Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02275:Crim1'

287318

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crim1

Ensembl Gene

ENSMUSG00000024074

Gene Name

cysteine rich transmembrane BMP regulator 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02275

Quality Score

Status

Chromosome

Chromosomal Location

78507677-78684021 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78677427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 876 (M876K)

Ref Sequence

ENSEMBL: ENSMUSP00000108117 (fasta)

Gene Model

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

AlphaFold

Q9JLL0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112498
AA Change: M876K

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: M876K

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	A	16: 3,724,146 (GRCm39)	D130V	probably damaging	Het
4930596D02Rik	T	C	14: 35,533,880 (GRCm39)	T9A	probably benign	Het
Anapc1	C	A	2: 128,501,772 (GRCm39)	A757S	probably benign	Het
Bpifa6	A	T	2: 153,834,192 (GRCm39)	D328V	probably benign	Het
Cdh19	T	A	1: 110,853,616 (GRCm39)	K275I	probably benign	Het
Col18a1	A	G	10: 76,895,217 (GRCm39)	I1148T	possibly damaging	Het
Commd1	A	T	11: 22,850,017 (GRCm39)	V222D	probably damaging	Het
Dennd1b	C	A	1: 139,008,992 (GRCm39)	H232N	probably damaging	Het
Dhx57	T	C	17: 80,582,268 (GRCm39)	T393A	probably benign	Het
Dnai7	T	C	6: 145,123,090 (GRCm39)	Y592C	probably damaging	Het
Gabrb2	G	T	11: 42,482,721 (GRCm39)	R193L	probably benign	Het
Gm5828	T	A	1: 16,839,342 (GRCm39)		noncoding transcript	Het
Gm6483	C	T	8: 19,741,629 (GRCm39)	P55S	probably damaging	Het
Hsp90ab1	T	C	17: 45,879,364 (GRCm39)	Y619C	possibly damaging	Het
Kctd19	A	G	8: 106,123,006 (GRCm39)	I136T	probably damaging	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or2w6	A	C	13: 21,843,170 (GRCm39)	F108V	probably benign	Het
Sel1l	T	C	12: 91,781,789 (GRCm39)	Y532C	probably damaging	Het
Sirpb1a	A	G	3: 15,475,469 (GRCm39)		probably null	Het
Ush2a	C	T	1: 187,995,466 (GRCm39)	T79M	possibly damaging	Het
Usp24	T	C	4: 106,244,690 (GRCm39)	V1215A	probably damaging	Het
Vdac3-ps1	T	C	13: 18,205,379 (GRCm39)		noncoding transcript	Het
Vmn2r75	T	C	7: 85,814,348 (GRCm39)	T382A	probably benign	Het
Vps53	T	C	11: 75,937,949 (GRCm39)	Y728C	probably benign	Het

Other mutations in Crim1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Crim1	APN	17	78,677,520 (GRCm39)	missense	probably damaging	1.00
IGL01090:Crim1	APN	17	78,654,658 (GRCm39)	missense	probably damaging	0.97
IGL01490:Crim1	APN	17	78,642,725 (GRCm39)	missense	possibly damaging	0.94
IGL01686:Crim1	APN	17	78,651,863 (GRCm39)	missense	probably benign	0.09
IGL01769:Crim1	APN	17	78,620,664 (GRCm39)	missense	probably benign	0.02
IGL02004:Crim1	APN	17	78,680,004 (GRCm39)	splice site	probably benign
IGL02211:Crim1	APN	17	78,662,574 (GRCm39)	missense	probably damaging	1.00
IGL02408:Crim1	APN	17	78,623,083 (GRCm39)	missense	possibly damaging	0.78
IGL02411:Crim1	APN	17	78,642,763 (GRCm39)	nonsense	probably null
IGL02453:Crim1	APN	17	78,651,913 (GRCm39)	missense	probably damaging	1.00
IGL02481:Crim1	APN	17	78,658,227 (GRCm39)	missense	probably damaging	0.98
IGL02632:Crim1	APN	17	78,680,103 (GRCm39)	missense	probably benign	0.08
IGL02652:Crim1	APN	17	78,623,106 (GRCm39)	missense	probably damaging	1.00
IGL02696:Crim1	APN	17	78,587,402 (GRCm39)	missense	probably damaging	0.96
IGL02811:Crim1	APN	17	78,658,130 (GRCm39)	missense	possibly damaging	0.62
IGL03105:Crim1	APN	17	78,623,179 (GRCm39)	splice site	probably benign
IGL03349:Crim1	APN	17	78,662,579 (GRCm39)	nonsense	probably null
bugeye	UTSW	17	78,588,776 (GRCm39)	missense	possibly damaging	0.94
IGL03097:Crim1	UTSW	17	78,675,227 (GRCm39)	missense	probably benign	0.00
R0227:Crim1	UTSW	17	78,651,938 (GRCm39)	splice site	probably benign
R0458:Crim1	UTSW	17	78,620,655 (GRCm39)	missense	probably damaging	0.98
R0482:Crim1	UTSW	17	78,680,008 (GRCm39)	missense	probably benign	0.00
R0989:Crim1	UTSW	17	78,508,373 (GRCm39)	missense	probably benign	0.21
R1266:Crim1	UTSW	17	78,508,262 (GRCm39)	small deletion	probably benign
R1529:Crim1	UTSW	17	78,675,383 (GRCm39)	missense	probably benign
R1679:Crim1	UTSW	17	78,508,228 (GRCm39)	missense	probably benign	0.27
R1909:Crim1	UTSW	17	78,620,556 (GRCm39)	missense	probably benign	0.26
R2273:Crim1	UTSW	17	78,662,608 (GRCm39)	critical splice donor site	probably null
R3899:Crim1	UTSW	17	78,588,783 (GRCm39)	missense	probably benign	0.00
R3909:Crim1	UTSW	17	78,588,668 (GRCm39)	splice site	probably benign
R4092:Crim1	UTSW	17	78,658,265 (GRCm39)	missense	probably damaging	1.00
R4154:Crim1	UTSW	17	78,545,272 (GRCm39)	missense	probably benign	0.01
R4687:Crim1	UTSW	17	78,610,454 (GRCm39)	missense	probably damaging	1.00
R5022:Crim1	UTSW	17	78,587,558 (GRCm39)	missense	possibly damaging	0.95
R5073:Crim1	UTSW	17	78,588,776 (GRCm39)	missense	possibly damaging	0.94
R5089:Crim1	UTSW	17	78,681,519 (GRCm39)	missense	probably damaging	1.00
R5284:Crim1	UTSW	17	78,620,695 (GRCm39)	missense	possibly damaging	0.83
R5461:Crim1	UTSW	17	78,545,236 (GRCm39)	missense	probably damaging	1.00
R5635:Crim1	UTSW	17	78,623,070 (GRCm39)	missense	probably damaging	1.00
R5686:Crim1	UTSW	17	78,681,512 (GRCm39)	missense	possibly damaging	0.63
R5956:Crim1	UTSW	17	78,623,146 (GRCm39)	missense	probably damaging	1.00
R6117:Crim1	UTSW	17	78,610,517 (GRCm39)	missense	probably damaging	1.00
R6129:Crim1	UTSW	17	78,588,738 (GRCm39)	missense	probably benign	0.17
R6265:Crim1	UTSW	17	78,677,514 (GRCm39)	missense	probably benign	0.01
R6812:Crim1	UTSW	17	78,623,029 (GRCm39)	missense	probably damaging	1.00
R6858:Crim1	UTSW	17	78,623,056 (GRCm39)	missense	probably damaging	1.00
R7920:Crim1	UTSW	17	78,610,493 (GRCm39)	missense	probably damaging	1.00
R8022:Crim1	UTSW	17	78,622,984 (GRCm39)	missense	possibly damaging	0.82
R8434:Crim1	UTSW	17	78,654,686 (GRCm39)	missense	probably benign	0.00
R8782:Crim1	UTSW	17	78,508,306 (GRCm39)	missense	probably damaging	1.00
R8961:Crim1	UTSW	17	78,680,117 (GRCm39)	missense	possibly damaging	0.65
R8971:Crim1	UTSW	17	78,653,409 (GRCm39)	missense	possibly damaging	0.89
R9245:Crim1	UTSW	17	78,651,871 (GRCm39)	missense	probably damaging	1.00
R9250:Crim1	UTSW	17	78,677,471 (GRCm39)	missense	probably benign
R9401:Crim1	UTSW	17	78,658,294 (GRCm39)	frame shift	probably null
R9402:Crim1	UTSW	17	78,658,294 (GRCm39)	frame shift	probably null
R9644:Crim1	UTSW	17	78,587,497 (GRCm39)	missense	probably damaging	1.00
R9702:Crim1	UTSW	17	78,681,516 (GRCm39)	missense	probably damaging	1.00
R9710:Crim1	UTSW	17	78,610,504 (GRCm39)	nonsense	probably null
X0064:Crim1	UTSW	17	78,508,262 (GRCm39)	small deletion	probably benign
Z1088:Crim1	UTSW	17	78,675,264 (GRCm39)	missense	probably benign	0.31

Posted On

2015-04-16