Mutagenetix > Incidental Mutation

Incidental Mutation 'R7620:Gsdma'

589108

Institutional Source

Beutler Lab

Gene Symbol

Gsdma

Ensembl Gene

ENSMUSG00000017204

Gene Name

gasdermin A

Synonyms

Gsdm1, H312E, Gsdm, Gsdma1

MMRRC Submission

045687-MU

Accession Numbers

Essential gene?

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

Stock #

R7620 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98555177-98568534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98557429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 123 (T123A)

Ref Sequence

ENSEMBL: ENSMUSP00000017348 (fasta)

Gene Model

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

AlphaFold

Q9EST1

Predicted Effect

probably benign
Transcript: ENSMUST00000017348
AA Change: T123A

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000017348
Gene: ENSMUSG00000017204
AA Change: T123A

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

Coding Region Coverage

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

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	T	C	18: 80,173,702 (GRCm39)	T236A	probably damaging	Het
Alkbh7	A	G	17: 57,304,551 (GRCm39)	Y63C	probably damaging	Het
Calhm6	A	T	10: 34,003,614 (GRCm39)	C98S	probably damaging	Het
Ccr9	T	A	9: 123,608,911 (GRCm39)	C198S	probably damaging	Het
Chil3	T	A	3: 106,067,751 (GRCm39)	D138V	probably damaging	Het
Cntd1	A	T	11: 101,174,240 (GRCm39)	E66D	probably benign	Het
Cpz	A	T	5: 35,669,194 (GRCm39)	N312K	possibly damaging	Het
Crat	A	G	2: 30,298,090 (GRCm39)	I203T	probably damaging	Het
Cyp2j13	T	A	4: 95,944,899 (GRCm39)	H410L	probably benign	Het
Cyp39a1	G	A	17: 44,036,544 (GRCm39)		probably null	Het
Dnah1	A	T	14: 31,025,863 (GRCm39)	I828N	possibly damaging	Het
Dnah7b	A	G	1: 46,307,794 (GRCm39)	D3036G	probably damaging	Het
Dnpep	A	G	1: 75,290,092 (GRCm39)	V295A	probably benign	Het
Efcab3	T	A	11: 104,722,969 (GRCm39)	S1942T	possibly damaging	Het
Fam111a	A	G	19: 12,565,301 (GRCm39)	D394G	possibly damaging	Het
Fat1	A	G	8: 45,462,887 (GRCm39)	K1235E	possibly damaging	Het
Gabre	C	A	X: 71,313,865 (GRCm39)	Q311H	unknown	Het
Garem1	T	C	18: 21,262,898 (GRCm39)	S639G	probably benign	Het
Iqcb1	A	G	16: 36,676,772 (GRCm39)	N369S	probably benign	Het
Lepr	G	T	4: 101,609,270 (GRCm39)	V286F	probably benign	Het
Lgsn	T	C	1: 31,242,461 (GRCm39)	M181T	probably benign	Het
Mapk15	T	G	15: 75,870,697 (GRCm39)	S512A	probably benign	Het
Mcm3ap	A	G	10: 76,306,267 (GRCm39)	T127A	probably benign	Het
Msto1	A	G	3: 88,818,614 (GRCm39)	F315L	possibly damaging	Het
Myo5a	T	A	9: 75,071,418 (GRCm39)	D673E	probably benign	Het
Nup88	G	C	11: 70,860,605 (GRCm39)	P58R	probably benign	Het
Or4x12-ps1	A	C	2: 89,915,977 (GRCm39)	I276R	probably damaging	Het
Or52e15	C	A	7: 104,645,962 (GRCm39)	V50L	possibly damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Ppp1r18	T	C	17: 36,178,191 (GRCm39)	V22A	probably benign	Het
Psme1	T	A	14: 55,817,797 (GRCm39)	C101*	probably null	Het
Rapgef4	G	T	2: 72,059,422 (GRCm39)	C743F	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnmt	T	A	18: 68,447,105 (GRCm39)	Y330N	probably damaging	Het
Skint10	T	A	4: 112,573,014 (GRCm39)	M261L	possibly damaging	Het
Slc35b1	T	C	11: 95,278,691 (GRCm39)	Y192H	probably damaging	Het
Socs3	A	G	11: 117,858,396 (GRCm39)	Y221H	probably damaging	Het
Spink12	A	G	18: 44,237,684 (GRCm39)		probably benign	Het
Sspo	T	C	6: 48,444,020 (GRCm39)		probably null	Het
Trp73	G	A	4: 154,143,714 (GRCm39)	Q551*	probably null	Het
Vmn2r45	C	T	7: 8,486,222 (GRCm39)	W355*	probably null	Het
Wdr35	A	G	12: 9,066,042 (GRCm39)	I678V	probably benign	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
R3404:Gsdma	UTSW	11	98,563,964 (GRCm39)	splice site	probably benign
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
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'- TCACCAAGCCCAGAGTTCTC -3'
(R):5'- GAAGACAACTGAGGCTCCTC -3'

Sequencing Primer
(F):5'- GGTACCTCTCAGCTCAGCTAC -3'
(R):5'- TGAGGCTCCTCACCACTGTG -3'

Posted On

2019-10-24