Mutagenetix > Incidental Mutation

Incidental Mutation 'R2114:Gsdma'

232949

Institutional Source

Beutler Lab

Gene Symbol

Gsdma

Ensembl Gene

ENSMUSG00000017204

Gene Name

gasdermin A

Synonyms

Gsdm1, H312E, Gsdm, Gsdma1

MMRRC Submission

040118-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R2114 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98664351-98677708 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98673012 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 264 (E264V)

Ref Sequence

ENSEMBL: ENSMUSP00000017348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017348]

AlphaFold

Q9EST1

Predicted Effect

probably damaging
Transcript: ENSMUST00000017348
AA Change: E264V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000017348
Gene: ENSMUSG00000017204
AA Change: E264V

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	3	421	2.2e-147	PFAM
low complexity region	429	443	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	G	2: 155,047,729 (GRCm38)	R72G	probably benign	Het
Adgrb1	T	A	15: 74,540,562 (GRCm38)		probably null	Het
Akr1b7	G	A	6: 34,418,994 (GRCm38)	A144T	possibly damaging	Het
Anapc5	C	T	5: 122,787,938 (GRCm38)	V685I	probably benign	Het
Apba3	T	C	10: 81,273,112 (GRCm38)	Y570H	probably damaging	Het
Arf5	C	T	6: 28,424,784 (GRCm38)	Q71*	probably null	Het
Arl15	C	T	13: 113,967,660 (GRCm38)	S111F	probably damaging	Het
Ash1l	C	T	3: 88,983,264 (GRCm38)	L817F	probably benign	Het
Auh	G	A	13: 52,835,496 (GRCm38)	P308L	probably benign	Het
Blvra	G	T	2: 127,086,069 (GRCm38)	E80*	probably null	Het
Bmp10	A	C	6: 87,434,459 (GRCm38)	E411D	probably benign	Het
Ccdc148	T	C	2: 59,002,116 (GRCm38)	E188G	probably damaging	Het
Ces1a	A	G	8: 93,039,551 (GRCm38)	L145P	possibly damaging	Het
Chsy3	G	A	18: 59,179,489 (GRCm38)	V345I	probably damaging	Het
Ckmt2	T	A	13: 91,855,845 (GRCm38)	I345F	probably benign	Het
Col5a2	T	A	1: 45,376,804 (GRCm38)	E1394D	probably damaging	Het
Dnah6	T	C	6: 73,144,035 (GRCm38)	N1492S	probably damaging	Het
Dock3	T	C	9: 106,993,544 (GRCm38)	N557S	probably benign	Het
Edem2	G	A	2: 155,702,559 (GRCm38)	R424C	probably damaging	Het
Exoc4	T	A	6: 33,347,825 (GRCm38)	N351K	possibly damaging	Het
Eya1	A	T	1: 14,270,774 (GRCm38)	F163I	probably damaging	Het
Ezh1	A	C	11: 101,208,185 (GRCm38)	S290A	probably benign	Het
Fam83f	T	G	15: 80,692,267 (GRCm38)	V373G	possibly damaging	Het
Fam83h	A	T	15: 76,002,297 (GRCm38)	Y1064N	probably damaging	Het
Fat4	A	T	3: 38,981,484 (GRCm38)	H3095L	probably benign	Het
Fbxo38	A	C	18: 62,506,640 (GRCm38)	I1051S	possibly damaging	Het
Galnt6	G	C	15: 100,714,241 (GRCm38)	C173W	probably damaging	Het
Gcc2	T	A	10: 58,269,540 (GRCm38)	C99*	probably null	Het
Gcn1l1	A	T	5: 115,598,825 (GRCm38)	M1276L	probably benign	Het
Gm14124	T	A	2: 150,267,899 (GRCm38)	C170S	unknown	Het
Gm266	T	G	12: 111,485,682 (GRCm38)	Q30P	possibly damaging	Het
Ift74	A	G	4: 94,627,259 (GRCm38)	T138A	probably benign	Het
Ikzf1	T	G	11: 11,769,473 (GRCm38)	H480Q	probably damaging	Het
Ints14	T	G	9: 64,979,795 (GRCm38)	L336R	probably damaging	Het
Irak1	G	T	X: 74,022,612 (GRCm38)	P197Q	possibly damaging	Het
Kcna6	A	G	6: 126,739,359 (GRCm38)	V189A	possibly damaging	Het
Kcnh4	A	G	11: 100,759,595 (GRCm38)	M4T	probably damaging	Het
Kif4	A	G	X: 100,665,717 (GRCm38)	S315G	probably benign	Het
L3mbtl1	T	A	2: 162,960,070 (GRCm38)		probably null	Het
Lrwd1	T	A	5: 136,130,478 (GRCm38)	Y431F	probably damaging	Het
Madd	A	G	2: 91,164,022 (GRCm38)	V884A	probably damaging	Het
Maz	C	A	7: 127,025,505 (GRCm38)	C281F	probably damaging	Het
Mb	G	T	15: 77,022,559 (GRCm38)	Q9K	probably benign	Het
Mllt10	A	G	2: 18,162,569 (GRCm38)	N435S	probably benign	Het
Mrm3	T	C	11: 76,244,521 (GRCm38)	M186T	possibly damaging	Het
Naprt	T	C	15: 75,891,788 (GRCm38)	Y395C	probably damaging	Het
Nccrp1	T	A	7: 28,546,909 (GRCm38)	Q76L	probably benign	Het
Nlgn1	T	A	3: 26,133,265 (GRCm38)	N157I	probably damaging	Het
Nmi	T	C	2: 51,948,707 (GRCm38)	T272A	probably benign	Het
Obscn	C	T	11: 59,131,658 (GRCm38)	V754M	probably damaging	Het
Pcdhb12	A	G	18: 37,436,212 (GRCm38)	E137G	probably damaging	Het
Pdk2	A	G	11: 95,027,262 (GRCm38)	Y382H	probably damaging	Het
Phka1	C	T	X: 102,610,201 (GRCm38)	R290H	probably damaging	Het
Pick1	T	A	15: 79,255,581 (GRCm38)		probably benign	Het
Pik3r2	T	C	8: 70,769,385 (GRCm38)	I585V	probably benign	Het
Pitrm1	A	T	13: 6,557,773 (GRCm38)	Y268F	probably damaging	Het
Polr2b	G	A	5: 77,320,970 (GRCm38)	E198K	probably damaging	Het
Prelid3b	T	C	2: 174,469,450 (GRCm38)	N9D	probably damaging	Het
Prex2	T	A	1: 11,186,713 (GRCm38)	N1216K	probably damaging	Het
Prkab2	A	T	3: 97,667,395 (GRCm38)	M236L	possibly damaging	Het
Prkar2b	T	A	12: 31,967,280 (GRCm38)	N257I	probably damaging	Het
Prkcd	A	G	14: 30,605,851 (GRCm38)	C208R	probably damaging	Het
Prkch	T	A	12: 73,702,516 (GRCm38)	S347T	probably benign	Het
Prr12	A	G	7: 45,046,082 (GRCm38)	V1320A	unknown	Het
Ptk2	A	G	15: 73,242,406 (GRCm38)	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,539,735 (GRCm38)	R372L	probably damaging	Het
Ptx3	T	A	3: 66,224,766 (GRCm38)	I236N	probably damaging	Het
Ralgapa1	T	C	12: 55,786,349 (GRCm38)		probably null	Het
Rgr	T	A	14: 37,038,852 (GRCm38)		probably null	Het
Rgs7	T	A	1: 175,091,073 (GRCm38)	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,817,549 (GRCm38)	M629L	probably benign	Het
Rpgrip1	A	T	14: 52,149,567 (GRCm38)	E781V	probably benign	Het
Rrh	T	C	3: 129,810,687 (GRCm38)	I288M	probably damaging	Het
Rtf1	T	A	2: 119,705,518 (GRCm38)	H184Q	probably benign	Het
Rusc1	T	C	3: 89,091,707 (GRCm38)	D256G	probably benign	Het
Scap	T	C	9: 110,381,273 (GRCm38)	Y917H	probably damaging	Het
Scn9a	T	C	2: 66,484,052 (GRCm38)	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,800,649 (GRCm38)	T9S	probably benign	Het
Slc24a2	C	T	4: 86,991,355 (GRCm38)	V664I	probably benign	Het
Stim2	A	G	5: 54,104,477 (GRCm38)	Q237R	probably damaging	Het
Synpo2	T	A	3: 123,079,888 (GRCm38)	H1143L	probably benign	Het
Syt4	A	G	18: 31,440,467 (GRCm38)	Y332H	probably damaging	Het
Tcf23	G	A	5: 30,973,575 (GRCm38)	D186N	probably benign	Het
Tcf3	C	A	10: 80,410,206 (GRCm38)	G628W	probably damaging	Het
Tcof1	T	C	18: 60,832,785 (GRCm38)	E415G	possibly damaging	Het
Tlr5	T	C	1: 182,975,629 (GRCm38)	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,622,551 (GRCm38)	E92G	probably damaging	Het
Ttn	A	T	2: 76,747,008 (GRCm38)	S24514T	probably damaging	Het
Txndc16	T	C	14: 45,145,027 (GRCm38)	E587G	probably benign	Het
Ubr4	A	T	4: 139,429,611 (GRCm38)	K2316*	probably null	Het
Usp20	T	A	2: 31,016,305 (GRCm38)	C562S	probably damaging	Het
Vat1	A	T	11: 101,465,742 (GRCm38)	V131E	probably damaging	Het
Vgll1	A	C	X: 57,092,430 (GRCm38)	K53T	probably damaging	Het
Zfp592	G	A	7: 81,024,796 (GRCm38)	V503M	probably damaging	Het
Zfp786	A	G	6: 47,826,997 (GRCm38)	V37A	probably damaging	Het
Zscan30	A	G	18: 23,971,116 (GRCm38)		noncoding transcript	Het

Other mutations in Gsdma

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01650:Gsdma	APN	11	98,673,687 (GRCm38)	missense	probably damaging	0.98
IGL02573:Gsdma	APN	11	98,670,751 (GRCm38)	splice site	probably benign
IGL03005:Gsdma	APN	11	98,676,259 (GRCm38)	missense	probably damaging	0.97
R0143:Gsdma	UTSW	11	98,666,254 (GRCm38)	missense	probably damaging	0.96
R1337:Gsdma	UTSW	11	98,669,707 (GRCm38)	nonsense	probably null
R1533:Gsdma	UTSW	11	98,676,384 (GRCm38)	missense	unknown
R1605:Gsdma	UTSW	11	98,666,493 (GRCm38)	missense	probably damaging	0.98
R1929:Gsdma	UTSW	11	98,671,367 (GRCm38)	critical splice donor site	probably null
R1998:Gsdma	UTSW	11	98,673,694 (GRCm38)	missense	probably damaging	0.99
R2043:Gsdma	UTSW	11	98,666,220 (GRCm38)	missense	possibly damaging	0.94
R3404:Gsdma	UTSW	11	98,673,138 (GRCm38)	splice site	probably benign
R3405:Gsdma	UTSW	11	98,673,138 (GRCm38)	splice site	probably benign
R3406:Gsdma	UTSW	11	98,673,138 (GRCm38)	splice site	probably benign
R3711:Gsdma	UTSW	11	98,666,219 (GRCm38)	nonsense	probably null
R3764:Gsdma	UTSW	11	98,670,767 (GRCm38)	missense	probably damaging	0.98
R4656:Gsdma	UTSW	11	98,673,081 (GRCm38)	missense	probably damaging	1.00
R5384:Gsdma	UTSW	11	98,666,449 (GRCm38)	critical splice acceptor site	probably null
R5943:Gsdma	UTSW	11	98,673,026 (GRCm38)	missense	probably benign	0.30
R7620:Gsdma	UTSW	11	98,666,603 (GRCm38)	missense	probably benign	0.06
R8340:Gsdma	UTSW	11	98,666,595 (GRCm38)	missense	probably benign	0.07
R9349:Gsdma	UTSW	11	98,675,945 (GRCm38)	missense	probably benign	0.36
R9736:Gsdma	UTSW	11	98,676,343 (GRCm38)	missense	probably damaging	1.00
X0017:Gsdma	UTSW	11	98,666,270 (GRCm38)	critical splice donor site	probably benign
Z1176:Gsdma	UTSW	11	98,669,759 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCGAGATGCAGGATTGTG -3'
(R):5'- ATTCCGCAGCCTTTGGTCAC -3'

Sequencing Primer
(F):5'- TAACGGTAGTGAGATTAACTGTCG -3'
(R):5'- GCAGCCTTTGGTCACTGTGC -3'

Posted On

2014-09-18