Mutagenetix > Incidental Mutation

Incidental Mutation 'R8697:Gsdmc'

668801

Institutional Source

Beutler Lab

Gene Symbol

Gsdmc

Ensembl Gene

ENSMUSG00000079025

Gene Name

gasdermin C

Synonyms

Mlze, Gsdmc1

MMRRC Submission

068551-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R8697 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63647820-63680588 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63651883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 243 (S243T)

Ref Sequence

ENSEMBL: ENSMUSP00000105752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110125] [ENSMUST00000173503]

AlphaFold

Q99NB5

Predicted Effect

probably benign
Transcript: ENSMUST00000110125
AA Change: S243T

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105752
Gene: ENSMUSG00000079025
AA Change: S243T

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	444	6.2e-170	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000173503
AA Change: S243T

SMART Domains

Protein: ENSMUSP00000133683
Gene: ENSMUSG00000079025
AA Change: S243T

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	435	9.6e-157	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	C	T	1: 161,795,565 (GRCm39)	A8T	probably benign	Het
Acacb	T	C	5: 114,351,441 (GRCm39)	V1130A	probably damaging	Het
Ackr1	A	G	1: 173,159,775 (GRCm39)	F248S	probably damaging	Het
Alx4	G	A	2: 93,505,657 (GRCm39)	R253Q	probably damaging	Het
Ap3b2	T	C	7: 81,122,783 (GRCm39)	I485V	possibly damaging	Het
Aqp7	T	C	4: 41,045,305 (GRCm39)	E25G	probably damaging	Het
Cacna1g	T	C	11: 94,307,524 (GRCm39)	N1753D	probably benign	Het
Cacna2d1	T	A	5: 16,570,865 (GRCm39)	N1063K	possibly damaging	Het
Cad	T	C	5: 31,231,945 (GRCm39)	V1801A	probably benign	Het
Ccdc171	T	C	4: 83,600,577 (GRCm39)	W868R	probably damaging	Het
Cecr2	T	C	6: 120,710,779 (GRCm39)	Y165H	probably damaging	Het
Clip4	G	T	17: 72,163,270 (GRCm39)	G614V	possibly damaging	Het
Ctnnal1	T	A	4: 56,838,986 (GRCm39)	M236L	probably damaging	Het
Ctps1	T	C	4: 120,399,947 (GRCm39)	D470G	probably benign	Het
Dmwd	A	C	7: 18,812,113 (GRCm39)	Q189P	probably damaging	Het
Dnah17	A	G	11: 117,976,985 (GRCm39)	I1869T	possibly damaging	Het
Eepd1	A	G	9: 25,497,998 (GRCm39)	N361S	probably benign	Het
Ephb6	C	T	6: 41,591,157 (GRCm39)	H105Y	probably damaging	Het
Fkbp15	A	T	4: 62,239,295 (GRCm39)	Y603*	probably null	Het
Flt3	T	C	5: 147,294,811 (GRCm39)	Y420C	possibly damaging	Het
Frem2	T	A	3: 53,433,249 (GRCm39)	T2692S	probably damaging	Het
Gna12	T	A	5: 140,771,200 (GRCm39)	R157S	probably benign	Het
Hectd1	A	G	12: 51,819,320 (GRCm39)		probably benign	Het
Hoxd11	G	A	2: 74,513,013 (GRCm39)	G93R	unknown	Het
Hydin	A	G	8: 111,259,515 (GRCm39)	I2496V	probably benign	Het
Igsf10	A	G	3: 59,226,308 (GRCm39)	I2455T	probably benign	Het
Ilvbl	A	T	10: 78,419,196 (GRCm39)	R482*	probably null	Het
Itpr1	A	G	6: 108,500,327 (GRCm39)	Y2640C	probably damaging	Het
Kif20a	C	G	18: 34,761,584 (GRCm39)	Q326E	probably benign	Het
Lamp1	A	T	8: 13,224,448 (GRCm39)	M371L	possibly damaging	Het
Lcn6	A	G	2: 25,567,166 (GRCm39)	N56D	probably benign	Het
Map3k10	A	G	7: 27,362,784 (GRCm39)	V434A	probably benign	Het
Mdga1	T	C	17: 30,065,615 (GRCm39)	N331S	probably damaging	Het
Mndal	C	A	1: 173,700,558 (GRCm39)	E138*	probably null	Het
Morc3	T	C	16: 93,667,908 (GRCm39)	V762A	probably benign	Het
Ngef	A	T	1: 87,417,459 (GRCm39)	F279Y	probably damaging	Het
Or10ac1	A	G	6: 42,515,629 (GRCm39)	V109A	probably damaging	Het
Or5m13b	A	T	2: 85,754,200 (GRCm39)	K196I	possibly damaging	Het
Padi4	GGAGCTCCTGA	GGA	4: 140,485,230 (GRCm39)		probably null	Het
Pcdhb4	G	A	18: 37,441,832 (GRCm39)	V381M	probably benign	Het
Ppm1d	T	C	11: 85,227,986 (GRCm39)	Y301H	possibly damaging	Het
Rasgrf1	A	G	9: 89,877,055 (GRCm39)	T807A	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Sipa1l2	T	C	8: 126,208,855 (GRCm39)	K518E	probably damaging	Het
Skic3	A	G	13: 76,328,274 (GRCm39)	S1441G	probably damaging	Het
Slc52a3	A	G	2: 151,846,396 (GRCm39)	D119G	probably damaging	Het
Srsf4	C	T	4: 131,628,042 (GRCm39)	H379Y	unknown	Het
Ssr1	G	T	13: 38,167,425 (GRCm39)	S246*	probably null	Het
Tars2	C	T	3: 95,653,374 (GRCm39)	E509K	possibly damaging	Het
Tepsin	G	T	11: 119,988,354 (GRCm39)	Y34*	probably null	Het
Tmtc2	A	G	10: 105,205,831 (GRCm39)	I488T	probably damaging	Het
Trgc2	A	T	13: 19,491,514 (GRCm39)	M69K		Het
Ttn	A	G	2: 76,575,120 (GRCm39)	W25258R	probably damaging	Het
Utp14b	T	C	1: 78,644,244 (GRCm39)	M714T	probably benign	Het
Vwa3b	T	A	1: 37,115,461 (GRCm39)	H308Q	probably benign	Het
Washc2	A	G	6: 116,206,220 (GRCm39)	D480G	probably benign	Het
Xcl1	C	T	1: 164,763,008 (GRCm39)	V18I	unknown	Het
Zcchc2	C	A	1: 105,958,494 (GRCm39)	N988K	probably damaging	Het

Other mutations in Gsdmc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Gsdmc	APN	15	63,676,270 (GRCm39)	missense	probably benign	0.41
IGL00791:Gsdmc	APN	15	63,676,284 (GRCm39)	missense	possibly damaging	0.85
IGL01889:Gsdmc	APN	15	63,651,852 (GRCm39)	missense	possibly damaging	0.89
IGL01917:Gsdmc	APN	15	63,650,434 (GRCm39)	missense	probably benign
IGL01948:Gsdmc	APN	15	63,650,430 (GRCm39)	missense	probably damaging	1.00
IGL02391:Gsdmc	APN	15	63,675,428 (GRCm39)	missense	probably damaging	0.99
IGL02479:Gsdmc	APN	15	63,649,824 (GRCm39)	missense	possibly damaging	0.87
IGL02551:Gsdmc	APN	15	63,673,782 (GRCm39)	missense	probably benign	0.00
R0115:Gsdmc	UTSW	15	63,675,486 (GRCm39)	missense	probably damaging	0.99
R1523:Gsdmc	UTSW	15	63,675,479 (GRCm39)	missense	probably damaging	0.99
R1655:Gsdmc	UTSW	15	63,651,892 (GRCm39)	missense	probably benign	0.42
R1990:Gsdmc	UTSW	15	63,673,748 (GRCm39)	missense	probably benign	0.12
R1991:Gsdmc	UTSW	15	63,673,748 (GRCm39)	missense	probably benign	0.12
R2267:Gsdmc	UTSW	15	63,648,647 (GRCm39)	missense	probably benign	0.12
R2882:Gsdmc	UTSW	15	63,651,644 (GRCm39)	missense	probably benign	0.24
R2943:Gsdmc	UTSW	15	63,675,501 (GRCm39)	missense	possibly damaging	0.91
R4110:Gsdmc	UTSW	15	63,651,876 (GRCm39)	missense	probably benign	0.08
R4712:Gsdmc	UTSW	15	63,651,386 (GRCm39)	missense	probably benign	0.01
R4963:Gsdmc	UTSW	15	63,676,229 (GRCm39)	critical splice donor site	probably null
R4997:Gsdmc	UTSW	15	63,648,629 (GRCm39)	missense	probably damaging	1.00
R5032:Gsdmc	UTSW	15	63,673,882 (GRCm39)	missense	possibly damaging	0.63
R5276:Gsdmc	UTSW	15	63,673,806 (GRCm39)	missense	probably benign	0.25
R5346:Gsdmc	UTSW	15	63,648,735 (GRCm39)	missense	probably damaging	1.00
R5963:Gsdmc	UTSW	15	63,651,965 (GRCm39)	splice site	probably null
R5965:Gsdmc	UTSW	15	63,676,447 (GRCm39)	critical splice acceptor site	probably null
R6872:Gsdmc	UTSW	15	63,650,556 (GRCm39)	missense	possibly damaging	0.79
R7035:Gsdmc	UTSW	15	63,650,569 (GRCm39)	splice site	probably null
R7408:Gsdmc	UTSW	15	63,676,315 (GRCm39)	missense	probably benign
R7719:Gsdmc	UTSW	15	63,650,813 (GRCm39)	splice site	probably null
R7862:Gsdmc	UTSW	15	63,649,845 (GRCm39)	missense	possibly damaging	0.52
R8528:Gsdmc	UTSW	15	63,649,189 (GRCm39)	splice site	probably null
R9069:Gsdmc	UTSW	15	63,649,902 (GRCm39)	missense	probably benign	0.12
R9253:Gsdmc	UTSW	15	63,676,407 (GRCm39)	missense	probably damaging	0.99
R9312:Gsdmc	UTSW	15	63,649,806 (GRCm39)	missense	probably damaging	0.98
R9385:Gsdmc	UTSW	15	63,675,486 (GRCm39)	missense	possibly damaging	0.89
R9476:Gsdmc	UTSW	15	63,650,551 (GRCm39)	missense	probably benign	0.03
R9511:Gsdmc	UTSW	15	63,649,897 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- CCCACCCAAGAATTAGTGTTTGTC -3'
(R):5'- ATTCACAGGACACACAGGCTG -3'

Sequencing Primer
(F):5'- CCCAAGAATTAGTGTTTGTCCTTAC -3'
(R):5'- GGTGCTCAGGTTGACATCAGTC -3'

Posted On

2021-04-30