Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02133:Fancm'

281067

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: 0.886) question?

Stock #

IGL02133

Quality Score

Status

Chromosome

Chromosomal Location

65075603-65132058 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65106475 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 1235 (G1235D)

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: G1235D

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: G1235D

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	A	14: 49,232,967	Q165L	probably benign	Het
9530068E07Rik	G	T	11: 52,403,510	A193S	probably damaging	Het
Adam4	A	G	12: 81,420,029	V606A	probably benign	Het
Atp2c2	A	G	8: 119,754,335	I821V	probably benign	Het
Bmi1	A	T	2: 18,683,677	R160W	probably damaging	Het
Ccdc88c	G	A	12: 100,940,090	R1062C	probably damaging	Het
Cntnap3	A	T	13: 64,751,673		probably benign	Het
Col20a1	C	T	2: 181,007,144	T940I	probably damaging	Het
Csmd3	A	C	15: 47,857,942	M1535R	possibly damaging	Het
Dhx38	C	A	8: 109,558,241	E487*	probably null	Het
Fam186b	A	G	15: 99,273,703	S888P	probably damaging	Het
Grin3a	C	T	4: 49,792,946	W262*	probably null	Het
Gtdc1	A	T	2: 44,575,443	M305K	probably damaging	Het
H2-M9	T	C	17: 36,641,737	E139G	possibly damaging	Het
Haus1	A	T	18: 77,766,911	L53Q	probably damaging	Het
Hgfac	A	G	5: 35,046,587	Y483C	probably damaging	Het
Hipk2	C	T	6: 38,819,134	V67I	probably benign	Het
Kbtbd8	T	C	6: 95,121,732		probably benign	Het
Kndc1	A	G	7: 139,920,767	T683A	probably benign	Het
Ldhb	A	T	6: 142,492,500	M277K	probably benign	Het
Mgam	T	C	6: 40,643,076	L33P	probably damaging	Het
Ndst1	A	G	18: 60,699,546	F571L	probably benign	Het
Neb	G	T	2: 52,212,804		probably null	Het
Nrxn1	A	G	17: 90,643,243	S503P	probably damaging	Het
Paqr3	A	G	5: 97,095,931	V308A	probably benign	Het
Scnn1g	T	C	7: 121,743,699	F292L	probably damaging	Het
Stk3	A	G	15: 35,099,516	F88S	probably damaging	Het
Tcaf2	T	A	6: 42,627,396	E683V	probably benign	Het
Tprkb	T	C	6: 85,927,911	V123A	probably benign	Het
Ush2a	T	C	1: 188,443,343	Y1213H	probably damaging	Het
Vwa5b1	A	G	4: 138,586,557		probably null	Het
Wls	A	G	3: 159,897,370	Y140C	probably damaging	Het
Zan	A	G	5: 137,411,498	S28P	possibly 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
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
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

Posted On

2015-04-16