Mutagenetix > Incidental Mutations

Incidental Mutation 'R8135:Gsdma2'

632224

Institutional Source

Beutler Lab

Gene Symbol

Gsdma2

Ensembl Gene

ENSMUSG00000017211

Gene Name

gasdermin A2

Synonyms

2210411P14Rik, 2210006M16Rik, 2200001G21Rik, 2210009F20Rik, Gsdm2, Gsdml2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8135 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98646759-98657964 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98652046 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 211 (I211V)

Ref Sequence

ENSEMBL: ENSMUSP00000091470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017355] [ENSMUST00000093938]

Predicted Effect

probably benign
Transcript: ENSMUST00000017355
AA Change: I44V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000017355
Gene: ENSMUSG00000017211
AA Change: I44V

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	6	251	2.9e-73	PFAM
low complexity region	259	273	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093938
AA Change: I211V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091470
Gene: ENSMUSG00000017211
AA Change: I211V

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	3	418	9.5e-144	PFAM
low complexity region	426	440	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	G	1: 78,696,995	I420V	probably benign	Het
Adam7	A	T	14: 68,516,573	M359K	probably damaging	Het
Adra1d	C	T	2: 131,561,772	A133T	probably damaging	Het
B3galnt2	T	A	13: 13,970,869		probably null	Het
Camk1g	A	G	1: 193,354,027	V175A	possibly damaging	Het
Cfi	A	G	3: 129,855,000	N178D	probably benign	Het
Csf2rb	T	A	15: 78,348,119	I542K	possibly damaging	Het
Ctsz	T	C	2: 174,429,153	T183A	probably benign	Het
Dhx8	A	G	11: 101,738,264	D213G	unknown	Het
Dph7	T	C	2: 24,969,544	I271T	probably benign	Het
Edem1	G	T	6: 108,829,061	E108*	probably null	Het
Enpp4	T	C	17: 44,101,335	T328A	probably benign	Het
Fasl	A	G	1: 161,787,128	V122A	probably benign	Het
Fut2	T	C	7: 45,651,142	T69A	probably damaging	Het
Gaa	T	C	11: 119,278,384		probably null	Het
Galnt5	T	A	2: 58,014,868	V481D	probably damaging	Het
H2-M10.4	T	C	17: 36,461,770	T107A	probably benign	Het
Iqcg	T	A	16: 33,029,024	K297N	probably benign	Het
Map2	A	G	1: 66,413,669	T573A	probably damaging	Het
Nhsl1	A	G	10: 18,531,432	D1438G	probably damaging	Het
Nipal2	A	T	15: 34,678,573	Y41N	possibly damaging	Het
Obscn	A	T	11: 59,031,877	S5878T	possibly damaging	Het
Pde6a	T	C	18: 61,285,925	F791L	probably damaging	Het
Phip	A	T	9: 82,930,374	N308K	probably benign	Het
Pigc	A	G	1: 161,970,565	K39E	possibly damaging	Het
Robo2	T	G	16: 73,933,160	I1050L	probably benign	Het
Rps2	A	G	17: 24,720,435	K54E	probably benign	Het
Set	T	A	2: 30,069,427	D137E	probably benign	Het
Sipa1l1	A	G	12: 82,341,301	I100M	probably benign	Het
Spdye4b	T	C	5: 143,195,022	V81A	probably damaging	Het
Tbc1d2	T	C	4: 46,609,071	D722G	probably benign	Het
Tecpr1	T	A	5: 144,198,602	D1011V	probably damaging	Het
Unc80	A	T	1: 66,509,287	I573F	possibly damaging	Het
Vmn1r74	T	A	7: 11,847,603	C277S	probably benign	Het
Vwa1	T	A	4: 155,772,894	D149V	probably damaging	Het
Zfp397	T	A	18: 23,956,507	V23E	probably damaging	Het
Zmynd8	T	C	2: 165,812,426	D722G	probably damaging	Het

Other mutations in Gsdma2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02002:Gsdma2	APN	11	98650974	missense	probably damaging	1.00
IGL03091:Gsdma2	APN	11	98652002	missense	probably damaging	1.00
IGL03252:Gsdma2	APN	11	98649090	missense	probably damaging	1.00
IGL03279:Gsdma2	APN	11	98657723	missense	unknown
R0116:Gsdma2	UTSW	11	98649183	missense	probably damaging	1.00
R0443:Gsdma2	UTSW	11	98657688	missense	probably damaging	1.00
R0521:Gsdma2	UTSW	11	98654901	nonsense	probably null
R0626:Gsdma2	UTSW	11	98651984	missense	probably damaging	0.96
R1163:Gsdma2	UTSW	11	98650858	missense	probably damaging	0.96
R1340:Gsdma2	UTSW	11	98657649	missense	probably damaging	0.97
R1834:Gsdma2	UTSW	11	98649079	missense	probably damaging	1.00
R1972:Gsdma2	UTSW	11	98650918	missense	probably benign	0.04
R2344:Gsdma2	UTSW	11	98655591	missense	probably damaging	1.00
R2964:Gsdma2	UTSW	11	98657259	missense	probably damaging	1.00
R4093:Gsdma2	UTSW	11	98650851	missense	probably benign	0.42
R4256:Gsdma2	UTSW	11	98651932	splice site	probably null
R4711:Gsdma2	UTSW	11	98649613	missense	probably damaging	0.96
R5175:Gsdma2	UTSW	11	98652612	missense	probably benign	0.01
R6734:Gsdma2	UTSW	11	98649590	missense	possibly damaging	0.94
R6909:Gsdma2	UTSW	11	98652557	nonsense	probably null
R7621:Gsdma2	UTSW	11	98649549	missense	probably benign
R7749:Gsdma2	UTSW	11	98657721	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGGCCATAAGTTCAGAACACAG -3'
(R):5'- TGGTTCTGTCTCCAGCAATG -3'

Sequencing Primer
(F):5'- TACTGGACATCCTACTGAAGGC -3'
(R):5'- TGGGCAATATAAGATGCTGCTCCC -3'

Posted On

2020-06-30