Mutagenetix > Incidental Mutation

Incidental Mutation 'R7053:Gsdma3'

547727

Institutional Source

Beutler Lab

Gene Symbol

Gsdma3

Ensembl Gene

ENSMUSG00000064224

Gene Name

gasdermin A3

Synonyms

Dfl, Bsk, Rim3, Gsdm3, Gsdm1l, Fgn, Rco2

MMRRC Submission

045150-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R7053 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98517186-98529052 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98520621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 84 (M84K)

Ref Sequence

ENSEMBL: ENSMUSP00000103132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073295] [ENSMUST00000104933] [ENSMUST00000107508]

AlphaFold

Q5Y4Y6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073295
AA Change: M84K

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000073022
Gene: ENSMUSG00000064224
AA Change: M84K

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	3	430	1.4e-132	PFAM
low complexity region	438	452	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000104933

SMART Domains

Protein: ENSMUSP00000100538
Gene: ENSMUSG00000078134

Domain	Start	End	E-Value	Type
RRM	10	78	7.02e-19	SMART
low complexity region	97	142	N/A	INTRINSIC
low complexity region	147	159	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107508
AA Change: M84K

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103132
Gene: ENSMUSG00000064224
AA Change: M84K

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	3	421	9.5e-134	PFAM
low complexity region	429	443	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mutations of this gene affect normal development of the hair follicle, resulting in abnormal coats. Some alleles are associated with corneal opacity and/or microphthalmia. For one allele, high rates of mutation are observed in the MHC that appear to be associated with intra-MHC recombination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	T	8: 44,021,836 (GRCm39)	C551*	probably null	Het
Aldh1l1	C	A	6: 90,540,420 (GRCm39)	T235K	possibly damaging	Het
Atp6v0a2	A	G	5: 124,783,923 (GRCm39)	E257G	probably damaging	Het
AW146154	A	G	7: 41,131,988 (GRCm39)		probably null	Het
BC048507	T	C	13: 68,011,772 (GRCm39)	Y50H	probably benign	Het
Brip1	T	C	11: 86,083,791 (GRCm39)	N77D	possibly damaging	Het
Ccdc13	T	C	9: 121,662,904 (GRCm39)	E37G	probably damaging	Het
Ccn6	A	G	10: 39,034,297 (GRCm39)	Y102H	probably damaging	Het
Col27a1	T	A	4: 63,251,404 (GRCm39)		probably benign	Het
Corin	T	A	5: 72,458,870 (GRCm39)	I960L	probably benign	Het
Csnk2b	A	G	17: 35,335,422 (GRCm39)		probably benign	Het
Cyp2d26	T	C	15: 82,676,801 (GRCm39)	S182G	probably benign	Het
Dennd1a	A	G	2: 37,851,666 (GRCm39)	L74P	probably damaging	Het
Dip2c	A	G	13: 9,660,740 (GRCm39)	D838G	probably damaging	Het
Dkkl1	G	T	7: 44,857,022 (GRCm39)	Q182K	probably damaging	Het
Dnai2	T	C	11: 114,629,521 (GRCm39)	S183P	probably damaging	Het
Dnhd1	T	C	7: 105,344,161 (GRCm39)	L1835P	probably damaging	Het
Espl1	T	C	15: 102,225,328 (GRCm39)		probably null	Het
Fam174a	C	T	1: 95,252,953 (GRCm39)	A185V	probably damaging	Het
Fhip1b	C	T	7: 105,033,779 (GRCm39)	G479D	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Grid2	G	T	6: 64,677,402 (GRCm39)	A74S	unknown	Het
Hlcs	A	T	16: 94,068,874 (GRCm39)	S262R	possibly damaging	Het
Lrp1	A	G	10: 127,376,963 (GRCm39)	C4205R	probably damaging	Het
Mdc1	C	T	17: 36,157,218 (GRCm39)	A181V	probably benign	Het
Mdga2	T	A	12: 66,736,158 (GRCm39)	I357F	probably benign	Het
Mfn1	A	G	3: 32,586,114 (GRCm39)	I21V	probably benign	Het
Mgat4b	C	T	11: 50,124,367 (GRCm39)	T409M	probably damaging	Het
Mgat4d	G	T	8: 84,098,261 (GRCm39)	K341N	probably damaging	Het
Mpo	A	T	11: 87,694,336 (GRCm39)	N109Y	probably damaging	Het
Mvp	T	C	7: 126,586,776 (GRCm39)	Q785R	possibly damaging	Het
Nim1k	A	G	13: 120,189,145 (GRCm39)	V88A	probably damaging	Het
Oasl2	A	T	5: 115,049,291 (GRCm39)	I464L	possibly damaging	Het
Or5m11b	G	T	2: 85,806,358 (GRCm39)	C257F	possibly damaging	Het
Pkd1l2	A	G	8: 117,740,681 (GRCm39)	F2139L	probably damaging	Het
Pop1	T	G	15: 34,530,421 (GRCm39)	S940A	probably benign	Het
Ppp1r9a	T	A	6: 4,905,670 (GRCm39)	M75K	probably damaging	Het
Prdm15	G	A	16: 97,595,742 (GRCm39)	Q1029*	probably null	Het
Rffl	T	C	11: 82,703,497 (GRCm39)	K142R	probably null	Het
Rhou	A	G	8: 124,380,934 (GRCm39)		probably benign	Het
Rp1l1	A	T	14: 64,268,958 (GRCm39)	T1515S	possibly damaging	Het
Serpina1b	T	A	12: 103,698,688 (GRCm39)	S54C	possibly damaging	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Taok3	T	A	5: 117,390,627 (GRCm39)	D529E	probably benign	Het
Tmem18	T	A	12: 30,634,506 (GRCm39)	M1K	probably null	Het
Tmem269	T	A	4: 119,066,464 (GRCm39)	H198L	probably damaging	Het
Tnrc18	A	G	5: 142,772,984 (GRCm39)	V432A	unknown	Het
Ttc6	A	T	12: 57,707,318 (GRCm39)	T742S	probably benign	Het
Uhrf2	T	A	19: 30,069,519 (GRCm39)	C749S	probably damaging	Het
Unc13c	G	A	9: 73,839,579 (GRCm39)	T424I	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r61	A	C	7: 41,916,557 (GRCm39)	D390A	probably damaging	Het
Xpo7	A	G	14: 70,922,298 (GRCm39)		probably null	Het
Zfp948	T	A	17: 21,805,121 (GRCm39)	L37*	probably null	Het

Other mutations in Gsdma3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Gsdma3	APN	11	98,528,398 (GRCm39)	missense	probably damaging	0.97
IGL01375:Gsdma3	APN	11	98,520,767 (GRCm39)	critical splice donor site	probably null
IGL01721:Gsdma3	APN	11	98,528,782 (GRCm39)	missense	possibly damaging	0.95
IGL02179:Gsdma3	APN	11	98,526,097 (GRCm39)	missense	possibly damaging	0.88
IGL02612:Gsdma3	APN	11	98,526,707 (GRCm39)	missense	probably damaging	0.99
IGL02866:Gsdma3	APN	11	98,520,585 (GRCm39)	missense	possibly damaging	0.88
IGL02970:Gsdma3	APN	11	98,523,819 (GRCm39)	missense	probably benign	0.01
Michelin	UTSW	11	98,528,399 (GRCm39)	missense	probably damaging	0.98
Mr_magoo	UTSW	11	98,526,745 (GRCm39)	missense	probably damaging	1.00
PIT4486001:Gsdma3	UTSW	11	98,528,880 (GRCm39)	missense	unknown
R0408:Gsdma3	UTSW	11	98,526,164 (GRCm39)	missense	probably benign	0.41
R0539:Gsdma3	UTSW	11	98,526,745 (GRCm39)	missense	probably damaging	1.00
R0675:Gsdma3	UTSW	11	98,522,017 (GRCm39)	missense	probably benign	0.03
R1329:Gsdma3	UTSW	11	98,523,218 (GRCm39)	missense	probably damaging	1.00
R1759:Gsdma3	UTSW	11	98,526,071 (GRCm39)	missense	possibly damaging	0.93
R1812:Gsdma3	UTSW	11	98,523,219 (GRCm39)	missense	probably damaging	0.99
R1838:Gsdma3	UTSW	11	98,520,684 (GRCm39)	missense	probably benign	0.19
R1839:Gsdma3	UTSW	11	98,520,684 (GRCm39)	missense	probably benign	0.19
R2287:Gsdma3	UTSW	11	98,528,830 (GRCm39)	missense	possibly damaging	0.83
R4883:Gsdma3	UTSW	11	98,520,393 (GRCm39)	critical splice donor site	probably null
R6767:Gsdma3	UTSW	11	98,528,710 (GRCm39)	missense	possibly damaging	0.93
R7733:Gsdma3	UTSW	11	98,526,041 (GRCm39)	missense	probably damaging	1.00
R8417:Gsdma3	UTSW	11	98,520,603 (GRCm39)	missense	probably benign	0.02
R8858:Gsdma3	UTSW	11	98,520,695 (GRCm39)	missense	probably benign	0.38
R8859:Gsdma3	UTSW	11	98,522,086 (GRCm39)	missense	possibly damaging	0.85
R9777:Gsdma3	UTSW	11	98,526,071 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTCTGAAGGATGCTGTG -3'
(R):5'- GTCTTATCTTGGCTTCCAATTGCA -3'

Sequencing Primer
(F):5'- GGCCAGCCATCCTGACC -3'
(R):5'- ATTAGCCCTCTCTCAGATGTAGGG -3'

Posted On

2019-05-13