Mutagenetix > Incidental Mutation

Incidental Mutation 'R0396:Gsdme'

32034

Institutional Source

Beutler Lab

Gene Symbol

Gsdme

Ensembl Gene

ENSMUSG00000029821

Gene Name

gasdermin E

Synonyms

4932441K13Rik, Dfna5h, Dfna5, Fin15, 2310037D07Rik

MMRRC Submission

038602-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0396 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

50188888-50263862 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50221107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 291 (H291L)

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: H291L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031845
Gene: ENSMUSG00000029821
AA Change: H291L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000101405
AA Change: H291L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000098952
Gene: ENSMUSG00000029821
AA Change: H291L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000165099
AA Change: H291L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130522
Gene: ENSMUSG00000029821
AA Change: H291L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170142
AA Change: H291L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126759
Gene: ENSMUSG00000029821
AA Change: H291L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 89.8%

Validation Efficiency

92% (96/104)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,268,377 (GRCm38)	V467A	possibly damaging	Het
4933405L10Rik	G	A	8: 105,709,780 (GRCm38)	V194I	probably benign	Het
Acsm1	A	T	7: 119,636,455 (GRCm38)	I133F	probably damaging	Het
Adamts9	T	A	6: 92,798,005 (GRCm38)	T1676S	probably benign	Het
Adcy4	T	C	14: 55,772,288 (GRCm38)	D769G	probably benign	Het
Aif1	T	C	17: 35,171,109 (GRCm38)	*148W	probably null	Het
Akna	C	T	4: 63,392,126 (GRCm38)		probably benign	Het
Arhgap32	G	A	9: 32,245,255 (GRCm38)		probably null	Het
Atpaf1	G	A	4: 115,785,252 (GRCm38)	E92K	possibly damaging	Het
C1s1	T	C	6: 124,533,354 (GRCm38)	E378G	probably benign	Het
Caprin1	T	A	2: 103,769,569 (GRCm38)	Q108L	probably damaging	Het
Car13	A	T	3: 14,656,239 (GRCm38)	H154L	probably benign	Het
Cdon	C	A	9: 35,470,130 (GRCm38)	N605K	probably damaging	Het
Ceacam10	G	A	7: 24,781,014 (GRCm38)	G70E	probably damaging	Het
Cfap221	G	A	1: 119,954,200 (GRCm38)	T286M	probably benign	Het
Cfap61	T	C	2: 145,949,944 (GRCm38)	F107S	possibly damaging	Het
Coil	C	A	11: 88,981,623 (GRCm38)	T270N	probably benign	Het
Crocc2	T	G	1: 93,224,214 (GRCm38)		probably benign	Het
Crot	T	C	5: 8,969,959 (GRCm38)	E461G	probably damaging	Het
D130052B06Rik	G	T	11: 33,623,391 (GRCm38)	R41L	unknown	Het
D630045J12Rik	T	C	6: 38,196,736 (GRCm38)	S166G	possibly damaging	Het
Dennd4a	T	G	9: 64,862,391 (GRCm38)	V460G	probably damaging	Het
Depdc7	A	T	2: 104,727,323 (GRCm38)		probably benign	Het
Dgkb	G	A	12: 38,190,135 (GRCm38)		probably null	Het
Dhx57	T	G	17: 80,274,797 (GRCm38)	S407R	probably benign	Het
Dnase2a	G	T	8: 84,909,763 (GRCm38)		probably benign	Het
Dqx1	T	G	6: 83,059,005 (GRCm38)	M106R	probably benign	Het
Eno1b	T	C	18: 48,047,739 (GRCm38)	I328T	probably benign	Het
Ephx2	T	G	14: 66,108,063 (GRCm38)	I151L	probably benign	Het
Gdf3	C	T	6: 122,607,135 (GRCm38)	G91D	probably damaging	Het
Gm14124	G	A	2: 150,268,053 (GRCm38)	G221D	probably damaging	Het
Gpc5	T	A	14: 115,428,208 (GRCm38)	N481K	possibly damaging	Het
H2-Bl	A	G	17: 36,083,722 (GRCm38)	I103T	possibly damaging	Het
Hif3a	G	A	7: 17,052,021 (GRCm38)		probably benign	Het
Hmox2	A	T	16: 4,765,763 (GRCm38)	I232L	probably benign	Het
Itgb2	A	G	10: 77,561,189 (GRCm38)	Y686C	probably damaging	Het
Jmjd1c	A	G	10: 67,219,523 (GRCm38)	T528A	possibly damaging	Het
Kdr	T	C	5: 75,960,728 (GRCm38)	I541V	possibly damaging	Het
Khdrbs2	C	A	1: 32,519,973 (GRCm38)	V343L	probably damaging	Het
Kif16b	C	T	2: 142,853,659 (GRCm38)	R175H	probably damaging	Het
Klri2	T	G	6: 129,740,288 (GRCm38)	E44A	possibly damaging	Het
Kmt2b	G	T	7: 30,576,755 (GRCm38)	T1773K	probably damaging	Het
Lair1	A	G	7: 4,010,786 (GRCm38)	L154P	probably damaging	Het
Larp1b	G	A	3: 40,970,561 (GRCm38)	V158M	probably damaging	Het
Lgi3	T	A	14: 70,534,840 (GRCm38)	I275N	probably damaging	Het
Lrba	A	G	3: 86,295,179 (GRCm38)	N246D	probably damaging	Het
Lrrc45	T	A	11: 120,714,907 (GRCm38)		probably benign	Het
Mdh2	G	T	5: 135,789,679 (GRCm38)	V263L	probably benign	Het
Myom1	T	A	17: 71,034,693 (GRCm38)	V149E	probably damaging	Het
Nanos1	A	T	19: 60,757,041 (GRCm38)	D259V	probably damaging	Het
Nedd4l	T	A	18: 65,161,654 (GRCm38)		probably benign	Het
Npas3	A	G	12: 53,831,745 (GRCm38)	Y150C	probably damaging	Het
Olfr1066	T	C	2: 86,456,019 (GRCm38)	N84S	possibly damaging	Het
Olfr1129	T	A	2: 87,575,567 (GRCm38)	V161D	possibly damaging	Het
Olfr1392	A	T	11: 49,293,338 (GRCm38)	I6F	probably benign	Het
Olfr479	A	T	7: 108,055,963 (GRCm38)	H327L	probably benign	Het
Olfr672	G	A	7: 104,996,706 (GRCm38)	A66V	probably damaging	Het
Olfr93	C	T	17: 37,151,555 (GRCm38)	C139Y	probably damaging	Het
Pde4c	A	G	8: 70,750,076 (GRCm38)	N637S	probably benign	Het
Pds5b	T	A	5: 150,779,275 (GRCm38)	V824D	possibly damaging	Het
Pole2	A	T	12: 69,222,386 (GRCm38)		probably benign	Het
Ppig	C	T	2: 69,735,976 (GRCm38)		probably benign	Het
Prep	A	G	10: 45,092,676 (GRCm38)	Y90C	probably damaging	Het
Proca1	A	T	11: 78,194,905 (GRCm38)	R11S	probably damaging	Het
Prph	T	A	15: 99,056,991 (GRCm38)	W313R	probably benign	Het
Prune2	C	T	19: 17,123,080 (GRCm38)	P1983S	probably benign	Het
Ptbp2	G	A	3: 119,724,198 (GRCm38)		probably benign	Het
Rsph6a	C	T	7: 19,074,106 (GRCm38)	P398L	probably damaging	Het
Sdk2	T	C	11: 113,829,967 (GRCm38)	I1379V	probably benign	Het
Sf3b1	C	T	1: 55,019,271 (GRCm38)	G53E	probably damaging	Het
Slc9a3	T	C	13: 74,157,784 (GRCm38)		probably null	Het
Smarcal1	A	T	1: 72,626,473 (GRCm38)	H710L	probably benign	Het
Soat2	GAGAAG	GAG	15: 102,150,707 (GRCm38)		probably benign	Het
Sptan1	T	C	2: 29,991,033 (GRCm38)	V438A	probably damaging	Het
Sstr4	T	A	2: 148,396,261 (GRCm38)	V264D	probably damaging	Het
Susd2	A	G	10: 75,639,911 (GRCm38)	L418P	probably damaging	Het
Synj1	A	G	16: 90,938,640 (GRCm38)	V1475A	probably benign	Het
Szt2	G	A	4: 118,376,347 (GRCm38)		probably benign	Het
Tbc1d4	T	C	14: 101,458,063 (GRCm38)		probably null	Het
Tesk1	A	G	4: 43,446,000 (GRCm38)	E311G	probably damaging	Het
Tmed5	A	T	5: 108,126,016 (GRCm38)	V119E	probably damaging	Het
Tmem260	T	C	14: 48,486,867 (GRCm38)	S201P	possibly damaging	Het
Tnxb	A	G	17: 34,671,733 (GRCm38)	Y350C	probably damaging	Het
Tpte	T	C	8: 22,335,608 (GRCm38)		probably benign	Het
Trim37	A	T	11: 87,146,968 (GRCm38)	D161V	probably damaging	Het
Trrap	C	A	5: 144,814,556 (GRCm38)	Q1640K	probably damaging	Het
Tspoap1	T	C	11: 87,776,346 (GRCm38)		probably benign	Het
Ttk	T	A	9: 83,847,260 (GRCm38)		probably benign	Het
Vmn1r172	A	G	7: 23,660,532 (GRCm38)	S281G	probably benign	Het
Vmn1r177	A	G	7: 23,865,597 (GRCm38)	S285P	probably damaging	Het
Vmn1r231	C	T	17: 20,890,399 (GRCm38)	V85I	probably damaging	Het
Vmn2r100	C	A	17: 19,522,120 (GRCm38)	P252Q	possibly damaging	Het
Vmn2r118	T	C	17: 55,608,643 (GRCm38)	I436V	probably benign	Het
Vmn2r12	T	C	5: 109,092,899 (GRCm38)	K116R	probably benign	Het
Vmn2r28	T	A	7: 5,488,514 (GRCm38)	I245L	probably benign	Het
Wdr26	A	T	1: 181,180,651 (GRCm38)		probably benign	Het
Xrcc3	A	T	12: 111,809,957 (GRCm38)	H67Q	probably benign	Het
Zbbx	A	T	3: 75,078,495 (GRCm38)	S417T	possibly damaging	Het
Zc3h13	A	G	14: 75,323,482 (GRCm38)	D504G	unknown	Het
Zfp217	C	T	2: 170,115,462 (GRCm38)	A539T	probably benign	Het
Zyg11b	A	T	4: 108,255,308 (GRCm38)	F388I	probably 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
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
R5975:Gsdme	UTSW	6	50,227,359 (GRCm38)	missense	probably benign	0.30
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'- AAAACCTGTCCTGAGGGGTCTAGC -3'
(R):5'- AAGCCATGCTTGCCATGAATGC -3'

Sequencing Primer
(F):5'- AGGGGTCTAGCCTGTGC -3'
(R):5'- ATGTCAAAGTGGACTTCCCTG -3'

Posted On

2013-04-24