Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02811:Crim1'

360586

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 #

IGL02811

Quality Score

Status

Chromosome

Chromosomal Location

78507677-78684021 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78658130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 670 (K670E)

Ref Sequence

ENSEMBL: ENSMUSP00000108117 (fasta)

Gene Model

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

AlphaFold

Q9JLL0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112498
AA Change: K670E

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: K670E

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	C	T	13: 4,562,682 (GRCm39)	R90H	possibly damaging	Het
BC048679	A	T	7: 81,144,937 (GRCm39)		probably benign	Het
Chd6	T	C	2: 160,832,221 (GRCm39)	R984G	probably damaging	Het
Cobl	A	G	11: 12,203,285 (GRCm39)	I1139T	possibly damaging	Het
Coq3	A	G	4: 21,900,273 (GRCm39)	R167G	probably damaging	Het
Crtac1	T	C	19: 42,322,350 (GRCm39)	E130G	probably damaging	Het
Dcbld1	A	G	10: 52,196,069 (GRCm39)	T426A	probably benign	Het
Dimt1	T	C	13: 107,084,175 (GRCm39)		probably benign	Het
Dnal1	G	A	12: 84,178,166 (GRCm39)		probably null	Het
Fes	T	C	7: 80,029,589 (GRCm39)	Y631C	probably damaging	Het
Hemk1	A	T	9: 107,208,750 (GRCm39)	V149E	probably benign	Het
Itga6	T	C	2: 71,657,076 (GRCm39)	V397A	probably damaging	Het
Kmt2c	A	T	5: 25,520,026 (GRCm39)	L2028*	probably null	Het
Krt33b	C	A	11: 99,920,395 (GRCm39)	C86F	probably benign	Het
Lmx1a	A	G	1: 167,618,943 (GRCm39)	I101V	probably benign	Het
Mlh1	A	G	9: 111,100,582 (GRCm39)	V4A	probably benign	Het
Mroh2b	A	G	15: 4,944,718 (GRCm39)	I440V	possibly damaging	Het
Mrpl35	A	G	6: 71,795,804 (GRCm39)	Y28H	probably benign	Het
Oas3	C	A	5: 120,902,387 (GRCm39)	E636D	unknown	Het
Olfm4	T	A	14: 80,259,113 (GRCm39)	S454T	probably damaging	Het
Or4l15	T	A	14: 50,197,590 (GRCm39)		probably benign	Het
Or52ab2	T	C	7: 102,970,140 (GRCm39)	I174T	probably benign	Het
Otoa	G	T	7: 120,717,878 (GRCm39)	G365V	possibly damaging	Het
Pdgfrl	G	T	8: 41,430,005 (GRCm39)	R124L	probably damaging	Het
Rcbtb2	T	A	14: 73,411,851 (GRCm39)	V380E	probably damaging	Het
Rufy2	A	G	10: 62,836,106 (GRCm39)	D345G	probably damaging	Het
Shq1	A	T	6: 100,607,945 (GRCm39)	I322N	probably damaging	Het
Skint4	C	A	4: 111,944,200 (GRCm39)	T4K	possibly damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tbc1d5	A	G	17: 51,107,149 (GRCm39)	I469T	probably damaging	Het
Thoc3	T	C	13: 54,607,988 (GRCm39)	R319G	probably benign	Het
Tmem63a	A	G	1: 180,793,348 (GRCm39)	I507M	probably damaging	Het
Usp40	A	T	1: 87,923,458 (GRCm39)	I271N	probably damaging	Het
Vps13d	T	C	4: 144,858,335 (GRCm39)	D2157G	possibly damaging	Het
Vwa8	T	A	14: 79,231,899 (GRCm39)	V586D	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
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
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

2015-12-18