Mutagenetix > Incidental Mutation

Incidental Mutation 'R0458:Crim1'

41341

Institutional Source

Beutler Lab

Gene Symbol

Crim1

Ensembl Gene

ENSMUSG00000024074

Gene Name

cysteine rich transmembrane BMP regulator 1 (chordin like)

Synonyms

MMRRC Submission

038658-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78200248-78376592 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78313226 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 365 (I365N)

Ref Sequence

ENSEMBL: ENSMUSP00000108117 (fasta)

Gene Model

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

AlphaFold

Q9JLL0

Predicted Effect

probably damaging
Transcript: ENSMUST00000112498
AA Change: I365N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: I365N

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

Meta Mutation Damage Score

0.4153

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (79/79)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	T	C	16: 92,321,107	I98V	probably benign	Het
4933407L21Rik	A	G	1: 85,929,026	E8G	unknown	Het
9130008F23Rik	T	C	17: 40,880,236	T101A	probably benign	Het
Abcb8	C	T	5: 24,406,233	T455I	probably benign	Het
Abcb9	C	A	5: 124,082,146		probably null	Het
Akp3	T	G	1: 87,126,537	Y265*	probably null	Het
Atp6v1b1	A	T	6: 83,752,408	D109V	probably damaging	Het
Aurka	C	A	2: 172,370,446	E4*	probably null	Het
Cacna1g	T	A	11: 94,409,440	Q2168L	probably damaging	Het
Cdc45	T	A	16: 18,781,972		probably benign	Het
Cfap61	T	C	2: 146,008,917	V325A	probably benign	Het
Clasp2	T	A	9: 113,906,224		probably null	Het
Dcaf8	A	G	1: 172,174,043	N269S	probably benign	Het
Dnaaf5	T	C	5: 139,161,878	V399A	possibly damaging	Het
Ear2	A	G	14: 44,103,248	Y121C	probably damaging	Het
Eef2k	T	C	7: 120,903,290	Y692H	probably damaging	Het
Elavl2	A	T	4: 91,308,867		probably benign	Het
Epn2	C	A	11: 61,546,455	R97L	possibly damaging	Het
Fzd6	G	A	15: 39,031,281	A281T	probably damaging	Het
Garem2	T	A	5: 30,114,182	I214N	probably damaging	Het
Glg1	A	G	8: 111,160,606		probably benign	Het
Golm1	T	C	13: 59,664,364	E48G	probably damaging	Het
Gpaa1	G	T	15: 76,332,033	R12L	probably benign	Het
Gstm1	T	A	3: 108,017,363	T34S	probably benign	Het
Gtf3c1	G	A	7: 125,644,134	P1766L	possibly damaging	Het
Herc1	A	T	9: 66,476,381	Q3709L	probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,260,635		probably null	Het
Icam1	A	G	9: 21,027,861		probably null	Het
Itga9	T	C	9: 118,681,028		probably null	Het
Kif15	T	C	9: 123,009,359	F1121L	probably benign	Het
Klhl30	T	A	1: 91,360,996		probably benign	Het
Ldlrad1	T	C	4: 107,216,190	C141R	probably damaging	Het
Lemd2	T	C	17: 27,190,653	D508G	probably damaging	Het
Lilra5	A	C	7: 4,238,219	T52P	probably benign	Het
Lrtm2	G	A	6: 119,317,268	P301S	probably damaging	Het
Mcoln2	A	G	3: 146,150,013		probably benign	Het
Mkrn2os	A	G	6: 115,586,670	S135P	probably damaging	Het
Mlxipl	T	C	5: 135,133,370	V607A	probably benign	Het
Mmadhc	T	C	2: 50,281,161	Y213C	probably benign	Het
Mpo	C	A	11: 87,796,297	A223E	probably benign	Het
Mthfd2l	C	G	5: 91,020,177	I310M	probably damaging	Het
Muc5b	C	A	7: 141,864,972	A3885D	probably benign	Het
Mvp	A	G	7: 126,998,491	W152R	probably damaging	Het
Nmur2	A	T	11: 56,040,568	F106I	possibly damaging	Het
Nr3c2	T	A	8: 76,909,538	F423I	probably damaging	Het
Olfr1030	A	G	2: 85,984,256	S139G	probably benign	Het
Olfr1500	G	T	19: 13,828,229	H56N	probably benign	Het
Olfr355	A	G	2: 36,927,337	V259A	probably damaging	Het
Olfr894	G	A	9: 38,219,048	C75Y	probably damaging	Het
Pappa	A	G	4: 65,155,882	I224M	probably damaging	Het
Prex1	A	C	2: 166,585,823	S800A	probably damaging	Het
Prkaca	T	C	8: 83,995,282		probably benign	Het
Ptpru	A	T	4: 131,799,675	V662E	possibly damaging	Het
Rabep1	T	A	11: 70,886,998		probably null	Het
Rbms2	C	T	10: 128,151,189	C50Y	probably damaging	Het
Rd3	C	T	1: 191,977,453	P25S	probably damaging	Het
Rnf148	T	G	6: 23,654,257	I247L	probably benign	Het
Sf3b3	A	G	8: 110,812,136		probably benign	Het
Slc35c1	A	T	2: 92,454,513	F252Y	probably damaging	Het
Slc38a11	T	C	2: 65,363,469		probably null	Het
Snx6	G	T	12: 54,768,136	Y17*	probably null	Het
Sox6	C	A	7: 115,489,794	R611L	probably damaging	Het
Spata13	G	A	14: 60,692,043	R350H	probably damaging	Het
Sppl2a	G	T	2: 126,904,959	A483D	probably damaging	Het
Stat1	C	T	1: 52,149,052		probably benign	Het
Tab2	A	T	10: 7,919,555	Y314N	probably damaging	Het
Tor1aip1	T	C	1: 156,030,407	N213S	probably damaging	Het
Trim39	T	C	17: 36,261,512	K300E	probably damaging	Het
Tubal3	T	C	13: 3,933,137	S306P	probably damaging	Het
Ufm1	A	G	3: 53,861,234	L33P	probably damaging	Het
Washc4	G	A	10: 83,546,799	V26I	possibly damaging	Het
Wfs1	A	G	5: 36,968,669	Y293H	probably damaging	Het
Zbtb41	T	C	1: 139,423,476	V109A	probably damaging	Het
Zfp667	T	C	7: 6,304,845	S171P	probably benign	Het
Zkscan5	T	A	5: 145,205,471	H59Q	probably damaging	Het
Zswim8	C	T	14: 20,718,897	R1128W	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCTGTCTCAAAGGCACACAAAG -3'
(R):5'- TGCTCAAAGCAGAGTTTTCCTCAGG -3'

Sequencing Primer
(F):5'- ttacatcatttcctctccttcttttc -3'
(R):5'- GTATTTCCAAGTCACTACCAACATC -3'

Posted On

2013-05-23