Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02002:Gsdma2'

183088

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gsdma2

Ensembl Gene

ENSMUSG00000017211

Gene Name

gasdermin A2

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL02002

Quality Score

Status

Chromosome

Chromosomal Location

98537585-98548790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98541800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 176 (F176L)

Ref Sequence

ENSEMBL: ENSMUSP00000091470 (fasta)

Gene Model

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

AlphaFold

Q32M21

Predicted Effect

probably benign
Transcript: ENSMUST00000017355

SMART Domains

Protein: ENSMUSP00000017355
Gene: ENSMUSG00000017211

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 damaging
Transcript: ENSMUST00000093938
AA Change: F176L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091470
Gene: ENSMUSG00000017211
AA Change: F176L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138686

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	G	T	17: 84,989,479 (GRCm39)	Y76*	probably null	Het
Acadsb	T	A	7: 131,030,258 (GRCm39)	V135E	probably damaging	Het
Acap1	A	G	11: 69,775,286 (GRCm39)	Y326H	probably damaging	Het
Actl11	T	A	9: 107,806,529 (GRCm39)	V284D	probably benign	Het
Adcy10	G	T	1: 165,349,412 (GRCm39)	D428Y	probably damaging	Het
Akap8	A	G	17: 32,528,470 (GRCm39)	C481R	probably damaging	Het
Amotl2	G	A	9: 102,602,316 (GRCm39)	A26T	probably damaging	Het
Apob	T	C	12: 8,044,822 (GRCm39)	V814A	probably benign	Het
Casp8ap2	T	A	4: 32,639,391 (GRCm39)	N148K	probably damaging	Het
Ccdc149	G	A	5: 52,563,421 (GRCm39)	T124M	probably damaging	Het
Cd320	A	G	17: 34,062,214 (GRCm39)		probably benign	Het
Clca4b	T	C	3: 144,638,194 (GRCm39)	T23A	probably benign	Het
Col22a1	A	G	15: 71,682,946 (GRCm39)		probably benign	Het
Col24a1	T	A	3: 145,062,699 (GRCm39)	F675I	possibly damaging	Het
Col6a3	A	G	1: 90,709,858 (GRCm39)		probably benign	Het
Dap3	A	T	3: 88,843,535 (GRCm39)	M19K	probably benign	Het
Dsg2	A	G	18: 20,712,233 (GRCm39)	D123G	probably damaging	Het
Dysf	T	A	6: 84,187,769 (GRCm39)		probably benign	Het
Erbb4	A	G	1: 68,119,885 (GRCm39)	S853P	probably damaging	Het
Fbn2	A	G	18: 58,247,625 (GRCm39)	M423T	probably benign	Het
Fcgbpl1	A	T	7: 27,852,221 (GRCm39)	Y1248F	probably damaging	Het
Fgfr1	T	C	8: 26,045,727 (GRCm39)	Y112H	probably damaging	Het
Gbp7	G	A	3: 142,244,661 (GRCm39)	A203T	probably damaging	Het
Gon4l	C	T	3: 88,802,643 (GRCm39)	P1085S	possibly damaging	Het
Haghl	A	G	17: 26,003,239 (GRCm39)	F131S	probably damaging	Het
Hmcn1	G	A	1: 150,491,049 (GRCm39)	P4167S	probably damaging	Het
Hscb	T	C	5: 110,978,820 (GRCm39)	N199D	probably benign	Het
Lmbr1l	T	A	15: 98,802,666 (GRCm39)	N428Y	probably damaging	Het
Mc2r	T	A	18: 68,540,505 (GRCm39)	M263L	probably benign	Het
Metap1	T	A	3: 138,168,150 (GRCm39)	T325S	probably damaging	Het
Mff	A	G	1: 82,719,696 (GRCm39)	R225G	probably damaging	Het
Naprt	A	T	15: 75,763,221 (GRCm39)	L474Q	probably damaging	Het
Nin	A	T	12: 70,109,473 (GRCm39)	Y155*	probably null	Het
Nrg3	A	T	14: 38,092,724 (GRCm39)	C612*	probably null	Het
Or2aj5	T	C	16: 19,425,300 (GRCm39)	I39M	possibly damaging	Het
Or5p52	A	T	7: 107,502,497 (GRCm39)	D191V	possibly damaging	Het
Or6c35	T	A	10: 129,168,996 (GRCm39)	I82K	probably damaging	Het
Pdilt	A	T	7: 119,099,667 (GRCm39)	F200L	probably damaging	Het
Ppard	T	G	17: 28,517,877 (GRCm39)	F315C	probably damaging	Het
Ror1	T	A	4: 100,298,381 (GRCm39)	S585T	probably damaging	Het
Spdye4a	T	A	5: 143,211,460 (GRCm39)	I35F	possibly damaging	Het
Tenm2	T	C	11: 36,097,922 (GRCm39)	K442R	probably benign	Het
Tln2	A	G	9: 67,263,980 (GRCm39)	I553T	probably damaging	Het
Tmem269	T	A	4: 119,071,338 (GRCm39)	I26F	probably benign	Het
Tsen2	T	C	6: 115,536,568 (GRCm39)	V108A	probably benign	Het
Ttyh3	A	T	5: 140,615,238 (GRCm39)	D383E	probably damaging	Het
Tut7	A	G	13: 59,929,910 (GRCm39)	S1042P	possibly damaging	Het
Usp13	T	C	3: 32,901,974 (GRCm39)	S102P	probably damaging	Het
Vmn2r118	T	G	17: 55,899,619 (GRCm39)	S762R	probably damaging	Het
Washc4	A	G	10: 83,415,407 (GRCm39)	N799S	possibly damaging	Het
Zdhhc17	C	T	10: 110,803,550 (GRCm39)	V256I	probably benign	Het
Zfp51	T	A	17: 21,684,221 (GRCm39)	F279I	probably damaging	Het
Zzz3	A	G	3: 152,157,006 (GRCm39)	T223A	probably damaging	Het

Other mutations in Gsdma2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03091:Gsdma2	APN	11	98,542,828 (GRCm39)	missense	probably damaging	1.00
IGL03252:Gsdma2	APN	11	98,539,916 (GRCm39)	missense	probably damaging	1.00
IGL03279:Gsdma2	APN	11	98,548,549 (GRCm39)	missense	unknown
R0116:Gsdma2	UTSW	11	98,540,009 (GRCm39)	missense	probably damaging	1.00
R0443:Gsdma2	UTSW	11	98,548,514 (GRCm39)	missense	probably damaging	1.00
R0521:Gsdma2	UTSW	11	98,545,727 (GRCm39)	nonsense	probably null
R0626:Gsdma2	UTSW	11	98,542,810 (GRCm39)	missense	probably damaging	0.96
R1163:Gsdma2	UTSW	11	98,541,684 (GRCm39)	missense	probably damaging	0.96
R1340:Gsdma2	UTSW	11	98,548,475 (GRCm39)	missense	probably damaging	0.97
R1834:Gsdma2	UTSW	11	98,539,905 (GRCm39)	missense	probably damaging	1.00
R1972:Gsdma2	UTSW	11	98,541,744 (GRCm39)	missense	probably benign	0.04
R2344:Gsdma2	UTSW	11	98,546,417 (GRCm39)	missense	probably damaging	1.00
R2964:Gsdma2	UTSW	11	98,548,085 (GRCm39)	missense	probably damaging	1.00
R4093:Gsdma2	UTSW	11	98,541,677 (GRCm39)	missense	probably benign	0.42
R4256:Gsdma2	UTSW	11	98,542,758 (GRCm39)	splice site	probably null
R4711:Gsdma2	UTSW	11	98,540,439 (GRCm39)	missense	probably damaging	0.96
R5175:Gsdma2	UTSW	11	98,543,438 (GRCm39)	missense	probably benign	0.01
R6734:Gsdma2	UTSW	11	98,540,416 (GRCm39)	missense	possibly damaging	0.94
R6909:Gsdma2	UTSW	11	98,543,383 (GRCm39)	nonsense	probably null
R7621:Gsdma2	UTSW	11	98,540,375 (GRCm39)	missense	probably benign
R7749:Gsdma2	UTSW	11	98,548,547 (GRCm39)	missense	unknown
R8135:Gsdma2	UTSW	11	98,542,872 (GRCm39)	missense	probably benign	0.00
R8775:Gsdma2	UTSW	11	98,540,009 (GRCm39)	missense	probably damaging	1.00
R8775-TAIL:Gsdma2	UTSW	11	98,540,009 (GRCm39)	missense	probably damaging	1.00
R9599:Gsdma2	UTSW	11	98,540,459 (GRCm39)	missense	possibly damaging	0.77

Posted On

2014-05-07