Mutagenetix > Incidental Mutation

Incidental Mutation 'R5431:Sgcz'

428051

Institutional Source

Beutler Lab

Gene Symbol

Sgcz

Ensembl Gene

ENSMUSG00000039539

Gene Name

sarcoglycan zeta

Synonyms

C230085N17Rik

MMRRC Submission

042847-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R5431 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37989452-39128662 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38107138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 125 (T125S)

Ref Sequence

ENSEMBL: ENSMUSP00000117250 (fasta)

Gene Model

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

AlphaFold

Q8BX51

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118896
AA Change: T125S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113912
Gene: ENSMUSG00000039539
AA Change: T125S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000135764
AA Change: T125S

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

SMART Domains

Protein: ENSMUSP00000117250
Gene: ENSMUSG00000039539
AA Change: T125S

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,504,426 (GRCm39)	S124G	possibly damaging	Het
4921539E11Rik	T	C	4: 103,128,045 (GRCm39)	T27A	probably benign	Het
Aspg	T	A	12: 112,089,846 (GRCm39)	N461K	probably benign	Het
B4galnt3	T	A	6: 120,195,928 (GRCm39)	T300S	probably damaging	Het
BC035044	A	G	6: 128,861,970 (GRCm39)		probably benign	Het
Bmp5	C	T	9: 75,800,991 (GRCm39)	P374S	probably damaging	Het
C330018D20Rik	A	T	18: 57,090,928 (GRCm39)	F78L	probably benign	Het
Cds2	T	A	2: 132,144,090 (GRCm39)	S289T	probably benign	Het
Cerkl	C	T	2: 79,171,679 (GRCm39)	C393Y	probably damaging	Het
Cibar2	C	A	8: 120,894,042 (GRCm39)		probably null	Het
Ciita	C	T	16: 10,341,656 (GRCm39)	R1020C	probably damaging	Het
Dcaf13	C	A	15: 38,986,619 (GRCm39)	D130E	probably benign	Het
Dnal4	C	T	15: 79,646,648 (GRCm39)	G50R	probably damaging	Het
Elfn1	A	G	5: 139,957,323 (GRCm39)	N109S	probably damaging	Het
Ep400	A	G	5: 110,824,420 (GRCm39)	V2435A	unknown	Het
Fam178b	T	C	1: 36,671,566 (GRCm39)	E185G	probably damaging	Het
Fam227b	C	A	2: 125,968,851 (GRCm39)	L74F	probably benign	Het
Fgfr4	G	A	13: 55,304,464 (GRCm39)	V138I	probably benign	Het
Flnc	A	G	6: 29,456,383 (GRCm39)	I2161V	possibly damaging	Het
Frmd5	T	C	2: 121,393,390 (GRCm39)	N235S	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Ggt6	A	G	11: 72,328,564 (GRCm39)	T355A	possibly damaging	Het
Gm14393	G	A	2: 174,905,669 (GRCm39)	T41I	probably damaging	Het
Gpr151	A	C	18: 42,711,932 (GRCm39)	S249A	probably damaging	Het
Gpr152	T	A	19: 4,193,746 (GRCm39)	V429D	probably benign	Het
Grm7	G	A	6: 111,335,387 (GRCm39)	M599I	probably benign	Het
Hdac4	T	A	1: 91,900,512 (GRCm39)	R54*	probably null	Het
Ice1	A	G	13: 70,740,769 (GRCm39)	L2146S	probably damaging	Het
Igfbpl1	C	T	4: 45,815,588 (GRCm39)	V183I	probably benign	Het
Kel	G	A	6: 41,675,354 (GRCm39)	S299F	probably benign	Het
Kif14	T	C	1: 136,424,433 (GRCm39)	I1016T	possibly damaging	Het
Lhx3	T	C	2: 26,091,130 (GRCm39)	D395G	probably damaging	Het
Micu1	T	C	10: 59,586,343 (GRCm39)	Y140H	possibly damaging	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nbn	C	T	4: 15,986,593 (GRCm39)	H665Y	probably benign	Het
Pkhd1	G	T	1: 20,188,060 (GRCm39)	T3416K	probably benign	Het
Plxnb1	T	C	9: 108,929,840 (GRCm39)	F232S	probably damaging	Het
Pus7l	T	C	15: 94,427,367 (GRCm39)	N472D	probably damaging	Het
Rfx1	C	T	8: 84,809,349 (GRCm39)	Q225*	probably null	Het
Rnase2a	T	C	14: 51,493,020 (GRCm39)	Y115C	possibly damaging	Het
Ryr1	T	A	7: 28,809,237 (GRCm39)	D386V	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Homo
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Syt2	A	G	1: 134,668,695 (GRCm39)	S36G	probably benign	Het
Tcaf3	A	G	6: 42,574,119 (GRCm39)	L31P	probably damaging	Het
Tenm3	C	A	8: 48,820,412 (GRCm39)	E142*	probably null	Het
Tgfbr2	G	T	9: 115,960,669 (GRCm39)	S94R	probably damaging	Het
Tut4	T	A	4: 108,348,609 (GRCm39)	I297N	probably damaging	Het
Vmn2r12	A	G	5: 109,239,684 (GRCm39)	I293T	probably damaging	Het
Wrap73	G	A	4: 154,229,731 (GRCm39)	R34Q	probably damaging	Het
Zc3h14	A	G	12: 98,746,324 (GRCm39)	D511G	possibly 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
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
R8931:Sgcz	UTSW	8	38,107,140 (GRCm39)	missense	probably damaging	0.98
R8997:Sgcz	UTSW	8	39,127,894 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACTGGACTACAAAGACATCTCTG -3'
(R):5'- ACTGCCTGGGTATGAACATAGAAG -3'

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

Posted On

2016-09-01