Mutagenetix > Incidental Mutation

Incidental Mutation 'R6921:Sgcz'

539643

Institutional Source

Beutler Lab

Gene Symbol

Sgcz

Ensembl Gene

ENSMUSG00000039539

Gene Name

sarcoglycan zeta

Synonyms

C230085N17Rik

MMRRC Submission

045006-MU

Accession Numbers

Essential gene?

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

Stock #

R6921 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37989452-39128662 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37993443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 218 (E218G)

Ref Sequence

ENSEMBL: ENSMUSP00000113912 (fasta)

Gene Model

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

AlphaFold

Q8BX51

Predicted Effect

probably damaging
Transcript: ENSMUST00000118896
AA Change: E218G

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

SMART Domains

Protein: ENSMUSP00000113912
Gene: ENSMUSG00000039539
AA Change: E218G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000135764

SMART Domains

Protein: ENSMUSP00000117250
Gene: ENSMUSG00000039539

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

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 96.4%

Validation Efficiency

96% (46/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,166,019 (GRCm39)	H118Q	probably damaging	Het
Adgrl3	T	G	5: 81,796,560 (GRCm39)	V623G	probably damaging	Het
B9d2	A	G	7: 25,385,442 (GRCm39)	D84G	probably damaging	Het
Clec1a	A	T	6: 129,405,827 (GRCm39)	L268H	probably damaging	Het
Copa	A	T	1: 171,939,491 (GRCm39)	N576I	possibly damaging	Het
Cyp11b1	T	C	15: 74,712,798 (GRCm39)	T88A	probably benign	Het
Dis3l2	T	C	1: 86,785,063 (GRCm39)	I318T	probably benign	Het
Dmtf1	T	C	5: 9,180,654 (GRCm39)		probably benign	Het
Dnah17	C	A	11: 117,932,310 (GRCm39)	A3639S	probably damaging	Het
Dnajc8	T	A	4: 132,272,031 (GRCm39)	I89N	probably damaging	Het
Dync2h1	T	A	9: 7,102,549 (GRCm39)	H377L	probably benign	Het
Erfe	T	A	1: 91,298,054 (GRCm39)	I212N	probably benign	Het
Fam117b	A	G	1: 59,992,094 (GRCm39)	T248A	probably damaging	Het
Fbxo10	A	T	4: 45,044,849 (GRCm39)	N595K	probably damaging	Het
Fzd10	T	A	5: 128,678,646 (GRCm39)	M122K	probably damaging	Het
Gpr15	C	T	16: 58,538,144 (GRCm39)	R315H	probably benign	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
H6pd	T	C	4: 150,066,508 (GRCm39)	D626G	probably damaging	Het
Hexd	A	G	11: 121,113,107 (GRCm39)	D514G	probably damaging	Het
Hoxd4	T	C	2: 74,558,836 (GRCm39)	S220P	possibly damaging	Het
Invs	A	G	4: 48,396,260 (GRCm39)	H311R	possibly damaging	Het
Ip6k1	A	G	9: 107,901,634 (GRCm39)	T70A	probably damaging	Het
Lipt2	T	C	7: 99,809,578 (GRCm39)	C222R	probably damaging	Het
Lrrc3	T	A	10: 77,736,866 (GRCm39)	D190V	probably damaging	Het
Marchf10	T	C	11: 105,280,603 (GRCm39)	T561A	probably benign	Het
Mcm10	G	A	2: 5,005,746 (GRCm39)	T463I	probably benign	Het
Mideas	A	G	12: 84,203,233 (GRCm39)	S890P	probably damaging	Het
Mmel1	T	C	4: 154,966,134 (GRCm39)	L52P	probably damaging	Het
Nipbl	T	C	15: 8,332,969 (GRCm39)	N2218S	probably benign	Het
Nr4a3	C	T	4: 48,051,486 (GRCm39)	P80L	probably benign	Het
Nrip1	C	T	16: 76,089,476 (GRCm39)	G694R	possibly damaging	Het
Oit3	A	T	10: 59,271,767 (GRCm39)	C197S	probably damaging	Het
Or5al1	C	T	2: 85,990,196 (GRCm39)	V173M	probably benign	Het
Or8b1b	A	G	9: 38,375,543 (GRCm39)	I69V	probably benign	Het
Otol1	A	G	3: 69,935,433 (GRCm39)	E475G	possibly damaging	Het
Pes1	T	C	11: 3,923,330 (GRCm39)	F168L	probably damaging	Het
Plch1	C	T	3: 63,615,155 (GRCm39)	R780H	possibly damaging	Het
Pxdn	C	G	12: 30,065,504 (GRCm39)	P1275A	probably damaging	Het
Slc27a5	A	T	7: 12,725,135 (GRCm39)	N437K	probably damaging	Het
Sult2b1	A	G	7: 45,384,612 (GRCm39)	S155P	probably damaging	Het
Tgfbrap1	T	C	1: 43,091,056 (GRCm39)	M690V	probably benign	Het
Tmem151a	A	T	19: 5,133,119 (GRCm39)	L29Q	probably damaging	Het
Tmprss2	A	G	16: 97,369,637 (GRCm39)	I379T	probably damaging	Het
Vmn1r168	T	A	7: 23,240,323 (GRCm39)	V60E	probably damaging	Het
Vmn2r73	A	C	7: 85,507,446 (GRCm39)	V622G	probably benign	Het
Wdr72	A	G	9: 74,117,928 (GRCm39)	H880R	probably benign	Het
Zfhx3	A	G	8: 109,678,024 (GRCm39)	T3025A	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
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
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'- GAAGCAGCTCTGTGTGTCTC -3'
(R):5'- CATGTAAACTCATGATGGTGACCTAC -3'

Sequencing Primer
(F):5'- TCTCCTGGAACGTGATTCAAG -3'
(R):5'- CATGATGGTGACCTACTTTTTGAGC -3'

Posted On

2018-11-06