Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03349:Crim1'

419621

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03349

Quality Score

Status

Chromosome

Chromosomal Location

78200248-78376592 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 78355150 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 801 (K801*)

Ref Sequence

ENSEMBL: ENSMUSP00000108117 (fasta)

Gene Model

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

AlphaFold

Q9JLL0

Predicted Effect

probably null
Transcript: ENSMUST00000112498
AA Change: K801*

SMART Domains

Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: K801*

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,481,336	Y3648H	probably benign	Het
Akr1c20	T	A	13: 4,508,250	R172*	probably null	Het
Apba1	A	T	19: 23,917,575	E458D	probably benign	Het
Atg2a	T	A	19: 6,258,024	V1590D	possibly damaging	Het
Atp13a4	A	G	16: 29,456,671	S332P	probably benign	Het
Atp8b2	A	T	3: 89,957,817	F163I	probably damaging	Het
Azin2	A	T	4: 128,946,114	Y228*	probably null	Het
Cd109	C	T	9: 78,636,485	H104Y	probably benign	Het
Ces2a	G	T	8: 104,734,080	L3F	probably damaging	Het
Crebbp	A	G	16: 4,117,358	V889A	possibly damaging	Het
Cxcr1	T	C	1: 74,192,528	T112A	possibly damaging	Het
Cyp1a2	A	G	9: 57,679,875	S378P	possibly damaging	Het
Cyp2c67	T	C	19: 39,643,684	Y80C	probably damaging	Het
Dennd4a	T	C	9: 64,888,974	W761R	probably damaging	Het
Dgki	C	T	6: 37,097,627		probably null	Het
Dnase1l3	T	C	14: 7,984,146	T89A	probably benign	Het
Dock4	C	A	12: 40,733,310	Q748K	probably benign	Het
Elmo3	A	G	8: 105,306,388	E68G	possibly damaging	Het
Fer1l4	C	A	2: 156,044,734	E692*	probably null	Het
Fkbp9	T	A	6: 56,849,718	M101K	probably damaging	Het
Gm4763	T	A	7: 24,722,836	S163C	probably damaging	Het
Grin1	C	A	2: 25,310,436	V225L	probably benign	Het
Gucy2d	T	C	7: 98,449,841	V288A	possibly damaging	Het
Heatr5b	C	A	17: 78,755,320	K1933N	probably benign	Het
Hsdl1	A	T	8: 119,565,697	S260T	probably benign	Het
Hspg2	T	C	4: 137,560,522		probably benign	Het
Ift172	A	T	5: 31,284,130	V220E	probably benign	Het
Igkv12-47	C	T	6: 69,750,866		noncoding transcript	Het
Ism1	C	T	2: 139,731,975	R82*	probably null	Het
Lrch3	A	G	16: 32,955,324	T187A	probably damaging	Het
Ltbr	T	A	6: 125,312,366	D160V	probably damaging	Het
Mark3	A	T	12: 111,628,250	K353I	probably benign	Het
Mrm3	A	T	11: 76,249,946	H260L	probably damaging	Het
Nckap1	T	C	2: 80,525,560	Q627R	probably benign	Het
Neb	T	A	2: 52,278,952	Y1857F	possibly damaging	Het
Ntsr1	A	G	2: 180,500,502	T29A	probably benign	Het
Ofcc1	C	T	13: 40,072,752	G768D	probably benign	Het
Olfr181	T	C	16: 58,925,960	M204V	probably benign	Het
Pde8b	T	C	13: 95,043,043		probably benign	Het
Pld4	A	T	12: 112,767,879	Q393L	probably benign	Het
Prss23	T	C	7: 89,509,857	I335V	probably benign	Het
Prune2	A	G	19: 17,123,346	I2071M	probably damaging	Het
Ptprz1	T	A	6: 23,000,332	V807E	probably damaging	Het
Rnf20	G	A	4: 49,655,936	A961T	probably damaging	Het
Slc25a24	A	G	3: 109,149,549	Q126R	possibly damaging	Het
Slc35e1	A	T	8: 72,483,852	Y382N	probably damaging	Het
Snrpn	C	T	7: 59,985,865	G129D	probably damaging	Het
Spag9	A	T	11: 94,093,509	N386I	possibly damaging	Het
Ssna1	T	C	2: 25,271,530	N102D	possibly damaging	Het
Tcrg-C2	T	A	13: 19,305,176	T129S	probably benign	Het
Tex21	A	T	12: 76,221,591	I139N	probably benign	Het
Trim21	T	C	7: 102,563,277	T161A	probably benign	Het
Vmn2r82	T	A	10: 79,377,869	H96Q	probably benign	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
IGL03105:Crim1	APN	17	78315750	splice site	probably benign
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