Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL00556

Quality Score

Status

Chromosome

Chromosomal Location

63696195-63717026 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 63700120 bp (GRCm39)

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
Abca12	T	C	1: 71,392,916 (GRCm39)	I108V	probably benign	Het
Atad2	A	G	15: 57,963,476 (GRCm39)	I723T	probably damaging	Het
Cct4	T	A	11: 22,947,656 (GRCm39)	V233E	possibly damaging	Het
Ces1a	A	G	8: 93,771,687 (GRCm39)	Y37H	probably benign	Het
Cgnl1	C	T	9: 71,563,338 (GRCm39)	R863Q	probably benign	Het
Dnaaf9	T	C	2: 130,626,377 (GRCm39)	D225G	probably benign	Het
Fam13b	T	C	18: 34,630,488 (GRCm39)	D90G	probably damaging	Het
Fhdc1	A	T	3: 84,364,549 (GRCm39)	D232E	possibly damaging	Het
Gm6370	A	G	5: 146,430,723 (GRCm39)	T303A	probably benign	Het
Kif13b	T	A	14: 64,982,337 (GRCm39)	N516K	probably damaging	Het
Med1	A	G	11: 98,046,510 (GRCm39)		probably benign	Het
Med4	T	C	14: 73,754,707 (GRCm39)	M190T	probably damaging	Het
Myo15b	T	C	11: 115,782,742 (GRCm39)	V1534A	possibly damaging	Het
Neb	T	C	2: 52,081,961 (GRCm39)	R1722G	probably benign	Het
Obp2b	A	T	2: 25,628,593 (GRCm39)	I116F	probably damaging	Het
Rims2	A	G	15: 39,320,070 (GRCm39)		probably null	Het
Siglecg	A	T	7: 43,061,219 (GRCm39)	I431F	probably benign	Het
Thap12	T	A	7: 98,365,344 (GRCm39)	V504D	possibly damaging	Het
Tlr7	A	C	X: 166,091,471 (GRCm39)	M5R	possibly damaging	Het
Tubgcp6	A	G	15: 88,985,165 (GRCm39)	V1641A	probably damaging	Het
Ugt2b1	T	A	5: 87,074,055 (GRCm39)	L101F	probably benign	Het
Xdh	A	T	17: 74,191,430 (GRCm39)	*1336R	probably null	Het

Other mutations in Gsdmc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02212:Gsdmc2	APN	15	63,699,911 (GRCm39)	splice site	probably benign
IGL02394:Gsdmc2	APN	15	63,707,729 (GRCm39)	missense	probably damaging	1.00
IGL02683:Gsdmc2	APN	15	63,705,261 (GRCm39)	missense	probably damaging	1.00
R0046:Gsdmc2	UTSW	15	63,699,604 (GRCm39)	splice site	probably benign
R0105:Gsdmc2	UTSW	15	63,700,026 (GRCm39)	missense	probably benign
R0105:Gsdmc2	UTSW	15	63,700,026 (GRCm39)	missense	probably benign
R0655:Gsdmc2	UTSW	15	63,699,622 (GRCm39)	missense	probably benign	0.00
R1066:Gsdmc2	UTSW	15	63,696,899 (GRCm39)	missense	possibly damaging	0.92
R1283:Gsdmc2	UTSW	15	63,696,906 (GRCm39)	missense	probably damaging	0.99
R1691:Gsdmc2	UTSW	15	63,705,314 (GRCm39)	missense	probably damaging	1.00
R1727:Gsdmc2	UTSW	15	63,721,628 (GRCm39)	unclassified	probably benign
R1911:Gsdmc2	UTSW	15	63,699,621 (GRCm39)	missense	probably benign	0.00
R1990:Gsdmc2	UTSW	15	63,700,086 (GRCm39)	missense	probably benign	0.00
R1991:Gsdmc2	UTSW	15	63,700,086 (GRCm39)	missense	probably benign	0.00
R2018:Gsdmc2	UTSW	15	63,699,975 (GRCm39)	splice site	probably null
R2090:Gsdmc2	UTSW	15	63,698,675 (GRCm39)	missense	probably benign	0.09
R3037:Gsdmc2	UTSW	15	63,705,180 (GRCm39)	missense	probably benign	0.00
R3964:Gsdmc2	UTSW	15	63,721,683 (GRCm39)	unclassified	probably benign
R4308:Gsdmc2	UTSW	15	63,720,554 (GRCm39)	unclassified	probably benign
R4574:Gsdmc2	UTSW	15	63,699,872 (GRCm39)	critical splice donor site	probably null
R4738:Gsdmc2	UTSW	15	63,698,650 (GRCm39)	nonsense	probably null
R4873:Gsdmc2	UTSW	15	63,700,101 (GRCm39)	missense	probably benign	0.41
R4875:Gsdmc2	UTSW	15	63,700,101 (GRCm39)	missense	probably benign	0.41
R4883:Gsdmc2	UTSW	15	63,707,614 (GRCm39)	missense	probably damaging	1.00
R5115:Gsdmc2	UTSW	15	63,699,617 (GRCm39)	missense	probably benign	0.00
R5241:Gsdmc2	UTSW	15	63,696,743 (GRCm39)	missense	probably benign	0.00
R5510:Gsdmc2	UTSW	15	63,700,045 (GRCm39)	missense	probably benign
R5841:Gsdmc2	UTSW	15	63,698,059 (GRCm39)	missense	probably benign	0.00
R5987:Gsdmc2	UTSW	15	63,702,715 (GRCm39)	missense	probably benign	0.00
R6199:Gsdmc2	UTSW	15	63,696,962 (GRCm39)	missense	probably benign	0.01
R6359:Gsdmc2	UTSW	15	63,696,866 (GRCm39)	missense	probably damaging	1.00
R6610:Gsdmc2	UTSW	15	63,696,857 (GRCm39)	missense	probably benign	0.03
R6984:Gsdmc2	UTSW	15	63,696,898 (GRCm39)	nonsense	probably null
R7092:Gsdmc2	UTSW	15	63,696,947 (GRCm39)	missense	probably damaging	0.99
R7204:Gsdmc2	UTSW	15	63,696,903 (GRCm39)	missense	probably damaging	1.00
R7247:Gsdmc2	UTSW	15	63,705,183 (GRCm39)	missense	probably benign	0.02
R7409:Gsdmc2	UTSW	15	63,705,195 (GRCm39)	missense	possibly damaging	0.85
R7589:Gsdmc2	UTSW	15	63,696,892 (GRCm39)	missense	probably damaging	1.00
R7636:Gsdmc2	UTSW	15	63,700,041 (GRCm39)	missense	probably benign	0.00
R7658:Gsdmc2	UTSW	15	63,696,903 (GRCm39)	missense	probably damaging	1.00
R7673:Gsdmc2	UTSW	15	63,696,932 (GRCm39)	missense	probably damaging	1.00
R8017:Gsdmc2	UTSW	15	63,698,762 (GRCm39)	missense	probably benign	0.28
R8019:Gsdmc2	UTSW	15	63,698,762 (GRCm39)	missense	probably benign	0.28
R8368:Gsdmc2	UTSW	15	63,696,902 (GRCm39)	missense	probably damaging	1.00
R8512:Gsdmc2	UTSW	15	63,706,864 (GRCm39)	missense	probably null	0.74
R9266:Gsdmc2	UTSW	15	63,698,088 (GRCm39)	missense	probably damaging	1.00
R9515:Gsdmc2	UTSW	15	63,702,678 (GRCm39)	missense	probably benign	0.15
R9577:Gsdmc2	UTSW	15	63,696,906 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20