Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02573:Gsdma'

299122

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gsdma

Ensembl Gene

ENSMUSG00000017204

Gene Name

gasdermin A

Synonyms

Gsdm1, H312E, Gsdm, Gsdma1

Accession Numbers

Essential gene?

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

Stock #

IGL02573

Quality Score

Status

Chromosome

Chromosomal Location

98555177-98568534 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 98561577 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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl3	T	A	4: 98,926,171 (GRCm39)	W434R	probably damaging	Het
Atp7b	T	C	8: 22,512,486 (GRCm39)	Q344R	probably benign	Het
B4galt5	C	T	2: 167,146,982 (GRCm39)	R284Q	probably benign	Het
Ccdc80	T	G	16: 44,915,952 (GRCm39)	V236G	probably damaging	Het
Chd8	T	C	14: 52,457,191 (GRCm39)	I926V	possibly damaging	Het
Dgkz	A	C	2: 91,764,542 (GRCm39)	S1030R	probably damaging	Het
Disp3	T	A	4: 148,355,906 (GRCm39)	D318V	probably damaging	Het
Dnaaf10	T	C	11: 17,162,136 (GRCm39)	L58P	possibly damaging	Het
Ehd1	T	C	19: 6,344,330 (GRCm39)	S197P	probably damaging	Het
Emp1	A	G	6: 135,356,945 (GRCm39)	K42R	probably benign	Het
Garin4	G	A	1: 190,896,067 (GRCm39)	T192I	probably damaging	Het
Gm4922	T	A	10: 18,659,423 (GRCm39)	D433V	probably benign	Het
Hspbp1	G	T	7: 4,680,852 (GRCm39)	A208E	probably damaging	Het
Il5ra	A	T	6: 106,693,712 (GRCm39)	V342E	possibly damaging	Het
Kif13b	T	C	14: 65,040,880 (GRCm39)	F1660S	probably damaging	Het
Lvrn	A	G	18: 47,010,016 (GRCm39)	E388G	probably damaging	Het
Mettl17	G	A	14: 52,125,504 (GRCm39)		probably null	Het
Mgat5b	T	C	11: 116,868,540 (GRCm39)	Y488H	probably benign	Het
Mtr	A	T	13: 12,214,013 (GRCm39)	D886E	possibly damaging	Het
Naip6	A	T	13: 100,435,979 (GRCm39)	L848*	probably null	Het
Nav3	A	G	10: 109,702,835 (GRCm39)	S233P	probably benign	Het
Nme9	A	T	9: 99,352,908 (GRCm39)	D286V	probably benign	Het
Nod1	C	A	6: 54,920,930 (GRCm39)	A463S	probably benign	Het
Nthl1	A	G	17: 24,852,949 (GRCm39)	K51R	probably benign	Het
Or1n2	A	G	2: 36,797,566 (GRCm39)	I203V	probably damaging	Het
Or6k14	T	A	1: 173,927,696 (GRCm39)	V224D	possibly damaging	Het
Pcnx2	G	A	8: 126,582,012 (GRCm39)	A908V	probably benign	Het
Pdcd6	A	G	13: 74,452,098 (GRCm39)	Y181H	probably damaging	Het
Pde10a	A	C	17: 9,180,722 (GRCm39)	I719L	probably benign	Het
Pikfyve	T	A	1: 65,270,014 (GRCm39)		probably null	Het
Plekha5	G	T	6: 140,527,742 (GRCm39)	A396S	probably damaging	Het
Ppfia2	A	G	10: 106,664,789 (GRCm39)	T342A	probably damaging	Het
Rbck1	A	G	2: 152,164,087 (GRCm39)	I339T	possibly damaging	Het
Rbms2	A	T	10: 127,979,309 (GRCm39)	I140N	probably damaging	Het
Scn1b	A	T	7: 30,822,546 (GRCm39)	L78Q	possibly damaging	Het
Slc12a6	T	C	2: 112,188,986 (GRCm39)		probably null	Het
Slc25a30	A	T	14: 76,007,108 (GRCm39)		probably benign	Het
Slc30a7	C	T	3: 115,783,796 (GRCm39)		probably benign	Het
Slc5a10	C	A	11: 61,563,898 (GRCm39)	R546L	possibly damaging	Het
Stxbp4	T	C	11: 90,431,095 (GRCm39)	D405G	probably damaging	Het
Tm4sf19	A	C	16: 32,226,678 (GRCm39)	T156P	possibly damaging	Het
Tmem37	A	T	1: 119,995,719 (GRCm39)	D119E	probably damaging	Het
Tor1aip1	T	A	1: 155,889,117 (GRCm39)	N113I	probably damaging	Het
Ubac2	T	A	14: 122,144,802 (GRCm39)	Y87N	possibly damaging	Het
Usp29	A	T	7: 6,965,617 (GRCm39)		probably null	Het
Zfp276	A	G	8: 123,991,736 (GRCm39)	E428G	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
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
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

Posted On

2015-04-16