Mutagenetix > Incidental Mutation

Incidental Mutation 'R2088:Gsdmc3'

231615

Institutional Source

Beutler Lab

Gene Symbol

Gsdmc3

Ensembl Gene

ENSMUSG00000055827

Gene Name

gasdermin C3

Synonyms

9930109F21Rik

MMRRC Submission

040093-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R2088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63857724-63878558 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 63860214 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139472 (fasta)

Gene Model

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

AlphaFold

Q8CB12

Predicted Effect

probably null
Transcript: ENSMUST00000089894

SMART Domains

Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827

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

Predicted Effect

probably null
Transcript: ENSMUST00000089894

SMART Domains

Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827

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

Predicted Effect

probably null
Transcript: ENSMUST00000089894

SMART Domains

Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827

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

Predicted Effect

probably null
Transcript: ENSMUST00000089894

SMART Domains

Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827

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

Predicted Effect

probably null
Transcript: ENSMUST00000185526

SMART Domains

Protein: ENSMUSP00000140272
Gene: ENSMUSG00000055827

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

Predicted Effect

probably null
Transcript: ENSMUST00000185526

SMART Domains

Protein: ENSMUSP00000140272
Gene: ENSMUSG00000055827

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

Predicted Effect

probably null
Transcript: ENSMUST00000190682

SMART Domains

Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827

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

Predicted Effect

probably null
Transcript: ENSMUST00000190682

SMART Domains

Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827

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

Predicted Effect

probably null
Transcript: ENSMUST00000190682

SMART Domains

Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827

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

Predicted Effect

probably null
Transcript: ENSMUST00000190682

SMART Domains

Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827

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

Meta Mutation Damage Score

0.8663

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030419C18Rik	T	C	9: 58,499,005	F66S	probably damaging	Het
Ankk1	T	C	9: 49,421,965		probably benign	Het
Ano5	T	A	7: 51,587,706	N759K	possibly damaging	Het
Arhgef10	A	G	8: 14,983,898	T1072A	possibly damaging	Het
BC107364	T	C	3: 96,434,429	T93A	unknown	Het
Canx	C	T	11: 50,310,390	E97K	possibly damaging	Het
Casp8ap2	T	C	4: 32,631,126	L62P	probably damaging	Het
Cbfa2t3	C	T	8: 122,637,986		probably benign	Het
Cmya5	A	T	13: 93,092,812	S1923T	probably damaging	Het
Cntnap1	T	A	11: 101,182,547	I618N	probably damaging	Het
Cox17	C	G	16: 38,347,180	P27R	probably damaging	Het
Ctnna3	A	G	10: 64,873,207	E675G	probably damaging	Het
Cul9	A	G	17: 46,526,649	L990P	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Eif2d	T	C	1: 131,164,727	V374A	probably damaging	Het
Fhdc1	T	C	3: 84,474,726		probably benign	Het
Fryl	T	A	5: 73,065,461	I1926F	probably benign	Het
Galnt4	A	G	10: 99,109,184	D257G	probably damaging	Het
Gatm	A	G	2: 122,598,148	V344A	probably benign	Het
Gli1	T	G	10: 127,331,500	Y628S	probably damaging	Het
Gpr1	A	T	1: 63,183,652		probably null	Het
Hap1	T	C	11: 100,356,002	T26A	probably benign	Het
Helz2	C	T	2: 181,235,102	G1200S	probably benign	Het
Iqgap2	C	T	13: 95,891,663		probably null	Het
Itga3	T	A	11: 95,052,494	I895F	probably benign	Het
Klhl33	A	T	14: 50,892,773	C421*	probably null	Het
Klra2	T	C	6: 131,242,826	T131A	probably damaging	Het
Krt14	T	C	11: 100,204,123	E426G	possibly damaging	Het
Limd2	A	G	11: 106,158,742	F107L	probably damaging	Het
Lipo4	A	T	19: 33,500,069	N318K	possibly damaging	Het
Mab21l2	T	G	3: 86,547,009	D228A	probably damaging	Het
Moxd2	G	A	6: 40,884,967	H224Y	probably damaging	Het
Mpp4	T	C	1: 59,123,465	Y521C	possibly damaging	Het
Msto1	C	T	3: 88,910,990	A317T	probably damaging	Het
Mtmr4	T	C	11: 87,610,967	S559P	probably damaging	Het
Muc4	T	A	16: 32,756,409	H2094Q	unknown	Het
Ndufa11	C	A	17: 56,717,922	T28K	probably damaging	Het
Olfr124	A	G	17: 37,805,795	T217A	probably benign	Het
Olfr1289	G	T	2: 111,484,278	A283S	probably damaging	Het
Orai2	C	A	5: 136,150,756	R155L	probably damaging	Het
Pde4c	A	G	8: 70,749,356	D582G	possibly damaging	Het
Pde4dip	T	C	3: 97,754,433	E609G	probably null	Het
Prune2	A	G	19: 17,119,745	D871G	possibly damaging	Het
Rbpms2	T	A	9: 65,630,839	L4Q	probably damaging	Het
Rhbg	T	C	3: 88,247,458	Y213C	probably damaging	Het
Rplp0	T	A	5: 115,562,503	N243K	possibly damaging	Het
Rtp4	A	T	16: 23,613,213	H165L	possibly damaging	Het
Ryr2	C	A	13: 11,662,229	M3245I	probably benign	Het
Sh2b2	T	A	5: 136,232,114	M83L	possibly damaging	Het
Simc1	T	C	13: 54,541,534	I284T	probably damaging	Het
Skp2	C	A	15: 9,113,698	G376C	probably damaging	Het
Slc46a1	T	C	11: 78,468,645	S368P	possibly damaging	Het
St6galnac1	A	G	11: 116,769,107	S127P	probably benign	Het
Tatdn3	A	G	1: 191,052,876	I192T	possibly damaging	Het
Tmem25	C	A	9: 44,796,086	V239F	possibly damaging	Het
Tprkb	A	C	6: 85,932,940		probably benign	Het
Trappc10	A	G	10: 78,196,334	V1040A	probably benign	Het
Txnrd1	G	A	10: 82,883,910		probably benign	Het
Uhrf1	A	T	17: 56,318,089	K544M	probably damaging	Het
Unc80	T	A	1: 66,590,227	H1294Q	possibly damaging	Het
Uspl1	T	A	5: 149,209,750	I437K	probably damaging	Het
Vmn1r232	A	T	17: 20,913,737	N200K	possibly damaging	Het
Vmn2r19	A	T	6: 123,335,836	I622F	probably damaging	Het
Znfx1	A	G	2: 167,055,810	F398S	probably 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
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
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
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'- GGCCATACATACTCTCTAGCCC -3'
(R):5'- GGAAAATGATACCATCCCAGGG -3'

Sequencing Primer
(F):5'- TAGCCCTCCACATGGTGCATG -3'
(R):5'- AGAATGTCTCTCACTTTCTGATTGG -3'

Posted On

2014-09-18