Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00556:Gsdmc2'

5835

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gsdmc2

Ensembl Gene

ENSMUSG00000056293

Gene Name

gasdermin C2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL00556

Quality Score

Status

Chromosome

Chromosomal Location

63824346-63845177 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 63828271 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089900] [ENSMUST00000188404] [ENSMUST00000188691]

AlphaFold

Q2KHK6

Predicted Effect

probably benign
Transcript: ENSMUST00000089900

SMART Domains

Protein: ENSMUSP00000087344
Gene: ENSMUSG00000056293

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	443	1.8e-157	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188404

SMART Domains

Protein: ENSMUSP00000141066
Gene: ENSMUSG00000056293

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	443	1.7e-148	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188691

SMART Domains

Protein: ENSMUSP00000140487
Gene: ENSMUSG00000056293

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	443	1.7e-148	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,784,457	D225G	probably benign	Het
Abca12	T	C	1: 71,353,757	I108V	probably benign	Het
Atad2	A	G	15: 58,100,080	I723T	probably damaging	Het
Cct4	T	A	11: 22,997,656	V233E	possibly damaging	Het
Ces1a	A	G	8: 93,045,059	Y37H	probably benign	Het
Cgnl1	C	T	9: 71,656,056	R863Q	probably benign	Het
Fam13b	T	C	18: 34,497,435	D90G	probably damaging	Het
Fhdc1	A	T	3: 84,457,242	D232E	possibly damaging	Het
Gm6370	A	G	5: 146,493,913	T303A	probably benign	Het
Kif13b	T	A	14: 64,744,888	N516K	probably damaging	Het
Med1	A	G	11: 98,155,684		probably benign	Het
Med4	T	C	14: 73,517,267	M190T	probably damaging	Het
Myo15b	T	C	11: 115,891,916	V1534A	possibly damaging	Het
Neb	T	C	2: 52,191,949	R1722G	probably benign	Het
Obp2b	A	T	2: 25,738,581	I116F	probably damaging	Het
Rims2	A	G	15: 39,456,674		probably null	Het
Siglecg	A	T	7: 43,411,795	I431F	probably benign	Het
Thap12	T	A	7: 98,716,137	V504D	possibly damaging	Het
Tlr7	A	C	X: 167,308,475	M5R	possibly damaging	Het
Tubgcp6	A	G	15: 89,100,962	V1641A	probably damaging	Het
Ugt2b1	T	A	5: 86,926,196	L101F	probably benign	Het
Xdh	A	T	17: 73,884,435	*1336R	probably null	Het

Other mutations in Gsdmc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02212:Gsdmc2	APN	15	63828062	splice site	probably benign
IGL02394:Gsdmc2	APN	15	63835880	missense	probably damaging	1.00
IGL02683:Gsdmc2	APN	15	63833412	missense	probably damaging	1.00
R0046:Gsdmc2	UTSW	15	63827755	splice site	probably benign
R0105:Gsdmc2	UTSW	15	63828177	missense	probably benign
R0105:Gsdmc2	UTSW	15	63828177	missense	probably benign
R0655:Gsdmc2	UTSW	15	63827773	missense	probably benign	0.00
R1066:Gsdmc2	UTSW	15	63825050	missense	possibly damaging	0.92
R1283:Gsdmc2	UTSW	15	63825057	missense	probably damaging	0.99
R1691:Gsdmc2	UTSW	15	63833465	missense	probably damaging	1.00
R1727:Gsdmc2	UTSW	15	63849779	unclassified	probably benign
R1911:Gsdmc2	UTSW	15	63827772	missense	probably benign	0.00
R1990:Gsdmc2	UTSW	15	63828237	missense	probably benign	0.00
R1991:Gsdmc2	UTSW	15	63828237	missense	probably benign	0.00
R2018:Gsdmc2	UTSW	15	63828126	splice site	probably null
R2090:Gsdmc2	UTSW	15	63826826	missense	probably benign	0.09
R3037:Gsdmc2	UTSW	15	63833331	missense	probably benign	0.00
R3964:Gsdmc2	UTSW	15	63849834	unclassified	probably benign
R4308:Gsdmc2	UTSW	15	63848705	unclassified	probably benign
R4574:Gsdmc2	UTSW	15	63828023	critical splice donor site	probably null
R4738:Gsdmc2	UTSW	15	63826801	nonsense	probably null
R4873:Gsdmc2	UTSW	15	63828252	missense	probably benign	0.41
R4875:Gsdmc2	UTSW	15	63828252	missense	probably benign	0.41
R4883:Gsdmc2	UTSW	15	63835765	missense	probably damaging	1.00
R5115:Gsdmc2	UTSW	15	63827768	missense	probably benign	0.00
R5241:Gsdmc2	UTSW	15	63824894	missense	probably benign	0.00
R5510:Gsdmc2	UTSW	15	63828196	missense	probably benign
R5841:Gsdmc2	UTSW	15	63826210	missense	probably benign	0.00
R5987:Gsdmc2	UTSW	15	63830866	missense	probably benign	0.00
R6199:Gsdmc2	UTSW	15	63825113	missense	probably benign	0.01
R6359:Gsdmc2	UTSW	15	63825017	missense	probably damaging	1.00
R6610:Gsdmc2	UTSW	15	63825008	missense	probably benign	0.03
R6984:Gsdmc2	UTSW	15	63825049	nonsense	probably null
R7092:Gsdmc2	UTSW	15	63825098	missense	probably damaging	0.99
R7204:Gsdmc2	UTSW	15	63825054	missense	probably damaging	1.00
R7247:Gsdmc2	UTSW	15	63833334	missense	probably benign	0.02
R7409:Gsdmc2	UTSW	15	63833346	missense	possibly damaging	0.85
R7589:Gsdmc2	UTSW	15	63825043	missense	probably damaging	1.00
R7636:Gsdmc2	UTSW	15	63828192	missense	probably benign	0.00
R7658:Gsdmc2	UTSW	15	63825054	missense	probably damaging	1.00
R7673:Gsdmc2	UTSW	15	63825083	missense	probably damaging	1.00
R8017:Gsdmc2	UTSW	15	63826913	missense	probably benign	0.28
R8019:Gsdmc2	UTSW	15	63826913	missense	probably benign	0.28
R8368:Gsdmc2	UTSW	15	63825053	missense	probably damaging	1.00
R8512:Gsdmc2	UTSW	15	63835015	missense	probably null	0.74
R9266:Gsdmc2	UTSW	15	63826239	missense	probably damaging	1.00

Posted On

2012-04-20