Mutagenetix > Incidental Mutation

Incidental Mutation 'R7612:Gsdmd'

588682

Institutional Source

Beutler Lab

Gene Symbol

Gsdmd

Ensembl Gene

ENSMUSG00000022575

Gene Name

gasdermin D

Synonyms

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

MMRRC Submission

045680-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7612 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75734176-75739257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 75736803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 140 (L140R)

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: L140R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023238
Gene: ENSMUSG00000022575
AA Change: L140R

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: L103R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000230514

Meta Mutation Damage Score

0.8445

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057N15Rik	A	T	16: 88,570,496 (GRCm39)	Y181*	probably null	Het
Adgrf2	T	G	17: 43,025,271 (GRCm39)	K71T	possibly damaging	Het
Brca2	T	A	5: 150,464,076 (GRCm39)	M1280K	probably benign	Het
Card14	T	C	11: 119,224,405 (GRCm39)	S541P	possibly damaging	Het
Cd19	G	T	7: 126,013,496 (GRCm39)	Q98K	possibly damaging	Het
Ceacam5	T	A	7: 17,493,341 (GRCm39)	I788N	possibly damaging	Het
Cpne2	A	T	8: 95,284,048 (GRCm39)	I290L	probably benign	Het
Cpsf1	C	T	15: 76,481,209 (GRCm39)	V1216I	probably benign	Het
Csad	G	A	15: 102,097,357 (GRCm39)		probably benign	Het
Depdc7	T	A	2: 104,560,853 (GRCm39)	Q47L	probably benign	Het
Dnajc6	T	A	4: 101,455,123 (GRCm39)	S105T	probably benign	Het
Dsg4	C	A	18: 20,604,047 (GRCm39)	P838Q	probably damaging	Het
Efcab3	T	A	11: 104,999,647 (GRCm39)	Y179N	possibly damaging	Het
Egfr	A	T	11: 16,809,025 (GRCm39)	N73I	possibly damaging	Het
Eya2	T	C	2: 165,529,657 (GRCm39)		probably null	Het
Fubp1	A	G	3: 151,923,652 (GRCm39)	Q123R	possibly damaging	Het
Galns	A	G	8: 123,311,693 (GRCm39)	I439T	possibly damaging	Het
Gm57858	A	T	3: 36,079,506 (GRCm39)	S261R	possibly damaging	Het
Hcrtr1	A	G	4: 130,029,478 (GRCm39)	V201A	possibly damaging	Het
Ildr2	T	A	1: 166,135,361 (GRCm39)	M371K	probably benign	Het
Kalrn	G	A	16: 34,134,582 (GRCm39)	T412I	possibly damaging	Het
Kdm5b	C	T	1: 134,552,656 (GRCm39)	Q1211*	probably null	Het
Loxhd1	T	C	18: 77,517,671 (GRCm39)	S1840P	possibly damaging	Het
Maml2	A	G	9: 13,617,781 (GRCm39)	M376V	probably benign	Het
Mgat4e	T	C	1: 134,469,745 (GRCm39)	T100A	probably damaging	Het
Myo18b	T	A	5: 113,013,168 (GRCm39)	T812S	possibly damaging	Het
Nanp	T	A	2: 150,881,158 (GRCm39)	E30V	probably null	Het
Or2w1b	G	T	13: 21,300,217 (GRCm39)	M118I	probably damaging	Het
Or4c107	T	G	2: 88,788,849 (GRCm39)	L13R	probably damaging	Het
Or5ac21	A	T	16: 59,123,990 (GRCm39)	H158L	probably damaging	Het
Parp3	T	A	9: 106,351,393 (GRCm39)	N241I	probably benign	Het
Piezo2	T	C	18: 63,175,610 (GRCm39)	N1924D	probably benign	Het
Pou1f1	A	G	16: 65,326,811 (GRCm39)	N137S	probably damaging	Het
Ptgdr	A	G	14: 45,096,094 (GRCm39)	M206T	probably damaging	Het
Ptprd	T	C	4: 76,004,696 (GRCm39)	T20A	probably benign	Het
Rexo1	G	C	10: 80,385,497 (GRCm39)	S520R	probably benign	Het
Sgip1	T	A	4: 102,727,005 (GRCm39)	S94T	probably benign	Het
Slc35e3	A	G	10: 117,576,785 (GRCm39)	V182A	probably benign	Het
Slfn2	A	G	11: 82,961,089 (GRCm39)	E356G	probably damaging	Het
Spry4	C	A	18: 38,722,982 (GRCm39)	K260N	probably damaging	Het
Sync	A	T	4: 129,187,375 (GRCm39)	M136L	probably benign	Het
Tm7sf2	A	G	19: 6,120,638 (GRCm39)	V425A	probably benign	Het
Trim21	T	A	7: 102,208,742 (GRCm39)	M326L	probably benign	Het
Trim62	A	G	4: 128,790,677 (GRCm39)	Q158R	probably benign	Het
Tubgcp2	T	A	7: 139,580,964 (GRCm39)	K663M	probably damaging	Het
Uggt1	T	C	1: 36,202,316 (GRCm39)	I1094V	probably damaging	Het
Urb1	A	G	16: 90,594,798 (GRCm39)	S245P	probably damaging	Het
Vwa3a	A	T	7: 120,351,838 (GRCm39)	D34V	probably null	Het
Zbtb45	C	T	7: 12,741,326 (GRCm39)	A311T	possibly damaging	Het
Zfp655	T	C	5: 145,173,999 (GRCm39)	S135P	unknown	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
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
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'- ACCACCTAGACACAGTTGGG -3'
(R):5'- TGGCTTCTAAGATTCCTGCC -3'

Sequencing Primer
(F):5'- CACCTAGACACAGTTGGGAGTGC -3'
(R):5'- CTGCCATTACTATGTGTCCAAGTAGG -3'

Posted On

2019-10-24