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

Synonyms

MMRRC Submission

068630-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8782 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78507677-78684021 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78508306 bp (GRCm39)

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: 55,910,242 (GRCm39)		probably null	Het
Abhd16b	G	T	2: 181,136,208 (GRCm39)	R370L	probably benign	Het
Acox2	T	A	14: 8,250,035 (GRCm38)	T342S	probably damaging	Het
Adamts12	A	T	15: 11,237,678 (GRCm39)	Q329L	probably damaging	Het
Aimp1	T	C	3: 132,373,242 (GRCm39)	M233V	possibly damaging	Het
Atg16l1	A	G	1: 87,714,010 (GRCm39)	T474A	possibly damaging	Het
Atp1a1	T	C	3: 101,501,533 (GRCm39)	T57A	possibly damaging	Het
Bcat2	A	G	7: 45,234,917 (GRCm39)	D205G	probably benign	Het
Brd1	G	T	15: 88,614,834 (GRCm39)	C20*	probably null	Het
Camsap2	T	C	1: 136,204,957 (GRCm39)	M519V		Het
Caprin1	T	A	2: 103,603,133 (GRCm39)	T477S	probably benign	Het
Cdk5rap2	G	T	4: 70,161,712 (GRCm39)	Q1516K	possibly damaging	Het
Cep97	T	C	16: 55,726,084 (GRCm39)	D673G	probably benign	Het
Chat	A	T	14: 32,146,155 (GRCm39)	D339E	probably benign	Het
Col28a1	G	A	6: 8,175,227 (GRCm39)	S207F	unknown	Het
Commd10	T	A	18: 47,096,809 (GRCm39)	L72Q	probably damaging	Het
Csgalnact1	T	A	8: 68,811,307 (GRCm39)	K454N	probably damaging	Het
Ctif	G	T	18: 75,654,868 (GRCm39)	H219Q	probably benign	Het
Ddx10	A	T	9: 53,146,588 (GRCm39)	F211L	probably damaging	Het
Dhrs2	A	T	14: 55,473,538 (GRCm39)	I66F	possibly damaging	Het
Dmtf1	A	T	5: 9,179,168 (GRCm39)	D343E	probably damaging	Het
Dync2i1	C	T	12: 116,205,332 (GRCm39)	R419H	probably damaging	Het
Fam120b	A	T	17: 15,622,472 (GRCm39)	Q150L	probably damaging	Het
Fam217a	G	A	13: 35,095,033 (GRCm39)	P242L	probably benign	Het
Gcnt2	A	G	13: 41,072,229 (GRCm39)	T291A	probably damaging	Het
Gm14305	T	G	2: 176,413,213 (GRCm39)	C368W	possibly damaging	Het
Gpr158	A	G	2: 21,404,149 (GRCm39)	D307G	probably damaging	Het
Hcls1	A	G	16: 36,777,663 (GRCm39)	M261V	probably benign	Het
Hmcn1	A	G	1: 150,540,636 (GRCm39)	M2891T	probably benign	Het
Ighv1-31	A	T	12: 114,793,305 (GRCm39)	W5R	possibly damaging	Het
Impg2	A	G	16: 56,079,818 (GRCm39)	T541A	probably damaging	Het
Ints1	A	T	5: 139,744,952 (GRCm39)	L1452Q	probably benign	Het
Kcnc2	T	A	10: 112,292,437 (GRCm39)	S542T	probably benign	Het
Kif18a	C	T	2: 109,127,118 (GRCm39)	R351C	probably damaging	Het
Lactbl1	T	G	4: 136,358,329 (GRCm39)	L100R	possibly damaging	Het
Loxl3	T	C	6: 83,025,051 (GRCm39)	S260P	probably benign	Het
Lrba	A	T	3: 86,549,976 (GRCm39)	Y2315F	probably benign	Het
Lrrc32	A	T	7: 98,148,270 (GRCm39)	N350I	probably damaging	Het
Lyn	C	A	4: 3,783,055 (GRCm39)	F429L	probably damaging	Het
Matk	A	G	10: 81,098,294 (GRCm39)	K402E	probably damaging	Het
Mau2	T	C	8: 70,485,845 (GRCm39)	E121G	possibly damaging	Het
Mrgprx2	A	G	7: 48,132,299 (GRCm39)	L173P	probably damaging	Het
Mroh1	A	G	15: 76,298,496 (GRCm39)	T369A	possibly damaging	Het
Myh6	A	G	14: 55,187,357 (GRCm39)	L1308P	possibly damaging	Het
Nbeal2	T	C	9: 110,459,873 (GRCm39)	D1895G	probably benign	Het
Ncr1	A	G	7: 4,340,763 (GRCm39)	T6A	probably benign	Het
Neb	T	A	2: 52,078,785 (GRCm39)	E5819D	probably benign	Het
Neurod4	T	C	10: 130,106,948 (GRCm39)	N109D	probably damaging	Het
Nsd2	A	T	5: 34,000,485 (GRCm39)	M1L	probably benign	Het
Nwd2	A	G	5: 63,882,540 (GRCm39)	Y64C	probably damaging	Het
Olfm2	T	A	9: 20,579,501 (GRCm39)	N417Y	probably damaging	Het
Oog3	T	A	4: 143,885,962 (GRCm39)	D212V	probably benign	Het
Or13c25	T	A	4: 52,911,693 (GRCm39)	M34L	probably benign	Het
Or5p1	A	T	7: 107,916,296 (GRCm39)	H65L	probably damaging	Het
Parp1	A	G	1: 180,417,127 (GRCm39)	K637R	probably benign	Het
Pcdhga3	T	C	18: 37,807,865 (GRCm39)	L106P	probably damaging	Het
Pdk4	T	C	6: 5,494,962 (GRCm39)	N67S	possibly damaging	Het
Plcxd3	A	G	15: 4,546,250 (GRCm39)	T85A	probably benign	Het
Plxna1	T	C	6: 89,300,220 (GRCm39)	Y1621C	probably damaging	Het
Pnliprp1	T	A	19: 58,719,025 (GRCm39)	M108K	probably damaging	Het
Pou3f1	GCACCACCACCACCACCAC	GCACCACCACCACCAC	4: 124,552,807 (GRCm39)		probably benign	Het
Prl8a1	A	T	13: 27,758,011 (GRCm39)	C233S	probably damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Sgo2a	T	A	1: 58,056,616 (GRCm39)		probably benign	Het
Sh3tc1	A	T	5: 35,871,548 (GRCm39)	M328K	possibly damaging	Het
Sim1	A	G	10: 50,772,165 (GRCm39)	E58G	probably benign	Het
Slc35e3	A	G	10: 117,580,798 (GRCm39)	Y169H	probably damaging	Het
Slc8a1	T	C	17: 81,955,442 (GRCm39)	D532G	probably damaging	Het
Speer4a1	T	A	5: 26,241,754 (GRCm39)	H124L	probably benign	Het
Stab2	T	A	10: 86,735,685 (GRCm39)	T1299S	probably benign	Het
Tesmin	T	C	19: 3,445,965 (GRCm39)	V237A	probably benign	Het
Trappc11	A	T	8: 47,951,701 (GRCm39)	I984N	probably benign	Het
Ube2q2	G	A	9: 55,070,354 (GRCm39)		probably null	Het
Vmn1r169	A	G	7: 23,277,403 (GRCm39)	D265G	possibly damaging	Het
Vps13b	G	T	15: 35,422,483 (GRCm39)	V148L	possibly damaging	Het
Vwce	T	C	19: 10,615,491 (GRCm39)	V124A	probably benign	Het
Zc3h15	G	A	2: 83,491,787 (GRCm39)	R292H	probably benign	Het

Other mutations in Crim1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Crim1	APN	17	78,677,520 (GRCm39)	missense	probably damaging	1.00
IGL01090:Crim1	APN	17	78,654,658 (GRCm39)	missense	probably damaging	0.97
IGL01490:Crim1	APN	17	78,642,725 (GRCm39)	missense	possibly damaging	0.94
IGL01686:Crim1	APN	17	78,651,863 (GRCm39)	missense	probably benign	0.09
IGL01769:Crim1	APN	17	78,620,664 (GRCm39)	missense	probably benign	0.02
IGL02004:Crim1	APN	17	78,680,004 (GRCm39)	splice site	probably benign
IGL02211:Crim1	APN	17	78,662,574 (GRCm39)	missense	probably damaging	1.00
IGL02275:Crim1	APN	17	78,677,427 (GRCm39)	missense	possibly damaging	0.56
IGL02408:Crim1	APN	17	78,623,083 (GRCm39)	missense	possibly damaging	0.78
IGL02411:Crim1	APN	17	78,642,763 (GRCm39)	nonsense	probably null
IGL02453:Crim1	APN	17	78,651,913 (GRCm39)	missense	probably damaging	1.00
IGL02481:Crim1	APN	17	78,658,227 (GRCm39)	missense	probably damaging	0.98
IGL02632:Crim1	APN	17	78,680,103 (GRCm39)	missense	probably benign	0.08
IGL02652:Crim1	APN	17	78,623,106 (GRCm39)	missense	probably damaging	1.00
IGL02696:Crim1	APN	17	78,587,402 (GRCm39)	missense	probably damaging	0.96
IGL02811:Crim1	APN	17	78,658,130 (GRCm39)	missense	possibly damaging	0.62
IGL03105:Crim1	APN	17	78,623,179 (GRCm39)	splice site	probably benign
IGL03349:Crim1	APN	17	78,662,579 (GRCm39)	nonsense	probably null
bugeye	UTSW	17	78,588,776 (GRCm39)	missense	possibly damaging	0.94
IGL03097:Crim1	UTSW	17	78,675,227 (GRCm39)	missense	probably benign	0.00
R0227:Crim1	UTSW	17	78,651,938 (GRCm39)	splice site	probably benign
R0458:Crim1	UTSW	17	78,620,655 (GRCm39)	missense	probably damaging	0.98
R0482:Crim1	UTSW	17	78,680,008 (GRCm39)	missense	probably benign	0.00
R0989:Crim1	UTSW	17	78,508,373 (GRCm39)	missense	probably benign	0.21
R1266:Crim1	UTSW	17	78,508,262 (GRCm39)	small deletion	probably benign
R1529:Crim1	UTSW	17	78,675,383 (GRCm39)	missense	probably benign
R1679:Crim1	UTSW	17	78,508,228 (GRCm39)	missense	probably benign	0.27
R1909:Crim1	UTSW	17	78,620,556 (GRCm39)	missense	probably benign	0.26
R2273:Crim1	UTSW	17	78,662,608 (GRCm39)	critical splice donor site	probably null
R3899:Crim1	UTSW	17	78,588,783 (GRCm39)	missense	probably benign	0.00
R3909:Crim1	UTSW	17	78,588,668 (GRCm39)	splice site	probably benign
R4092:Crim1	UTSW	17	78,658,265 (GRCm39)	missense	probably damaging	1.00
R4154:Crim1	UTSW	17	78,545,272 (GRCm39)	missense	probably benign	0.01
R4687:Crim1	UTSW	17	78,610,454 (GRCm39)	missense	probably damaging	1.00
R5022:Crim1	UTSW	17	78,587,558 (GRCm39)	missense	possibly damaging	0.95
R5073:Crim1	UTSW	17	78,588,776 (GRCm39)	missense	possibly damaging	0.94
R5089:Crim1	UTSW	17	78,681,519 (GRCm39)	missense	probably damaging	1.00
R5284:Crim1	UTSW	17	78,620,695 (GRCm39)	missense	possibly damaging	0.83
R5461:Crim1	UTSW	17	78,545,236 (GRCm39)	missense	probably damaging	1.00
R5635:Crim1	UTSW	17	78,623,070 (GRCm39)	missense	probably damaging	1.00
R5686:Crim1	UTSW	17	78,681,512 (GRCm39)	missense	possibly damaging	0.63
R5956:Crim1	UTSW	17	78,623,146 (GRCm39)	missense	probably damaging	1.00
R6117:Crim1	UTSW	17	78,610,517 (GRCm39)	missense	probably damaging	1.00
R6129:Crim1	UTSW	17	78,588,738 (GRCm39)	missense	probably benign	0.17
R6265:Crim1	UTSW	17	78,677,514 (GRCm39)	missense	probably benign	0.01
R6812:Crim1	UTSW	17	78,623,029 (GRCm39)	missense	probably damaging	1.00
R6858:Crim1	UTSW	17	78,623,056 (GRCm39)	missense	probably damaging	1.00
R7920:Crim1	UTSW	17	78,610,493 (GRCm39)	missense	probably damaging	1.00
R8022:Crim1	UTSW	17	78,622,984 (GRCm39)	missense	possibly damaging	0.82
R8434:Crim1	UTSW	17	78,654,686 (GRCm39)	missense	probably benign	0.00
R8961:Crim1	UTSW	17	78,680,117 (GRCm39)	missense	possibly damaging	0.65
R8971:Crim1	UTSW	17	78,653,409 (GRCm39)	missense	possibly damaging	0.89
R9245:Crim1	UTSW	17	78,651,871 (GRCm39)	missense	probably damaging	1.00
R9250:Crim1	UTSW	17	78,677,471 (GRCm39)	missense	probably benign
R9401:Crim1	UTSW	17	78,658,294 (GRCm39)	frame shift	probably null
R9402:Crim1	UTSW	17	78,658,294 (GRCm39)	frame shift	probably null
R9644:Crim1	UTSW	17	78,587,497 (GRCm39)	missense	probably damaging	1.00
R9702:Crim1	UTSW	17	78,681,516 (GRCm39)	missense	probably damaging	1.00
R9710:Crim1	UTSW	17	78,610,504 (GRCm39)	nonsense	probably null
X0064:Crim1	UTSW	17	78,508,262 (GRCm39)	small deletion	probably benign
Z1088:Crim1	UTSW	17	78,675,264 (GRCm39)	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