Mutagenetix > Incidental Mutation

Incidental Mutation 'R9385:Gsdmc'

710292

Institutional Source

Beutler Lab

Gene Symbol

Gsdmc

Ensembl Gene

ENSMUSG00000079025

Gene Name

gasdermin C

Synonyms

Mlze, Gsdmc1

Accession Numbers

Essential gene?

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

Stock #

R9385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63647820-63680588 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63675486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 110 (Y110N)

Ref Sequence

ENSEMBL: ENSMUSP00000105752 (fasta)

Gene Model

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

AlphaFold

Q99NB5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110125
AA Change: Y110N

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105752
Gene: ENSMUSG00000079025
AA Change: Y110N

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000133683
Gene: ENSMUSG00000079025
AA Change: Y110N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,207,966 (GRCm39)	I554T	possibly damaging	Het
Adamts7	C	A	9: 90,077,258 (GRCm39)	C1308*	probably null	Het
Ank2	A	G	3: 126,753,366 (GRCm39)	V305A	probably benign	Het
Apob	A	G	12: 8,056,399 (GRCm39)	N1627S	possibly damaging	Het
Atp10a	A	T	7: 58,477,887 (GRCm39)	Q1310L	probably benign	Het
Atp8b4	A	T	2: 126,322,551 (GRCm39)	Y29*	probably null	Het
Card11	C	A	5: 140,871,276 (GRCm39)	R742S	probably benign	Het
Ccdc88a	A	G	11: 29,405,422 (GRCm39)	D365G	probably benign	Het
Ccdc88b	G	A	19: 6,833,533 (GRCm39)	R211W	probably benign	Het
Cda	T	G	4: 138,078,598 (GRCm39)	I55L	probably benign	Het
Cdkl3	A	C	11: 51,926,779 (GRCm39)	E577D	probably benign	Het
Cel	T	C	2: 28,450,587 (GRCm39)	D146G	probably damaging	Het
Cfap251	T	C	5: 123,426,878 (GRCm39)	L919S	probably damaging	Het
Cmya5	A	G	13: 93,230,880 (GRCm39)	S1403P	probably damaging	Het
Cntn2	G	A	1: 132,455,912 (GRCm39)	S202L	probably damaging	Het
Col15a1	C	T	4: 47,300,473 (GRCm39)	Q1045*	probably null	Het
Csmd1	T	C	8: 16,034,756 (GRCm39)	T2472A	probably benign	Het
Ctbp2	G	A	7: 132,601,069 (GRCm39)	R22C	probably benign	Het
Ddit4	A	G	10: 59,787,178 (GRCm39)	S53P	probably damaging	Het
Ddx52	G	T	11: 83,843,096 (GRCm39)	C365F	probably damaging	Het
Dnhd1	C	A	7: 105,361,972 (GRCm39)	L3677I	probably damaging	Het
Dscam	T	C	16: 96,840,203 (GRCm39)	T135A	probably benign	Het
Espl1	T	A	15: 102,207,185 (GRCm39)	D216E	probably damaging	Het
Fsip2	T	A	2: 82,819,793 (GRCm39)	D5175E	possibly damaging	Het
Fxr1	A	G	3: 34,074,120 (GRCm39)		probably benign	Het
Fyb1	A	G	15: 6,664,297 (GRCm39)	D460G	probably benign	Het
Gm3264	T	C	14: 16,058,217 (GRCm39)	I8T	possibly damaging	Het
H13	A	G	2: 152,537,413 (GRCm39)	N286S	probably benign	Het
H2ac1	A	T	13: 24,118,679 (GRCm39)	I79F	probably damaging	Het
Heatr1	A	G	13: 12,421,423 (GRCm39)	D441G	probably damaging	Het
Hps6	A	G	19: 45,994,349 (GRCm39)	D762G	probably damaging	Het
Hyou1	C	A	9: 44,292,812 (GRCm39)	Q141K	probably benign	Het
Lpin3	T	C	2: 160,738,993 (GRCm39)	I267T	probably benign	Het
Mdc1	A	G	17: 36,161,396 (GRCm39)	K770E	probably benign	Het
Mlh3	C	T	12: 85,316,144 (GRCm39)	R14H	probably damaging	Het
Nfxl1	C	A	5: 72,694,750 (GRCm39)	V478F	probably benign	Het
Nhlrc3	A	G	3: 53,361,015 (GRCm39)	W247R	probably damaging	Het
Nlrc3	C	T	16: 3,781,876 (GRCm39)	G527D	probably damaging	Het
Nop9	A	G	14: 55,988,584 (GRCm39)	E342G	probably benign	Het
Ntn1	C	A	11: 68,276,013 (GRCm39)	G312C	probably damaging	Het
Opcml	T	C	9: 28,586,459 (GRCm39)	V59A	possibly damaging	Het
Opn1sw	T	G	6: 29,379,425 (GRCm39)	Y193S	probably damaging	Het
Or10ad1c	C	T	15: 98,085,486 (GRCm39)	S64N	probably damaging	Het
Or5p54	T	A	7: 107,554,780 (GRCm39)	*311K	probably null	Het
Pabpc4l	A	T	3: 46,401,137 (GRCm39)	V169E	probably damaging	Het
Pde3a	A	G	6: 141,437,982 (GRCm39)	D1017G	probably benign	Het
Plagl2	C	T	2: 153,074,238 (GRCm39)	C221Y	probably damaging	Het
Plppr4	G	T	3: 117,116,377 (GRCm39)	N493K	possibly damaging	Het
Plxna2	T	C	1: 194,431,724 (GRCm39)	V571A	possibly damaging	Het
Pnma2	A	G	14: 67,153,371 (GRCm39)		probably benign	Het
Rnf123	T	A	9: 107,929,467 (GRCm39)	E1234D	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc22a23	T	C	13: 34,528,561 (GRCm39)	S74G	probably benign	Het
Slc36a4	T	C	9: 15,645,563 (GRCm39)	I330T	probably damaging	Het
Snrk	A	T	9: 121,995,463 (GRCm39)	D414V	probably benign	Het
Snrnp200	G	A	2: 127,079,978 (GRCm39)		probably null	Het
Spata31d1b	T	C	13: 59,863,403 (GRCm39)	S184P	probably damaging	Het
Tas2r140	A	T	6: 133,032,241 (GRCm39)	N172K	probably benign	Het
Tbc1d4	G	T	14: 101,700,356 (GRCm39)	Q858K	probably damaging	Het
Tex55	T	G	16: 38,648,407 (GRCm39)	D234A	probably benign	Het
Tial1	A	G	7: 128,044,209 (GRCm39)	C102R	unknown	Het
Ugt8a	A	T	3: 125,665,263 (GRCm39)	D411E	probably benign	Het
Usp34	A	G	11: 23,399,223 (GRCm39)	D2404G		Het
Vmn1r10	A	C	6: 57,090,833 (GRCm39)	I142L	probably benign	Het
Wdr97	A	G	15: 76,240,367 (GRCm39)	T352A		Het
Xpo7	A	T	14: 70,925,733 (GRCm39)	D435E	probably damaging	Het
Zmym1	A	G	4: 126,952,683 (GRCm39)	S33P	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
R8697:Gsdmc	UTSW	15	63,651,883 (GRCm39)	missense	probably benign	0.12
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
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'- ACCCTAATGAGTATTCTTAGTGGAC -3'
(R):5'- CATTCTCTAGAATAGCTGTTCCACAG -3'

Sequencing Primer
(F):5'- TAAACTAAATTGTCATCCACCCAGC -3'
(R):5'- GTTCCACAGTAAACTCTGAGCTG -3'

Posted On

2022-04-18