Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02747:Gsdmc4'

306069

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gsdmc4

Ensembl Gene

ENSMUSG00000055748

Gene Name

gasdermin C4

Synonyms

9030605I04Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

IGL02747

Quality Score

Status

Chromosome

Chromosomal Location

63891264-63912297 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63893871 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 276 (M276I)

Ref Sequence

ENSEMBL: ENSMUSP00000140269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063530] [ENSMUST00000188108]

AlphaFold

Q3TR54

Predicted Effect

probably benign
Transcript: ENSMUST00000063530
AA Change: M276I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000066072
Gene: ENSMUSG00000055748
AA Change: M276I

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	443	1.2e-162	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177709

SMART Domains

Protein: ENSMUSP00000137240
Gene: ENSMUSG00000093867

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	161	2.1e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185431

Predicted Effect

probably benign
Transcript: ENSMUST00000188108
AA Change: M276I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000140269
Gene: ENSMUSG00000055748
AA Change: M276I

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	443	3.8e-153	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,373,282	L3373*	probably null	Het
Ap1s3	T	C	1: 79,623,692	Y94C	probably damaging	Het
BC048403	A	C	10: 121,745,550	Q152P	possibly damaging	Het
Dbx2	T	C	15: 95,632,439	T216A	probably benign	Het
Dsg4	A	G	18: 20,446,938	R67G	probably damaging	Het
Eng	G	A	2: 32,672,958		probably null	Het
Gm28042	T	A	2: 120,031,394	I206N	probably damaging	Het
Itih2	A	G	2: 10,097,945	S793P	probably benign	Het
Kcnj13	T	C	1: 87,389,365	N9D	probably benign	Het
Krt78	T	A	15: 101,950,384		probably benign	Het
Megf10	A	G	18: 57,290,493	K985E	probably benign	Het
Naa25	A	G	5: 121,414,605		probably benign	Het
Olfr918	T	C	9: 38,673,084	Y133C	probably benign	Het
Plekhm2	T	C	4: 141,634,272	T307A	possibly damaging	Het
Ppp1cc	A	G	5: 122,174,073	K301E	probably benign	Het
Ralgds	T	C	2: 28,548,110		probably benign	Het
Rccd1	A	T	7: 80,320,490	D126E	probably benign	Het
Reps1	T	C	10: 18,123,600	S712P	probably damaging	Het
Rnf103	T	A	6: 71,509,177	I264N	probably damaging	Het
Rpap1	A	G	2: 119,774,128	I433T	probably damaging	Het
Ryr2	T	G	13: 11,655,677	N3478H	probably damaging	Het
Sox30	A	G	11: 45,980,945	D209G	probably benign	Het
Sox6	A	G	7: 115,489,746	F628S	probably damaging	Het
Tas1r3	C	T	4: 155,860,460	G768D	possibly damaging	Het
Tesk2	T	C	4: 116,802,879	V398A	probably benign	Het
Tmem135	A	T	7: 89,144,670	I388N	probably damaging	Het
Tpgs2	A	G	18: 25,139,145		probably benign	Het
Vmn2r120	G	A	17: 57,524,719	H357Y	probably benign	Het

Other mutations in Gsdmc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:Gsdmc4	APN	15	63897804	missense	probably damaging	1.00
IGL02301:Gsdmc4	APN	15	63895264	missense	probably benign	0.00
IGL02586:Gsdmc4	APN	15	63893792	missense	probably damaging	0.98
IGL02829:Gsdmc4	APN	15	63892648	missense	probably benign	0.01
IGL03233:Gsdmc4	APN	15	63902860	missense	probably damaging	1.00
R0835:Gsdmc4	UTSW	15	63893800	missense	probably damaging	1.00
R0981:Gsdmc4	UTSW	15	63892073	missense	probably damaging	1.00
R1946:Gsdmc4	UTSW	15	63902780	missense	probably benign	0.19
R2350:Gsdmc4	UTSW	15	63893165	missense	probably benign
R2967:Gsdmc4	UTSW	15	63902060	missense	probably benign	0.19
R3409:Gsdmc4	UTSW	15	63892046	missense	probably benign	0.09
R3410:Gsdmc4	UTSW	15	63892046	missense	probably benign	0.09
R4067:Gsdmc4	UTSW	15	63893887	splice site	probably null
R4840:Gsdmc4	UTSW	15	63893747	missense	probably benign	0.24
R5182:Gsdmc4	UTSW	15	63893804	missense	probably damaging	1.00
R5624:Gsdmc4	UTSW	15	63892654	missense	possibly damaging	0.91
R5910:Gsdmc4	UTSW	15	63895252	missense	possibly damaging	0.77
R6533:Gsdmc4	UTSW	15	63892060	missense	probably damaging	1.00
R6698:Gsdmc4	UTSW	15	63893764	missense	probably benign	0.10
R7291:Gsdmc4	UTSW	15	63902840	missense	possibly damaging	0.81
R7598:Gsdmc4	UTSW	15	63900386	missense	probably damaging	1.00
R7691:Gsdmc4	UTSW	15	63893791	missense	probably damaging	1.00
R7851:Gsdmc4	UTSW	15	63902746	nonsense	probably null
R7881:Gsdmc4	UTSW	15	63897719	missense	possibly damaging	0.91
R8300:Gsdmc4	UTSW	15	63894941	missense	probably damaging	0.97
R8512:Gsdmc4	UTSW	15	63891959	missense	probably damaging	1.00
R9041:Gsdmc4	UTSW	15	63902737	missense	probably benign	0.10
R9357:Gsdmc4	UTSW	15	63900347	missense	probably benign	0.06
R9680:Gsdmc4	UTSW	15	63902857	missense	possibly damaging	0.61

Posted On

2015-04-16