Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02069:Fancm'

185758

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: 0.911) question?

Stock #

IGL02069

Quality Score

Status

Chromosome

Chromosomal Location

65122377-65178832 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 65122685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 69 (A69D)

Ref Sequence

ENSEMBL: ENSMUSP00000054797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021332] [ENSMUST00000058889] [ENSMUST00000220730] [ENSMUST00000221166] [ENSMUST00000222540] [ENSMUST00000221913]

AlphaFold

Q8BGE5

Predicted Effect

probably benign
Transcript: ENSMUST00000021332

SMART Domains

Protein: ENSMUSP00000021332
Gene: ENSMUSG00000020949

Domain	Start	End	E-Value	Type
PDB:2KFV\|A	1	73	2e-45	PDB
low complexity region	91	100	N/A	INTRINSIC
Pfam:FKBP_C	121	221	3.9e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058889
AA Change: A69D

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: A69D

Domain	Start	End	E-Value	Type
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: ENSMUST00000220730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220957

Predicted Effect

probably benign
Transcript: ENSMUST00000220983

Predicted Effect

probably benign
Transcript: ENSMUST00000221166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223519

Predicted Effect

probably benign
Transcript: ENSMUST00000222540
AA Change: A69D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223401

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221710

Predicted Effect

probably benign
Transcript: ENSMUST00000221913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222684

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	A	7: 78,742,500 (GRCm39)	V569M	possibly damaging	Het
Alms1	T	C	6: 85,605,805 (GRCm39)	V2016A	probably benign	Het
Apcdd1	T	A	18: 63,083,054 (GRCm39)	W295R	probably damaging	Het
Arid5b	T	A	10: 67,933,229 (GRCm39)	D648V	probably damaging	Het
C2cd6	A	G	1: 59,091,700 (GRCm39)		probably benign	Het
Cst12	A	T	2: 148,634,368 (GRCm39)	D101V	probably damaging	Het
Cyp46a1	T	A	12: 108,312,394 (GRCm39)	Y135N	probably benign	Het
D630045J12Rik	T	C	6: 38,161,007 (GRCm39)	S1046G	probably damaging	Het
Dhtkd1	A	T	2: 5,935,745 (GRCm39)	Y122*	probably null	Het
Disp2	T	A	2: 118,621,161 (GRCm39)	I631N	possibly damaging	Het
Dna2	A	G	10: 62,794,773 (GRCm39)	I387V	probably benign	Het
Dnah7a	A	T	1: 53,601,053 (GRCm39)		probably benign	Het
Eif2ak3	T	C	6: 70,873,949 (GRCm39)	F954S	probably damaging	Het
Elp1	C	T	4: 56,779,731 (GRCm39)	G560D	probably benign	Het
Fbxo34	T	A	14: 47,767,070 (GRCm39)	D143E	probably damaging	Het
Fchsd1	G	A	18: 38,100,667 (GRCm39)	R144*	probably null	Het
Fip1l1	A	G	5: 74,752,534 (GRCm39)	D402G	probably damaging	Het
Frem1	A	G	4: 82,821,788 (GRCm39)	S2107P	probably damaging	Het
Gm1527	A	G	3: 28,980,763 (GRCm39)	N621S	possibly damaging	Het
Hddc2	G	A	10: 31,192,314 (GRCm39)	D54N	probably damaging	Het
Ighm	T	A	12: 113,384,768 (GRCm39)		probably benign	Het
Il17d	G	T	14: 57,779,972 (GRCm39)	E165*	probably null	Het
Kmt5b	A	T	19: 3,857,335 (GRCm39)	K364M	probably damaging	Het
Ldb1	C	A	19: 46,021,617 (GRCm39)	W390L	possibly damaging	Het
Lgmn	T	C	12: 102,370,558 (GRCm39)	E124G	possibly damaging	Het
Mroh2b	A	G	15: 4,933,806 (GRCm39)		probably benign	Het
Pga5	C	T	19: 10,646,763 (GRCm39)	G323S	possibly damaging	Het
Pkd1l3	A	T	8: 110,362,012 (GRCm39)	N1018I	probably damaging	Het
Polr2b	A	G	5: 77,491,044 (GRCm39)	T962A	probably benign	Het
Ptger1	A	G	8: 84,396,086 (GRCm39)	E381G	probably benign	Het
Sec24a	A	T	11: 51,624,761 (GRCm39)		probably benign	Het
Serpine2	T	A	1: 79,799,129 (GRCm39)	I42F	possibly damaging	Het
Sh3tc1	C	T	5: 35,876,339 (GRCm39)	R122Q	probably benign	Het
Slc15a2	T	C	16: 36,579,613 (GRCm39)	I347V	probably benign	Het
Snx4	T	C	16: 33,084,725 (GRCm39)	Y80H	probably damaging	Het
Spata16	C	A	3: 26,786,944 (GRCm39)	C207*	probably null	Het
Syne2	A	G	12: 75,974,186 (GRCm39)	Q1128R	probably benign	Het
Tamalin	A	G	15: 101,122,346 (GRCm39)	Y55C	probably damaging	Het
Trpm4	T	A	7: 44,968,718 (GRCm39)	N405I	probably damaging	Het
Upp2	A	G	2: 58,661,429 (GRCm39)		probably benign	Het

Other mutations in Fancm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

2014-05-07