Mutagenetix > Incidental Mutations

Incidental Mutation 'R1298:Gsdmc3'

158231

Institutional Source

Beutler Lab

Gene Symbol

Gsdmc3

Ensembl Gene

ENSMUSG00000055827

Gene Name

gasdermin C3

Synonyms

9930109F21Rik

MMRRC Submission

039364-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R1298 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63857724-63878558 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63860281 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 299 (L299M)

Ref Sequence

ENSEMBL: ENSMUSP00000139472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089894] [ENSMUST00000185526] [ENSMUST00000190682]

Predicted Effect

probably damaging
Transcript: ENSMUST00000089894
AA Change: L299M

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
AA Change: L299M

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	443	2.1e-154	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000185526
AA Change: L299M

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140272
Gene: ENSMUSG00000055827
AA Change: L299M

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	443	1.4e-145	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000190682
AA Change: L299M

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
AA Change: L299M

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	443	1.4e-145	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	A	G	6: 116,427,264	W145R	probably damaging	Het
Aspm	T	A	1: 139,457,419	V267D	probably benign	Het
Bbs4	A	T	9: 59,339,813	W135R	probably damaging	Het
Cavin4	T	C	4: 48,672,593	V346A	probably benign	Het
Cdk18	A	C	1: 132,122,451		probably benign	Het
Cyp2j11	C	T	4: 96,307,260		probably null	Het
Dnah6	A	T	6: 73,159,135	I1007K	probably damaging	Het
Dnmt1	T	C	9: 20,941,456	E118G	probably benign	Het
Eef2	C	CN	10: 81,178,768		probably null	Het
Gm14496	T	C	2: 181,996,092	F320L	probably benign	Het
Gm2046	T	A	12: 87,980,083	D98E	probably benign	Het
H6pd	T	C	4: 149,982,514	I472V	probably benign	Het
Hao2	G	T	3: 98,883,669	T63K	possibly damaging	Het
Jag2	C	T	12: 112,916,319		probably benign	Het
Mapre3	A	G	5: 30,864,867	Y211C	probably damaging	Het
Mycbp2	A	G	14: 103,155,898	S2966P	probably damaging	Het
Nsd3	T	A	8: 25,679,936	V696E	possibly damaging	Het
Obscn	A	G	11: 59,054,897	Y4163H	possibly damaging	Het
Olfr1120	G	A	2: 87,358,070	A209T	probably benign	Het
Olfr747	A	T	14: 50,680,880	Y251*	probably null	Het
Olfr788	G	T	10: 129,473,064	C124F	probably damaging	Het
Pde2a	A	G	7: 101,507,202	E607G	probably benign	Het
Pinlyp	T	A	7: 24,544,966	D51V	probably damaging	Het
Rcbtb2	T	A	14: 73,162,388	I87N	probably damaging	Het
Sfswap	A	G	5: 129,541,378	I459V	probably benign	Het
Slitrk6	T	C	14: 110,751,865	N137D	possibly damaging	Het
Smg1	A	T	7: 118,168,211		probably benign	Het
Sobp	T	A	10: 43,022,335	H418L	probably damaging	Het
Spock1	A	C	13: 57,512,750	D180E	probably benign	Het
Upk3a	G	A	15: 85,020,551	V167I	probably benign	Het
Vmn1r180	T	C	7: 23,953,147	V245A	possibly damaging	Het
Zbtb25	T	C	12: 76,350,001	E149G	probably benign	Het
Zgrf1	T	C	3: 127,583,889	C44R	possibly damaging	Het

Other mutations in Gsdmc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Gsdmc3	APN	15	63859677	missense	probably benign	0.05
IGL01125:Gsdmc3	APN	15	63861457	missense	probably benign	0.09
R0490:Gsdmc3	UTSW	15	63860250	missense	possibly damaging	0.88
R0620:Gsdmc3	UTSW	15	63859693	missense	probably damaging	1.00
R0932:Gsdmc3	UTSW	15	63858551	critical splice acceptor site	probably null
R1378:Gsdmc3	UTSW	15	63859586	splice site	probably benign
R1815:Gsdmc3	UTSW	15	63869116	missense	probably damaging	1.00
R1962:Gsdmc3	UTSW	15	63858466	missense	probably damaging	1.00
R1965:Gsdmc3	UTSW	15	63858447	missense	probably damaging	1.00
R2088:Gsdmc3	UTSW	15	63860214	critical splice donor site	probably null
R2090:Gsdmc3	UTSW	15	63866782	missense	probably benign	0.07
R2126:Gsdmc3	UTSW	15	63858534	nonsense	probably null
R2276:Gsdmc3	UTSW	15	63860256	missense	probably benign	0.09
R4412:Gsdmc3	UTSW	15	63866796	missense	probably benign	0.18
R4913:Gsdmc3	UTSW	15	63858273	makesense	probably null
R5241:Gsdmc3	UTSW	15	63864146	missense	possibly damaging	0.96
R6016:Gsdmc3	UTSW	15	63868412	missense	probably benign	0.07
R6026:Gsdmc3	UTSW	15	63866751	missense	probably damaging	1.00
R6291:Gsdmc3	UTSW	15	63860241	missense	probably benign	0.00
R6698:Gsdmc3	UTSW	15	63860271	missense	possibly damaging	0.94
R7316:Gsdmc3	UTSW	15	63858402	missense	possibly damaging	0.81
R7566:Gsdmc3	UTSW	15	63861661	missense	possibly damaging	0.77
R7717:Gsdmc3	UTSW	15	63869212	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCATGGAGCTGAAATCCCCAC -3'
(R):5'- CCGTTACCAGAGCCCAACAGTATG -3'

Sequencing Primer
(F):5'- GAGCTGAAATCCCCACCTTTG -3'
(R):5'- CAGAGCCCAACAGTATGTTTCATTC -3'

Posted On

2014-02-18