRCm39) I988M probably damaging Het
Elfn1 G C 5: 139,958,604 (GRCm39) R536P probably damaging Het
Eml6 A G 11: 29,783,075 (GRCm39) V602A probably benign Het
Enpp2 T C 15: 54,746,378 (GRCm39) D296G probably damaging Het
Evi5 A T 5: 107,896,230 (GRCm39) F738I probably benign Het
Eya2 T C 2: 165,558,039 (GRCm39) S212P probably benign Het
Fam83a T C 15: 57,849,498 (GRCm39) L14P probably damaging Het
Fanca A T 8: 124,014,803 (GRCm39) M735K probably benign Het
Fibcd1 G A 2: 31,706,673 (GRCm39) T386I probably damaging Het
Foxd4 A G 19: 24,877,178 (GRCm39) S341P probably benign Het
Foxp4 C T 17: 48,186,796 (GRCm39) R378Q unknown Het
Fryl A T 5: 73,255,609 (GRCm39) S807R probably benign Het
Fscb T C 12: 64,520,008 (GRCm39) E486G unknown Het
Galnt17 A G 5: 131,179,782 (GRCm39) S122P probably benign Het
Ghitm A G 14: 36,853,586 (GRCm39) F85L probably benign Het
Ghrh C A 2: 157,175,386 (GRCm39) V32L probably benign Het
Gli2 C T 1: 118,765,430 (GRCm39) R907H probably benign Het
Gm28042 A G 2: 119,872,096 (GRCm39) *1015W probably null Het
Gpr179 T C 11: 97,228,784 (GRCm39) T1124A probably benign Het
Grid2 C A 6: 63,885,902 (GRCm39) C99* probably null Het
Grin1 A T 2: 25,187,927 (GRCm39) M523K probably benign Het
Gucy2g T C 19: 55,211,328 (GRCm39) Y634C possibly damaging Het
Gucy2g T G 19: 55,221,485 (GRCm39) T339P probably benign Het
Haus6 A T 4: 86,522,483 (GRCm39) L116H probably damaging Het
Hey1 T C 3: 8,731,879 (GRCm39) T18A probably benign Het
Hipk3 T C 2: 104,264,186 (GRCm39) N792D probably damaging Het
Il19 A T 1: 130,866,893 (GRCm39) L29Q probably damaging Het
Il21r A G 7: 125,228,144 (GRCm39) Q205R probably damaging Het
Kcnip2 T C 19: 45,782,122 (GRCm39) D169G probably null Het
Kctd18 T C 1: 58,006,779 (GRCm39) I24V probably benign Het
Lcp1 T C 14: 75,437,946 (GRCm39) S119P probably damaging Het
Lig3 G C 11: 82,686,544 (GRCm39) D642H probably benign Het
Lrba A G 3: 86,515,696 (GRCm39) K2166E probably damaging Het
Lrrn2 T C 1: 132,866,972 (GRCm39) V679A probably benign Het
Lyst G A 13: 13,904,929 (GRCm39) R3202H probably damaging Het
Micall2 A G 5: 139,721,885 (GRCm39) C11R probably damaging Het
Morc2b T G 17: 33,356,065 (GRCm39) Q569P probably benign Het
Mtrf1 A G 14: 79,639,111 (GRCm39) E81G probably damaging Het
Myh2 G T 11: 67,080,004 (GRCm39) S1099I possibly damaging Het
Nap1l1 T A 10: 111,326,914 (GRCm39) D158E probably benign Het
Nckap5l T A 15: 99,320,699 (GRCm39) T1285S probably damaging Het
Nsrp1 A T 11: 76,936,612 (GRCm39) M528K probably damaging Het
Numa1 C T 7: 101,658,529 (GRCm39) A1605V probably damaging Het
Nutm2 T C 13: 50,627,878 (GRCm39) L453P probably damaging Het
Ofd1 T C X: 165,210,210 (GRCm39) Y205C probably benign Het
Or2ag12 T A 7: 106,276,877 (GRCm39) N272I probably damaging Het
Or2n1c A G 17: 38,519,355 (GRCm39) Y73C probably damaging Het
Or4c125 T A 2: 89,170,640 (GRCm39) N2I probably damaging Het
Or52k2 A T 7: 102,253,777 (GRCm39) D72V probably damaging Het
Or7a40 T A 16: 16,491,447 (GRCm39) M133L probably benign Het
Patl1 T C 19: 11,898,782 (GRCm39) L159P probably benign Het
Paxip1 G A 5: 27,949,134 (GRCm39) T1045I probably damaging Het
Phaf1 T A 8: 105,973,132 (GRCm39) D247E possibly damaging Het
Pik3ca A G 3: 32,505,903 (GRCm39) probably null Het
Pkhd1 T A 1: 20,451,747 (GRCm39) I2183F probably damaging Het
Plec C T 15: 76,073,372 (GRCm39) R319H probably damaging Het
Pnkd G A 1: 74,391,008 (GRCm39) G334D probably damaging Het
Prss50 A G 9: 110,691,449 (GRCm39) Y251C probably damaging Het
Rab11b A T 17: 33,979,209 (GRCm39) Y10N probably damaging Het
Rfc1 G A 5: 65,476,867 (GRCm39) R4W probably damaging Het
Rgs19 A T 2: 181,331,276 (GRCm39) F119Y probably damaging Het
Safb A G 17: 56,912,821 (GRCm39) H883R probably benign Het
Serpine1 G A 5: 137,096,601 (GRCm39) Q227* probably null Het
Slc25a13 A G 6: 6,096,668 (GRCm39) probably null Het
Slc6a18 T A 13: 73,812,308 (GRCm39) T502S possibly damaging Het
Sox4 T C 13: 29,136,631 (GRCm39) D125G probably damaging Het
Spata31d1e T C 13: 59,890,599 (GRCm39) D407G probably damaging Het
Stag3 C T 5: 138,298,400 (GRCm39) T731I probably damaging Het
Thada G T 17: 84,617,470 (GRCm39) P1349T probably damaging Het
Tmem245 C A 4: 56,937,964 (GRCm39) V195F probably benign Het
Tnxb A G 17: 34,898,055 (GRCm39) H901R probably benign Het
Trim39 A T 17: 36,579,645 (GRCm39) D103E probably benign Het
Ttn A T 2: 76,562,304 (GRCm39) V28847E probably damaging Het
Tubb1 A T 2: 174,297,484 (GRCm39) D31V possibly damaging Het
Ush1g A G 11: 115,209,280 (GRCm39) S305P probably damaging Het
Vmn1r191 A T 13: 22,362,952 (GRCm39) N267K possibly damaging Het
Vmn1r59 A T 7: 5,457,038 (GRCm39) Y241N probably damaging Het
Vmn2r49 T C 7: 9,720,235 (GRCm39) N419D probably damaging Het
Vps35 T C 8: 86,005,623 (GRCm39) D326G possibly damaging Het
Xdh A G 17: 74,199,746 (GRCm39) S1187P possibly damaging Het
Xpc A C 6: 91,478,007 (GRCm39) probably null Het
Zfp273 T C 13: 67,973,282 (GRCm39) Y104H 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
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
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'- CAGATAGGGTTTAGGAAGCACTATG -3'
(R):5'- CACACTGTGCCATTCTGCAG -3'

Sequencing Primer
(F):5'- GTTTGTCTTGCAGGTTACTTTAAAC -3'
(R):5'- GATGCCCATGTAATGTTAGGAAATC -3'
Posted On 2014-08-25