Incidental Mutation 'IGL02133:Fancm'
ID 281067
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fancm
Ensembl Gene ENSMUSG00000055884
Gene Name Fanconi anemia, complementation group M
Synonyms D12Ertd364e, C730036B14Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.921) question?
Stock # IGL02133
Quality Score
Status
Chromosome 12
Chromosomal Location 65122377-65178832 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65153249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 1235 (G1235D)
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: G1235D

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: G1235D

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: ENSMUST00000222521
Predicted Effect probably benign
Transcript: ENSMUST00000222540
Coding Region Coverage
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530068E07Rik G T 11: 52,294,337 (GRCm39) A193S probably damaging Het
Adam4 A G 12: 81,466,803 (GRCm39) V606A probably benign Het
Atp2c2 A G 8: 120,481,074 (GRCm39) I821V probably benign Het
Bmi1 A T 2: 18,688,488 (GRCm39) R160W probably damaging Het
Ccdc198 T A 14: 49,470,424 (GRCm39) Q165L probably benign Het
Ccdc88c G A 12: 100,906,349 (GRCm39) R1062C probably damaging Het
Cntnap3 A T 13: 64,899,487 (GRCm39) probably benign Het
Col20a1 C T 2: 180,648,937 (GRCm39) T940I probably damaging Het
Csmd3 A C 15: 47,721,338 (GRCm39) M1535R possibly damaging Het
Dhx38 C A 8: 110,284,873 (GRCm39) E487* probably null Het
Fam186b A G 15: 99,171,584 (GRCm39) S888P probably damaging Het
Grin3a C T 4: 49,792,946 (GRCm39) W262* probably null Het
Gtdc1 A T 2: 44,465,455 (GRCm39) M305K probably damaging Het
H2-M9 T C 17: 36,952,629 (GRCm39) E139G possibly damaging Het
Haus1 A T 18: 77,854,611 (GRCm39) L53Q probably damaging Het
Hgfac A G 5: 35,203,931 (GRCm39) Y483C probably damaging Het
Hipk2 C T 6: 38,796,069 (GRCm39) V67I probably benign Het
Kbtbd8 T C 6: 95,098,713 (GRCm39) probably benign Het
Kndc1 A G 7: 139,500,683 (GRCm39) T683A probably benign Het
Ldhb A T 6: 142,438,226 (GRCm39) M277K probably benign Het
Mgam T C 6: 40,620,010 (GRCm39) L33P probably damaging Het
Ndst1 A G 18: 60,832,618 (GRCm39) F571L probably benign Het
Neb G T 2: 52,102,816 (GRCm39) probably null Het
Nrxn1 A G 17: 90,950,671 (GRCm39) S503P probably damaging Het
Paqr3 A G 5: 97,243,790 (GRCm39) V308A probably benign Het
Scnn1g T C 7: 121,342,922 (GRCm39) F292L probably damaging Het
Stk3 A G 15: 35,099,662 (GRCm39) F88S probably damaging Het
Tcaf2 T A 6: 42,604,330 (GRCm39) E683V probably benign Het
Tprkb T C 6: 85,904,893 (GRCm39) V123A probably benign Het
Ush2a T C 1: 188,175,540 (GRCm39) Y1213H probably damaging Het
Vwa5b1 A G 4: 138,313,868 (GRCm39) probably null Het
Wls A G 3: 159,603,007 (GRCm39) Y140C probably damaging Het
Zan A G 5: 137,409,760 (GRCm39) S28P 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
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
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
Posted On 2015-04-16