Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01490:Crim1'

88826

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 #

IGL01490

Quality Score

Status

Chromosome

Chromosomal Location

78200248-78376592 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78335296 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 481 (D481G)

Ref Sequence

ENSEMBL: ENSMUSP00000108117 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112498
AA Change: D481G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: D481G

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700125H20Rik	A	G	11: 85,178,312	D52G	probably damaging	Het
Abca2	A	G	2: 25,446,011	Y2131C	probably damaging	Het
Ano6	T	A	15: 95,948,410	S510T	probably benign	Het
Asb16	A	T	11: 102,276,749	N314Y	probably damaging	Het
Atp6v0b	G	A	4: 117,885,106	Q150*	probably null	Het
Clca1	C	T	3: 145,007,778	M697I	probably benign	Het
Dnajb2	T	C	1: 75,236,890	S3P	probably damaging	Het
Dnajb9	A	T	12: 44,207,086	S179R	possibly damaging	Het
Dock2	A	T	11: 34,705,781	I416N	probably damaging	Het
Dock7	G	T	4: 98,945,118		probably benign	Het
Eif6	T	C	2: 155,826,182	I46V	probably benign	Het
Fcgr1	T	C	3: 96,284,370	D374G	probably benign	Het
Gatad2b	A	G	3: 90,352,078	I374V	possibly damaging	Het
Gfpt2	T	C	11: 49,827,127		probably benign	Het
Gpr1	T	C	1: 63,183,296	Y260C	probably damaging	Het
H2-M10.2	G	T	17: 36,285,485	T156K	probably damaging	Het
Il20rb	T	A	9: 100,473,154	I79F	probably damaging	Het
Kcnip3	C	T	2: 127,510,879	R44H	probably benign	Het
Lama1	A	T	17: 67,750,584	D551V	possibly damaging	Het
Mex3b	C	A	7: 82,869,827	P450Q	possibly damaging	Het
Mmp20	T	C	9: 7,628,329	L26P	probably benign	Het
Msh3	G	A	13: 92,300,305	T499M	probably damaging	Het
Myo18b	T	C	5: 112,809,700	S1466G	possibly damaging	Het
Myom3	A	G	4: 135,810,778	R1324G	possibly damaging	Het
Nxph3	A	G	11: 95,511,093	I165T	possibly damaging	Het
Prex2	G	A	1: 11,184,545		probably null	Het
Ptpn6	T	A	6: 124,728,344	E208V	probably damaging	Het
Qpct	T	C	17: 79,089,740	V354A	probably benign	Het
Rfx4	A	G	10: 84,840,851	I108V	possibly damaging	Het
Tmem67	A	G	4: 12,057,422		probably benign	Het
Trappc12	A	T	12: 28,746,915	I206N	probably damaging	Het
Vmn1r173	A	T	7: 23,702,707	K122N	probably benign	Het
Wdr35	G	T	12: 8,977,381	G54V	probably damaging	Het
Zfyve26	A	T	12: 79,244,373	C2153S	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
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
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
X0064:Crim1	UTSW	17	78200833	small deletion	probably benign
Z1088:Crim1	UTSW	17	78367835	missense	probably benign	0.31

Posted On

2013-11-18