Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Gsdme'

471678

Institutional Source

Beutler Lab

Gene Symbol

Gsdme

Ensembl Gene

ENSMUSG00000029821

Gene Name

gasdermin E

Synonyms

4932441K13Rik, Dfna5h, Dfna5, Fin15, 2310037D07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5975 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

50188888-50263862 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50227359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 206 (N206S)

Ref Sequence

ENSEMBL: ENSMUSP00000126759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031845] [ENSMUST00000101405] [ENSMUST00000165099] [ENSMUST00000170142]

AlphaFold

Q9Z2D3

Predicted Effect

probably benign
Transcript: ENSMUST00000031845
AA Change: N206S

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000031845
Gene: ENSMUSG00000029821
AA Change: N206S

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	1	473	4.8e-167	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101405
AA Change: N206S

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000098952
Gene: ENSMUSG00000029821
AA Change: N206S

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	1	399	2e-126	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165099
AA Change: N206S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000130522
Gene: ENSMUSG00000029821
AA Change: N206S

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	1	424	1.7e-136	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170142
AA Change: N206S

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126759
Gene: ENSMUSG00000029821
AA Change: N206S

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	1	473	2.3e-149	PFAM

Meta Mutation Damage Score

0.1259

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display abnormal numbers of cochlear hair cell but have normal hearing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,969,221 (GRCm38)	T2233I	possibly damaging	Het
9430038I01Rik	T	C	7: 137,387,292 (GRCm38)		probably benign	Het
Abhd14a	A	T	9: 106,443,951 (GRCm38)		probably null	Het
Actn2	T	C	13: 12,340,497 (GRCm38)	N2D	probably benign	Het
Adcy9	T	C	16: 4,311,567 (GRCm38)	E722G	probably damaging	Het
Alox12	C	A	11: 70,242,783 (GRCm38)	V572L	possibly damaging	Het
Ankrd11	T	C	8: 122,889,749 (GRCm38)	I2434V	possibly damaging	Het
Anks1	T	A	17: 27,991,447 (GRCm38)		probably null	Het
Bpifa3	T	A	2: 154,136,321 (GRCm38)	S148T	probably damaging	Het
Bptf	C	T	11: 107,035,864 (GRCm38)		probably benign	Het
Cabin1	A	T	10: 75,657,839 (GRCm38)	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,827,235 (GRCm38)	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,117,478 (GRCm38)	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,470,619 (GRCm38)	G280E	probably benign	Het
Cdk11b	G	A	4: 155,648,240 (GRCm38)		probably benign	Het
Celsr1	G	T	15: 85,919,038 (GRCm38)		probably null	Het
Cenpj	A	T	14: 56,564,066 (GRCm38)	I150N	possibly damaging	Het
Cep135	C	A	5: 76,640,890 (GRCm38)	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,146,626 (GRCm38)	H224N	probably damaging	Het
Cul5	T	C	9: 53,622,793 (GRCm38)	R680G	probably damaging	Het
Dhx58	C	A	11: 100,702,209 (GRCm38)	R224L	probably damaging	Het
Dlx1	C	A	2: 71,531,009 (GRCm38)	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,282 (GRCm38)	D279A	probably damaging	Het
Enpp3	A	G	10: 24,774,842 (GRCm38)	W799R	probably benign	Het
Ercc5	A	G	1: 44,173,406 (GRCm38)	T675A	probably benign	Het
Farsa	T	A	8: 84,864,432 (GRCm38)		probably null	Het
Fbxw15	A	T	9: 109,555,252 (GRCm38)	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,442,103 (GRCm38)	V62I	probably benign	Het
Gart	A	G	16: 91,624,336 (GRCm38)	S815P	probably damaging	Het
Glrx5	A	G	12: 105,040,323 (GRCm38)	N111S	possibly damaging	Het
Gm10845	A	G	14: 79,863,174 (GRCm38)		noncoding transcript	Het
Gm11639	A	G	11: 104,687,549 (GRCm38)		probably benign	Het
Gm8882	A	G	6: 132,362,073 (GRCm38)	S61P	unknown	Het
Gm9925	T	A	18: 74,065,516 (GRCm38)		probably benign	Het
Helz2	T	C	2: 181,231,050 (GRCm38)	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,754,359 (GRCm38)	S93P	possibly damaging	Het
Ints2	A	T	11: 86,226,748 (GRCm38)	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,905,128 (GRCm38)	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,570,321 (GRCm38)	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,892,470 (GRCm38)	I255N	probably benign	Het
Myh6	A	G	14: 54,950,508 (GRCm38)	I1163T	probably benign	Het
Nphs1	A	T	7: 30,466,115 (GRCm38)	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,500,788 (GRCm38)	L124Q	probably damaging	Het
Obscn	C	T	11: 59,122,619 (GRCm38)		probably null	Het
P4ha2	G	A	11: 54,126,412 (GRCm38)		probably null	Het
Pcdha9	T	A	18: 36,999,111 (GRCm38)	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,525,988 (GRCm38)	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,892,253 (GRCm38)	V106A	probably benign	Het
Plekhm1	A	T	11: 103,376,691 (GRCm38)	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,065,370 (GRCm38)		probably benign	Het
Prmt9	T	C	8: 77,561,018 (GRCm38)		probably benign	Het
Rab26	T	C	17: 24,530,399 (GRCm38)	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,429,580 (GRCm38)	S942P	probably damaging	Het
Scgb2b18	T	C	7: 33,173,225 (GRCm38)	T52A	probably damaging	Het
Syt3	C	T	7: 44,392,763 (GRCm38)	Q349*	probably null	Het
Tas2r107	T	C	6: 131,659,780 (GRCm38)	N102S	probably benign	Het
Tas2r126	T	A	6: 42,435,000 (GRCm38)	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,642,778 (GRCm38)	I105N	probably benign	Het
Tet1	A	C	10: 62,879,773 (GRCm38)	M81R	probably benign	Het
Togaram2	T	C	17: 71,729,205 (GRCm38)	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,314,271 (GRCm38)		noncoding transcript	Het
Ttn	G	A	2: 76,761,235 (GRCm38)	T12703I	probably damaging	Het
Unc79	A	G	12: 103,125,626 (GRCm38)	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,583,351 (GRCm38)	T372I	possibly damaging	Het
Wdr24	T	C	17: 25,827,128 (GRCm38)	S476P	probably benign	Het
Wdr78	G	A	4: 103,049,589 (GRCm38)	P676S	probably benign	Het
Zbtb1	T	C	12: 76,386,275 (GRCm38)	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,395,615 (GRCm38)	I29L	probably benign	Het
Zfp341	T	A	2: 154,630,441 (GRCm38)	C315S	probably damaging	Het
Zfp623	C	A	15: 75,948,163 (GRCm38)	R323S	probably benign	Het
Zfp831	T	A	2: 174,644,092 (GRCm38)	Y187N	possibly damaging	Het

Other mutations in Gsdme

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Gsdme	APN	6	50,229,284 (GRCm38)	critical splice donor site	probably null
IGL01462:Gsdme	APN	6	50,227,374 (GRCm38)	missense	possibly damaging	0.94
IGL01645:Gsdme	APN	6	50,251,336 (GRCm38)	missense	probably damaging	1.00
IGL01836:Gsdme	APN	6	50,222,789 (GRCm38)	missense	probably damaging	1.00
R0060:Gsdme	UTSW	6	50,221,029 (GRCm38)	missense	possibly damaging	0.73
R0060:Gsdme	UTSW	6	50,221,029 (GRCm38)	missense	possibly damaging	0.73
R0110:Gsdme	UTSW	6	50,246,127 (GRCm38)	splice site	probably benign
R0396:Gsdme	UTSW	6	50,221,107 (GRCm38)	missense	probably benign	0.00
R0510:Gsdme	UTSW	6	50,246,127 (GRCm38)	splice site	probably benign
R0627:Gsdme	UTSW	6	50,229,279 (GRCm38)	splice site	probably benign
R1350:Gsdme	UTSW	6	50,246,128 (GRCm38)	splice site	probably null
R1992:Gsdme	UTSW	6	50,208,122 (GRCm38)	missense	probably damaging	1.00
R2869:Gsdme	UTSW	6	50,208,177 (GRCm38)	nonsense	probably null
R2869:Gsdme	UTSW	6	50,208,177 (GRCm38)	nonsense	probably null
R2973:Gsdme	UTSW	6	50,229,324 (GRCm38)	missense	probably damaging	1.00
R2974:Gsdme	UTSW	6	50,229,324 (GRCm38)	missense	probably damaging	1.00
R3154:Gsdme	UTSW	6	50,251,363 (GRCm38)	missense	probably damaging	0.99
R3816:Gsdme	UTSW	6	50,219,411 (GRCm38)	missense	probably benign	0.41
R3818:Gsdme	UTSW	6	50,219,411 (GRCm38)	missense	probably benign	0.41
R3819:Gsdme	UTSW	6	50,219,411 (GRCm38)	missense	probably benign	0.41
R4035:Gsdme	UTSW	6	50,229,448 (GRCm38)	missense	possibly damaging	0.50
R4519:Gsdme	UTSW	6	50,229,353 (GRCm38)	missense	probably damaging	1.00
R4669:Gsdme	UTSW	6	50,208,122 (GRCm38)	missense	probably damaging	1.00
R4678:Gsdme	UTSW	6	50,229,324 (GRCm38)	missense	possibly damaging	0.87
R5009:Gsdme	UTSW	6	50,246,012 (GRCm38)	missense	possibly damaging	0.64
R5370:Gsdme	UTSW	6	50,229,306 (GRCm38)	missense	probably damaging	0.98
R5768:Gsdme	UTSW	6	50,219,300 (GRCm38)	nonsense	probably null
R5811:Gsdme	UTSW	6	50,245,945 (GRCm38)	missense	probably benign	0.02
R6032:Gsdme	UTSW	6	50,245,954 (GRCm38)	missense	probably damaging	1.00
R6032:Gsdme	UTSW	6	50,245,954 (GRCm38)	missense	probably damaging	1.00
R6035:Gsdme	UTSW	6	50,229,326 (GRCm38)	missense	probably damaging	0.99
R6035:Gsdme	UTSW	6	50,229,326 (GRCm38)	missense	probably damaging	0.99
R6089:Gsdme	UTSW	6	50,251,305 (GRCm38)	missense	probably damaging	0.99
R6565:Gsdme	UTSW	6	50,229,449 (GRCm38)	missense	probably damaging	0.97
R6862:Gsdme	UTSW	6	50,227,398 (GRCm38)	missense	probably damaging	1.00
R7169:Gsdme	UTSW	6	50,227,378 (GRCm38)	missense	probably benign	0.00
R7720:Gsdme	UTSW	6	50,229,308 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCCATGCTCAGTGACAC -3'
(R):5'- ATGCCACCCAATACTAGTGC -3'

Sequencing Primer
(F):5'- GGTGAATGAAGCCCCTGG -3'
(R):5'- CCAATACTAGTGCCAGCTGTC -3'

Posted On

2017-03-31