Mutagenetix > Incidental Mutations

Incidental Mutation 'R6698:Gsdmc3'

528663

Institutional Source

Beutler Lab

Gene Symbol

Gsdmc3

Ensembl Gene

ENSMUSG00000055827

Gene Name

gasdermin C3

Synonyms

9930109F21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6698 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63857724-63878558 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63860271 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 302 (F302S)

Ref Sequence

ENSEMBL: ENSMUSP00000139472 (fasta)

Gene Model

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

AlphaFold

Q8CB12

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089894
AA Change: F302S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
AA Change: F302S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185526
AA Change: F302S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140272
Gene: ENSMUSG00000055827
AA Change: F302S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190682
AA Change: F302S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
AA Change: F302S

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brca2	T	C	5: 150,532,394	V200A	probably damaging	Het
Camk2g	T	A	14: 20,742,708	K393*	probably null	Het
Catsperb	T	A	12: 101,509,207	F337I	probably damaging	Het
Cdk17	T	C	10: 93,228,678	Y270H	probably damaging	Het
Col5a3	C	T	9: 20,779,033	G1162R	probably damaging	Het
Col6a5	T	A	9: 105,934,175	N715I	unknown	Het
Fam198b	A	G	3: 79,936,595	I10V	probably damaging	Het
Fancg	A	G	4: 43,007,034	S248P	probably benign	Het
Flvcr1	T	C	1: 191,025,732	Y79C	probably damaging	Het
Gabrp	A	G	11: 33,557,017	S198P	probably damaging	Het
Glp1r	A	G	17: 30,936,401	Y454C	probably damaging	Het
Gpr158	A	C	2: 21,827,110	D1007A	probably damaging	Het
Gsdmc4	T	A	15: 63,893,764	D312V	probably benign	Het
Itga5	T	C	15: 103,351,381	Y663C	probably benign	Het
Kif1b	A	T	4: 149,274,956	M108K	probably damaging	Het
Klf11	T	G	12: 24,653,619	S18A	probably damaging	Het
Lmtk2	T	C	5: 144,174,919	V819A	probably benign	Het
Lrba	A	G	3: 86,304,425	M451V	probably damaging	Het
Lrp1b	T	C	2: 41,302,946	D488G	probably damaging	Het
Mark4	T	C	7: 19,429,437	N589S	probably benign	Het
Mis12	T	C	11: 71,025,186	F15S	probably damaging	Het
Nif3l1	A	G	1: 58,450,489	D179G	probably benign	Het
Nlrx1	A	G	9: 44,265,807	W3R	probably damaging	Het
Nup210l	G	A	3: 90,182,508	S1194N	possibly damaging	Het
Olfr1165-ps	A	G	2: 88,101,217	F257L	unknown	Het
Olfr451-ps1	A	T	6: 42,801,202	T154S	probably benign	Het
Park2	A	G	17: 11,067,296		probably null	Het
Pnkd	T	A	1: 74,350,677	L320Q	probably damaging	Het
Rcc2	G	A	4: 140,702,275	C40Y	probably benign	Homo
Rilpl2	C	T	5: 124,469,780	E126K	probably damaging	Het
Rpn2	T	C	2: 157,297,410	I208T	possibly damaging	Het
Skint4	G	T	4: 112,119,899	C170F	probably damaging	Het
Synj1	C	G	16: 90,960,452	V877L	probably damaging	Het
Tcp11	A	T	17: 28,071,830	I106N	possibly damaging	Het
Tg	A	G	15: 66,839,362	Y991C	probably damaging	Het
Trib3	A	G	2: 152,338,419	S285P	probably damaging	Het
Wdr49	A	T	3: 75,429,366	W345R	probably benign	Het
Wnt5a	A	G	14: 28,518,463	Y190C	possibly damaging	Het
Xpo1	A	G	11: 23,294,040	E955G	probably benign	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
R1298:Gsdmc3	UTSW	15	63860281	missense	probably damaging	0.99
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
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
R8978:Gsdmc3	UTSW	15	63859606	missense	probably damaging	1.00
R9104:Gsdmc3	UTSW	15	63859092	critical splice donor site	probably null
R9417:Gsdmc3	UTSW	15	63866814	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- AGCTGAAATCCCCACCTTTGAC -3'
(R):5'- TCAAGCAGGCTGTCAATTGAG -3'

Sequencing Primer
(F):5'- GACATCTTTCTCAGTGTCGTCAG -3'
(R):5'- GGCTGTCAATTGAGACATTTTTAGC -3'

Posted On

2018-07-24