Mutagenetix > Incidental Mutation

Incidental Mutation 'R8931:Sgcz'

680313

Institutional Source

Beutler Lab

Gene Symbol

Sgcz

Ensembl Gene

ENSMUSG00000039539

Gene Name

sarcoglycan zeta

Synonyms

C230085N17Rik

MMRRC Submission

068775-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R8931 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37989452-39128662 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38107140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 124 (V124A)

Ref Sequence

ENSEMBL: ENSMUSP00000117250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118896] [ENSMUST00000135764]

AlphaFold

Q8BX51

Predicted Effect

probably damaging
Transcript: ENSMUST00000118896
AA Change: V124A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113912
Gene: ENSMUSG00000039539
AA Change: V124A

Domain	Start	End	E-Value	Type
Pfam:Sarcoglycan_1	38	298	4.7e-92	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000135764
AA Change: V124A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117250
Gene: ENSMUSG00000039539
AA Change: V124A

Domain	Start	End	E-Value	Type
Pfam:Sarcoglycan_1	38	201	4.4e-54	PFAM

Meta Mutation Damage Score

0.4518

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	G	C	17: 13,147,405 (GRCm39)	P204R	probably damaging	Het
Aldh3b1	A	G	19: 3,968,803 (GRCm39)	I250T	possibly damaging	Het
Ankrd11	C	T	8: 123,622,718 (GRCm39)	R378K	probably damaging	Het
Arap1	G	A	7: 101,057,324 (GRCm39)	R1355Q	possibly damaging	Het
Arhgef19	T	C	4: 140,976,603 (GRCm39)	V455A	probably damaging	Het
BC051019	T	C	7: 109,315,286 (GRCm39)	E323G	probably damaging	Het
Bzw2	T	C	12: 36,184,943 (GRCm39)	N2S	possibly damaging	Het
Calm3	G	C	7: 16,651,398 (GRCm39)	F66L	probably damaging	Het
Carmil1	T	A	13: 24,338,704 (GRCm39)	T191S	probably benign	Het
Cemip2	T	A	19: 21,770,323 (GRCm39)	S104T	probably benign	Het
Cep170	A	T	1: 176,597,377 (GRCm39)	C389S	probably benign	Het
Clhc1	C	T	11: 29,510,533 (GRCm39)	Q195*	probably null	Het
Cttnbp2	A	G	6: 18,434,808 (GRCm39)	L350P	probably benign	Het
Cyp7a1	T	C	4: 6,271,238 (GRCm39)	E306G	possibly damaging	Het
Ddx25	T	C	9: 35,465,864 (GRCm39)	N119S	possibly damaging	Het
Ephx2	G	T	14: 66,322,441 (GRCm39)		probably benign	Het
Ern2	C	T	7: 121,769,363 (GRCm39)	A888T	probably benign	Het
Fbln2	A	T	6: 91,246,072 (GRCm39)	I973F	probably damaging	Het
Fbn1	T	C	2: 125,202,095 (GRCm39)	I1259M	probably damaging	Het
Glis1	A	G	4: 107,421,060 (GRCm39)	H92R	probably benign	Het
Gm13283	A	C	4: 88,679,516 (GRCm39)	D169A	probably benign	Het
Gpr61	A	G	3: 108,057,470 (GRCm39)	L397P	probably benign	Het
H4c11	T	A	13: 21,919,369 (GRCm39)	I35N	probably damaging	Het
Hip1	A	T	5: 135,460,297 (GRCm39)		probably benign	Het
Hmgcs2	C	T	3: 98,203,557 (GRCm39)	A222V	probably damaging	Het
Ifna2	G	A	4: 88,601,712 (GRCm39)	T102I	probably benign	Het
Kat6b	T	C	14: 21,674,995 (GRCm39)	S387P	probably damaging	Het
Ldlr	G	A	9: 21,643,108 (GRCm39)	V45M	probably damaging	Het
Mc3r	A	T	2: 172,091,515 (GRCm39)	I246F	possibly damaging	Het
Mug1	G	C	6: 121,861,296 (GRCm39)	A1306P	probably benign	Het
Myo15a	A	G	11: 60,368,020 (GRCm39)	E260G	probably benign	Het
Naa16	A	G	14: 79,582,395 (GRCm39)	Y565H	probably damaging	Het
Ndufaf7	A	G	17: 79,244,950 (GRCm39)	Y23C	possibly damaging	Het
Nop58	G	A	1: 59,731,549 (GRCm39)		probably null	Het
Or6c33	A	T	10: 129,853,769 (GRCm39)	T180S	possibly damaging	Het
Or6c88	A	T	10: 129,406,550 (GRCm39)	T9S	probably benign	Het
Or7g19	T	A	9: 18,855,920 (GRCm39)		probably benign	Het
Pcdh8	G	A	14: 80,006,971 (GRCm39)	Q531*	probably null	Het
Pik3c2g	A	G	6: 139,821,093 (GRCm39)	T297A	probably benign	Het
Poc1b	T	C	10: 99,028,861 (GRCm39)		probably null	Het
Prb1c	G	A	6: 132,338,897 (GRCm39)	P107L		Het
Prokr2	A	G	2: 132,215,996 (GRCm39)	V155A	possibly damaging	Het
Rce1	C	T	19: 4,674,094 (GRCm39)		probably benign	Het
Rnf148	A	T	6: 23,654,704 (GRCm39)	N97K	possibly damaging	Het
Setbp1	A	G	18: 78,899,723 (GRCm39)	S1315P	probably benign	Het
Slc25a2	C	A	18: 37,771,089 (GRCm39)	G147C	probably damaging	Het
Slc28a2b	C	A	2: 122,348,983 (GRCm39)	P303Q		Het
Sod2	T	C	17: 13,227,193 (GRCm39)	L49P	probably damaging	Het
Tbc1d12	T	C	19: 38,854,098 (GRCm39)	V260A	probably benign	Het
Tcte2	C	A	17: 13,933,410 (GRCm39)		probably benign	Het
Tenm3	T	C	8: 48,688,637 (GRCm39)	T2317A	probably damaging	Het
Tfcp2	T	C	15: 100,402,298 (GRCm39)	I500V	possibly damaging	Het
Trav14-3	C	A	14: 54,001,112 (GRCm39)	Q108K	probably damaging	Het
Trbv14	T	C	6: 41,112,364 (GRCm39)	Y54H	probably damaging	Het
Trpm3	T	A	19: 22,744,034 (GRCm39)	V337E	probably damaging	Het
Tsbp1	T	C	17: 34,659,328 (GRCm39)		probably benign	Het
Uox	A	T	3: 146,318,047 (GRCm39)	I14F	probably damaging	Het
Wdfy3	A	G	5: 102,065,421 (GRCm39)	V1249A	probably benign	Het
Zfp511	T	C	7: 139,617,194 (GRCm39)	Y97H	probably damaging	Het
Zfp536	G	T	7: 37,268,721 (GRCm39)	Q232K	probably benign	Het
Zng1	T	G	19: 24,932,780 (GRCm39)	K84N	probably damaging	Het

Other mutations in Sgcz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01966:Sgcz	APN	8	38,107,169 (GRCm39)	missense	probably damaging	1.00
IGL02593:Sgcz	APN	8	37,990,432 (GRCm39)	missense	probably damaging	0.97
IGL03237:Sgcz	APN	8	38,030,332 (GRCm39)	missense	probably benign	0.01
IGL03238:Sgcz	APN	8	38,030,294 (GRCm39)	critical splice donor site	probably null
R0076:Sgcz	UTSW	8	38,012,596 (GRCm39)	splice site	probably benign
R0276:Sgcz	UTSW	8	38,420,073 (GRCm39)	missense	probably benign	0.18
R2095:Sgcz	UTSW	8	38,007,546 (GRCm39)	splice site	probably benign
R3623:Sgcz	UTSW	8	38,420,201 (GRCm39)	missense	probably damaging	0.96
R3624:Sgcz	UTSW	8	38,420,201 (GRCm39)	missense	probably damaging	0.96
R3862:Sgcz	UTSW	8	37,990,565 (GRCm39)	missense	probably benign
R3863:Sgcz	UTSW	8	37,990,565 (GRCm39)	missense	probably benign
R3953:Sgcz	UTSW	8	37,993,346 (GRCm39)	splice site	probably benign
R3956:Sgcz	UTSW	8	37,993,346 (GRCm39)	splice site	probably benign
R5120:Sgcz	UTSW	8	37,993,420 (GRCm39)	missense	probably benign	0.30
R5121:Sgcz	UTSW	8	38,006,821 (GRCm39)	missense	probably damaging	1.00
R5431:Sgcz	UTSW	8	38,107,138 (GRCm39)	missense	probably damaging	0.98
R5913:Sgcz	UTSW	8	37,993,425 (GRCm39)	missense	possibly damaging	0.75
R6921:Sgcz	UTSW	8	37,993,443 (GRCm39)	missense	probably damaging	1.00
R7151:Sgcz	UTSW	8	38,006,833 (GRCm39)	missense	possibly damaging	0.67
R7412:Sgcz	UTSW	8	37,990,565 (GRCm39)	missense	probably benign
R7507:Sgcz	UTSW	8	38,420,200 (GRCm39)	missense	probably benign	0.05
R7554:Sgcz	UTSW	8	38,030,426 (GRCm39)	splice site	probably null
R8121:Sgcz	UTSW	8	37,990,457 (GRCm39)	missense	probably damaging	1.00
R8355:Sgcz	UTSW	8	38,190,239 (GRCm39)	missense	probably benign	0.00
R8455:Sgcz	UTSW	8	38,190,239 (GRCm39)	missense	probably benign	0.00
R8486:Sgcz	UTSW	8	38,190,207 (GRCm39)	missense	probably benign	0.01
R8871:Sgcz	UTSW	8	38,420,103 (GRCm39)	missense	probably damaging	1.00
R8997:Sgcz	UTSW	8	39,127,894 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGGACTACAAAGACATCTCTGC -3'
(R):5'- CTGCCTGGGTATGAACATAGAAG -3'

Sequencing Primer
(F):5'- CTGCCTATGTGTTAGAGAAGTGACAC -3'
(R):5'- CCTGGGTATGAACATAGAAGCATTAC -3'

Posted On

2021-08-31