Mutagenetix > Incidental Mutation

Incidental Mutation 'R8782:Crim1'

670361

Institutional Source

Beutler Lab

Gene Symbol

Crim1

Ensembl Gene

ENSMUSG00000024074

Gene Name

cysteine rich transmembrane BMP regulator 1 (chordin like)

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8782 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78200248-78376592 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78200877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 37 (C37R)

Ref Sequence

ENSEMBL: ENSMUSP00000108117 (fasta)

Gene Model

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

AlphaFold

Q9JLL0

Predicted Effect

probably damaging
Transcript: ENSMUST00000112498
AA Change: C37R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: C37R

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (73/74)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	G	9: 56,002,958		probably null	Het
Abhd16b	G	T	2: 181,494,415	R370L	probably benign	Het
Acox2	T	A	14: 8,250,035	T342S	probably damaging	Het
Adamts12	A	T	15: 11,237,592	Q329L	probably damaging	Het
Aimp1	T	C	3: 132,667,481	M233V	possibly damaging	Het
Atg16l1	A	G	1: 87,786,288	T474A	possibly damaging	Het
Atp1a1	T	C	3: 101,594,217	T57A	possibly damaging	Het
Bcat2	A	G	7: 45,585,493	D205G	probably benign	Het
Brd1	G	T	15: 88,730,631	C20*	probably null	Het
Camsap2	T	C	1: 136,277,219	M519V		Het
Caprin1	T	A	2: 103,772,788	T477S	probably benign	Het
Cdk5rap2	G	T	4: 70,243,475	Q1516K	possibly damaging	Het
Cep97	T	C	16: 55,905,721	D673G	probably benign	Het
Chat	A	T	14: 32,424,198	D339E	probably benign	Het
Col28a1	G	A	6: 8,175,227	S207F	unknown	Het
Commd10	T	A	18: 46,963,742	L72Q	probably damaging	Het
Csgalnact1	T	A	8: 68,358,655	K454N	probably damaging	Het
Ctif	G	T	18: 75,521,797	H219Q	probably benign	Het
Ddx10	A	T	9: 53,235,288	F211L	probably damaging	Het
Dhrs2	A	T	14: 55,236,081	I66F	possibly damaging	Het
Dmtf1	A	T	5: 9,129,168	D343E	probably damaging	Het
Fam120b	A	T	17: 15,402,210	Q150L	probably damaging	Het
Fam217a	G	A	13: 34,911,050	P242L	probably benign	Het
Gcnt2	A	G	13: 40,918,753	T291A	probably damaging	Het
Gm14305	T	G	2: 176,721,420	C368W	possibly damaging	Het
Gpr158	A	G	2: 21,399,338	D307G	probably damaging	Het
Hcls1	A	G	16: 36,957,301	M261V	probably benign	Het
Hmcn1	A	G	1: 150,664,885	M2891T	probably benign	Het
Ighv1-31	A	T	12: 114,829,685	W5R	possibly damaging	Het
Impg2	A	G	16: 56,259,455	T541A	probably damaging	Het
Ints1	A	T	5: 139,759,197	L1452Q	probably benign	Het
Kcnc2	T	A	10: 112,456,532	S542T	probably benign	Het
Kif18a	C	T	2: 109,296,773	R351C	probably damaging	Het
Lactbl1	T	G	4: 136,631,018	L100R	possibly damaging	Het
Loxl3	T	C	6: 83,048,070	S260P	probably benign	Het
Lrba	A	T	3: 86,642,669	Y2315F	probably benign	Het
Lrrc32	A	T	7: 98,499,063	N350I	probably damaging	Het
Lyn	C	A	4: 3,783,055	F429L	probably damaging	Het
Matk	A	G	10: 81,262,460	K402E	probably damaging	Het
Mau2	T	C	8: 70,033,195	E121G	possibly damaging	Het
Mrgprx2	A	G	7: 48,482,551	L173P	probably damaging	Het
Mroh1	A	G	15: 76,414,296	T369A	possibly damaging	Het
Myh6	A	G	14: 54,949,900	L1308P	possibly damaging	Het
Nbeal2	T	C	9: 110,630,805	D1895G	probably benign	Het
Ncr1	A	G	7: 4,337,764	T6A	probably benign	Het
Neb	T	A	2: 52,188,773	E5819D	probably benign	Het
Neurod4	T	C	10: 130,271,079	N109D	probably damaging	Het
Nsd2	A	T	5: 33,843,141	M1L	probably benign	Het
Nwd2	A	G	5: 63,725,197	Y64C	probably damaging	Het
Olfm2	T	A	9: 20,668,205	N417Y	probably damaging	Het
Olfr272	T	A	4: 52,911,693	M34L	probably benign	Het
Olfr491	A	T	7: 108,317,089	H65L	probably damaging	Het
Oog3	T	A	4: 144,159,392	D212V	probably benign	Het
Parp1	A	G	1: 180,589,562	K637R	probably benign	Het
Pcdhga3	T	C	18: 37,674,812	L106P	probably damaging	Het
Pdk4	T	C	6: 5,494,962	N67S	possibly damaging	Het
Plcxd3	A	G	15: 4,516,768	T85A	probably benign	Het
Plxna1	T	C	6: 89,323,238	Y1621C	probably damaging	Het
Pnliprp1	T	A	19: 58,730,593	M108K	probably damaging	Het
Pou3f1	GCACCACCACCACCACCAC	GCACCACCACCACCAC	4: 124,659,014		probably benign	Het
Prl8a1	A	T	13: 27,574,028	C233S	probably damaging	Het
R3hdm2	T	G	10: 127,457,652	S142A	probably damaging	Het
Sgo2a	T	A	1: 58,017,457		probably benign	Het
Sh3tc1	A	T	5: 35,714,204	M328K	possibly damaging	Het
Sim1	A	G	10: 50,896,069	E58G	probably benign	Het
Slc35e3	A	G	10: 117,744,893	Y169H	probably damaging	Het
Slc8a1	T	C	17: 81,648,013	D532G	probably damaging	Het
Speer4a	T	A	5: 26,036,756	H124L	probably benign	Het
Stab2	T	A	10: 86,899,821	T1299S	probably benign	Het
Tesmin	T	C	19: 3,395,965	V237A	probably benign	Het
Trappc11	A	T	8: 47,498,666	I984N	probably benign	Het
Ube2q2	G	A	9: 55,163,070		probably null	Het
Vmn1r169	A	G	7: 23,577,978	D265G	possibly damaging	Het
Vps13b	G	T	15: 35,422,337	V148L	possibly damaging	Het
Vwce	T	C	19: 10,638,127	V124A	probably benign	Het
Wdr60	C	T	12: 116,241,712	R419H	probably damaging	Het
Zc3h15	G	A	2: 83,661,443	R292H	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
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
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'- AAGTTTGGGTTGAACCGGAGC -3'
(R):5'- ACTTCGTACTCGGTGATGGAGTC -3'

Sequencing Primer
(F):5'- CTAGTGGGGCACGAGGAC -3'
(R):5'- TGGAGTCGCCATTGAGCG -3'

Posted On

2021-04-30