Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01769:Crim1'

153793

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 #

IGL01769

Quality Score

Status

Chromosome

Chromosomal Location

78200248-78376592 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78313235 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 368 (T368K)

Ref Sequence

ENSEMBL: ENSMUSP00000108117 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000112498
AA Change: T368K

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: T368K

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 131,357,486	M162L	probably benign	Het
Aldh1a1	A	T	19: 20,642,919	T487S	probably benign	Het
Bahcc1	T	C	11: 120,280,204		probably benign	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Cldn10	G	A	14: 118,873,717		probably benign	Het
Cntn3	G	A	6: 102,208,184	T657I	probably damaging	Het
Crb1	A	T	1: 139,337,068	I204K	probably damaging	Het
Csad	C	A	15: 102,180,081	V237L	probably benign	Het
Cyp39a1	T	G	17: 43,749,915	H451Q	possibly damaging	Het
Dclk2	T	C	3: 86,816,360	E376G	possibly damaging	Het
Dnah10	A	T	5: 124,764,944	Y1331F	possibly damaging	Het
Dnajc11	A	T	4: 151,979,302	I452L	probably damaging	Het
Dpf2	T	C	19: 5,912,782		probably benign	Het
Elovl2	A	C	13: 41,186,944	V225G	probably damaging	Het
Fancd2	T	A	6: 113,545,111	H222Q	possibly damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Flt4	C	T	11: 49,635,171		probably benign	Het
Foxp2	T	C	6: 15,409,835	V478A	possibly damaging	Het
H2-Q1	G	A	17: 35,323,529	V317M	probably benign	Het
Igkv3-5	G	A	6: 70,663,352		probably benign	Het
Isg20	G	A	7: 78,914,381	C12Y	probably damaging	Het
Itgb4	G	A	11: 115,988,926	V635I	probably damaging	Het
Nat8f5	G	A	6: 85,817,877	R34C	probably benign	Het
Olfr924	T	C	9: 38,848,333	V73A	probably benign	Het
Pramel7	A	G	2: 87,489,588	S454P	probably benign	Het
Rarb	T	A	14: 16,443,760	E176V	probably damaging	Het
Sema4a	T	A	3: 88,449,756	I303F	possibly damaging	Het
Slc25a24	G	A	3: 109,149,500	E110K	probably damaging	Het
Slc7a13	A	T	4: 19,839,527	I377L	probably benign	Het
Smim19	T	C	8: 22,463,377		probably null	Het
Tiam2	A	G	17: 3,427,290	Y596C	probably damaging	Het
Tlr1	A	T	5: 64,925,947	L429*	probably null	Het
Ubxn8	G	A	8: 33,629,378		probably benign	Het
Vmn2r108	C	A	17: 20,471,018	M414I	probably benign	Het
Vmn2r99	A	G	17: 19,380,115	N467S	probably damaging	Het
Zfp456	T	A	13: 67,367,153	T145S	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
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
X0064:Crim1	UTSW	17	78200833	small deletion	probably benign
Z1088:Crim1	UTSW	17	78367835	missense	probably benign	0.31

Posted On

2014-02-04