Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00667:Casp12'

12507

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Casp12

Ensembl Gene

ENSMUSG00000025887

Gene Name

caspase 12

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00667

Quality Score

Status

Chromosome

Chromosomal Location

5345430-5373032 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 5352665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027009] [ENSMUST00000151332] [ENSMUST00000151788]

AlphaFold

O08736

Predicted Effect

probably null
Transcript: ENSMUST00000027009

SMART Domains

Protein: ENSMUSP00000027009
Gene: ENSMUSG00000025887

Domain	Start	End	E-Value	Type
CARD	1	83	3.54e-2	SMART
CASc	165	417	2.59e-132	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149520

Predicted Effect

probably null
Transcript: ENSMUST00000151332

SMART Domains

Protein: ENSMUSP00000122201
Gene: ENSMUSG00000025887

Domain	Start	End	E-Value	Type
CASc	95	347	2.59e-132	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151788

SMART Domains

Protein: ENSMUSP00000121565
Gene: ENSMUSG00000025887

Domain	Start	End	E-Value	Type
CARD	1	83	3.54e-2	SMART
Pfam:Peptidase_C14	176	230	1.1e-8	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mice for some mutations of this gene display resistance to ER stress-induced apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	C	T	14: 68,759,387 (GRCm39)	V233I	possibly damaging	Het
Casp1	A	G	9: 5,303,756 (GRCm39)	I281V	probably benign	Het
Cd109	T	C	9: 78,592,159 (GRCm39)	Y758H	probably damaging	Het
Cfap53	T	G	18: 74,433,263 (GRCm39)	M116R	probably damaging	Het
Cldn17	A	T	16: 88,303,045 (GRCm39)		probably benign	Het
Kmt2a	A	C	9: 44,735,683 (GRCm39)		probably benign	Het
Lca5l	A	G	16: 95,962,612 (GRCm39)	S438P	possibly damaging	Het
Ube2q2l	T	A	6: 136,377,996 (GRCm39)	D278V	possibly damaging	Het
Vps13a	T	C	19: 16,737,040 (GRCm39)	D99G	probably damaging	Het
Zfp512b	C	T	2: 181,231,526 (GRCm39)	S208N	probably damaging	Het

Other mutations in Casp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00717:Casp12	APN	9	5,352,702 (GRCm39)	missense	probably damaging	1.00
IGL02326:Casp12	APN	9	5,358,317 (GRCm39)	missense	possibly damaging	0.92
R0016:Casp12	UTSW	9	5,352,844 (GRCm39)	missense	probably null	0.01
R0016:Casp12	UTSW	9	5,352,844 (GRCm39)	missense	probably null	0.01
R0329:Casp12	UTSW	9	5,345,534 (GRCm39)	splice site	probably benign
R0392:Casp12	UTSW	9	5,348,973 (GRCm39)	splice site	probably benign
R0584:Casp12	UTSW	9	5,352,268 (GRCm39)	missense	probably null	0.00
R0609:Casp12	UTSW	9	5,346,554 (GRCm39)	missense	probably damaging	1.00
R1099:Casp12	UTSW	9	5,352,204 (GRCm39)	missense	probably benign
R1951:Casp12	UTSW	9	5,348,959 (GRCm39)	critical splice donor site	probably null
R2034:Casp12	UTSW	9	5,346,491 (GRCm39)	missense	probably damaging	0.97
R4208:Casp12	UTSW	9	5,346,629 (GRCm39)	missense	probably damaging	1.00
R4558:Casp12	UTSW	9	5,352,742 (GRCm39)	missense	probably damaging	1.00
R4592:Casp12	UTSW	9	5,352,923 (GRCm39)	intron	probably benign
R4597:Casp12	UTSW	9	5,348,941 (GRCm39)	missense	possibly damaging	0.55
R4913:Casp12	UTSW	9	5,358,726 (GRCm39)	missense	probably damaging	1.00
R4965:Casp12	UTSW	9	5,352,250 (GRCm39)	missense	probably benign	0.00
R5495:Casp12	UTSW	9	5,353,797 (GRCm39)	missense	possibly damaging	0.95
R5777:Casp12	UTSW	9	5,354,548 (GRCm39)	missense	probably benign	0.01
R6641:Casp12	UTSW	9	5,354,612 (GRCm39)	missense	probably benign
R7159:Casp12	UTSW	9	5,353,763 (GRCm39)	missense	possibly damaging	0.89
R7320:Casp12	UTSW	9	5,348,897 (GRCm39)	critical splice acceptor site	probably null
R7349:Casp12	UTSW	9	5,345,527 (GRCm39)	critical splice donor site	probably null
R7636:Casp12	UTSW	9	5,358,344 (GRCm39)	missense	probably benign	0.15
R7695:Casp12	UTSW	9	5,353,641 (GRCm39)	missense	probably damaging	0.99
R7819:Casp12	UTSW	9	5,352,805 (GRCm39)	missense	probably damaging	1.00
R8071:Casp12	UTSW	9	5,346,647 (GRCm39)	missense	probably damaging	1.00
R8417:Casp12	UTSW	9	5,352,263 (GRCm39)	missense	probably benign	0.00
R8503:Casp12	UTSW	9	5,346,739 (GRCm39)	splice site	probably benign
R8514:Casp12	UTSW	9	5,352,735 (GRCm39)	missense	probably damaging	1.00
R9573:Casp12	UTSW	9	5,354,629 (GRCm39)	missense	probably benign
Z1088:Casp12	UTSW	9	5,354,582 (GRCm39)	missense	possibly damaging	0.71

Posted On

2012-12-06