Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02004:Crim1'

182229

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 #

IGL02004

Quality Score

Status

Chromosome

Chromosomal Location

78507677-78684021 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 78680004 bp (GRCm39)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	G	T	11: 72,082,423 (GRCm39)	A301E	possibly damaging	Het
C4b	A	T	17: 34,957,984 (GRCm39)		probably benign	Het
Cep85	A	G	4: 133,894,698 (GRCm39)	V36A	probably damaging	Het
Cnot10	A	T	9: 114,451,998 (GRCm39)	F259L	probably damaging	Het
Crispld1	G	A	1: 17,817,744 (GRCm39)	A216T	probably damaging	Het
Cyp8b1	T	C	9: 121,744,058 (GRCm39)	I425V	probably benign	Het
Fat2	A	T	11: 55,173,666 (GRCm39)	V2349D	probably damaging	Het
Fer	G	T	17: 64,231,174 (GRCm39)		probably null	Het
Galnt3	T	C	2: 65,926,270 (GRCm39)	T313A	probably damaging	Het
Hsd3b9	T	A	3: 98,363,735 (GRCm39)	R37W	probably damaging	Het
Igkv10-94	A	T	6: 68,681,928 (GRCm39)	L12*	probably null	Het
Kcnj3	G	A	2: 55,327,243 (GRCm39)	D11N	probably benign	Het
Kit	T	A	5: 75,781,674 (GRCm39)	S368T	probably benign	Het
Mark1	G	A	1: 184,644,786 (GRCm39)	S390L	possibly damaging	Het
Mpped1	C	A	15: 83,684,357 (GRCm39)	S126R	probably damaging	Het
Myh15	A	C	16: 48,930,892 (GRCm39)		probably benign	Het
Nat1	G	A	8: 67,943,878 (GRCm39)	E85K	probably benign	Het
Or9q1	T	C	19: 13,805,427 (GRCm39)	D111G	possibly damaging	Het
Pde3b	A	T	7: 114,118,852 (GRCm39)	M664L	possibly damaging	Het
Phrf1	A	G	7: 140,840,246 (GRCm39)	D1147G	probably benign	Het
Pth1r	G	T	9: 110,571,376 (GRCm39)		probably benign	Het
Shank3	C	T	15: 89,387,502 (GRCm39)		probably benign	Het
Slc39a7	A	C	17: 34,250,095 (GRCm39)		probably benign	Het
Slc6a1	A	G	6: 114,291,286 (GRCm39)	T520A	probably benign	Het
St3gal2	C	A	8: 111,696,804 (GRCm39)	A317E	probably damaging	Het
St3gal3	C	A	4: 117,817,236 (GRCm39)	L139F	possibly damaging	Het
Sval3	T	A	6: 41,949,776 (GRCm39)		probably benign	Het
Syvn1	G	A	19: 6,102,437 (GRCm39)	A502T	probably benign	Het
Tm4sf1	T	C	3: 57,200,499 (GRCm39)	I68V	possibly damaging	Het
Tnrc6a	T	A	7: 122,780,589 (GRCm39)	N1326K	possibly damaging	Het
Tvp23b	G	A	11: 62,782,826 (GRCm39)	C174Y	probably damaging	Het
Zfp750	T	C	11: 121,402,975 (GRCm39)	D591G	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
IGL02211:Crim1	APN	17	78,662,574 (GRCm39)	missense	probably damaging	1.00
IGL02275:Crim1	APN	17	78,677,427 (GRCm39)	missense	possibly damaging	0.56
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

2014-05-07