Mutagenetix > Incidental Mutation

Incidental Mutation 'R7717:Gsdmc3'

594997

Institutional Source

Beutler Lab

Gene Symbol

Gsdmc3

Ensembl Gene

ENSMUSG00000055827

Gene Name

gasdermin C3

Synonyms

9930109F21Rik

Accession Numbers

Essential gene?

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

Stock #

R7717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63729573-63750407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63741061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 29 (D29V)

Ref Sequence

ENSEMBL: ENSMUSP00000139472 (fasta)

Gene Model

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

AlphaFold

Q8CB12

Predicted Effect

probably damaging
Transcript: ENSMUST00000089894
AA Change: D29V

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

SMART Domains

Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
AA Change: D29V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000185526
AA Change: D29V

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

SMART Domains

Protein: ENSMUSP00000140272
Gene: ENSMUSG00000055827
AA Change: D29V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000190682
AA Change: D29V

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

SMART Domains

Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
AA Change: D29V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	T	C	17: 43,761,644 (GRCm39)	L1113P	probably damaging	Het
Aldh3b3	T	C	19: 4,013,970 (GRCm39)	L57P	probably damaging	Het
Asb15	A	G	6: 24,559,251 (GRCm39)	D132G	probably benign	Het
Cep290	C	T	10: 100,328,543 (GRCm39)	R111W	probably benign	Het
Cfap44	A	G	16: 44,250,298 (GRCm39)	D792G	probably damaging	Het
Col20a1	C	T	2: 180,649,408 (GRCm39)	R1029W	probably damaging	Het
Csf3r	A	G	4: 125,931,403 (GRCm39)	Y462C	probably damaging	Het
Cthrc1	T	C	15: 38,940,511 (GRCm39)	V38A	probably benign	Het
Cxcr2	T	C	1: 74,197,998 (GRCm39)	V164A	probably benign	Het
Efr3b	A	G	12: 4,034,574 (GRCm39)	S199P	probably damaging	Het
Elavl4	A	G	4: 110,063,663 (GRCm39)	C342R	probably damaging	Het
Gemin5	A	T	11: 58,042,356 (GRCm39)		probably null	Het
Gm14190	A	T	11: 99,581,476 (GRCm39)	C31S	unknown	Het
Golt1b	T	A	6: 142,339,769 (GRCm39)	V78D	probably damaging	Het
Itih1	T	A	14: 30,653,142 (GRCm39)	D766V	probably damaging	Het
Larp1b	C	T	3: 40,926,879 (GRCm39)	S251F	probably damaging	Het
Lrp8	A	G	4: 107,691,940 (GRCm39)	T115A	probably benign	Het
Lrrc37a	A	G	11: 103,395,126 (GRCm39)	S100P	probably benign	Het
Lss	T	C	10: 76,381,286 (GRCm39)	V424A	possibly damaging	Het
Ltbp1	T	C	17: 75,597,073 (GRCm39)	V568A	possibly damaging	Het
Myo10	A	T	15: 25,732,056 (GRCm39)	T311S	probably benign	Het
Nsd3	T	C	8: 26,172,578 (GRCm39)	V779A	probably benign	Het
Or10ak12	A	T	4: 118,666,130 (GRCm39)	S310R	probably damaging	Het
Or11h23	T	A	14: 50,948,219 (GRCm39)	L144Q	probably damaging	Het
Or2ag16	A	G	7: 106,351,843 (GRCm39)	W251R	possibly damaging	Het
Or2n1e	C	A	17: 38,586,471 (GRCm39)	Q270K	probably damaging	Het
Or51v8	T	C	7: 103,320,152 (GRCm39)	T29A	probably benign	Het
Or5b21	A	T	19: 12,839,159 (GRCm39)	I7F	probably benign	Het
Pak1	T	A	7: 97,535,555 (GRCm39)	D215E	probably benign	Het
Pde7b	A	G	10: 20,282,937 (GRCm39)	F355L	probably benign	Het
Phaf1	C	A	8: 105,978,236 (GRCm39)	Q397K	probably benign	Het
Pi4ka	A	G	16: 17,194,787 (GRCm39)	S204P		Het
Pirb	T	C	7: 3,720,782 (GRCm39)	K239E	not run	Het
Pirb	C	T	7: 3,720,800 (GRCm39)	G233R	not run	Het
Pnp	G	A	14: 51,188,460 (GRCm39)	M211I	probably benign	Het
Pot1a	A	T	6: 25,758,822 (GRCm39)	L319Q	probably benign	Het
Rspry1	G	T	8: 95,349,750 (GRCm39)	C46F	probably damaging	Het
Sanbr	A	C	11: 23,556,757 (GRCm39)	C408G	probably benign	Het
Sec11c	C	T	18: 65,945,783 (GRCm39)	T82M	possibly damaging	Het
Secisbp2	T	C	13: 51,827,134 (GRCm39)	V414A	probably benign	Het
Tenm2	A	G	11: 36,755,762 (GRCm39)	F79L	probably damaging	Het
Vmn2r2	A	G	3: 64,042,019 (GRCm39)	V232A	possibly damaging	Het
Zbtb17	T	C	4: 141,193,394 (GRCm39)	S593P	probably damaging	Het
Zfp143	T	G	7: 109,685,427 (GRCm39)	C419G	possibly damaging	Het
Zfp804b	T	C	5: 6,821,293 (GRCm39)	N590S	possibly damaging	Het

Other mutations in Gsdmc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Gsdmc3	APN	15	63,731,526 (GRCm39)	missense	probably benign	0.05
IGL01125:Gsdmc3	APN	15	63,733,306 (GRCm39)	missense	probably benign	0.09
R0490:Gsdmc3	UTSW	15	63,732,099 (GRCm39)	missense	possibly damaging	0.88
R0620:Gsdmc3	UTSW	15	63,731,542 (GRCm39)	missense	probably damaging	1.00
R0932:Gsdmc3	UTSW	15	63,730,400 (GRCm39)	critical splice acceptor site	probably null
R1298:Gsdmc3	UTSW	15	63,732,130 (GRCm39)	missense	probably damaging	0.99
R1378:Gsdmc3	UTSW	15	63,731,435 (GRCm39)	splice site	probably benign
R1815:Gsdmc3	UTSW	15	63,740,965 (GRCm39)	missense	probably damaging	1.00
R1962:Gsdmc3	UTSW	15	63,730,315 (GRCm39)	missense	probably damaging	1.00
R1965:Gsdmc3	UTSW	15	63,730,296 (GRCm39)	missense	probably damaging	1.00
R2088:Gsdmc3	UTSW	15	63,732,063 (GRCm39)	critical splice donor site	probably null
R2090:Gsdmc3	UTSW	15	63,738,631 (GRCm39)	missense	probably benign	0.07
R2126:Gsdmc3	UTSW	15	63,730,383 (GRCm39)	nonsense	probably null
R2276:Gsdmc3	UTSW	15	63,732,105 (GRCm39)	missense	probably benign	0.09
R4412:Gsdmc3	UTSW	15	63,738,645 (GRCm39)	missense	probably benign	0.18
R4913:Gsdmc3	UTSW	15	63,730,122 (GRCm39)	makesense	probably null
R5241:Gsdmc3	UTSW	15	63,735,995 (GRCm39)	missense	possibly damaging	0.96
R6016:Gsdmc3	UTSW	15	63,740,261 (GRCm39)	missense	probably benign	0.07
R6026:Gsdmc3	UTSW	15	63,738,600 (GRCm39)	missense	probably damaging	1.00
R6291:Gsdmc3	UTSW	15	63,732,090 (GRCm39)	missense	probably benign	0.00
R6698:Gsdmc3	UTSW	15	63,732,120 (GRCm39)	missense	possibly damaging	0.94
R7316:Gsdmc3	UTSW	15	63,730,251 (GRCm39)	missense	possibly damaging	0.81
R7566:Gsdmc3	UTSW	15	63,733,510 (GRCm39)	missense	possibly damaging	0.77
R8978:Gsdmc3	UTSW	15	63,731,455 (GRCm39)	missense	probably damaging	1.00
R9104:Gsdmc3	UTSW	15	63,730,941 (GRCm39)	critical splice donor site	probably null
R9417:Gsdmc3	UTSW	15	63,738,663 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TGAGCACCTCAAGGAACCTG -3'
(R):5'- GGAGTTCTCTCACACATCGC -3'

Sequencing Primer
(F):5'- TGGGAAGCTGCACCATTG -3'
(R):5'- ACACATCGCTGGCTTATGAC -3'

Posted On

2019-11-12