Mutagenetix > Incidental Mutation

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

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01769

Quality Score

Status

Chromosome

Chromosomal Location

78507677-78684021 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78620664 bp (GRCm39)

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]

AlphaFold

Q9JLL0

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: 130,959,215 (GRCm39)	M162L	probably benign	Het
Aldh1a1	A	T	19: 20,620,283 (GRCm39)	T487S	probably benign	Het
Bahcc1	T	C	11: 120,171,030 (GRCm39)		probably benign	Het
Cldn10	G	A	14: 119,111,129 (GRCm39)		probably benign	Het
Cntn3	G	A	6: 102,185,145 (GRCm39)	T657I	probably damaging	Het
Crb1	A	T	1: 139,264,806 (GRCm39)	I204K	probably damaging	Het
Csad	C	A	15: 102,088,516 (GRCm39)	V237L	probably benign	Het
Cyp39a1	T	G	17: 44,060,806 (GRCm39)	H451Q	possibly damaging	Het
Dclk2	T	C	3: 86,723,667 (GRCm39)	E376G	possibly damaging	Het
Dnah10	A	T	5: 124,842,008 (GRCm39)	Y1331F	possibly damaging	Het
Dnajc11	A	T	4: 152,063,759 (GRCm39)	I452L	probably damaging	Het
Dpf2	T	C	19: 5,962,810 (GRCm39)		probably benign	Het
Elovl2	A	C	13: 41,340,420 (GRCm39)	V225G	probably damaging	Het
Fancd2	T	A	6: 113,522,072 (GRCm39)	H222Q	possibly damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Flt4	C	T	11: 49,525,998 (GRCm39)		probably benign	Het
Foxp2	T	C	6: 15,409,834 (GRCm39)	V478A	possibly damaging	Het
H2-Q1	G	A	17: 35,542,505 (GRCm39)	V317M	probably benign	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Igkv3-5	G	A	6: 70,640,336 (GRCm39)		probably benign	Het
Isg20	G	A	7: 78,564,129 (GRCm39)	C12Y	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Nat8f5	G	A	6: 85,794,859 (GRCm39)	R34C	probably benign	Het
Or8d2	T	C	9: 38,759,629 (GRCm39)	V73A	probably benign	Het
Pramel7	A	G	2: 87,319,932 (GRCm39)	S454P	probably benign	Het
Rarb	T	A	14: 16,443,760 (GRCm38)	E176V	probably damaging	Het
Sema4a	T	A	3: 88,357,063 (GRCm39)	I303F	possibly damaging	Het
Slc25a24	G	A	3: 109,056,816 (GRCm39)	E110K	probably damaging	Het
Slc7a13	A	T	4: 19,839,527 (GRCm39)	I377L	probably benign	Het
Smim19	T	C	8: 22,953,393 (GRCm39)		probably null	Het
Tiam2	A	G	17: 3,477,565 (GRCm39)	Y596C	probably damaging	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Ubxn8	G	A	8: 34,119,406 (GRCm39)		probably benign	Het
Vmn2r108	C	A	17: 20,691,280 (GRCm39)	M414I	probably benign	Het
Vmn2r99	A	G	17: 19,600,377 (GRCm39)	N467S	probably damaging	Het
Zfp456	T	A	13: 67,515,272 (GRCm39)	T145S	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
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
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

Posted On

2014-02-04