Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02563:Fancm'

298758

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 #

IGL02563

Quality Score

Status

Chromosome

Chromosomal Location

65122377-65178832 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65139236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 374 (L374H)

Ref Sequence

ENSEMBL: ENSMUSP00000152854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058889] [ENSMUST00000222540]

AlphaFold

Q8BGE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000058889
AA Change: L374H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: L374H

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: ENSMUST00000221937

Predicted Effect

probably damaging
Transcript: ENSMUST00000222540
AA Change: L374H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223401

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	A	T	2: 35,270,410 (GRCm39)	V97E	probably damaging	Het
Abhd16a	C	T	17: 35,320,221 (GRCm39)	T362M	probably damaging	Het
Adam23	T	G	1: 63,607,136 (GRCm39)		probably benign	Het
Apeh	C	A	9: 107,970,908 (GRCm39)	R87L	possibly damaging	Het
Arid3a	T	A	10: 79,786,717 (GRCm39)	M490K	probably damaging	Het
Atp6v1b1	T	A	6: 83,732,433 (GRCm39)	V251D	probably benign	Het
Cog8	C	T	8: 107,783,055 (GRCm39)	R78Q	possibly damaging	Het
Cyld	T	C	8: 89,462,522 (GRCm39)	I701T	probably damaging	Het
Dmgdh	A	G	13: 93,811,047 (GRCm39)		probably benign	Het
Dnm1	T	C	2: 32,205,931 (GRCm39)		probably null	Het
Dop1b	T	A	16: 93,574,293 (GRCm39)	V2D	probably damaging	Het
Dusp22	A	T	13: 30,889,628 (GRCm39)	S70C	possibly damaging	Het
Dync2h1	T	C	9: 7,035,700 (GRCm39)	Q3415R	possibly damaging	Het
Dysf	T	C	6: 84,163,498 (GRCm39)		probably benign	Het
Fam114a1	G	A	5: 65,163,491 (GRCm39)		probably null	Het
Fam20a	T	A	11: 109,568,620 (GRCm39)	Q302L	possibly damaging	Het
Fcgbpl1	G	A	7: 27,857,317 (GRCm39)	E2222K	probably benign	Het
Fgf17	G	A	14: 70,874,178 (GRCm39)	Q204*	probably null	Het
Gap43	T	C	16: 42,112,495 (GRCm39)	T89A	probably benign	Het
Gm5069	A	G	1: 180,155,464 (GRCm39)		probably benign	Het
Gm9913	C	T	2: 125,348,254 (GRCm39)		probably benign	Het
Gpr174	T	C	X: 106,336,854 (GRCm39)	L222P	probably benign	Het
Grid2	A	T	6: 64,322,857 (GRCm39)	Q619L	possibly damaging	Het
Hoxc13	A	G	15: 102,830,233 (GRCm39)	D204G	possibly damaging	Het
Itgav	T	C	2: 83,601,580 (GRCm39)	V317A	probably benign	Het
Keg1	A	T	19: 12,696,521 (GRCm39)	N288I	probably damaging	Het
Ksr1	C	T	11: 78,935,684 (GRCm39)	V234I	possibly damaging	Het
Lrp1	T	A	10: 127,387,555 (GRCm39)	D3365V	probably damaging	Het
Luc7l3	A	T	11: 94,190,894 (GRCm39)		probably null	Het
Mta2	T	C	19: 8,925,415 (GRCm39)	I348T	probably benign	Het
Nphp4	A	G	4: 152,640,677 (GRCm39)	I1015V	probably benign	Het
Nup214	C	T	2: 31,867,872 (GRCm39)	S113F	probably damaging	Het
Or4f7	T	C	2: 111,644,162 (GRCm39)	K303R	probably benign	Het
Pabpn1l	T	A	8: 123,347,122 (GRCm39)	T228S	probably damaging	Het
Paxx	T	C	2: 25,349,674 (GRCm39)	*206W	probably null	Het
Pcdhb10	A	G	18: 37,546,126 (GRCm39)	T401A	probably benign	Het
Ppp1r3a	A	C	6: 14,719,761 (GRCm39)	D384E	probably benign	Het
Rif1	T	C	2: 51,967,077 (GRCm39)	V122A	probably damaging	Het
Scn4b	T	C	9: 45,057,980 (GRCm39)	L24P	probably damaging	Het
Sec22c	T	C	9: 121,513,716 (GRCm39)		probably benign	Het
Sh3rf2	A	G	18: 42,289,207 (GRCm39)	D676G	probably damaging	Het
Slc20a1	A	G	2: 129,049,604 (GRCm39)	T289A	probably benign	Het
Tekt2	T	C	4: 126,218,418 (GRCm39)	D84G	possibly damaging	Het
Tgfbr2	T	A	9: 115,959,066 (GRCm39)	N116I	probably benign	Het
Tmem196	A	G	12: 119,910,209 (GRCm39)	M1V	probably null	Het
Tnn	A	G	1: 159,942,123 (GRCm39)	V1125A	probably damaging	Het
Vmn2r51	A	T	7: 9,834,243 (GRCm39)	M265K	probably benign	Het
Zfp319	T	C	8: 96,050,362 (GRCm39)		probably benign	Het
Zfp65	A	T	13: 67,856,184 (GRCm39)	V365E	possibly damaging	Het
Zp3	T	A	5: 136,016,464 (GRCm39)		probably null	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
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
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