Mutagenetix > Incidental Mutation

Incidental Mutation 'R3404:Gsdma'

259289

Institutional Source

Beutler Lab

Gene Symbol

Gsdma

Ensembl Gene

ENSMUSG00000017204

Gene Name

gasdermin A

Synonyms

Gsdm1, H312E, Gsdm, Gsdma1

MMRRC Submission

040622-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R3404 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98555177-98568534 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 98563964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000017348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017348]

AlphaFold

Q9EST1

Predicted Effect

probably benign
Transcript: ENSMUST00000017348

SMART Domains

Protein: ENSMUSP00000017348
Gene: ENSMUSG00000017204

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	3	421	2.2e-147	PFAM
low complexity region	429	443	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 93.8%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	C	T	15: 64,571,449 (GRCm39)	V1065M	probably damaging	Het
Alg12	A	T	15: 88,698,782 (GRCm39)	I181N	probably damaging	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankar	T	A	1: 72,682,252 (GRCm39)	K1220*	probably null	Het
Apc	A	G	18: 34,446,655 (GRCm39)	T1150A	probably benign	Het
Baz1a	C	T	12: 54,963,774 (GRCm39)	S770N	probably benign	Het
Bcorl1	T	A	X: 47,459,884 (GRCm39)	M1139K	probably benign	Het
Bdkrb2	T	C	12: 105,558,755 (GRCm39)	V332A	possibly damaging	Het
Bnc2	G	T	4: 84,464,478 (GRCm39)	N20K	probably damaging	Het
Brip1	T	A	11: 86,034,089 (GRCm39)	N544I	possibly damaging	Het
Cdc27	T	C	11: 104,398,026 (GRCm39)	E778G	probably damaging	Het
Cyp2c66	T	C	19: 39,151,771 (GRCm39)	V162A	probably benign	Het
Dnai1	A	T	4: 41,603,246 (GRCm39)	E176D	probably benign	Het
Dnhd1	C	T	7: 105,343,968 (GRCm39)	Q1771*	probably null	Het
Fezf1	A	T	6: 23,247,283 (GRCm39)	V264D	probably benign	Het
Hemk1	G	A	9: 107,214,415 (GRCm39)	Q6*	probably null	Het
Hspa13	C	A	16: 75,554,914 (GRCm39)	E391*	probably null	Het
Ighv1-53	T	A	12: 115,122,058 (GRCm39)	T106S	possibly damaging	Het
Immp2l	T	A	12: 41,160,846 (GRCm39)	L48*	probably null	Het
Itgam	A	G	7: 127,669,875 (GRCm39)		probably null	Het
Ltn1	A	T	16: 87,213,103 (GRCm39)	V486D	probably damaging	Het
Mki67	T	A	7: 135,309,204 (GRCm39)	T416S	probably benign	Het
Mycbp2	C	A	14: 103,437,550 (GRCm39)	C2104F	probably damaging	Het
Nlrp2	T	C	7: 5,322,286 (GRCm39)	D49G	probably benign	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pcdh17	T	A	14: 84,684,062 (GRCm39)	D176E	probably damaging	Het
Prkd1	C	T	12: 50,695,687 (GRCm39)	A24T	unknown	Het
Pzp	G	A	6: 128,490,769 (GRCm39)	T398M	probably damaging	Het
Rbfox3	T	A	11: 118,387,283 (GRCm39)	Q277L	possibly damaging	Het
Rnf146	A	G	10: 29,223,424 (GRCm39)	V154A	possibly damaging	Het
Senp7	T	A	16: 56,008,640 (GRCm39)	W1007R	probably damaging	Het
Snx31	C	T	15: 36,525,799 (GRCm39)	C300Y	probably benign	Het
Ticrr	G	C	7: 79,344,539 (GRCm39)	S1468T	probably benign	Het
Trim33	A	G	3: 103,228,875 (GRCm39)	E327G	probably damaging	Het
Ubap2l	T	C	3: 89,946,157 (GRCm39)	E149G	probably damaging	Het
Ube4a	A	G	9: 44,840,985 (GRCm39)	S979P	probably damaging	Het
Uvssa	G	T	5: 33,547,162 (GRCm39)	G243C	probably damaging	Het
Vps13b	T	C	15: 35,926,200 (GRCm39)	S3834P	probably damaging	Het
Zfp609	A	T	9: 65,608,454 (GRCm39)	M1142K	possibly damaging	Het
Zfp729b	T	G	13: 67,739,283 (GRCm39)	H994P	probably damaging	Het

Other mutations in Gsdma

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01650:Gsdma	APN	11	98,564,513 (GRCm39)	missense	probably damaging	0.98
IGL02573:Gsdma	APN	11	98,561,577 (GRCm39)	splice site	probably benign
IGL03005:Gsdma	APN	11	98,567,085 (GRCm39)	missense	probably damaging	0.97
R0143:Gsdma	UTSW	11	98,557,080 (GRCm39)	missense	probably damaging	0.96
R1337:Gsdma	UTSW	11	98,560,533 (GRCm39)	nonsense	probably null
R1533:Gsdma	UTSW	11	98,567,210 (GRCm39)	missense	unknown
R1605:Gsdma	UTSW	11	98,557,319 (GRCm39)	missense	probably damaging	0.98
R1929:Gsdma	UTSW	11	98,562,193 (GRCm39)	critical splice donor site	probably null
R1998:Gsdma	UTSW	11	98,564,520 (GRCm39)	missense	probably damaging	0.99
R2043:Gsdma	UTSW	11	98,557,046 (GRCm39)	missense	possibly damaging	0.94
R2114:Gsdma	UTSW	11	98,563,838 (GRCm39)	missense	probably damaging	1.00
R3405:Gsdma	UTSW	11	98,563,964 (GRCm39)	splice site	probably benign
R3406:Gsdma	UTSW	11	98,563,964 (GRCm39)	splice site	probably benign
R3711:Gsdma	UTSW	11	98,557,045 (GRCm39)	nonsense	probably null
R3764:Gsdma	UTSW	11	98,561,593 (GRCm39)	missense	probably damaging	0.98
R4656:Gsdma	UTSW	11	98,563,907 (GRCm39)	missense	probably damaging	1.00
R5384:Gsdma	UTSW	11	98,557,275 (GRCm39)	critical splice acceptor site	probably null
R5943:Gsdma	UTSW	11	98,563,852 (GRCm39)	missense	probably benign	0.30
R7620:Gsdma	UTSW	11	98,557,429 (GRCm39)	missense	probably benign	0.06
R8340:Gsdma	UTSW	11	98,557,421 (GRCm39)	missense	probably benign	0.07
R9349:Gsdma	UTSW	11	98,566,771 (GRCm39)	missense	probably benign	0.36
R9736:Gsdma	UTSW	11	98,567,169 (GRCm39)	missense	probably damaging	1.00
X0017:Gsdma	UTSW	11	98,557,096 (GRCm39)	critical splice donor site	probably benign
Z1176:Gsdma	UTSW	11	98,560,585 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTACAGAACGTTCAGGG -3'
(R):5'- TCTTCTTTCAGGGATAAAAGGGG -3'

Sequencing Primer
(F):5'- CATCAGCTGAAAGGGTGCC -3'
(R):5'- GGCAGTGGTAGTCCAGCAG -3'

Posted On

2015-01-23