Mutagenetix > Incidental Mutation

Incidental Mutation 'R8512:Gsdmc4'

655956

Institutional Source

Beutler Lab

Gene Symbol

Gsdmc4

Ensembl Gene

ENSMUSG00000055748

Gene Name

gasdermin C4

Synonyms

9030605I04Rik

MMRRC Submission

067846-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8512 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63763113-63784146 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63763808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 430 (C430R)

Ref Sequence

ENSEMBL: ENSMUSP00000140269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063530] [ENSMUST00000188108]

AlphaFold

Q3TR54

Predicted Effect

probably damaging
Transcript: ENSMUST00000063530
AA Change: C430R

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

SMART Domains

Protein: ENSMUSP00000066072
Gene: ENSMUSG00000055748
AA Change: C430R

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	443	1.2e-162	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000188108
AA Change: C430R

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

SMART Domains

Protein: ENSMUSP00000140269
Gene: ENSMUSG00000055748
AA Change: C430R

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	443	3.8e-153	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,125,760 (GRCm39)		probably null	Het
Akap13	T	C	7: 75,260,834 (GRCm39)	S350P	probably damaging	Het
Celsr2	A	G	3: 108,321,154 (GRCm39)	F553L	probably damaging	Het
Ces3a	A	T	8: 105,784,661 (GRCm39)	T548S	probably benign	Het
Chtf8	G	A	8: 107,612,066 (GRCm39)	T291I	probably benign	Het
Ckmt1	A	T	2: 121,191,689 (GRCm39)	R286S	probably damaging	Het
Dnajb2	C	T	1: 75,218,075 (GRCm39)	R191W		Het
Dtnbp1	G	T	13: 45,075,867 (GRCm39)	A292E	probably benign	Het
Esrrg	T	G	1: 187,775,777 (GRCm39)	Y101*	probably null	Het
Etaa1	G	A	11: 17,897,442 (GRCm39)	S225L	probably damaging	Het
Evi5l	A	G	8: 4,243,121 (GRCm39)	Y335C	probably benign	Het
Fcho2	T	C	13: 98,891,730 (GRCm39)	D344G	possibly damaging	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gsdmc2	C	T	15: 63,706,864 (GRCm39)	V101I	probably null	Het
Irak4	A	C	15: 94,464,659 (GRCm39)	I410L	probably benign	Het
Kirrel1	A	G	3: 86,995,534 (GRCm39)	V436A	probably benign	Het
Lrrc30	T	A	17: 67,938,947 (GRCm39)	Q211L	probably damaging	Het
Map4k1	C	T	7: 28,695,583 (GRCm39)	H512Y	possibly damaging	Het
Matn3	T	A	12: 9,011,183 (GRCm39)	S365T	probably benign	Het
Msantd2	T	C	9: 37,434,231 (GRCm39)	I358T	possibly damaging	Het
Msantd5	T	A	11: 51,125,487 (GRCm39)	S137T	probably benign	Het
Msx3	G	T	7: 139,628,884 (GRCm39)	A10E	probably benign	Het
Muc16	T	C	9: 18,549,488 (GRCm39)	T5602A	probably benign	Het
Myh2	T	C	11: 67,081,187 (GRCm39)	S1268P	probably benign	Het
Mynn	C	T	3: 30,670,798 (GRCm39)	P557S	probably damaging	Het
Naglu	T	C	11: 100,961,168 (GRCm39)	V73A	probably benign	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTG	11: 62,324,437 (GRCm39)		probably benign	Het
Or10al3	T	A	17: 38,012,071 (GRCm39)	F170Y	probably damaging	Het
Or6c75	T	A	10: 129,337,496 (GRCm39)	S240T	probably damaging	Het
P2rx3	C	T	2: 84,854,755 (GRCm39)	E100K	probably damaging	Het
Pnisr	C	T	4: 21,870,372 (GRCm39)	Q375*	probably null	Het
Psmb9	C	T	17: 34,402,602 (GRCm39)	C126Y	probably benign	Het
Ptprt	A	G	2: 161,400,783 (GRCm39)	F1085L	probably benign	Het
Rev3l	A	G	10: 39,697,534 (GRCm39)	Y677C	probably damaging	Het
Rftn2	G	A	1: 55,253,324 (GRCm39)	P93L	probably damaging	Het
Rtl1	T	A	12: 109,561,051 (GRCm39)	M263L	unknown	Het
Sec24c	T	C	14: 20,740,920 (GRCm39)	V722A	possibly damaging	Het
Slc2a7	T	C	4: 150,247,752 (GRCm39)	L384P	probably benign	Het
Slc6a11	T	C	6: 114,215,402 (GRCm39)	L434P	probably damaging	Het
Sptb	T	C	12: 76,648,826 (GRCm39)	E1869G	possibly damaging	Het
Susd2	G	A	10: 75,475,485 (GRCm39)	T473I	probably benign	Het
Synpo	C	T	18: 60,735,483 (GRCm39)	R821H	probably damaging	Het
Tdrd9	G	A	12: 112,012,627 (GRCm39)	V1184I	probably benign	Het
Tle1	T	G	4: 72,040,670 (GRCm39)	K630Q	possibly damaging	Het
Traf3	A	T	12: 111,228,426 (GRCm39)	T546S	probably benign	Het
Ttc17	G	A	2: 94,202,108 (GRCm39)	T398M	probably damaging	Het
Ttn	G	C	2: 76,698,692 (GRCm39)	N136K		Het
Ttn	T	C	2: 76,747,111 (GRCm39)	E4646G	probably benign	Het
Xbp1	T	C	11: 5,474,266 (GRCm39)	S156P	probably damaging	Het
Yipf7	C	T	5: 69,674,387 (GRCm39)	V253I	probably benign	Het

Other mutations in Gsdmc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:Gsdmc4	APN	15	63,769,653 (GRCm39)	missense	probably damaging	1.00
IGL02301:Gsdmc4	APN	15	63,767,113 (GRCm39)	missense	probably benign	0.00
IGL02586:Gsdmc4	APN	15	63,765,641 (GRCm39)	missense	probably damaging	0.98
IGL02747:Gsdmc4	APN	15	63,765,720 (GRCm39)	missense	probably benign	0.04
IGL02829:Gsdmc4	APN	15	63,764,497 (GRCm39)	missense	probably benign	0.01
IGL03233:Gsdmc4	APN	15	63,774,709 (GRCm39)	missense	probably damaging	1.00
R0835:Gsdmc4	UTSW	15	63,765,649 (GRCm39)	missense	probably damaging	1.00
R0981:Gsdmc4	UTSW	15	63,763,922 (GRCm39)	missense	probably damaging	1.00
R1946:Gsdmc4	UTSW	15	63,774,629 (GRCm39)	missense	probably benign	0.19
R2350:Gsdmc4	UTSW	15	63,765,014 (GRCm39)	missense	probably benign
R2967:Gsdmc4	UTSW	15	63,773,909 (GRCm39)	missense	probably benign	0.19
R3409:Gsdmc4	UTSW	15	63,763,895 (GRCm39)	missense	probably benign	0.09
R3410:Gsdmc4	UTSW	15	63,763,895 (GRCm39)	missense	probably benign	0.09
R4067:Gsdmc4	UTSW	15	63,765,736 (GRCm39)	splice site	probably null
R4840:Gsdmc4	UTSW	15	63,765,596 (GRCm39)	missense	probably benign	0.24
R5182:Gsdmc4	UTSW	15	63,765,653 (GRCm39)	missense	probably damaging	1.00
R5624:Gsdmc4	UTSW	15	63,764,503 (GRCm39)	missense	possibly damaging	0.91
R5910:Gsdmc4	UTSW	15	63,767,101 (GRCm39)	missense	possibly damaging	0.77
R6533:Gsdmc4	UTSW	15	63,763,909 (GRCm39)	missense	probably damaging	1.00
R6698:Gsdmc4	UTSW	15	63,765,613 (GRCm39)	missense	probably benign	0.10
R7291:Gsdmc4	UTSW	15	63,774,689 (GRCm39)	missense	possibly damaging	0.81
R7598:Gsdmc4	UTSW	15	63,772,235 (GRCm39)	missense	probably damaging	1.00
R7691:Gsdmc4	UTSW	15	63,765,640 (GRCm39)	missense	probably damaging	1.00
R7851:Gsdmc4	UTSW	15	63,774,595 (GRCm39)	nonsense	probably null
R7881:Gsdmc4	UTSW	15	63,769,568 (GRCm39)	missense	possibly damaging	0.91
R8300:Gsdmc4	UTSW	15	63,766,790 (GRCm39)	missense	probably damaging	0.97
R9041:Gsdmc4	UTSW	15	63,774,586 (GRCm39)	missense	probably benign	0.10
R9357:Gsdmc4	UTSW	15	63,772,196 (GRCm39)	missense	probably benign	0.06
R9680:Gsdmc4	UTSW	15	63,774,706 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- ATGCACTCGATTCACGACTC -3'
(R):5'- TCAGGTCTTGCTCATTAGGTC -3'

Sequencing Primer
(F):5'- GATTCACGACTCTTGTGTATGC -3'
(R):5'- TGGGACAGATCTTACCCTGG -3'

Posted On

2020-10-20