Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Crim1'

617495

Institutional Source

Beutler Lab

Gene Symbol

Crim1

Ensembl Gene

ENSMUSG00000024074

Gene Name

cysteine rich transmembrane BMP regulator 1

Synonyms

MMRRC Submission

067461-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78507677-78684021 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78622984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 394 (I394N)

Ref Sequence

ENSEMBL: ENSMUSP00000108117 (fasta)

Gene Model

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

AlphaFold

Q9JLL0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112498
AA Change: I394N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: I394N

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: 99.9%
10x: 99.6%
20x: 98.6%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,361,915 (GRCm39)	T1386S	probably benign	Het
AI661453	T	G	17: 47,777,161 (GRCm39)	S296A	unknown	Het
Ambp	G	T	4: 63,062,434 (GRCm39)	N268K	probably damaging	Het
Ankrd11	T	C	8: 123,614,332 (GRCm39)	K2503E	probably damaging	Het
Ap1g1	C	A	8: 110,559,367 (GRCm39)	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,455,904 (GRCm39)		probably null	Het
Aspa	A	C	11: 73,213,032 (GRCm39)	N103K	probably benign	Het
Bend7	G	A	2: 4,757,590 (GRCm39)	V211I	probably benign	Het
Bsn	A	G	9: 107,991,603 (GRCm39)	M1383T	probably benign	Het
Cad	G	T	5: 31,226,150 (GRCm39)	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,723,358 (GRCm39)	L856S	probably damaging	Het
Cdh20	T	A	1: 109,988,838 (GRCm39)	S247T	probably benign	Het
Ces1b	A	G	8: 93,795,943 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,751,605 (GRCm39)	V34E	unknown	Het
Clca3a2	A	T	3: 144,511,527 (GRCm39)	F623I	probably damaging	Het
Cope	T	G	8: 70,765,453 (GRCm39)	M217R	probably benign	Het
Crnkl1	A	T	2: 145,760,486 (GRCm39)	I644N	probably damaging	Het
Cry1	G	A	10: 84,982,266 (GRCm39)	A360V	probably damaging	Het
Ctcfl	A	T	2: 172,960,559 (GRCm39)	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,500,315 (GRCm39)	Q475*	probably null	Het
Cyp39a1	T	C	17: 44,057,468 (GRCm39)	Y436H	probably damaging	Het
Cyp3a25	T	A	5: 145,914,478 (GRCm39)	Q484L	probably benign	Het
Dnah1	A	G	14: 30,986,971 (GRCm39)	F3607S	probably damaging	Het
Dnali1	T	A	4: 124,959,323 (GRCm39)	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,081,052 (GRCm39)	I313V	probably benign	Het
Ehhadh	C	A	16: 21,596,570 (GRCm39)	A53S	probably benign	Het
Epcam	T	C	17: 87,953,736 (GRCm39)	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062 (GRCm39)	I155V	possibly damaging	Het
Fgd6	A	T	10: 93,880,206 (GRCm39)	K353N	possibly damaging	Het
Glce	A	T	9: 61,967,873 (GRCm39)	M426K	probably benign	Het
Glmp	A	T	3: 88,233,827 (GRCm39)	N228I	probably damaging	Het
Gm4787	C	A	12: 81,424,494 (GRCm39)	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,058,800 (GRCm39)	H273L	probably benign	Het
Gzmg	T	A	14: 56,394,903 (GRCm39)	T122S	probably benign	Het
Hace1	T	C	10: 45,577,066 (GRCm39)	V820A	probably damaging	Het
Igf2r	T	A	17: 12,937,682 (GRCm39)	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,366,189 (GRCm39)	M20V	probably benign	Het
Kcnn3	T	G	3: 89,517,010 (GRCm39)	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,122,446 (GRCm39)	F94Y	unknown	Het
Kmt2c	C	T	5: 25,486,678 (GRCm39)	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,639,754 (GRCm39)	E740G	probably benign	Het
Lmod3	T	C	6: 97,225,260 (GRCm39)	D187G	probably benign	Het
Lsm3	C	T	6: 91,496,543 (GRCm39)	H49Y	probably benign	Het
Lypd10	T	A	7: 24,413,599 (GRCm39)	I205N	possibly damaging	Het
Magi1	T	C	6: 93,674,346 (GRCm39)	S962G	probably damaging	Het
Man2b1	G	A	8: 85,822,242 (GRCm39)	R782Q	probably damaging	Het
Mical2	A	T	7: 111,902,974 (GRCm39)	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,299,431 (GRCm39)	Q1256*	probably null	Het
Ncam1	G	T	9: 49,476,192 (GRCm39)	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,839,136 (GRCm39)	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,515,113 (GRCm39)	N28D	probably benign	Het
Nprl2	A	C	9: 107,420,260 (GRCm39)	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510 (GRCm39)	I88N	probably damaging	Het
Oas3	A	G	5: 120,895,031 (GRCm39)	I986T	possibly damaging	Het
Or6c76	A	T	10: 129,612,654 (GRCm39)	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,247,412 (GRCm39)	Y187F	possibly damaging	Het
Pgc	A	G	17: 48,039,701 (GRCm39)	T32A	probably benign	Het
Ranbp2	A	C	10: 58,321,683 (GRCm39)	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,565 (GRCm39)	R46G		Het
Rrbp1	C	A	2: 143,798,712 (GRCm39)	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,904,050 (GRCm39)	T676S	probably benign	Het
Setdb1	A	T	3: 95,245,910 (GRCm39)	F672I	probably damaging	Het
Setdb1	T	A	3: 95,254,396 (GRCm39)	D195V	probably damaging	Het
Slc12a8	A	G	16: 33,445,456 (GRCm39)	E450G	probably benign	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc25a12	A	T	2: 71,105,533 (GRCm39)	V667E	unknown	Het
Slc39a3	T	C	10: 80,867,111 (GRCm39)	T212A	probably benign	Het
Slc45a1	C	T	4: 150,722,766 (GRCm39)	G373S	possibly damaging	Het
Snx11	G	A	11: 96,663,680 (GRCm39)	T53M	probably damaging	Het
Snx33	A	G	9: 56,832,624 (GRCm39)	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Stk32a	C	T	18: 43,448,166 (GRCm39)	Q382*	probably null	Het
Sun3	C	A	11: 8,973,376 (GRCm39)	S167I	probably damaging	Het
Sycp2	A	G	2: 177,996,855 (GRCm39)	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,888,955 (GRCm39)	T913P	probably damaging	Het
Trav8d-1	C	T	14: 53,016,284 (GRCm39)	Q57*	probably null	Het
Trio	C	G	15: 27,749,952 (GRCm39)	V2250L	probably benign	Het
Unc119b	A	T	5: 115,265,102 (GRCm39)	I204N	probably damaging	Het
Usp4	A	G	9: 108,255,670 (GRCm39)	E576G	probably damaging	Het
Uvssa	T	A	5: 33,566,848 (GRCm39)	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,459,649 (GRCm39)	Y43C	probably damaging	Het
Xpo6	G	A	7: 125,768,426 (GRCm39)	L94F	probably benign	Het
Zbtb11	A	G	16: 55,826,383 (GRCm39)	K804R	probably damaging	Het
Zfp616	A	G	11: 73,974,894 (GRCm39)	R479G	probably benign	Het
Zfp661	T	C	2: 127,419,844 (GRCm39)	T99A	probably benign	Het
Zfp839	A	T	12: 110,821,532 (GRCm39)	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,046,765 (GRCm39)		probably null	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
R8434:Crim1	UTSW	17	78,654,686 (GRCm39)	missense	probably benign	0.00
R8782:Crim1	UTSW	17	78,508,306 (GRCm39)	missense	probably damaging	1.00
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'- GTAGAAGTCCGTTATGACCGC -3'
(R):5'- AGTGCTTACCTTCACACACG -3'

Sequencing Primer
(F):5'- ACCGCTGCCTTTGGATG -3'
(R):5'- TTCACACACGGGGCAAC -3'

Posted On

2020-01-23