Mutagenetix > Incidental Mutation

Incidental Mutation 'R6026:Gsdmc3'

480070

Institutional Source

Beutler Lab

Gene Symbol

Gsdmc3

Ensembl Gene

ENSMUSG00000055827

Gene Name

gasdermin C3

Synonyms

9930109F21Rik

MMRRC Submission

044198-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R6026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63729573-63750407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63738600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 154 (E154V)

Ref Sequence

ENSEMBL: ENSMUSP00000139472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089894] [ENSMUST00000185526] [ENSMUST00000190682]

AlphaFold

Q8CB12

Predicted Effect

probably damaging
Transcript: ENSMUST00000089894
AA Change: E154V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
AA Change: E154V

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	443	2.1e-154	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000185526
AA Change: E154V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140272
Gene: ENSMUSG00000055827
AA Change: E154V

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	443	1.4e-145	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000190682
AA Change: E154V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
AA Change: E154V

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	443	1.4e-145	PFAM

Meta Mutation Damage Score

0.7334

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	G	11: 58,316,581 (GRCm39)	D187G	probably benign	Het
4933421I07Rik	A	T	7: 42,095,708 (GRCm39)	M180K	probably benign	Het
Aatk	T	C	11: 119,903,190 (GRCm39)	H345R	possibly damaging	Het
Abcc8	T	C	7: 45,816,424 (GRCm39)	T239A	probably benign	Het
Abcf3	A	G	16: 20,369,320 (GRCm39)	E234G	probably damaging	Het
Actrt2	T	C	4: 154,751,047 (GRCm39)	D363G	possibly damaging	Het
Adam1a	A	T	5: 121,657,425 (GRCm39)	C623S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Barhl2	T	A	5: 106,603,474 (GRCm39)	K228N	probably benign	Het
Blvrb	A	G	7: 27,162,115 (GRCm39)	H153R	probably damaging	Het
Capn9	A	G	8: 125,332,601 (GRCm39)	D480G	probably damaging	Het
Cct3	T	C	3: 88,219,029 (GRCm39)	I182T	possibly damaging	Het
Clasp2	A	G	9: 113,740,646 (GRCm39)	N1208D	probably benign	Het
Col26a1	A	G	5: 136,876,354 (GRCm39)	C89R	probably damaging	Het
Cops4	T	A	5: 100,690,194 (GRCm39)		probably benign	Het
Cpox	T	A	16: 58,491,298 (GRCm39)	W170R	probably damaging	Het
Ddx27	A	G	2: 166,875,560 (GRCm39)	K656E	probably benign	Het
Eif4e	T	C	3: 138,256,661 (GRCm39)	I66T	probably damaging	Het
Ercc3	T	C	18: 32,378,974 (GRCm39)		probably null	Het
Esp38	G	A	17: 40,266,032 (GRCm39)	C47Y	probably damaging	Het
Fancd2	T	C	6: 113,528,731 (GRCm39)	V380A	possibly damaging	Het
Fbxw7	T	A	3: 84,859,948 (GRCm39)		probably null	Het
Fryl	T	G	5: 73,257,340 (GRCm39)	R736S	probably benign	Het
Gad2	G	A	2: 22,513,748 (GRCm39)	V62M	probably benign	Het
Gigyf2	A	G	1: 87,368,454 (GRCm39)	T1045A	probably damaging	Het
Gm13090	T	A	4: 151,175,157 (GRCm39)	L78*	probably null	Het
Gm19410	G	A	8: 36,279,580 (GRCm39)	S1815N	probably benign	Het
Gm28051	A	T	12: 102,686,444 (GRCm39)	L72Q	unknown	Het
Gm44511	T	C	6: 128,797,240 (GRCm39)	T83A	possibly damaging	Het
Grk2	C	T	19: 4,340,811 (GRCm39)	V246I	probably damaging	Het
Grm7	C	T	6: 111,478,500 (GRCm39)	Q62*	probably null	Het
Gstz1	A	C	12: 87,206,948 (GRCm39)	Q114P	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hhip	A	T	8: 80,699,069 (GRCm39)	C666S	probably damaging	Het
Hif1a	A	C	12: 73,979,055 (GRCm39)	H193P	probably damaging	Het
Hyal2	A	G	9: 107,449,398 (GRCm39)	T385A	probably benign	Het
Ihh	T	C	1: 74,985,886 (GRCm39)	T200A	probably benign	Het
Iqgap3	T	A	3: 87,997,478 (GRCm39)	V218E	probably damaging	Het
Lct	A	G	1: 128,227,755 (GRCm39)	I1246T	probably benign	Het
Lmo7	T	C	14: 102,118,426 (GRCm39)	V217A	probably benign	Het
Lrp1	C	T	10: 127,409,272 (GRCm39)	D1616N	probably damaging	Het
Lrrfip2	A	T	9: 111,043,239 (GRCm39)	T165S	probably damaging	Het
Morc2b	A	G	17: 33,356,957 (GRCm39)	Y272H	possibly damaging	Het
Muc16	A	G	9: 18,571,154 (GRCm39)	M455T	unknown	Het
Ncapg2	A	T	12: 116,406,641 (GRCm39)	D939V	possibly damaging	Het
Ncbp3	T	C	11: 72,958,548 (GRCm39)	V236A	probably benign	Het
Obscn	T	A	11: 58,957,916 (GRCm39)	T3595S	probably damaging	Het
Odf2l	T	C	3: 144,854,797 (GRCm39)	S545P	possibly damaging	Het
Or3a1	T	A	11: 74,225,914 (GRCm39)	I48F	probably damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pdzrn3	A	C	6: 101,339,105 (GRCm39)	C269G	probably benign	Het
Pear1	T	A	3: 87,664,220 (GRCm39)	N278Y	probably damaging	Het
Phb1	C	T	11: 95,562,245 (GRCm39)	R41*	probably null	Het
Pikfyve	T	C	1: 65,311,856 (GRCm39)	V2031A	probably damaging	Het
Plxna2	A	G	1: 194,482,122 (GRCm39)	I1465V	probably damaging	Het
Ppp6r2	A	G	15: 89,167,113 (GRCm39)	N776S	probably benign	Het
Prkce	A	T	17: 86,800,658 (GRCm39)	E358V	probably benign	Het
Prl5a1	A	T	13: 28,335,247 (GRCm39)	I219F	probably benign	Het
Prss3	T	C	6: 41,354,488 (GRCm39)		probably null	Het
Ptprc	A	T	1: 137,998,987 (GRCm39)	M858K	probably damaging	Het
Retreg3	T	C	11: 100,997,226 (GRCm39)	T85A	probably damaging	Het
Rfc2	T	A	5: 134,624,185 (GRCm39)	C265S	probably damaging	Het
Smarcd1	G	T	15: 99,603,619 (GRCm39)	V256L	probably damaging	Het
Stat5a	T	C	11: 100,771,142 (GRCm39)	F574L	probably damaging	Het
Tcirg1	T	C	19: 3,947,487 (GRCm39)	H624R	probably benign	Het
Tcstv1a	C	A	13: 120,355,987 (GRCm39)		probably benign	Het
Tenm2	C	T	11: 35,963,556 (GRCm39)		probably null	Het
Tomm40	A	G	7: 19,444,889 (GRCm39)	V164A	probably benign	Het
Txnl4a	T	C	18: 80,250,482 (GRCm39)	V26A	probably damaging	Het
Ugt2a3	A	T	5: 87,484,336 (GRCm39)	F229L	probably benign	Het
Utp20	T	C	10: 88,604,541 (GRCm39)	T1785A	probably benign	Het
Vmn1r22	T	A	6: 57,877,390 (GRCm39)	I196L	probably benign	Het
Zfp652	T	G	11: 95,640,788 (GRCm39)	C238G	possibly damaging	Het

Other mutations in Gsdmc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Gsdmc3	APN	15	63,731,526 (GRCm39)	missense	probably benign	0.05
IGL01125:Gsdmc3	APN	15	63,733,306 (GRCm39)	missense	probably benign	0.09
R0490:Gsdmc3	UTSW	15	63,732,099 (GRCm39)	missense	possibly damaging	0.88
R0620:Gsdmc3	UTSW	15	63,731,542 (GRCm39)	missense	probably damaging	1.00
R0932:Gsdmc3	UTSW	15	63,730,400 (GRCm39)	critical splice acceptor site	probably null
R1298:Gsdmc3	UTSW	15	63,732,130 (GRCm39)	missense	probably damaging	0.99
R1378:Gsdmc3	UTSW	15	63,731,435 (GRCm39)	splice site	probably benign
R1815:Gsdmc3	UTSW	15	63,740,965 (GRCm39)	missense	probably damaging	1.00
R1962:Gsdmc3	UTSW	15	63,730,315 (GRCm39)	missense	probably damaging	1.00
R1965:Gsdmc3	UTSW	15	63,730,296 (GRCm39)	missense	probably damaging	1.00
R2088:Gsdmc3	UTSW	15	63,732,063 (GRCm39)	critical splice donor site	probably null
R2090:Gsdmc3	UTSW	15	63,738,631 (GRCm39)	missense	probably benign	0.07
R2126:Gsdmc3	UTSW	15	63,730,383 (GRCm39)	nonsense	probably null
R2276:Gsdmc3	UTSW	15	63,732,105 (GRCm39)	missense	probably benign	0.09
R4412:Gsdmc3	UTSW	15	63,738,645 (GRCm39)	missense	probably benign	0.18
R4913:Gsdmc3	UTSW	15	63,730,122 (GRCm39)	makesense	probably null
R5241:Gsdmc3	UTSW	15	63,735,995 (GRCm39)	missense	possibly damaging	0.96
R6016:Gsdmc3	UTSW	15	63,740,261 (GRCm39)	missense	probably benign	0.07
R6291:Gsdmc3	UTSW	15	63,732,090 (GRCm39)	missense	probably benign	0.00
R6698:Gsdmc3	UTSW	15	63,732,120 (GRCm39)	missense	possibly damaging	0.94
R7316:Gsdmc3	UTSW	15	63,730,251 (GRCm39)	missense	possibly damaging	0.81
R7566:Gsdmc3	UTSW	15	63,733,510 (GRCm39)	missense	possibly damaging	0.77
R7717:Gsdmc3	UTSW	15	63,741,061 (GRCm39)	missense	probably damaging	1.00
R8978:Gsdmc3	UTSW	15	63,731,455 (GRCm39)	missense	probably damaging	1.00
R9104:Gsdmc3	UTSW	15	63,730,941 (GRCm39)	critical splice donor site	probably null
R9417:Gsdmc3	UTSW	15	63,738,663 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TGGAAAGCGATCCCCAGAATC -3'
(R):5'- GCACGTGTACCATGTTATCAACTTC -3'

Sequencing Primer
(F):5'- TCCCCTAAGAAGCAAGAGTACACTAG -3'
(R):5'- TTATTGACTGAGGAACGTCCCCAG -3'

Posted On

2017-06-26