Mutagenetix > Incidental Mutation

Incidental Mutation 'R1468:Fancm'

197747

Institutional Source

Beutler Lab

Gene Symbol

Fancm

Ensembl Gene

ENSMUSG00000055884

Gene Name

Fanconi anemia, complementation group M

Synonyms

D12Ertd364e, C730036B14Rik

MMRRC Submission

039521-MU

Accession Numbers

Ncbi RefSeq: NM_178912.3; MGI:2442306

Is this an essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R1468 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65075603-65132058 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65099293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 597 (I597F)

Ref Sequence

ENSEMBL: ENSMUSP00000054797 (fasta)

Gene Model

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

AlphaFold

Q8BGE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000058889
AA Change: I597F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: I597F

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

noncoding transcript
Transcript: ENSMUST00000222521

Predicted Effect

probably damaging
Transcript: ENSMUST00000222540
AA Change: I597F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223249

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223401

Meta Mutation Damage Score

0.2935

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

98% (106/108)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	G	7: 12,512,580	M1R	probably null	Het
4933440N22Rik	C	A	6: 117,907,579		probably benign	Het
5031439G07Rik	G	T	15: 84,953,144	P280T	probably damaging	Het
Abca2	C	T	2: 25,441,296	S1267L	probably damaging	Het
Acsl3	A	T	1: 78,706,409	R719S	probably benign	Het
Adam1a	A	T	5: 121,519,776		probably null	Het
Adamts7	T	C	9: 90,188,798		probably benign	Het
Adgrf3	G	A	5: 30,202,229		probably benign	Het
Aldh6a1	T	C	12: 84,441,770	E89G	possibly damaging	Het
Ankrd36	A	G	11: 5,575,752	Y238C	probably damaging	Het
Ankrd65	G	A	4: 155,792,905	R291Q	probably benign	Het
Ano2	C	T	6: 125,796,264	R287W	probably damaging	Het
Ap1ar	A	G	3: 127,812,566	I125T	probably benign	Het
Arid1b	A	G	17: 5,242,922	D705G	probably damaging	Het
Asb18	T	A	1: 89,996,283	N86I	probably damaging	Het
Bicral	A	T	17: 46,824,593	S564T	probably benign	Het
Bpifa6	A	G	2: 153,989,272	M253V	probably benign	Het
Braf	T	C	6: 39,665,083	D194G	probably damaging	Het
Brinp3	C	A	1: 146,901,962	P716T	probably benign	Het
C7	T	A	15: 5,012,149	Y425F	probably damaging	Het
Ccdc102a	T	C	8: 94,906,086	K421R	probably benign	Het
Cep89	G	A	7: 35,420,963		probably null	Het
Chgb	A	T	2: 132,792,800	M221L	probably benign	Het
Chst14	A	G	2: 118,927,664	Y313C	probably damaging	Het
Ciita	G	A	16: 10,513,288		probably null	Het
Clec12b	A	T	6: 129,380,640	I85N	probably damaging	Het
Clec2e	G	T	6: 129,093,496	Y187*	probably null	Het
Crbn	T	C	6: 106,790,843	K229E	probably benign	Het
Ctdspl2	A	T	2: 121,981,281	Q201L	probably benign	Het
Ctrb1	G	T	8: 111,689,409		probably benign	Het
Cyp2c55	T	A	19: 39,011,081	V77E	probably damaging	Het
Cyp2c69	A	C	19: 39,849,395	D414E	probably damaging	Het
Ddx47	T	C	6: 135,011,740		probably benign	Het
Dlg1	A	G	16: 31,842,822		probably null	Het
Dnah5	C	A	15: 28,230,463	S169*	probably null	Het
Dock4	C	A	12: 40,755,810	T927K	probably benign	Het
Esrp2	T	G	8: 106,133,821	D259A	probably damaging	Het
Fam169a	A	G	13: 97,118,530	K418R	probably benign	Het
Fam207a	A	G	10: 77,497,526		probably benign	Het
Fastkd2	G	T	1: 63,732,226		probably benign	Het
Fat1	G	A	8: 45,010,545	V1375M	probably damaging	Het
Fbxw10	A	T	11: 62,862,638	D486V	probably damaging	Het
Fech	C	T	18: 64,470,673		probably benign	Het
Fermt1	C	T	2: 132,925,022	E342K	probably benign	Het
Foxp1	T	A	6: 98,978,220	H195L	possibly damaging	Het
Gfra1	T	A	19: 58,451,975	I138L	probably benign	Het
Gm12185	T	C	11: 48,915,674	D230G	possibly damaging	Het
Gm14403	T	A	2: 177,507,231		probably benign	Het
Gpd2	A	C	2: 57,355,774	T439P	probably damaging	Het
Gpm6a	A	T	8: 55,037,350	K20N	probably damaging	Het
Hc	A	T	2: 34,983,807	Y158*	probably null	Het
Hectd4	A	T	5: 121,349,172	D3410V	possibly damaging	Het
Il17b	G	A	18: 61,690,412		probably null	Het
Irx4	G	T	13: 73,265,576	R55L	possibly damaging	Het
Itgav	A	T	2: 83,765,901		probably benign	Het
Lama3	T	C	18: 12,441,107	V582A	probably benign	Het
Ldhd	G	T	8: 111,627,293	A425E	possibly damaging	Het
Lrp1b	C	T	2: 40,927,829		probably null	Het
Lrp5	T	C	19: 3,620,191	T638A	possibly damaging	Het
Lrrk1	A	C	7: 66,259,974	F1996C	probably damaging	Het
Ly6h	G	A	15: 75,566,137	S21L	probably benign	Het
Mctp1	T	C	13: 76,825,273	V431A	probably benign	Het
Metap2	C	T	10: 93,871,483		probably null	Het
Mfsd2b	T	A	12: 4,870,536	K94*	probably null	Het
Micall2	A	G	5: 139,719,342	L79P	probably damaging	Het
Mucl2	T	C	15: 103,897,407	T95A	possibly damaging	Het
Myo15	A	T	11: 60,506,006	T2634S	probably damaging	Het
Myo5b	G	T	18: 74,740,503	V1467L	probably damaging	Het
Nfic	G	T	10: 81,420,580	D105E	probably damaging	Het
Nrd1	T	A	4: 109,016,668	F227Y	probably benign	Het
Nrp2	A	T	1: 62,738,299	I88F	probably damaging	Het
Nup160	A	T	2: 90,700,543	H515L	probably benign	Het
Nup205	G	A	6: 35,225,982		probably null	Het
Oas1g	G	A	5: 120,882,006	T179I	probably benign	Het
Ogfr	A	T	2: 180,594,750	E376V	probably damaging	Het
Olfr1212	T	G	2: 88,959,043	Y192*	probably null	Het
Olfr1241	A	T	2: 89,482,511	V208D	possibly damaging	Het
Olfr166	T	G	16: 19,487,628	S263R	probably benign	Het
Olfr478	C	T	7: 108,032,388		probably null	Het
Olfr646	G	T	7: 104,106,689	V137F	possibly damaging	Het
Pard3b	T	C	1: 62,345,029	V851A	probably benign	Het
Pcdhb16	A	T	18: 37,478,089	Y34F	probably damaging	Het
Pikfyve	T	C	1: 65,251,666	Y1215H	probably damaging	Het
Pkhd1	A	T	1: 20,523,341	V1516E	probably damaging	Het
Pla2g4a	A	T	1: 149,887,593		probably benign	Het
Ptprg	A	T	14: 12,190,767	I818F	probably benign	Het
Ralgapb	A	G	2: 158,462,253	E644G	possibly damaging	Het
Rbm45	A	G	2: 76,372,115	I127M	probably damaging	Het
Rtp2	T	C	16: 23,927,470	Y157C	probably damaging	Het
Sema3f	A	T	9: 107,687,572		probably benign	Het
Sf3b3	A	T	8: 110,837,374	Y329N	probably damaging	Het
Sfxn1	A	G	13: 54,085,627		probably null	Het
Shkbp1	A	T	7: 27,345,326	C447S	probably damaging	Het
Sipa1l3	A	G	7: 29,322,260	S689P	possibly damaging	Het
Slc7a8	A	G	14: 54,733,199	S332P	probably damaging	Het
Slit1	C	A	19: 41,608,384	C1092F	probably damaging	Het
Stard9	A	G	2: 120,703,197	I619V	possibly damaging	Het
Sycp3	T	C	10: 88,469,592	V185A	possibly damaging	Het
Taar9	A	T	10: 24,109,484	N17K	possibly damaging	Het
Tbkbp1	T	C	11: 97,148,988	E102G	probably damaging	Het
Tex44	A	G	1: 86,427,112	N248D	probably benign	Het
Tmem63b	C	G	17: 45,678,978	R88P	possibly damaging	Het
Tnpo1	C	T	13: 98,850,157	V781I	probably benign	Het
Tonsl	C	T	15: 76,636,561		probably null	Het
Ttc6	A	G	12: 57,674,677	K984R	possibly damaging	Het
Usp34	A	G	11: 23,441,171	E2263G	probably damaging	Het
Usp8	A	G	2: 126,754,927	K875E	probably damaging	Het
Vapb	C	T	2: 173,762,112		probably benign	Het
Vmn1r223	A	G	13: 23,249,868	I211V	possibly damaging	Het
Vmn2r81	G	A	10: 79,293,662	V796I	probably damaging	Het
Wdr90	A	T	17: 25,854,053	V856D	probably damaging	Het
Wnk2	T	A	13: 49,082,095	T615S	probably damaging	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
IGL02026:Fancm	APN	12	65105734	missense	probably benign	0.03
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
R7172_Fancm_370	UTSW	12	65106054	missense	possibly damaging	0.95
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
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	probably damaging	1.00
R8817:Fancm	UTSW	12	65120557	missense	probably damaging	1.00
R8878:Fancm	UTSW	12	65126748	missense	probably damaging	1.00
R9027:Fancm	UTSW	12	65075831	missense	probably damaging	1.00
R9223:Fancm	UTSW	12	65102584	missense	probably benign	0.12
R9280:Fancm	UTSW	12	65106838	missense	probably benign	0.16
R9487:Fancm	UTSW	12	65106614	nonsense	probably null
R9562:Fancm	UTSW	12	65121720	missense	probably damaging	1.00
R9565:Fancm	UTSW	12	65121720	missense	probably damaging	1.00
R9575:Fancm	UTSW	12	65105540	missense	possibly damaging	0.88
R9664:Fancm	UTSW	12	65090984	missense	probably benign	0.08
Z1176:Fancm	UTSW	12	65094926	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- CTGTATCATCCAGTCAGCCCATGC -3'
(R):5'- AAACGGCCTTCGCTGTACACTC -3'

Sequencing Primer
(F):5'- CCATGCCAAACAGTGTTGAG -3'
(R):5'- TCGCTGTACACTCCGAGC -3'

Posted On

2014-05-23