Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03066:Fancm'

409698

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 #

IGL03066

Quality Score

Status

Chromosome

Chromosomal Location

65122377-65178832 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 65171888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 86 (E86*)

Gene Model

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

AlphaFold

Q8BGE5

Predicted Effect

probably null
Transcript: ENSMUST00000058889
AA Change: E1843*

SMART Domains

Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: E1843*

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 null
Transcript: ENSMUST00000221175
AA Change: E86*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222086

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brd4	A	C	17: 32,418,062 (GRCm39)		probably benign	Het
Cd209d	C	A	8: 3,928,437 (GRCm39)		probably null	Het
Cela2a	T	A	4: 141,548,765 (GRCm39)	I124F	probably damaging	Het
Cemip2	G	A	19: 21,801,207 (GRCm39)	D775N	possibly damaging	Het
Cnot2	A	T	10: 116,335,262 (GRCm39)	N245K	probably benign	Het
Cpt2	A	G	4: 107,765,183 (GRCm39)	F148L	probably benign	Het
Ctsj	A	C	13: 61,152,302 (GRCm39)	H21Q	possibly damaging	Het
Cul4a	A	G	8: 13,183,776 (GRCm39)	N388S	probably benign	Het
Dnah12	A	G	14: 26,418,553 (GRCm39)	D147G	probably benign	Het
Dnhd1	A	G	7: 105,369,089 (GRCm39)	T4287A	probably damaging	Het
Dock10	C	A	1: 80,562,758 (GRCm39)	C534F	probably benign	Het
Efcab14	A	G	4: 115,596,001 (GRCm39)	E49G	probably benign	Het
Galnt17	A	T	5: 130,929,486 (GRCm39)	S440R	probably benign	Het
Hectd4	T	A	5: 121,503,116 (GRCm39)	Y4362N	possibly damaging	Het
Lctl	T	G	9: 64,025,017 (GRCm39)	M1R	probably null	Het
Llgl1	A	G	11: 60,596,860 (GRCm39)	T154A	possibly damaging	Het
Mink1	G	T	11: 70,499,715 (GRCm39)	V750F	probably benign	Het
Mroh7	A	G	4: 106,549,595 (GRCm39)	V950A	possibly damaging	Het
Myg1	G	A	15: 102,242,801 (GRCm39)		probably benign	Het
Or4x11	A	T	2: 89,867,778 (GRCm39)	I172F	probably damaging	Het
Or6b2b	T	A	1: 92,419,305 (GRCm39)	R57S	probably damaging	Het
Or7d10	A	G	9: 19,831,667 (GRCm39)	H54R	probably benign	Het
Pask	A	T	1: 93,258,588 (GRCm39)	S253R	probably benign	Het
Pkd1	C	A	17: 24,805,208 (GRCm39)	H3253Q	probably damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Rapgef4	A	G	2: 71,971,523 (GRCm39)		probably benign	Het
Rnf169	G	T	7: 99,574,760 (GRCm39)	R612S	possibly damaging	Het
Sclt1	A	T	3: 41,672,278 (GRCm39)	D104E	probably benign	Het
Shh	G	T	5: 28,666,369 (GRCm39)	D172E	probably damaging	Het
Sil1	G	T	18: 35,402,259 (GRCm39)		probably benign	Het
Slc19a3	A	G	1: 82,992,557 (GRCm39)	I388T	probably damaging	Het
Spink5	A	G	18: 44,149,457 (GRCm39)	Y946C	probably damaging	Het
Sulf1	A	T	1: 12,878,168 (GRCm39)	I219F	probably damaging	Het
Tcf3	T	C	10: 80,248,879 (GRCm39)	D529G	probably damaging	Het
Txnip	G	A	3: 96,466,934 (GRCm39)	E203K	probably damaging	Het
Ubc	G	T	5: 125,465,327 (GRCm39)		probably benign	Het
Ubxn4	A	T	1: 128,188,591 (GRCm39)		probably null	Het
Usp16	T	C	16: 87,268,721 (GRCm39)	V284A	probably damaging	Het
Vmn2r6	T	A	3: 64,472,574 (GRCm39)	N49I	probably damaging	Het
Ythdf1	A	T	2: 180,553,339 (GRCm39)	I292N	probably damaging	Het
Zfp128	A	G	7: 12,624,044 (GRCm39)	I137M	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
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
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

2016-08-02