Mutagenetix > Incidental Mutation

Incidental Mutation 'R8337:Gsdmd'

644692

Institutional Source

Beutler Lab

Gene Symbol

Gsdmd

Ensembl Gene

ENSMUSG00000022575

Gene Name

gasdermin D

Synonyms

Dfna5l, Gsdmdc1, 1810036L03Rik, DF5L, M2-4

MMRRC Submission

067800-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75734176-75739257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75736270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 133 (T133I)

Ref Sequence

ENSEMBL: ENSMUSP00000023238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023238] [ENSMUST00000229331] [ENSMUST00000230514]

AlphaFold

Q9D8T2

Predicted Effect

probably benign
Transcript: ENSMUST00000023238
AA Change: T133I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000023238
Gene: ENSMUSG00000022575
AA Change: T133I

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	461	8.3e-175	PFAM
low complexity region	470	482	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229331
AA Change: T96I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000230514

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and grossly normal with no apparent defects in the development and maintenance of the intestinal epithelium. Mice homozygous for another null allele exhibit impaired induced pyroptosis and Il1b secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	C	16: 88,556,151 (GRCm39)	Y122H	probably damaging	Het
Abhd14b	T	A	9: 106,327,240 (GRCm39)	H7Q	probably benign	Het
Acod1	C	T	14: 103,286,780 (GRCm39)	R28W	possibly damaging	Het
Agap2	A	G	10: 126,924,194 (GRCm39)	T803A	unknown	Het
Angptl7	T	C	4: 148,581,741 (GRCm39)	E215G	probably damaging	Het
Ankrd34c	T	A	9: 89,611,951 (GRCm39)	D130V	probably damaging	Het
BC028528	A	G	3: 95,792,298 (GRCm39)	V144A	probably benign	Het
Cab39l	T	C	14: 59,776,640 (GRCm39)	F274L	probably damaging	Het
Cdsn	T	C	17: 35,866,415 (GRCm39)	S315P	possibly damaging	Het
Celsr3	CGGGG	CGGGGG	9: 108,718,471 (GRCm39)		probably null	Het
Cep97	A	T	16: 55,735,394 (GRCm39)	L540*	probably null	Het
Chrna2	G	T	14: 66,387,017 (GRCm39)	E388*	probably null	Het
Ckap4	A	G	10: 84,364,460 (GRCm39)	V201A	probably damaging	Het
Clec4b1	A	G	6: 123,042,922 (GRCm39)	K47R	probably benign	Het
Clvs2	A	T	10: 33,404,484 (GRCm39)	I244N	possibly damaging	Het
Cmtr1	G	A	17: 29,893,151 (GRCm39)	E57K	probably benign	Het
Cxxc1	T	A	18: 74,353,910 (GRCm39)	D565E	possibly damaging	Het
Dtx3l	T	A	16: 35,754,073 (GRCm39)	M178L	probably benign	Het
Eml2	A	G	7: 18,930,161 (GRCm39)	D294G	possibly damaging	Het
Flt3	A	G	5: 147,269,698 (GRCm39)		probably null	Het
Frs3	T	A	17: 48,014,777 (GRCm39)	L490Q	probably damaging	Het
Gm6882	G	A	7: 21,161,559 (GRCm39)	T103I	possibly damaging	Het
Hhipl2	C	A	1: 183,209,540 (GRCm39)	C331*	probably null	Het
Ifnar1	C	A	16: 91,302,224 (GRCm39)	D566E	possibly damaging	Het
Ighv1-34	A	T	12: 114,814,939 (GRCm39)	N74K	probably benign	Het
Itk	T	C	11: 46,233,222 (GRCm39)		probably null	Het
Kdm7a	T	C	6: 39,122,461 (GRCm39)	D801G	probably benign	Het
Marchf1	T	C	8: 66,871,641 (GRCm39)	L139P	probably damaging	Het
Metap1d	T	C	2: 71,345,982 (GRCm39)	V181A	probably damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mrps25	T	C	6: 92,152,745 (GRCm39)	T92A	probably benign	Het
Mucl3	T	C	17: 35,948,486 (GRCm39)	H371R	possibly damaging	Het
Ntng2	C	A	2: 29,138,050 (GRCm39)	M1I	probably null	Het
Or51b17	C	T	7: 103,542,256 (GRCm39)	G229R	probably benign	Het
Or51q1	A	C	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or8b57	T	C	9: 40,003,695 (GRCm39)	K189R	probably benign	Het
Pla2g12a	A	G	3: 129,672,465 (GRCm39)	D33G	probably damaging	Het
Prlhr	A	G	19: 60,456,284 (GRCm39)	V94A	possibly damaging	Het
Ralgapb	T	A	2: 158,292,192 (GRCm39)	S793T	probably benign	Het
Rapgef6	T	A	11: 54,522,127 (GRCm39)	L455*	probably null	Het
Sbf2	T	C	7: 110,040,669 (GRCm39)	H386R	probably benign	Het
Sec23ip	C	A	7: 128,365,749 (GRCm39)	N539K	probably damaging	Het
Shisa4	A	G	1: 135,300,907 (GRCm39)	L121P	probably damaging	Het
Slc28a2b	C	T	2: 122,355,617 (GRCm39)	T603I	probably benign	Het
Stard9	T	A	2: 120,510,306 (GRCm39)	F296I	probably damaging	Het
Strn3	T	C	12: 51,707,955 (GRCm39)	K147E	probably damaging	Het
Taf5l	T	C	8: 124,724,841 (GRCm39)	N326S	probably benign	Het
Tfb2m	T	A	1: 179,369,914 (GRCm39)	I170L	probably benign	Het
Tfec	T	C	6: 16,845,422 (GRCm39)	N79S	possibly damaging	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Tox3	T	C	8: 91,074,507 (GRCm39)	Y24C	probably damaging	Het
Vmn2r6	A	T	3: 64,463,526 (GRCm39)	L436*	probably null	Het
Vmn2r80	A	G	10: 78,984,707 (GRCm39)	I20V	probably benign	Het
Wdr97	T	C	15: 76,245,684 (GRCm39)	V1307A		Het

Other mutations in Gsdmd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Gsdmd	APN	15	75,736,186 (GRCm39)	missense	probably damaging	1.00
IGL01528:Gsdmd	APN	15	75,735,354 (GRCm39)	missense	possibly damaging	0.62
IGL03005:Gsdmd	APN	15	75,739,015 (GRCm39)	missense	possibly damaging	0.85
gasder	UTSW	15	75,736,206 (GRCm39)	missense	probably damaging	1.00
R0788:Gsdmd	UTSW	15	75,736,103 (GRCm39)	nonsense	probably null
R1301:Gsdmd	UTSW	15	75,738,908 (GRCm39)	splice site	probably null
R3725:Gsdmd	UTSW	15	75,737,939 (GRCm39)	missense	probably benign	0.05
R4585:Gsdmd	UTSW	15	75,737,600 (GRCm39)	splice site	probably null
R4917:Gsdmd	UTSW	15	75,736,241 (GRCm39)	missense	probably benign	0.01
R4918:Gsdmd	UTSW	15	75,736,241 (GRCm39)	missense	probably benign	0.01
R4920:Gsdmd	UTSW	15	75,736,206 (GRCm39)	missense	probably damaging	1.00
R5593:Gsdmd	UTSW	15	75,738,856 (GRCm39)	missense	probably damaging	0.99
R7078:Gsdmd	UTSW	15	75,736,204 (GRCm39)	missense	probably damaging	1.00
R7372:Gsdmd	UTSW	15	75,737,618 (GRCm39)	missense	probably benign	0.41
R7408:Gsdmd	UTSW	15	75,738,202 (GRCm39)	missense	probably damaging	0.97
R7612:Gsdmd	UTSW	15	75,736,803 (GRCm39)	missense	probably damaging	1.00
R7999:Gsdmd	UTSW	15	75,735,295 (GRCm39)	missense	probably damaging	1.00
R8197:Gsdmd	UTSW	15	75,736,186 (GRCm39)	missense	possibly damaging	0.79
R9025:Gsdmd	UTSW	15	75,739,053 (GRCm39)	missense	probably benign
R9749:Gsdmd	UTSW	15	75,735,411 (GRCm39)	missense	probably damaging	0.99
X0052:Gsdmd	UTSW	15	75,737,977 (GRCm39)	missense	possibly damaging	0.68
Z1088:Gsdmd	UTSW	15	75,735,323 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGGACTAGGACCTTAGAGCTG -3'
(R):5'- TGAGCATCCTTCCCAACCTG -3'

Sequencing Primer
(F):5'- AGAGCTGGTCTCGTTTTAGAACC -3'
(R):5'- AACCTGCTGTTGTTTCTACTACTC -3'

Posted On

2020-09-02