Mutagenetix > Incidental Mutation

Incidental Mutation 'R7720:Gsdme'

595168

Institutional Source

Beutler Lab

Gene Symbol

Gsdme

Ensembl Gene

ENSMUSG00000029821

Gene Name

gasdermin E

Synonyms

4932441K13Rik, Dfna5h, Dfna5, Fin15, 2310037D07Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50188888-50263862 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 50229308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 185 (G185E)

Ref Sequence

ENSEMBL: ENSMUSP00000031845 (fasta)

Gene Model

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

AlphaFold

Q9Z2D3

Predicted Effect

probably damaging
Transcript: ENSMUST00000031845
AA Change: G185E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031845
Gene: ENSMUSG00000029821
AA Change: G185E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000101405
AA Change: G185E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098952
Gene: ENSMUSG00000029821
AA Change: G185E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165099
AA Change: G185E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130522
Gene: ENSMUSG00000029821
AA Change: G185E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170142
AA Change: G185E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126759
Gene: ENSMUSG00000029821
AA Change: G185E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	A	16: 8,843,102	C148S	probably damaging	Het
4921530L21Rik	A	G	14: 95,882,112	R102G	probably benign	Het
A230050P20Rik	C	T	9: 20,868,859		probably benign	Het
Agap2	A	G	10: 127,091,088	D1018G	probably damaging	Het
Atm	T	C	9: 53,522,239	N237S	possibly damaging	Het
Card6	G	T	15: 5,098,423	Q1164K	unknown	Het
Cped1	G	A	6: 22,222,431	C730Y	probably damaging	Het
Csmd1	A	T	8: 15,931,108	L2770Q	probably damaging	Het
Ctsw	T	C	19: 5,467,044	T87A	probably damaging	Het
Dock4	T	C	12: 40,806,975	I1269T	probably damaging	Het
F11	T	C	8: 45,252,090	E138G	possibly damaging	Het
Fam124b	A	G	1: 80,200,257	S342P	probably damaging	Het
Fam71d	T	C	12: 78,712,133	S76P	probably damaging	Het
Gipr	T	C	7: 19,162,959	I129V	probably benign	Het
Gm5415	T	C	1: 32,546,097	D244G	probably benign	Het
Gria4	A	T	9: 4,464,288	V558D	probably damaging	Het
Hgd	T	A	16: 37,593,435	D86E	probably benign	Het
Hmcn1	T	A	1: 150,646,709	H3480L	probably benign	Het
Hs2st1	T	C	3: 144,454,022	N127D	probably damaging	Het
Ilf3	A	G	9: 21,399,537	N599S	possibly damaging	Het
Itsn1	G	A	16: 91,868,083	G1132R	unknown	Het
Jakmip2	A	G	18: 43,571,908	S343P	possibly damaging	Het
Kif1b	A	G	4: 149,182,355	V1670A	probably benign	Het
Lman2	A	T	13: 55,353,077		probably null	Het
Ltbp1	A	T	17: 75,385,124	Y1579F	probably damaging	Het
Mon2	G	A	10: 123,032,588	A520V	probably benign	Het
Mrpl10	T	G	11: 97,047,537	V171G	possibly damaging	Het
Mrps27	A	T	13: 99,401,330	T153S	unknown	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Nlrp10	A	G	7: 108,924,488	V595A	probably benign	Het
Nol4	A	T	18: 23,040,023	M7K	probably benign	Het
Oasl1	G	A	5: 114,929,921	S188N	probably damaging	Het
Olfr193	T	C	16: 59,109,771	I280V	probably benign	Het
Olfr709-ps1	C	A	7: 106,927,411	G16V	probably benign	Het
Pcdhga2	A	G	18: 37,669,940	Y279C	probably damaging	Het
Pfpl	C	T	19: 12,429,174	A263V	probably benign	Het
Phf3	T	G	1: 30,829,857	K703N	probably damaging	Het
Pik3ca	C	G	3: 32,436,218	P5A	probably damaging	Het
Plekha6	T	C	1: 133,293,707	V987A	probably damaging	Het
Ppp3ca	T	A	3: 136,890,489	I305N	probably damaging	Het
Prex2	A	G	1: 11,181,937	K1069E	possibly damaging	Het
Prss50	T	C	9: 110,861,335	V182A	probably damaging	Het
Ptprg	A	G	14: 12,211,703	N995S	probably benign	Het
Robo2	C	A	16: 73,897,015	G1375V	probably benign	Het
Rtl1	T	C	12: 109,594,430	Y325C	possibly damaging	Het
Shcbp1	A	C	8: 4,748,720	S400A	probably damaging	Het
Sirpb1c	T	A	3: 15,832,072	Y380F	probably benign	Het
Tbl2	G	C	5: 135,159,475	L374F	probably damaging	Het
Tpr	C	A	1: 150,429,532	A1524E	possibly damaging	Het
Vmn2r45	T	A	7: 8,483,461	E276V	probably damaging	Het
Vps16	C	T	2: 130,441,703	Q606*	probably null	Het
Vstm5	A	T	9: 15,239,356	Q29L	probably benign	Het
Wipi1	G	T	11: 109,582,423	S250Y	probably damaging	Het

Other mutations in Gsdme

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Gsdme	APN	6	50229284	critical splice donor site	probably null
IGL01462:Gsdme	APN	6	50227374	missense	possibly damaging	0.94
IGL01645:Gsdme	APN	6	50251336	missense	probably damaging	1.00
IGL01836:Gsdme	APN	6	50222789	missense	probably damaging	1.00
R0060:Gsdme	UTSW	6	50221029	missense	possibly damaging	0.73
R0060:Gsdme	UTSW	6	50221029	missense	possibly damaging	0.73
R0110:Gsdme	UTSW	6	50246127	splice site	probably benign
R0396:Gsdme	UTSW	6	50221107	missense	probably benign	0.00
R0510:Gsdme	UTSW	6	50246127	splice site	probably benign
R0627:Gsdme	UTSW	6	50229279	splice site	probably benign
R1350:Gsdme	UTSW	6	50246128	splice site	probably null
R1992:Gsdme	UTSW	6	50208122	missense	probably damaging	1.00
R2869:Gsdme	UTSW	6	50208177	nonsense	probably null
R2869:Gsdme	UTSW	6	50208177	nonsense	probably null
R2973:Gsdme	UTSW	6	50229324	missense	probably damaging	1.00
R2974:Gsdme	UTSW	6	50229324	missense	probably damaging	1.00
R3154:Gsdme	UTSW	6	50251363	missense	probably damaging	0.99
R3816:Gsdme	UTSW	6	50219411	missense	probably benign	0.41
R3818:Gsdme	UTSW	6	50219411	missense	probably benign	0.41
R3819:Gsdme	UTSW	6	50219411	missense	probably benign	0.41
R4035:Gsdme	UTSW	6	50229448	missense	possibly damaging	0.50
R4519:Gsdme	UTSW	6	50229353	missense	probably damaging	1.00
R4669:Gsdme	UTSW	6	50208122	missense	probably damaging	1.00
R4678:Gsdme	UTSW	6	50229324	missense	possibly damaging	0.87
R5009:Gsdme	UTSW	6	50246012	missense	possibly damaging	0.64
R5370:Gsdme	UTSW	6	50229306	missense	probably damaging	0.98
R5768:Gsdme	UTSW	6	50219300	nonsense	probably null
R5811:Gsdme	UTSW	6	50245945	missense	probably benign	0.02
R5975:Gsdme	UTSW	6	50227359	missense	probably benign	0.30
R6032:Gsdme	UTSW	6	50245954	missense	probably damaging	1.00
R6032:Gsdme	UTSW	6	50245954	missense	probably damaging	1.00
R6035:Gsdme	UTSW	6	50229326	missense	probably damaging	0.99
R6035:Gsdme	UTSW	6	50229326	missense	probably damaging	0.99
R6089:Gsdme	UTSW	6	50251305	missense	probably damaging	0.99
R6565:Gsdme	UTSW	6	50229449	missense	probably damaging	0.97
R6862:Gsdme	UTSW	6	50227398	missense	probably damaging	1.00
R7169:Gsdme	UTSW	6	50227378	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTCACAGTATCTTCAAGCCCCG -3'
(R):5'- AAGGCACAGGGTTACTCATG -3'

Sequencing Primer
(F):5'- AGTATCTTCAAGCCCCGCAGTG -3'
(R):5'- CACAGGGTTACTCATGACCAATTTTC -3'

Posted On

2019-11-12