Mutagenetix > Incidental Mutation

Incidental Mutation 'R9749:Gsdmd'

732439

Institutional Source

Beutler Lab

Gene Symbol

Gsdmd

Ensembl Gene

ENSMUSG00000022575

Gene Name

gasdermin D

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9749 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75734176-75739257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75735411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 52 (K52E)

Ref Sequence

ENSEMBL: ENSMUSP00000023238 (fasta)

Gene Model

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

AlphaFold

Q9D8T2

Predicted Effect

probably damaging
Transcript: ENSMUST00000023238
AA Change: K52E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023238
Gene: ENSMUSG00000022575
AA Change: K52E

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 damaging
Transcript: ENSMUST00000229331
AA Change: K52E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230514
AA Change: K52E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.3%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,080,521 (GRCm39)	I382F	possibly damaging	Het
Adamtsl3	A	G	7: 82,099,394 (GRCm39)	S183G	probably benign	Het
Adamtsl4	T	C	3: 95,591,457 (GRCm39)	H170R	probably benign	Het
Adcy2	T	C	13: 68,773,974 (GRCm39)	D1023G	probably damaging	Het
Agrn	C	A	4: 156,258,114 (GRCm39)	V1083F	probably benign	Het
Arhgap21	T	C	2: 20,854,026 (GRCm39)	T1789A	probably benign	Het
Atr	T	C	9: 95,819,703 (GRCm39)		probably null	Het
Bcl2l13	T	C	6: 120,842,633 (GRCm39)	S109P	possibly damaging	Het
Bik	A	T	15: 83,425,540 (GRCm39)	T14S	possibly damaging	Het
Car7	A	G	8: 105,275,054 (GRCm39)	D164G	probably damaging	Het
Cat	T	A	2: 103,285,445 (GRCm39)	K499M	probably benign	Het
Ccar2	T	A	14: 70,388,728 (GRCm39)	Q161L	probably benign	Het
Cd109	T	G	9: 78,592,166 (GRCm39)	V760G	probably damaging	Het
Cep350	A	T	1: 155,828,985 (GRCm39)	H246Q	probably benign	Het
Cfap91	A	G	16: 38,128,487 (GRCm39)	I496T	probably damaging	Het
Chst13	T	C	6: 90,295,251 (GRCm39)	D54G	probably damaging	Het
Cilk1	T	A	9: 78,060,999 (GRCm39)	V215E	probably damaging	Het
Col4a4	A	G	1: 82,463,353 (GRCm39)	S1046P	unknown	Het
Col6a5	T	C	9: 105,739,190 (GRCm39)	Q2581R	probably damaging	Het
Cox5b-ps	G	A	13: 21,685,515 (GRCm39)	A25V	probably benign	Het
Csmd2	A	T	4: 128,389,921 (GRCm39)	I2219F		Het
Cux2	G	A	5: 122,007,780 (GRCm39)	S627L	possibly damaging	Het
Cyp2a22	A	T	7: 26,638,715 (GRCm39)	W24R	probably null	Het
Dhrs7c	A	T	11: 67,702,479 (GRCm39)	T156S	probably damaging	Het
Dnah9	A	G	11: 65,986,202 (GRCm39)	V1144A	probably damaging	Het
Folh1	T	C	7: 86,368,908 (GRCm39)	T740A	probably damaging	Het
Foxo4	G	A	X: 100,301,955 (GRCm39)	S209N	probably benign	Het
Gm10300	A	G	4: 131,802,029 (GRCm39)	T8A	unknown	Het
Gns	T	A	10: 121,214,057 (GRCm39)	I244N	probably benign	Het
H1f0	A	G	15: 78,913,217 (GRCm39)	D99G	probably benign	Het
Hapln4	T	C	8: 70,539,724 (GRCm39)	Y252H	probably damaging	Het
Hmcn1	A	C	1: 150,632,339 (GRCm39)	I866S	possibly damaging	Het
Hrnr	C	T	3: 93,231,384 (GRCm39)	R541C	unknown	Het
Igkv4-57-1	A	G	6: 69,521,408 (GRCm39)	I98T	probably damaging	Het
Itih3	T	A	14: 30,641,279 (GRCm39)	D253V	probably damaging	Het
Kansl1l	T	A	1: 66,760,970 (GRCm39)	E869D	probably damaging	Het
Kif13a	T	C	13: 46,914,227 (GRCm39)	Q502R	probably damaging	Het
Lama5	T	A	2: 179,825,433 (GRCm39)	Q2447L	probably benign	Het
Lcn6	A	T	2: 25,570,034 (GRCm39)	M1L	probably benign	Het
Lrrtm1	T	C	6: 77,220,855 (GRCm39)	V104A	probably damaging	Het
Map3k13	T	C	16: 21,740,581 (GRCm39)	L636P	probably benign	Het
Melk	T	A	4: 44,307,067 (GRCm39)	H74Q	possibly damaging	Het
Mixl1	A	T	1: 180,522,311 (GRCm39)	M190K	probably benign	Het
Mttp	A	G	3: 137,830,989 (GRCm39)	S27P	probably damaging	Het
Myh6	T	C	14: 55,190,943 (GRCm39)	I911V	probably damaging	Het
Ncapd3	T	A	9: 26,956,873 (GRCm39)	I262N	probably benign	Het
Ncapg2	C	A	12: 116,411,368 (GRCm39)	S1051*	probably null	Het
Nckap1	G	A	2: 80,401,568 (GRCm39)	Q39*	probably null	Het
Nemp1	A	G	10: 127,524,198 (GRCm39)	D76G	probably benign	Het
Or12e10	A	C	2: 87,640,202 (GRCm39)	K13Q	probably benign	Het
Or2a20	G	A	6: 43,194,258 (GRCm39)	W137*	probably null	Het
Or2l13	A	T	16: 19,306,113 (GRCm39)	H175L	possibly damaging	Het
Or4a2	T	A	2: 89,248,662 (GRCm39)	I32F	possibly damaging	Het
Or8k36-ps1	T	C	2: 86,437,909 (GRCm39)	E2G	probably benign	Het
Osbpl5	C	A	7: 143,249,308 (GRCm39)	V578L	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Rabl3	A	G	16: 37,377,190 (GRCm39)	D49G	possibly damaging	Het
Rngtt	A	G	4: 33,368,618 (GRCm39)	I384V	possibly damaging	Het
Robo1	T	C	16: 72,105,257 (GRCm39)		probably benign	Het
Rtcb	C	A	10: 85,785,453 (GRCm39)	R125L	probably damaging	Het
Rtn4rl2	C	A	2: 84,702,954 (GRCm39)	R206L	probably damaging	Het
Sbk2	A	T	7: 4,960,333 (GRCm39)	I279N	probably benign	Het
Scaf1	A	G	7: 44,656,576 (GRCm39)	S768P	unknown	Het
Slc6a9	A	G	4: 117,721,198 (GRCm39)	H316R	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Tas2r136	G	T	6: 132,755,106 (GRCm39)	T7K	probably damaging	Het
Tbc1d9	T	A	8: 83,968,339 (GRCm39)		probably null	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tmem40	T	C	6: 115,719,306 (GRCm39)	D53G	probably benign	Het
Tram1	A	T	1: 13,640,238 (GRCm39)	V272D	possibly damaging	Het
Trpc4	G	A	3: 54,102,302 (GRCm39)	D67N	probably damaging	Het
Ttc6	A	T	12: 57,701,559 (GRCm39)	T591S	probably benign	Het
Ube2g1	A	T	11: 72,570,199 (GRCm39)	E144V	probably benign	Het
Unc80	A	G	1: 66,544,179 (GRCm39)	D434G	probably damaging	Het
Vmn1r168	C	A	7: 23,240,237 (GRCm39)	N31K	probably damaging	Het
Vmn1r79	A	T	7: 11,910,450 (GRCm39)	T111S	probably damaging	Het
Vmn2r118	C	T	17: 55,915,415 (GRCm39)		probably null	Het
Vps35l	C	A	7: 118,352,107 (GRCm39)	D195E	probably benign	Het
Yy1	A	G	12: 108,772,417 (GRCm39)	D231G	possibly damaging	Het
Zfp748	A	G	13: 67,690,573 (GRCm39)	V229A	probably benign	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
R8337:Gsdmd	UTSW	15	75,736,270 (GRCm39)	missense	probably benign	0.01
R9025:Gsdmd	UTSW	15	75,739,053 (GRCm39)	missense	probably benign
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'- GCAAGGCTACTTTGAAGGGATG -3'
(R):5'- ACCTCCCTACTCTGGAAATAGG -3'

Sequencing Primer
(F):5'- GAACTAAGTACGGAGCCCTGC -3'
(R):5'- GACCAGAGGAGTAGAGTTGAACATG -3'

Posted On

2022-11-14