Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03105:Crim1'

418944

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crim1

Ensembl Gene

ENSMUSG00000024074

Gene Name

cysteine rich transmembrane BMP regulator 1 (chordin like)

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03105

Quality Score

Status

Chromosome

Chromosomal Location

78200248-78376592 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 78315750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112498]

AlphaFold

Q9JLL0

Predicted Effect

probably benign
Transcript: ENSMUST00000112498

SMART Domains

Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
IB	35	111	1.87e-5	SMART
VWC	336	390	6.04e-13	SMART
VWC	403	456	1.15e-9	SMART
Pfam:Antistasin	469	498	4.5e-10	PFAM
Pfam:Antistasin	505	532	1.5e-8	PFAM
Pfam:Antistasin	539	564	5.7e-9	PFAM
Pfam:Antistasin	567	592	1.7e-10	PFAM
VWC	608	662	1.26e-10	SMART
VWC	679	734	1.37e-11	SMART
VWC	753	808	1.46e-11	SMART
VWC	819	873	1.01e-14	SMART
transmembrane domain	940	962	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein containing six cysteine-rich repeat domains and an insulin-like growth factor-binding domain. The encoded protein may play a role in tissue development though interactions with members of the transforming growth factor beta family, such as bone morphogenetic proteins. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mutations in this locus cause perinatal lethality, syndactyly, and eye and kidney abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adssl1	A	G	12: 112,632,721	I129V	probably benign	Het
Ankrd35	A	G	3: 96,684,057	H553R	probably benign	Het
Brca2	A	G	5: 150,560,485	K2923R	probably benign	Het
Cadm3	A	T	1: 173,345,016	L174M	probably damaging	Het
Car10	T	C	11: 93,100,275	V17A	probably benign	Het
Cep290	A	G	10: 100,551,824	K1956E	possibly damaging	Het
Cfhr1	T	A	1: 139,547,827		probably benign	Het
Dedd	G	A	1: 171,340,918	R224H	probably damaging	Het
F7	A	T	8: 13,034,001	I229L	probably null	Het
Fam208a	T	A	14: 27,442,552	C272S	probably damaging	Het
Igkv17-121	A	T	6: 68,037,300	Q112L	probably damaging	Het
Kcnk13	G	A	12: 100,061,110	R148Q	probably damaging	Het
Klk13	T	C	7: 43,721,480	L51P	probably benign	Het
Ldb2	A	G	5: 44,799,373	S41P	possibly damaging	Het
Magi2	A	G	5: 20,543,618	D767G	probably damaging	Het
Mical3	T	C	6: 121,042,238	T8A	probably benign	Het
Mkln1	G	T	6: 31,459,059	E318*	probably null	Het
Mx1	C	T	16: 97,456,354	V68I	possibly damaging	Het
Mylk2	T	C	2: 152,917,359	V350A	possibly damaging	Het
Nav2	T	A	7: 49,464,879	S870R	probably damaging	Het
Olfr19	T	C	16: 16,673,526	T152A	probably benign	Het
Olfr66	A	G	7: 103,882,132	I37T	possibly damaging	Het
Olfr668	A	T	7: 104,925,764		probably benign	Het
Olfr828	T	C	9: 18,815,389	R302G	probably benign	Het
Onecut2	A	T	18: 64,341,508	K358*	probably null	Het
Orai3	A	G	7: 127,773,553		probably benign	Het
Ppp1r32	A	G	19: 10,477,020		probably benign	Het
Rad54b	A	G	4: 11,615,569	N859S	probably benign	Het
Sec23b	C	T	2: 144,582,020	R530W	probably damaging	Het
Slc25a35	T	C	11: 68,968,670	F3S	probably damaging	Het
Slc7a11	A	T	3: 50,372,339	I491K	possibly damaging	Het
Srrt	A	T	5: 137,299,844	N317K	possibly damaging	Het
Sspo	T	C	6: 48,473,658		probably benign	Het
Taf2	A	C	15: 55,045,799	D683E	probably benign	Het
Tcerg1l	G	T	7: 138,248,444		probably benign	Het
Tg	G	T	15: 66,715,106	V1578F	probably benign	Het
Tmem43	G	A	6: 91,480,700	G188D	probably damaging	Het
Tnfrsf8	T	C	4: 145,298,784	Y73C	probably damaging	Het
Ttc21a	A	G	9: 119,942,576	Y147C	probably benign	Het
Ttn	T	A	2: 76,812,177	D11592V	probably damaging	Het
Ttn	T	C	2: 76,778,050	D17843G	probably damaging	Het
Tubgcp5	T	A	7: 55,825,581	I842N	probably damaging	Het
Unc80	A	T	1: 66,472,099	T89S	probably damaging	Het
Usp28	T	C	9: 49,039,055	M928T	probably damaging	Het
Usp43	A	G	11: 67,879,976	S611P	possibly damaging	Het
Utp20	A	G	10: 88,791,096	V1000A	probably benign	Het
Zfp263	T	C	16: 3,748,960	C380R	probably damaging	Het
Zfyve1	A	C	12: 83,558,639	C14G	probably damaging	Het

Other mutations in Crim1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Crim1	APN	17	78370091	missense	probably damaging	1.00
IGL01090:Crim1	APN	17	78347229	missense	probably damaging	0.97
IGL01490:Crim1	APN	17	78335296	missense	possibly damaging	0.94
IGL01686:Crim1	APN	17	78344434	missense	probably benign	0.09
IGL01769:Crim1	APN	17	78313235	missense	probably benign	0.02
IGL02004:Crim1	APN	17	78372575	splice site	probably benign
IGL02211:Crim1	APN	17	78355145	missense	probably damaging	1.00
IGL02275:Crim1	APN	17	78369998	missense	possibly damaging	0.56
IGL02408:Crim1	APN	17	78315654	missense	possibly damaging	0.78
IGL02411:Crim1	APN	17	78335334	nonsense	probably null
IGL02453:Crim1	APN	17	78344484	missense	probably damaging	1.00
IGL02481:Crim1	APN	17	78350798	missense	probably damaging	0.98
IGL02632:Crim1	APN	17	78372674	missense	probably benign	0.08
IGL02652:Crim1	APN	17	78315677	missense	probably damaging	1.00
IGL02696:Crim1	APN	17	78279973	missense	probably damaging	0.96
IGL02811:Crim1	APN	17	78350701	missense	possibly damaging	0.62
IGL03349:Crim1	APN	17	78355150	nonsense	probably null
bugeye	UTSW	17	78281347	missense	possibly damaging	0.94
IGL03097:Crim1	UTSW	17	78367798	missense	probably benign	0.00
R0227:Crim1	UTSW	17	78344509	splice site	probably benign
R0458:Crim1	UTSW	17	78313226	missense	probably damaging	0.98
R0482:Crim1	UTSW	17	78372579	missense	probably benign	0.00
R0989:Crim1	UTSW	17	78200944	missense	probably benign	0.21
R1266:Crim1	UTSW	17	78200833	small deletion	probably benign
R1529:Crim1	UTSW	17	78367954	missense	probably benign
R1679:Crim1	UTSW	17	78200799	missense	probably benign	0.27
R1909:Crim1	UTSW	17	78313127	missense	probably benign	0.26
R2273:Crim1	UTSW	17	78355179	critical splice donor site	probably null
R3899:Crim1	UTSW	17	78281354	missense	probably benign	0.00
R3909:Crim1	UTSW	17	78281239	splice site	probably benign
R4092:Crim1	UTSW	17	78350836	missense	probably damaging	1.00
R4154:Crim1	UTSW	17	78237843	missense	probably benign	0.01
R4687:Crim1	UTSW	17	78303025	missense	probably damaging	1.00
R5022:Crim1	UTSW	17	78280129	missense	possibly damaging	0.95
R5073:Crim1	UTSW	17	78281347	missense	possibly damaging	0.94
R5089:Crim1	UTSW	17	78374090	missense	probably damaging	1.00
R5284:Crim1	UTSW	17	78313266	missense	possibly damaging	0.83
R5461:Crim1	UTSW	17	78237807	missense	probably damaging	1.00
R5635:Crim1	UTSW	17	78315641	missense	probably damaging	1.00
R5686:Crim1	UTSW	17	78374083	missense	possibly damaging	0.63
R5956:Crim1	UTSW	17	78315717	missense	probably damaging	1.00
R6117:Crim1	UTSW	17	78303088	missense	probably damaging	1.00
R6129:Crim1	UTSW	17	78281309	missense	probably benign	0.17
R6265:Crim1	UTSW	17	78370085	missense	probably benign	0.01
R6812:Crim1	UTSW	17	78315600	missense	probably damaging	1.00
R6858:Crim1	UTSW	17	78315627	missense	probably damaging	1.00
R7920:Crim1	UTSW	17	78303064	missense	probably damaging	1.00
R8022:Crim1	UTSW	17	78315555	missense	possibly damaging	0.82
R8434:Crim1	UTSW	17	78347257	missense	probably benign	0.00
R8782:Crim1	UTSW	17	78200877	missense	probably damaging	1.00
R8961:Crim1	UTSW	17	78372688	missense	possibly damaging	0.65
R8971:Crim1	UTSW	17	78345980	missense	possibly damaging	0.89
R9245:Crim1	UTSW	17	78344442	missense	probably damaging	1.00
R9250:Crim1	UTSW	17	78370042	missense	probably benign
R9401:Crim1	UTSW	17	78350865	frame shift	probably null
R9402:Crim1	UTSW	17	78350865	frame shift	probably null
R9644:Crim1	UTSW	17	78280068	missense	probably damaging	1.00
R9702:Crim1	UTSW	17	78374087	missense	probably damaging	1.00
R9710:Crim1	UTSW	17	78303075	nonsense	probably null
X0064:Crim1	UTSW	17	78200833	small deletion	probably benign
Z1088:Crim1	UTSW	17	78367835	missense	probably benign	0.31

Posted On

2016-08-02