Mutagenetix > Incidental Mutation

Incidental Mutation 'R3711:Gsdma'

259615

Institutional Source

Beutler Lab

Gene Symbol

Gsdma

Ensembl Gene

ENSMUSG00000017204

Gene Name

gasdermin A

Synonyms

Gsdm1, H312E, Gsdm, Gsdma1

MMRRC Submission

040704-MU

Accession Numbers

Essential gene?

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

Stock #

R3711 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98555177-98568534 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 98557045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 53 (Y53*)

Ref Sequence

ENSEMBL: ENSMUSP00000017348 (fasta)

Gene Model

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

AlphaFold

Q9EST1

Predicted Effect

probably null
Transcript: ENSMUST00000017348
AA Change: Y53*

SMART Domains

Protein: ENSMUSP00000017348
Gene: ENSMUSG00000017204
AA Change: Y53*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,837,081 (GRCm39)	V1138A	possibly damaging	Het
Adgrv1	A	T	13: 81,567,594 (GRCm39)	I5193K	probably benign	Het
Adnp	A	T	2: 168,026,743 (GRCm39)	I184N	probably damaging	Het
Ahnak	T	G	19: 8,985,262 (GRCm39)	V2182G	probably benign	Het
Aif1l	T	A	2: 31,859,763 (GRCm39)	F94L	probably damaging	Het
Aspm	G	A	1: 139,385,838 (GRCm39)	G494D	probably benign	Het
Atic	T	A	1: 71,617,738 (GRCm39)	S563T	probably benign	Het
Bahcc1	A	T	11: 120,165,923 (GRCm39)	I1060F	probably benign	Het
Cd27	A	G	6: 125,210,281 (GRCm39)	Y189H	probably damaging	Het
Dnm2	C	A	9: 21,417,669 (GRCm39)		probably benign	Het
Exo1	A	G	1: 175,721,395 (GRCm39)	T345A	probably benign	Het
Fbf1	T	C	11: 116,052,299 (GRCm39)	H53R	possibly damaging	Het
Fbf1	A	G	11: 116,054,179 (GRCm39)	I29T	probably damaging	Het
Gm14399	G	A	2: 174,973,303 (GRCm39)	R151*	probably null	Het
Hid1	A	T	11: 115,249,601 (GRCm39)	L208Q	probably damaging	Het
Kif4-ps	A	G	12: 101,112,312 (GRCm39)	E147G	probably damaging	Het
Kif7	A	T	7: 79,360,640 (GRCm39)	V245D	probably benign	Het
Klhdc4	A	G	8: 122,524,794 (GRCm39)	V378A	probably benign	Het
Lrfn2	A	G	17: 49,378,188 (GRCm39)	E423G	possibly damaging	Het
Lrp4	T	A	2: 91,332,299 (GRCm39)	N1665K	probably benign	Het
Mast3	C	A	8: 71,232,251 (GRCm39)	R1242L	probably benign	Het
Mon1b	T	C	8: 114,365,779 (GRCm39)	M369T	possibly damaging	Het
Mta3	A	G	17: 84,070,417 (GRCm39)	I193V	probably damaging	Het
Narf	G	T	11: 121,137,764 (GRCm39)	E224*	probably null	Het
Nedd4l	G	A	18: 65,342,790 (GRCm39)	V909I	possibly damaging	Het
Nmnat3	T	A	9: 98,292,276 (GRCm39)	Y108N	probably damaging	Het
Npr2	A	T	4: 43,643,378 (GRCm39)	Y534F	probably benign	Het
Obox5	A	T	7: 15,492,713 (GRCm39)	M223L	probably benign	Het
Optc	A	T	1: 133,832,819 (GRCm39)	S94T	probably benign	Het
Or10al5	T	A	17: 38,063,271 (GRCm39)	C175*	probably null	Het
Or1l4	A	G	2: 37,091,285 (GRCm39)	T11A	probably benign	Het
Or5d47	A	T	2: 87,804,066 (GRCm39)	N314K	probably benign	Het
Or6c206	A	T	10: 129,097,093 (GRCm39)	K88*	probably null	Het
Or8w1	T	C	2: 87,466,025 (GRCm39)	D22G	probably benign	Het
Rbm27	T	C	18: 42,425,177 (GRCm39)		probably benign	Het
Spopl	C	T	2: 23,427,392 (GRCm39)	R221Q	probably damaging	Het
Stab2	A	G	10: 86,702,572 (GRCm39)	L423P	probably damaging	Het
Sun5	A	G	2: 153,709,468 (GRCm39)	V74A	probably benign	Het
Tanc2	A	G	11: 105,689,516 (GRCm39)	Y226C	probably damaging	Het
Tlr6	T	C	5: 65,111,152 (GRCm39)	D585G	possibly damaging	Het
Tmt1a3	A	T	15: 100,232,961 (GRCm39)	M51L	probably benign	Het
Tnrc6c	A	G	11: 117,613,950 (GRCm39)	T863A	probably benign	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Wt1	G	A	2: 104,993,773 (GRCm39)		probably benign	Het
Ythdc2	C	T	18: 44,966,240 (GRCm39)	L159F	probably damaging	Het
Zc3h6	A	G	2: 128,859,251 (GRCm39)	N1094S	probably benign	Het
Zdbf2	T	C	1: 63,347,830 (GRCm39)	S2070P	possibly damaging	Het
Zfp648	T	A	1: 154,080,304 (GRCm39)	S154R	probably benign	Het
Zfp748	A	G	13: 67,688,915 (GRCm39)	C782R	probably damaging	Het
Zfp992	C	T	4: 146,551,976 (GRCm39)	H566Y	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
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
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'- TACAAAGTCCTTACCAGGTCTTG -3'
(R):5'- AGAGAACTCTGGGCTTGGTG -3'

Sequencing Primer
(F):5'- AAGTCCTTACCAGGTCTTGACGAC -3'
(R):5'- TGGTGACCCCTAACCATATCAGTG -3'

Posted On

2015-01-23