Mutagenetix > Incidental Mutation

Incidental Mutation 'R4712:Gsdmc'

353327

Institutional Source

Beutler Lab

Gene Symbol

Gsdmc

Ensembl Gene

ENSMUSG00000079025

Gene Name

gasdermin C

Synonyms

Mlze, Gsdmc1

MMRRC Submission

041981-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R4712 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63647820-63680588 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 63651386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 272 (T272N)

Ref Sequence

ENSEMBL: ENSMUSP00000105752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110125] [ENSMUST00000173503]

AlphaFold

Q99NB5

Predicted Effect

probably benign
Transcript: ENSMUST00000110125
AA Change: T272N

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000105752
Gene: ENSMUSG00000079025
AA Change: T272N

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	444	6.2e-170	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173503

SMART Domains

Protein: ENSMUSP00000133683
Gene: ENSMUSG00000079025

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	435	9.6e-157	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	T	15: 83,111,810 (GRCm39)	N324K	probably damaging	Het
Ahcyl1	A	G	3: 107,574,547 (GRCm39)		probably benign	Het
Atrnl1	T	A	19: 57,641,382 (GRCm39)	N343K	probably benign	Het
Batf2	C	A	19: 6,221,357 (GRCm39)	Q56K	probably benign	Het
Cfh	A	T	1: 140,036,274 (GRCm39)	V691D	probably damaging	Het
Chst10	T	C	1: 38,904,922 (GRCm39)	Y257C	probably damaging	Het
Dlg5	A	T	14: 24,228,051 (GRCm39)	L290Q	possibly damaging	Het
Dnah2	T	A	11: 69,407,416 (GRCm39)	T456S	possibly damaging	Het
Dnah6	T	C	6: 73,001,995 (GRCm39)		probably null	Het
Efhb	T	C	17: 53,758,697 (GRCm39)	K313R	probably damaging	Het
Eprs1	T	A	1: 185,160,305 (GRCm39)	N1500K	probably benign	Het
Fbn1	T	C	2: 125,183,236 (GRCm39)	T1748A	probably benign	Het
Gfra2	T	A	14: 71,163,377 (GRCm39)	L87H	probably damaging	Het
Gfral	T	A	9: 76,100,727 (GRCm39)	Y237F	possibly damaging	Het
Gpr137b	T	C	13: 13,533,974 (GRCm39)	N361D	probably benign	Het
Hspe1	T	A	1: 55,128,269 (GRCm39)	S21R	probably benign	Het
Kctd16	G	T	18: 40,390,233 (GRCm39)		probably benign	Het
Kif21a	A	T	15: 90,868,958 (GRCm39)	I483N	probably damaging	Het
Kif4-ps	T	C	12: 101,112,534 (GRCm39)		noncoding transcript	Het
Lpp	T	C	16: 24,580,407 (GRCm39)	V166A	possibly damaging	Het
Lrp2	A	C	2: 69,336,895 (GRCm39)	D1292E	probably damaging	Het
Manba	T	C	3: 135,250,575 (GRCm39)	Y401H	probably damaging	Het
Msh2	T	G	17: 87,985,813 (GRCm39)		probably benign	Het
Myef2	A	T	2: 124,930,757 (GRCm39)		probably benign	Het
Ncor1	T	A	11: 62,235,660 (GRCm39)	Q598L	probably damaging	Het
Obox3	A	G	7: 15,360,764 (GRCm39)	V125A	probably benign	Het
Or1n1	A	T	2: 36,750,381 (GRCm39)		probably null	Het
Or2b4	T	A	17: 38,116,591 (GRCm39)	L185*	probably null	Het
Or9k7	G	A	10: 130,046,291 (GRCm39)	T236I	possibly damaging	Het
Pcdh9	C	A	14: 94,126,067 (GRCm39)	L34F	probably damaging	Het
Pcdha3	A	T	18: 37,079,560 (GRCm39)	I101F	probably damaging	Het
Pced1b	A	G	15: 97,282,675 (GRCm39)	E238G	probably benign	Het
Pla2r1	A	T	2: 60,258,994 (GRCm39)	N1131K	probably damaging	Het
Prmt1	A	T	7: 44,631,060 (GRCm39)	S99R	probably damaging	Het
Qng1	G	A	13: 58,529,617 (GRCm39)	R332C	probably benign	Het
Rbp3	T	C	14: 33,682,615 (GRCm39)	S1116P	probably damaging	Het
Rhobtb2	T	C	14: 70,037,160 (GRCm39)	D88G	probably damaging	Het
Rngtt	A	G	4: 33,379,394 (GRCm39)	E432G	probably benign	Het
Sh3rf1	A	G	8: 61,814,793 (GRCm39)	T451A	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Siva1	T	A	12: 112,613,336 (GRCm39)	D61E	probably benign	Het
Skor1	A	C	9: 63,046,855 (GRCm39)		probably null	Het
Slc20a1	A	G	2: 129,041,611 (GRCm39)		probably benign	Het
Slc2a7	A	G	4: 150,252,926 (GRCm39)	E522G	probably benign	Het
Tmprss7	A	T	16: 45,511,123 (GRCm39)	I85N	probably damaging	Het
Tpx2	T	A	2: 152,726,958 (GRCm39)	D408E	probably damaging	Het
Ulk4	A	T	9: 121,073,436 (GRCm39)	I551N	probably benign	Het
Zfat	A	T	15: 67,982,324 (GRCm39)		probably null	Het
Zfp101	C	A	17: 33,613,457 (GRCm39)		probably null	Het

Other mutations in Gsdmc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Gsdmc	APN	15	63,676,270 (GRCm39)	missense	probably benign	0.41
IGL00791:Gsdmc	APN	15	63,676,284 (GRCm39)	missense	possibly damaging	0.85
IGL01889:Gsdmc	APN	15	63,651,852 (GRCm39)	missense	possibly damaging	0.89
IGL01917:Gsdmc	APN	15	63,650,434 (GRCm39)	missense	probably benign
IGL01948:Gsdmc	APN	15	63,650,430 (GRCm39)	missense	probably damaging	1.00
IGL02391:Gsdmc	APN	15	63,675,428 (GRCm39)	missense	probably damaging	0.99
IGL02479:Gsdmc	APN	15	63,649,824 (GRCm39)	missense	possibly damaging	0.87
IGL02551:Gsdmc	APN	15	63,673,782 (GRCm39)	missense	probably benign	0.00
R0115:Gsdmc	UTSW	15	63,675,486 (GRCm39)	missense	probably damaging	0.99
R1523:Gsdmc	UTSW	15	63,675,479 (GRCm39)	missense	probably damaging	0.99
R1655:Gsdmc	UTSW	15	63,651,892 (GRCm39)	missense	probably benign	0.42
R1990:Gsdmc	UTSW	15	63,673,748 (GRCm39)	missense	probably benign	0.12
R1991:Gsdmc	UTSW	15	63,673,748 (GRCm39)	missense	probably benign	0.12
R2267:Gsdmc	UTSW	15	63,648,647 (GRCm39)	missense	probably benign	0.12
R2882:Gsdmc	UTSW	15	63,651,644 (GRCm39)	missense	probably benign	0.24
R2943:Gsdmc	UTSW	15	63,675,501 (GRCm39)	missense	possibly damaging	0.91
R4110:Gsdmc	UTSW	15	63,651,876 (GRCm39)	missense	probably benign	0.08
R4963:Gsdmc	UTSW	15	63,676,229 (GRCm39)	critical splice donor site	probably null
R4997:Gsdmc	UTSW	15	63,648,629 (GRCm39)	missense	probably damaging	1.00
R5032:Gsdmc	UTSW	15	63,673,882 (GRCm39)	missense	possibly damaging	0.63
R5276:Gsdmc	UTSW	15	63,673,806 (GRCm39)	missense	probably benign	0.25
R5346:Gsdmc	UTSW	15	63,648,735 (GRCm39)	missense	probably damaging	1.00
R5963:Gsdmc	UTSW	15	63,651,965 (GRCm39)	splice site	probably null
R5965:Gsdmc	UTSW	15	63,676,447 (GRCm39)	critical splice acceptor site	probably null
R6872:Gsdmc	UTSW	15	63,650,556 (GRCm39)	missense	possibly damaging	0.79
R7035:Gsdmc	UTSW	15	63,650,569 (GRCm39)	splice site	probably null
R7408:Gsdmc	UTSW	15	63,676,315 (GRCm39)	missense	probably benign
R7719:Gsdmc	UTSW	15	63,650,813 (GRCm39)	splice site	probably null
R7862:Gsdmc	UTSW	15	63,649,845 (GRCm39)	missense	possibly damaging	0.52
R8528:Gsdmc	UTSW	15	63,649,189 (GRCm39)	splice site	probably null
R8697:Gsdmc	UTSW	15	63,651,883 (GRCm39)	missense	probably benign	0.12
R9069:Gsdmc	UTSW	15	63,649,902 (GRCm39)	missense	probably benign	0.12
R9253:Gsdmc	UTSW	15	63,676,407 (GRCm39)	missense	probably damaging	0.99
R9312:Gsdmc	UTSW	15	63,649,806 (GRCm39)	missense	probably damaging	0.98
R9385:Gsdmc	UTSW	15	63,675,486 (GRCm39)	missense	possibly damaging	0.89
R9476:Gsdmc	UTSW	15	63,650,551 (GRCm39)	missense	probably benign	0.03
R9511:Gsdmc	UTSW	15	63,649,897 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- TGAACATCAGTGCACACAATTG -3'
(R):5'- GTGATGCTACTTGGCTCTGC -3'

Sequencing Primer
(F):5'- CACAATTGTGCATGTGTGAGTTGAAC -3'
(R):5'- GCCCTAGCCCTGATTCTGG -3'

Posted On

2015-10-21