Mutagenetix > Incidental Mutation

Incidental Mutation 'R7566:Gsdmc3'

585467

Institutional Source

Beutler Lab

Gene Symbol

Gsdmc3

Ensembl Gene

ENSMUSG00000055827

Gene Name

gasdermin C3

Synonyms

9930109F21Rik

MMRRC Submission

045628-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R7566 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63729573-63750407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63733510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 227 (K227R)

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: K227R

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
AA Change: K227R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185526
AA Change: K227R

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140272
Gene: ENSMUSG00000055827
AA Change: K227R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190682
AA Change: K227R

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
AA Change: K227R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	G	1: 12,021,252 (GRCm39)	S420R	probably damaging	Het
Acat2	C	T	17: 13,166,346 (GRCm39)	D219N	probably damaging	Het
Anapc10	G	A	8: 80,446,308 (GRCm39)	R46Q	possibly damaging	Het
Ankub1	G	A	3: 57,573,039 (GRCm39)	R228*	probably null	Het
Arhgap21	T	C	2: 20,917,102 (GRCm39)	N91S	probably benign	Het
Arhgap32	T	A	9: 32,162,018 (GRCm39)	V323D	probably benign	Het
Bcas1	C	T	2: 170,212,369 (GRCm39)		probably null	Het
Cd109	C	T	9: 78,588,119 (GRCm39)	P716S	probably damaging	Het
Chd4	C	T	6: 125,078,866 (GRCm39)	P267L	possibly damaging	Het
Cpne7	G	T	8: 123,860,552 (GRCm39)	V502F	probably damaging	Het
Cracd	G	A	5: 77,014,122 (GRCm39)		probably null	Het
Dlgap4	C	T	2: 156,604,657 (GRCm39)	A921V	probably benign	Het
Faap24	G	T	7: 35,092,465 (GRCm39)	R151S	probably benign	Het
Fam98a	A	G	17: 75,854,657 (GRCm39)	S51P	probably damaging	Het
Fbxl8	A	G	8: 105,994,938 (GRCm39)	D150G	possibly damaging	Het
Fut10	A	G	8: 31,749,950 (GRCm39)	K412R	probably benign	Het
G0s2	T	C	1: 192,955,076 (GRCm39)	S3G	probably benign	Het
Gm1527	T	C	3: 28,974,767 (GRCm39)	Y527H	probably benign	Het
Gtf2ird2	A	G	5: 134,242,848 (GRCm39)	Y354C	probably damaging	Het
Hmcn2	T	A	2: 31,344,869 (GRCm39)	N4685K	probably damaging	Het
Itgad	A	T	7: 127,791,279 (GRCm39)	Y717F	probably benign	Het
Kcnh5	C	T	12: 75,161,166 (GRCm39)	W247*	probably null	Het
Kcnt1	C	A	2: 25,806,048 (GRCm39)	S1212R	probably benign	Het
Kirrel1	A	G	3: 86,995,791 (GRCm39)	V381A	probably damaging	Het
Loxl1	T	A	9: 58,219,481 (GRCm39)	Q230L	probably damaging	Het
Magi1	T	C	6: 93,655,308 (GRCm39)	E1446G	probably benign	Het
Man1a	A	G	10: 53,795,330 (GRCm39)	V550A	possibly damaging	Het
Mgat4d	T	C	8: 84,084,652 (GRCm39)	S132P	probably damaging	Het
Muc16	T	A	9: 18,549,925 (GRCm39)	H5456L	probably benign	Het
Nhsl1	A	G	10: 18,391,867 (GRCm39)	K207R	probably damaging	Het
Nlrp4a	A	C	7: 26,148,670 (GRCm39)		probably null	Het
Nr6a1	T	C	2: 38,621,085 (GRCm39)	M407V	possibly damaging	Het
Or13c7b	A	G	4: 43,820,711 (GRCm39)	S217P	probably damaging	Het
Or2b2b	T	G	13: 21,858,737 (GRCm39)	I126L	possibly damaging	Het
Or2z2	G	T	11: 58,346,489 (GRCm39)	F95L	probably benign	Het
Or6c206	T	C	10: 129,097,469 (GRCm39)	I213T	probably damaging	Het
Ovgp1	A	G	3: 105,881,626 (GRCm39)		probably benign	Het
Ovol3	G	T	7: 29,933,791 (GRCm39)	F110L	probably damaging	Het
Pcsk5	T	C	19: 17,549,821 (GRCm39)	T724A	probably benign	Het
Phtf2	G	T	5: 20,970,799 (GRCm39)	T653N	probably damaging	Het
Plch1	A	T	3: 63,688,663 (GRCm39)		probably null	Het
Prkce	A	T	17: 86,800,757 (GRCm39)	E391V	probably benign	Het
Prob1	A	G	18: 35,788,038 (GRCm39)	V72A	probably benign	Het
Prrc2b	C	A	2: 32,084,402 (GRCm39)	P289Q	probably benign	Het
Ptbp3	A	T	4: 59,514,280 (GRCm39)	N114K	probably benign	Het
Rho	T	A	6: 115,909,135 (GRCm39)	L57H	probably damaging	Het
Slc44a5	A	C	3: 153,975,626 (GRCm39)	D679A	probably damaging	Het
Slit2	A	T	5: 48,407,239 (GRCm39)	D898V	probably damaging	Het
Spag16	C	T	1: 69,909,487 (GRCm39)	R195C	probably damaging	Het
Tmprss11a	T	G	5: 86,591,993 (GRCm39)	D60A	possibly damaging	Het
Ttn	T	A	2: 76,565,293 (GRCm39)	R28311S	probably damaging	Het
Wfikkn1	T	C	17: 26,097,352 (GRCm39)	D324G	probably damaging	Het
Zan	A	C	5: 137,410,845 (GRCm39)		probably null	Het
Zfp945	A	T	17: 23,070,727 (GRCm39)	C412S	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
R7717:Gsdmc3	UTSW	15	63,741,061 (GRCm39)	missense	probably damaging	1.00
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'- GTTCGATGTCATTTATCCACAAACC -3'
(R):5'- AATGCAGGTTTCAGGGCAC -3'

Sequencing Primer
(F):5'- AAGAGATAATATGTTGGCCCCC -3'
(R):5'- TGTGGGAAGAACTCTAGC -3'

Posted On

2019-10-17