Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4486001:Gsdma3'

556113

Institutional Source

Beutler Lab

Gene Symbol

Gsdma3

Ensembl Gene

ENSMUSG00000064224

Gene Name

gasdermin A3

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

PIT4486001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98517186-98529052 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98528880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 454 (K454E)

Ref Sequence

ENSEMBL: ENSMUSP00000073022 (fasta)

Gene Model

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

AlphaFold

Q5Y4Y6

Predicted Effect

unknown
Transcript: ENSMUST00000073295
AA Change: K454E

SMART Domains

Protein: ENSMUSP00000073022
Gene: ENSMUSG00000064224
AA Change: K454E

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

Predicted Effect

unknown
Transcript: ENSMUST00000107508
AA Change: K445E

SMART Domains

Protein: ENSMUSP00000103132
Gene: ENSMUSG00000064224
AA Change: K445E

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: 93.0%
3x: 90.5%
10x: 84.1%
20x: 70.1%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	C	5: 144,980,914 (GRCm39)	S108P	probably damaging	Het
Abhd16b	A	T	2: 181,135,752 (GRCm39)	Q218L	probably benign	Het
Abhd3	T	A	18: 10,645,233 (GRCm39)	I354F	probably benign	Het
Abt1	T	C	13: 23,607,851 (GRCm39)	Y51C	possibly damaging	Het
Actl9	T	A	17: 33,653,172 (GRCm39)	Y411N	possibly damaging	Het
Ano4	A	G	10: 88,828,891 (GRCm39)	V516A	probably damaging	Het
Bptf	A	T	11: 106,945,614 (GRCm39)	S2542T	probably damaging	Het
Card11	C	T	5: 140,862,163 (GRCm39)	V1045M	probably damaging	Het
Ccdc121	T	A	5: 31,645,087 (GRCm39)	I280K	probably damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cdh3	A	G	8: 107,268,122 (GRCm39)	K386E	possibly damaging	Het
Cks1b	C	A	3: 89,323,621 (GRCm39)	Q49H	probably damaging	Het
Clpb	A	T	7: 101,313,139 (GRCm39)	D41V	probably benign	Het
Cyp3a11	A	T	5: 145,797,302 (GRCm39)	M359K	probably damaging	Het
Cyp3a13	A	T	5: 137,908,228 (GRCm39)	I207N	probably benign	Het
Dennd4c	T	A	4: 86,717,701 (GRCm39)	L566*	probably null	Het
Dhtkd1	A	T	2: 5,904,806 (GRCm39)	D859E	probably benign	Het
Efcab6	T	C	15: 83,857,514 (GRCm39)	D295G	probably benign	Het
Fcgbp	A	G	7: 27,774,698 (GRCm39)	T91A	possibly damaging	Het
Gm11569	GCAGCTGGGCCTGCAGCAGCTGGAAATGCAGCAGCTAGGACGGCAACA	GCA	11: 99,689,491 (GRCm39)		probably benign	Het
Herc1	T	A	9: 66,279,671 (GRCm39)	I193N	probably damaging	Het
Kdm5b	T	A	1: 134,556,423 (GRCm39)	L1370Q	probably damaging	Het
Lrrc37	A	T	11: 103,509,027 (GRCm39)	H980Q	unknown	Het
Map4	T	G	9: 109,901,682 (GRCm39)	V965G	probably damaging	Het
Mkrn2os	T	C	6: 115,562,444 (GRCm39)	D173G	probably benign	Het
Ndfip2	A	G	14: 105,532,300 (GRCm39)	D232G	probably damaging	Het
Nipal2	C	T	15: 34,584,875 (GRCm39)	G231D	probably damaging	Het
Notch3	A	T	17: 32,373,737 (GRCm39)	N490K	probably damaging	Het
Or5p68	A	G	7: 107,945,529 (GRCm39)	S220P	possibly damaging	Het
Or8g50	T	A	9: 39,648,535 (GRCm39)	C141*	probably null	Het
Prkar2a	T	C	9: 108,610,326 (GRCm39)	L185S	probably damaging	Het
Ptpn9	T	G	9: 56,968,287 (GRCm39)	N542K	probably damaging	Het
Pus10	G	A	11: 23,662,326 (GRCm39)		probably null	Het
Pyroxd2	A	G	19: 42,728,828 (GRCm39)	S191P	probably benign	Het
Rab15	T	A	12: 76,848,716 (GRCm39)	K122*	probably null	Het
Rara	A	G	11: 98,864,321 (GRCm39)	N416S	possibly damaging	Het
Rims2	T	C	15: 39,339,916 (GRCm39)	V870A	possibly damaging	Het
Sec16a	T	C	2: 26,315,785 (GRCm39)	T293A		Het
Slc26a3	G	A	12: 31,520,949 (GRCm39)	D718N	probably benign	Het
Slc44a5	G	A	3: 153,964,659 (GRCm39)	V520I	possibly damaging	Het
Spata31e2	G	A	1: 26,724,410 (GRCm39)	P257S	probably damaging	Het
Tgfb2	A	T	1: 186,422,924 (GRCm39)	Y142N	probably benign	Het
Tgfbi	A	T	13: 56,777,607 (GRCm39)	I364F	probably damaging	Het
Tmem144	A	C	3: 79,734,174 (GRCm39)	D176E	probably benign	Het
Tns4	A	T	11: 98,962,161 (GRCm39)	L612Q	probably damaging	Het
Toe1	A	G	4: 116,663,692 (GRCm39)	L76S	probably damaging	Het
Trank1	T	C	9: 111,219,175 (GRCm39)	F1971L	probably damaging	Het
Tsen54	G	T	11: 115,713,422 (GRCm39)	V481F	probably damaging	Het
Uimc1	A	G	13: 55,223,381 (GRCm39)	L297P	probably damaging	Het
Wnt8a	T	C	18: 34,680,636 (GRCm39)	Y334H	probably damaging	Het
Zfp281	A	G	1: 136,554,741 (GRCm39)	D573G	possibly damaging	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
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
R7053:Gsdma3	UTSW	11	98,520,621 (GRCm39)	missense	possibly damaging	0.75
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'- CACCTTGGAGCAGAACTTCCTG -3'
(R):5'- ACTTCAGGATTTAAGCATCAGGAG -3'

Sequencing Primer
(F):5'- CCTGCAAGATAAAGAGGGTGTTTTCC -3'
(R):5'- CATCAGGAGATGGGCTTAGTG -3'

Posted On

2019-06-07