Mutagenetix > Incidental Mutation

Incidental Mutation 'R5741:Fancm'

444803

Institutional Source

Beutler Lab

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 #

R5741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65122377-65178832 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65148389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 668 (N668S)

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: N668S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: N668S

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

probably benign
Transcript: ENSMUST00000221937

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222521

Predicted Effect

probably benign
Transcript: ENSMUST00000222540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223249

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223401

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	T	G	11: 106,919,315 (GRCm39)	F220C	probably damaging	Het
Acox3	C	T	5: 35,765,668 (GRCm39)	H140Y	probably benign	Het
Ano3	A	T	2: 110,488,618 (GRCm39)	I938K	probably benign	Het
Ap3m1	A	C	14: 21,095,788 (GRCm39)	I14S	possibly damaging	Het
Arg1	T	C	10: 24,793,897 (GRCm39)	T127A	probably benign	Het
Asah2	A	G	19: 31,986,015 (GRCm39)	Y552H	probably damaging	Het
Cfap97d2	A	T	8: 13,784,835 (GRCm39)	Q32L	possibly damaging	Het
Chst12	A	G	5: 140,509,688 (GRCm39)	N105S	probably benign	Het
Cped1	G	A	6: 22,123,620 (GRCm39)	V458I	probably benign	Het
Cyld	T	G	8: 89,471,474 (GRCm39)	I786S	probably damaging	Het
Cyp2j8	C	T	4: 96,332,880 (GRCm39)	V489I	probably benign	Het
Dlgap4	T	C	2: 156,552,968 (GRCm39)	Y462H	probably damaging	Het
Dnah5	C	A	15: 28,246,513 (GRCm39)	A617D	probably benign	Het
Erc2	T	A	14: 28,024,826 (GRCm39)		probably null	Het
Gm5592	A	G	7: 40,938,625 (GRCm39)	I636V	probably benign	Het
Gtf2h2	A	T	13: 100,617,066 (GRCm39)	C247S	probably benign	Het
Hyal5	T	A	6: 24,876,494 (GRCm39)	H122Q	probably damaging	Het
Ints10	G	A	8: 69,257,574 (GRCm39)	R258K	probably damaging	Het
Kir3dl1	G	A	X: 135,427,231 (GRCm39)	D56N	probably damaging	Het
Lrguk	T	A	6: 34,025,802 (GRCm39)	D199E	probably damaging	Het
Lyst	A	G	13: 13,808,615 (GRCm39)	D95G	probably benign	Het
Map2k1	A	T	9: 64,121,883 (GRCm39)	L30Q	possibly damaging	Het
Nell1	G	A	7: 50,210,638 (GRCm39)		probably null	Het
Nfatc3	T	A	8: 106,805,698 (GRCm39)	I181N	probably damaging	Het
Nipbl	T	C	15: 8,354,133 (GRCm39)	K1668R	possibly damaging	Het
Or5b113	A	G	19: 13,342,847 (GRCm39)	N285S	probably damaging	Het
Or7e170	A	G	9: 19,794,857 (GRCm39)	V248A	possibly damaging	Het
Or8d2	T	A	9: 38,759,899 (GRCm39)	L163*	probably null	Het
Otud7b	C	T	3: 96,051,615 (GRCm39)	T189I	probably damaging	Het
Pkia	A	T	3: 7,507,105 (GRCm39)	E62D	probably benign	Het
Plcb3	G	A	19: 6,931,790 (GRCm39)	Q1154*	probably null	Het
Pole4	T	C	6: 82,628,447 (GRCm39)	E105G	probably damaging	Het
Ppp1r3a	A	G	6: 14,719,882 (GRCm39)	V344A	probably damaging	Het
Ptpn21	A	T	12: 98,645,548 (GRCm39)	L1130Q	probably damaging	Het
Rapgef5	A	G	12: 117,719,764 (GRCm39)	D564G	probably damaging	Het
Samhd1	C	T	2: 156,954,751 (GRCm39)	R387H	probably benign	Het
Spag1	A	G	15: 36,183,849 (GRCm39)	K65E	possibly damaging	Het
Spata31d1d	A	T	13: 59,876,500 (GRCm39)	V345D	possibly damaging	Het
Spin1	G	A	13: 51,303,171 (GRCm39)	V255I	possibly damaging	Het
Tmem171	A	G	13: 98,828,559 (GRCm39)	V197A	probably benign	Het
Tmigd1	T	C	11: 76,797,916 (GRCm39)	V86A	possibly damaging	Het
Ttn	T	C	2: 76,542,417 (GRCm39)	D31777G	probably damaging	Het
Tymp	T	A	15: 89,260,639 (GRCm39)	M60L	probably benign	Het
Ugdh	T	C	5: 65,584,866 (GRCm39)	T19A	probably damaging	Het
Vmn1r234	G	T	17: 21,449,731 (GRCm39)	C215F	probably benign	Het
Wnt5b	T	C	6: 119,410,690 (GRCm39)	D250G	probably damaging	Het
Xrn1	T	A	9: 95,927,604 (GRCm39)	C1463S	probably benign	Het
Zfp831	T	A	2: 174,486,945 (GRCm39)	I540N	possibly damaging	Het
Zmynd8	T	C	2: 165,681,937 (GRCm39)	D189G	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTCCAGTTTCCAGAAATGGG -3'
(R):5'- TCTGGTGATTCCCTTTTAAACGACC -3'

Sequencing Primer
(F):5'- CCAGTTTCCAGAAATGGGATCTTG -3'
(R):5'- GTGATTCCCTTTTAAACGACCATTAC -3'

Posted On

2016-11-21