Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02026:Fancm'

184154

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

Ncbi RefSeq: NM_178912.3; MGI:2442306

Is this an essential gene?

Probably essential (E-score: 0.914) question?

Stock #

IGL02026

Quality Score

Status

Chromosome

Chromosomal Location

65075603-65132058 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 65105734 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 988 (V988G)

Ref Sequence

ENSEMBL: ENSMUSP00000054797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058889] [ENSMUST00000221838] [ENSMUST00000222540]

Predicted Effect

probably benign
Transcript: ENSMUST00000058889
AA Change: V988G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: V988G

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: ENSMUST00000221838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222521

Predicted Effect

probably benign
Transcript: ENSMUST00000222540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223401

Coding Region Coverage

Validation Efficiency

MGI Phenotype

Strain: 4355560
Lethality: D500-D600
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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,571,802	V237E	possibly damaging	Het
Amh	T	C	10: 80,805,408	L54P	probably damaging	Het
Aoc3	T	C	11: 101,337,595	S743P	probably benign	Het
Arhgap23	T	A	11: 97,451,581	W19R	probably damaging	Het
Atm	C	T	9: 53,442,417		probably null	Het
BC100530	C	A	16: 36,367,486	V6F	possibly damaging	Het
Ccdc47	T	C	11: 106,205,027	E281G	probably damaging	Het
Col7a1	A	C	9: 108,968,029	K1650N	probably damaging	Het
Evi2b	T	C	11: 79,515,787	S321G	probably damaging	Het
Gbp2	A	G	3: 142,633,480	Y431C	probably damaging	Het
Gclc	T	C	9: 77,792,060	V530A	probably benign	Het
Gm4985	T	G	X: 23,957,994	H314P	probably damaging	Het
Gm5885	T	C	6: 133,531,328		noncoding transcript	Het
Hlcs	A	T	16: 94,134,705	I576N	probably damaging	Het
Hnrnpul1	A	T	7: 25,745,162	F240L	probably damaging	Het
Itgb6	C	A	2: 60,628,066	V448F	possibly damaging	Het
Lama1	A	G	17: 67,809,292	T2385A	possibly damaging	Het
Lamc2	C	T	1: 153,144,736		probably benign	Het
Lrrc32	C	T	7: 98,499,560	R516C	probably benign	Het
Lrrtm3	T	C	10: 64,088,452	N312S	probably damaging	Het
Ltbp4	G	A	7: 27,327,417	R468*	probably null	Het
Man1a	T	C	10: 54,014,473	E373G	probably damaging	Het
Myo1h	A	T	5: 114,323,444	Q250L	probably null	Het
Myo9a	T	C	9: 59,905,962	V2077A	probably damaging	Het
Olfr114	A	G	17: 37,589,407		probably benign	Het
Otud5	C	T	X: 7,871,993		probably benign	Het
Pcsk1	A	G	13: 75,112,653	S332G	probably benign	Het
Pde8b	A	G	13: 95,034,361	V549A	probably damaging	Het
Pgap1	A	T	1: 54,494,819	M645K	probably benign	Het
Pm20d1	A	T	1: 131,801,759	R175*	probably null	Het
Polr2b	A	G	5: 77,332,252	N585S	probably benign	Het
Recql	T	A	6: 142,366,668	K41*	probably null	Het
Sccpdh	A	T	1: 179,678,069	H138L	possibly damaging	Het
Sec31a	A	T	5: 100,369,626	S951T	probably benign	Het
Slc44a4	A	T	17: 34,921,856		probably benign	Het
Tchhl1	G	T	3: 93,470,555	A189S	probably damaging	Het
Tdrd12	G	A	7: 35,504,233		probably benign	Het
Trbv12-1	A	G	6: 41,113,994	D100G	probably damaging	Het
Ttll13	T	A	7: 80,260,379	S757T	probably benign	Het
Vipas39	T	A	12: 87,251,709		probably benign	Het
Vmn1r64	G	A	7: 5,883,650	P298L	possibly damaging	Het
Vmn1r81	A	G	7: 12,260,505	S59P	probably damaging	Het
Vsx1	A	T	2: 150,688,527	V145D	probably benign	Het
Wdfy4	T	A	14: 33,093,300	N1586I	probably damaging	Het
Zan	T	A	5: 137,405,464		probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zzef1	T	A	11: 72,881,338	M1707K	probably benign	Het

Other mutations in Fancm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Fancm	APN	12	65075736	missense	possibly damaging	0.50
IGL00489:Fancm	APN	12	65106193	missense	probably benign	0.01
IGL00529:Fancm	APN	12	65130417	utr 3 prime	probably benign
IGL00898:Fancm	APN	12	65106000	missense	probably benign	0.01
IGL01805:Fancm	APN	12	65113861	critical splice donor site	probably null
IGL01986:Fancm	APN	12	65126655	nonsense	probably null
IGL02069:Fancm	APN	12	65075911	missense	probably benign	0.05
IGL02103:Fancm	APN	12	65095784	missense	probably benign	0.38
IGL02133:Fancm	APN	12	65106475	missense	probably benign	0.04
IGL02400:Fancm	APN	12	65113815	missense	probably damaging	1.00
IGL02478:Fancm	APN	12	65077090	missense	probably damaging	1.00
IGL02479:Fancm	APN	12	65106485	missense	probably damaging	0.98
IGL02563:Fancm	APN	12	65092462	missense	probably damaging	1.00
IGL02606:Fancm	APN	12	65076139	missense	possibly damaging	0.90
IGL02731:Fancm	APN	12	65088305	missense	probably benign	0.00
IGL02809:Fancm	APN	12	65121667	missense	possibly damaging	0.54
IGL02953:Fancm	APN	12	65121966	missense	probably benign	0.27
IGL03066:Fancm	APN	12	65125114	nonsense	probably null
IGL03073:Fancm	APN	12	65101632	missense	probably damaging	1.00
Fancypants	UTSW	12	65106461	missense	probably damaging	1.00
Mylord	UTSW	12	65116423	nonsense	probably null
R0041_fancm_712	UTSW	12	65106443	nonsense	probably null
BB005:Fancm	UTSW	12	65106124	missense	unknown
BB015:Fancm	UTSW	12	65106124	missense	unknown
PIT4131001:Fancm	UTSW	12	65105422	missense	probably benign	0.03
R0041:Fancm	UTSW	12	65106443	nonsense	probably null
R0041:Fancm	UTSW	12	65106443	nonsense	probably null
R0125:Fancm	UTSW	12	65121956	missense	possibly damaging	0.68
R0201:Fancm	UTSW	12	65101632	missense	probably damaging	1.00
R0360:Fancm	UTSW	12	65075950	missense	probably damaging	1.00
R0491:Fancm	UTSW	12	65106061	missense	probably benign	0.32
R0557:Fancm	UTSW	12	65118442	critical splice donor site	probably null
R0617:Fancm	UTSW	12	65097317	nonsense	probably null
R1201:Fancm	UTSW	12	65106768	missense	possibly damaging	0.66
R1353:Fancm	UTSW	12	65088170	missense	probably damaging	1.00
R1456:Fancm	UTSW	12	65118351	missense	possibly damaging	0.48
R1468:Fancm	UTSW	12	65099293	missense	probably damaging	1.00
R1468:Fancm	UTSW	12	65099293	missense	probably damaging	1.00
R1521:Fancm	UTSW	12	65121704	missense	probably benign	0.25
R1530:Fancm	UTSW	12	65092490	critical splice donor site	probably null
R1559:Fancm	UTSW	12	65093689	missense	probably benign	0.00
R1632:Fancm	UTSW	12	65130331	missense	probably damaging	1.00
R1681:Fancm	UTSW	12	65105656	missense	probably benign	0.03
R1919:Fancm	UTSW	12	65105520	missense	possibly damaging	0.48
R1969:Fancm	UTSW	12	65101692	missense	probably benign	0.09
R1971:Fancm	UTSW	12	65101692	missense	probably benign	0.09
R2117:Fancm	UTSW	12	65077174	missense	probably damaging	1.00
R2510:Fancm	UTSW	12	65113770	splice site	probably benign
R2909:Fancm	UTSW	12	65124856	missense	probably damaging	1.00
R3155:Fancm	UTSW	12	65116421	missense	probably benign	0.32
R3405:Fancm	UTSW	12	65075772	missense	probably benign	0.00
R4133:Fancm	UTSW	12	65120530	missense	probably benign	0.44
R4308:Fancm	UTSW	12	65126531	missense	probably benign	0.14
R4588:Fancm	UTSW	12	65118441	critical splice donor site	probably null
R4602:Fancm	UTSW	12	65124944	missense	probably benign	0.12
R4653:Fancm	UTSW	12	65083054	missense	probably damaging	0.99
R4702:Fancm	UTSW	12	65122052	missense	possibly damaging	0.95
R4719:Fancm	UTSW	12	65121706	missense	possibly damaging	0.64
R4885:Fancm	UTSW	12	65102643	nonsense	probably null
R4896:Fancm	UTSW	12	65075831	missense	probably damaging	1.00
R4908:Fancm	UTSW	12	65094871	missense	probably benign	0.28
R4921:Fancm	UTSW	12	65077141	missense	probably benign	0.19
R4922:Fancm	UTSW	12	65106892	critical splice donor site	probably null
R4948:Fancm	UTSW	12	65090974	missense	probably damaging	1.00
R5103:Fancm	UTSW	12	65105858	missense	probably damaging	0.99
R5577:Fancm	UTSW	12	65130411	utr 3 prime	probably benign
R5631:Fancm	UTSW	12	65113843	missense	probably damaging	0.97
R5741:Fancm	UTSW	12	65101615	missense	probably benign	0.01
R6137:Fancm	UTSW	12	65130382	missense	probably damaging	1.00
R6167:Fancm	UTSW	12	65094895	missense	probably benign	0.42
R6242:Fancm	UTSW	12	65116442	missense	probably benign	0.01
R6242:Fancm	UTSW	12	65116449	missense	probably benign	0.00
R6281:Fancm	UTSW	12	65088270	missense	probably damaging	1.00
R6325:Fancm	UTSW	12	65125052	missense	probably damaging	1.00
R6434:Fancm	UTSW	12	65077168	missense	probably damaging	1.00
R6493:Fancm	UTSW	12	65097488	missense	probably benign	0.04
R6542:Fancm	UTSW	12	65097429	missense	probably damaging	1.00
R6645:Fancm	UTSW	12	65106100	missense	probably damaging	0.99
R6878:Fancm	UTSW	12	65116423	nonsense	probably null
R7171:Fancm	UTSW	12	65101620	missense	probably damaging	0.99
R7172:Fancm	UTSW	12	65106054	missense	possibly damaging	0.95
R7498:Fancm	UTSW	12	65099391	missense	probably benign	0.01
R7585:Fancm	UTSW	12	65106247	missense	possibly damaging	0.62
R7610:Fancm	UTSW	12	65105680	missense	probably damaging	1.00
R7722:Fancm	UTSW	12	65106461	missense	probably damaging	1.00
R7740:Fancm	UTSW	12	65126547	missense	possibly damaging	0.90
R7867:Fancm	UTSW	12	65116466	critical splice donor site	probably null
R7867:Fancm	UTSW	12	65118399	missense	probably benign	0.12
R7882:Fancm	UTSW	12	65126794	missense	probably benign	0.12
R7928:Fancm	UTSW	12	65106124	missense	unknown
R8230:Fancm	UTSW	12	65102650	missense	probably benign	0.17
R8470:Fancm	UTSW	12	65125157	missense	probably damaging	1.00
R8553:Fancm	UTSW	12	65126695	missense	possibly damaging	0.62
R8695:Fancm	UTSW	12	65125173	missense	not run
R8817:Fancm	UTSW	12	65120557	missense	not run
Z1176:Fancm	UTSW	12	65094926	missense	probably benign	0.16

Posted On

2014-05-07