Mutagenetix > Incidental Mutation

Incidental Mutation 'R5182:Gsdmc4'

397637

Institutional Source

Beutler Lab

Gene Symbol

Gsdmc4

Ensembl Gene

ENSMUSG00000055748

Gene Name

gasdermin C4

Synonyms

9030605I04Rik

MMRRC Submission

042853-MU

Accession Numbers

Essential gene?

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

Stock #

R5182 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63763113-63784146 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63765653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 299 (V299F)

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: V299F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000066072
Gene: ENSMUSG00000055748
AA Change: V299F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177709

SMART Domains

Protein: ENSMUSP00000137240
Gene: ENSMUSG00000093867

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	161	2.1e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185431

Predicted Effect

probably damaging
Transcript: ENSMUST00000188108
AA Change: V299F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140269
Gene: ENSMUSG00000055748
AA Change: V299F

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

Meta Mutation Damage Score

0.5269

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	A	G	19: 21,608,129 (GRCm39)	M1T	probably null	Het
Abcg8	T	C	17: 85,000,172 (GRCm39)	L243P	probably damaging	Het
Ankrd27	A	G	7: 35,327,912 (GRCm39)	T811A	probably damaging	Het
Auts2	T	C	5: 131,503,919 (GRCm39)	N188S	probably null	Het
Bak1	G	A	17: 27,241,722 (GRCm39)	P65L	possibly damaging	Het
Cep350	A	C	1: 155,733,854 (GRCm39)	L3013R	probably damaging	Het
Clca3b	A	G	3: 144,533,776 (GRCm39)	I533T	probably damaging	Het
Col6a5	C	A	9: 105,734,531 (GRCm39)	E2637*	probably null	Het
Coq5	G	A	5: 115,417,815 (GRCm39)	R15H	probably benign	Het
Dnah5	T	G	15: 28,311,424 (GRCm39)	I1801S	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dpf3	T	C	12: 83,417,370 (GRCm39)	E34G	probably damaging	Het
Dst	C	A	1: 34,218,167 (GRCm39)	Q1536K	probably benign	Het
Eeig2	T	C	3: 108,892,667 (GRCm39)	K173E	possibly damaging	Het
Eng	T	C	2: 32,562,971 (GRCm39)		probably null	Het
Fignl1	A	T	11: 11,751,717 (GRCm39)	I446N	probably damaging	Het
Fras1	C	A	5: 96,784,032 (GRCm39)	C845*	probably null	Het
Gfm2	T	C	13: 97,299,401 (GRCm39)	V347A	probably damaging	Het
Gpld1	A	T	13: 25,168,053 (GRCm39)		probably null	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Hrnr	A	T	3: 93,239,450 (GRCm39)	R3229S	unknown	Het
Icam5	A	G	9: 20,946,106 (GRCm39)	T313A	probably benign	Het
Ift172	T	A	5: 31,424,958 (GRCm39)	D668V	possibly damaging	Het
Kdm5a	T	A	6: 120,365,066 (GRCm39)	C322*	probably null	Het
Klk6	A	G	7: 43,478,084 (GRCm39)	K152R	probably benign	Het
Man1a2	A	C	3: 100,554,333 (GRCm39)	I250S	probably damaging	Het
Nkpd1	A	G	7: 19,257,181 (GRCm39)	Y170C	probably damaging	Het
Nmd3	T	A	3: 69,629,801 (GRCm39)		probably null	Het
Or2y3	A	G	17: 38,393,005 (GRCm39)	M288T	probably benign	Het
Or51f1	A	T	7: 102,506,176 (GRCm39)	D104E	probably benign	Het
Pax4	C	T	6: 28,444,368 (GRCm39)	E229K	probably benign	Het
Pdc	T	C	1: 150,209,105 (GRCm39)	I196T	possibly damaging	Het
Pld1	T	C	3: 28,099,230 (GRCm39)	I299T	probably damaging	Het
Pnma1	T	C	12: 84,193,819 (GRCm39)	I295V	probably benign	Het
Prkg2	T	A	5: 99,172,568 (GRCm39)	Y49F	probably benign	Het
Psmd12	T	C	11: 107,370,485 (GRCm39)	L28P	probably damaging	Het
Ptprg	A	G	14: 12,154,174 (GRCm38)	T632A	probably benign	Het
Rab43	A	G	6: 87,771,637 (GRCm39)	*118R	probably null	Het
Rabep1	C	T	11: 70,795,454 (GRCm39)	R227*	probably null	Het
Rad51c	T	G	11: 87,288,545 (GRCm39)	I213L	possibly damaging	Het
Ranbp17	A	T	11: 33,169,287 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,585,495 (GRCm39)	E2735G	probably damaging	Het
Sdc3	A	G	4: 130,548,995 (GRCm39)		probably benign	Het
Sirpa	G	A	2: 129,457,652 (GRCm39)	R242H	possibly damaging	Het
Slc12a4	G	A	8: 106,671,238 (GRCm39)	T983M	probably damaging	Het
Snx7	A	G	3: 117,626,506 (GRCm39)	Y252H	probably damaging	Het
St18	C	T	1: 6,887,877 (GRCm39)	T482I	probably benign	Het
St7	A	G	6: 17,846,236 (GRCm39)	Y163C	probably damaging	Het
Tas2r140	A	T	6: 40,468,866 (GRCm39)	Q232L	probably benign	Het
Tgm6	A	T	2: 129,983,222 (GRCm39)	K270N	probably damaging	Het
Tiam2	G	A	17: 3,488,996 (GRCm39)	G768D	probably damaging	Het
Ttn	C	T	2: 76,700,773 (GRCm39)		probably benign	Het
Ube4b	A	C	4: 149,465,699 (GRCm39)	S250R	probably null	Het
Ubxn2a	G	A	12: 4,930,634 (GRCm39)	A242V	probably damaging	Het
Usp10	G	A	8: 120,683,420 (GRCm39)	V764I	possibly damaging	Het
Vmn1r222	A	G	13: 23,416,667 (GRCm39)	L182P	probably damaging	Het
Vmn2r114	A	G	17: 23,510,632 (GRCm39)	V616A	probably damaging	Het
Vps13a	A	G	19: 16,672,863 (GRCm39)	V1303A	possibly damaging	Het
Wnk2	G	T	13: 49,214,637 (GRCm39)	T1315K	possibly damaging	Het
Zfp936	G	A	7: 42,839,331 (GRCm39)	C266Y	probably damaging	Het
Zscan20	G	T	4: 128,480,504 (GRCm39)	N662K	possibly damaging	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
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
R8512:Gsdmc4	UTSW	15	63,763,808 (GRCm39)	missense	probably damaging	1.00
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'- ATGGAGCTGGAATCCCCATC -3'
(R):5'- GGAGCTCAAGCAGGTTGTCTATG -3'

Sequencing Primer
(F):5'- GAGCTGGAATCCCCATCTTTGAC -3'
(R):5'- GGAGACATTTTTAGCTACTGGAAATG -3'

Posted On

2016-07-06