Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01948:Gsdmc'

180979

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gsdmc

Ensembl Gene

ENSMUSG00000079025

Gene Name

gasdermin C

Synonyms

Mlze, Gsdmc1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

IGL01948

Quality Score

Status

Chromosome

Chromosomal Location

63647820-63680588 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63650430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 308 (D308G)

Ref Sequence

ENSEMBL: ENSMUSP00000133683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110125] [ENSMUST00000173503]

AlphaFold

Q99NB5

Predicted Effect

probably damaging
Transcript: ENSMUST00000110125
AA Change: D317G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105752
Gene: ENSMUSG00000079025
AA Change: D317G

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	444	6.2e-170	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173503
AA Change: D308G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133683
Gene: ENSMUSG00000079025
AA Change: D308G

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	435	9.6e-157	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	T	C	5: 3,627,326 (GRCm39)	F101L	probably damaging	Het
Cacna1d	T	C	14: 29,846,751 (GRCm39)	T552A	probably damaging	Het
Ccdc81	T	C	7: 89,525,063 (GRCm39)	D506G	possibly damaging	Het
Fam186b	T	C	15: 99,178,327 (GRCm39)	H333R	probably benign	Het
Fam222b	T	C	11: 78,045,165 (GRCm39)	V242A	probably damaging	Het
Gabra2	A	G	5: 71,119,228 (GRCm39)	F425L	probably damaging	Het
Gm10717	A	T	9: 3,025,819 (GRCm39)	T135S	probably damaging	Het
Gm8104	A	T	14: 42,966,607 (GRCm39)	M120L	probably benign	Het
Hook3	T	A	8: 26,549,340 (GRCm39)	E168V	possibly damaging	Het
Ighv5-17	T	A	12: 113,823,046 (GRCm39)	E25V	probably damaging	Het
Imp4	T	G	1: 34,483,356 (GRCm39)		probably benign	Het
Ms4a5	A	C	19: 11,256,717 (GRCm39)	M60R	probably damaging	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Prokr2	G	T	2: 132,215,603 (GRCm39)	A286E	probably damaging	Het
Ranbp9	T	A	13: 43,576,029 (GRCm39)	Q226L	probably damaging	Het
Scara3	A	G	14: 66,168,261 (GRCm39)	V452A	probably damaging	Het
Tmem38b	C	T	4: 53,850,530 (GRCm39)	P171S	probably damaging	Het
Zdhhc17	G	T	10: 110,782,137 (GRCm39)	T519K	possibly damaging	Het

Other mutations in Gsdmc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Gsdmc	APN	15	63,676,270 (GRCm39)	missense	probably benign	0.41
IGL00791:Gsdmc	APN	15	63,676,284 (GRCm39)	missense	possibly damaging	0.85
IGL01889:Gsdmc	APN	15	63,651,852 (GRCm39)	missense	possibly damaging	0.89
IGL01917:Gsdmc	APN	15	63,650,434 (GRCm39)	missense	probably benign
IGL02391:Gsdmc	APN	15	63,675,428 (GRCm39)	missense	probably damaging	0.99
IGL02479:Gsdmc	APN	15	63,649,824 (GRCm39)	missense	possibly damaging	0.87
IGL02551:Gsdmc	APN	15	63,673,782 (GRCm39)	missense	probably benign	0.00
R0115:Gsdmc	UTSW	15	63,675,486 (GRCm39)	missense	probably damaging	0.99
R1523:Gsdmc	UTSW	15	63,675,479 (GRCm39)	missense	probably damaging	0.99
R1655:Gsdmc	UTSW	15	63,651,892 (GRCm39)	missense	probably benign	0.42
R1990:Gsdmc	UTSW	15	63,673,748 (GRCm39)	missense	probably benign	0.12
R1991:Gsdmc	UTSW	15	63,673,748 (GRCm39)	missense	probably benign	0.12
R2267:Gsdmc	UTSW	15	63,648,647 (GRCm39)	missense	probably benign	0.12
R2882:Gsdmc	UTSW	15	63,651,644 (GRCm39)	missense	probably benign	0.24
R2943:Gsdmc	UTSW	15	63,675,501 (GRCm39)	missense	possibly damaging	0.91
R4110:Gsdmc	UTSW	15	63,651,876 (GRCm39)	missense	probably benign	0.08
R4712:Gsdmc	UTSW	15	63,651,386 (GRCm39)	missense	probably benign	0.01
R4963:Gsdmc	UTSW	15	63,676,229 (GRCm39)	critical splice donor site	probably null
R4997:Gsdmc	UTSW	15	63,648,629 (GRCm39)	missense	probably damaging	1.00
R5032:Gsdmc	UTSW	15	63,673,882 (GRCm39)	missense	possibly damaging	0.63
R5276:Gsdmc	UTSW	15	63,673,806 (GRCm39)	missense	probably benign	0.25
R5346:Gsdmc	UTSW	15	63,648,735 (GRCm39)	missense	probably damaging	1.00
R5963:Gsdmc	UTSW	15	63,651,965 (GRCm39)	splice site	probably null
R5965:Gsdmc	UTSW	15	63,676,447 (GRCm39)	critical splice acceptor site	probably null
R6872:Gsdmc	UTSW	15	63,650,556 (GRCm39)	missense	possibly damaging	0.79
R7035:Gsdmc	UTSW	15	63,650,569 (GRCm39)	splice site	probably null
R7408:Gsdmc	UTSW	15	63,676,315 (GRCm39)	missense	probably benign
R7719:Gsdmc	UTSW	15	63,650,813 (GRCm39)	splice site	probably null
R7862:Gsdmc	UTSW	15	63,649,845 (GRCm39)	missense	possibly damaging	0.52
R8528:Gsdmc	UTSW	15	63,649,189 (GRCm39)	splice site	probably null
R8697:Gsdmc	UTSW	15	63,651,883 (GRCm39)	missense	probably benign	0.12
R9069:Gsdmc	UTSW	15	63,649,902 (GRCm39)	missense	probably benign	0.12
R9253:Gsdmc	UTSW	15	63,676,407 (GRCm39)	missense	probably damaging	0.99
R9312:Gsdmc	UTSW	15	63,649,806 (GRCm39)	missense	probably damaging	0.98
R9385:Gsdmc	UTSW	15	63,675,486 (GRCm39)	missense	possibly damaging	0.89
R9476:Gsdmc	UTSW	15	63,650,551 (GRCm39)	missense	probably benign	0.03
R9511:Gsdmc	UTSW	15	63,649,897 (GRCm39)	missense	probably benign	0.20

Posted On

2014-05-07