Mutagenetix > Incidental Mutation

Incidental Mutation 'R3623:Sgcz'

268733

Institutional Source

Beutler Lab

Gene Symbol

Sgcz

Ensembl Gene

ENSMUSG00000039539

Gene Name

sarcoglycan zeta

Synonyms

C230085N17Rik

Accession Numbers

Essential gene?

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

Stock #

R3623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37989452-39128662 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38420201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 17 (E17G)

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: E17G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113912
Gene: ENSMUSG00000039539
AA Change: E17G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000135764
AA Change: E17G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117250
Gene: ENSMUSG00000039539
AA Change: E17G

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

Meta Mutation Damage Score

0.1135

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (69/69)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,080,348 (GRCm39)	T364A	probably benign	Het
Adpgk	G	A	9: 59,221,036 (GRCm39)	V281I	probably benign	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,331,968 (GRCm39)	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,740,244 (GRCm39)	E104G	possibly damaging	Het
Becn2	T	C	1: 175,748,197 (GRCm39)	C88R	possibly damaging	Het
Bscl2	T	A	19: 8,818,514 (GRCm39)	C40S	probably benign	Het
Btaf1	A	G	19: 36,958,486 (GRCm39)	T668A	probably benign	Het
Camk2g	G	A	14: 20,805,775 (GRCm39)		probably benign	Het
Cd109	A	T	9: 78,574,639 (GRCm39)	D541V	probably damaging	Het
Cep135	G	A	5: 76,772,586 (GRCm39)	G657D	probably benign	Het
Coch	A	G	12: 51,649,609 (GRCm39)	I307V	probably benign	Het
D17H6S53E	A	G	17: 35,346,512 (GRCm39)	E141G	probably benign	Het
Ddias	T	C	7: 92,508,800 (GRCm39)	T372A	probably benign	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dock8	A	G	19: 25,057,241 (GRCm39)	Q216R	probably benign	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Ephx1	A	G	1: 180,817,498 (GRCm39)	I391T	probably benign	Het
Fcgbp	A	G	7: 27,800,701 (GRCm39)	Y1249C	probably damaging	Het
Gm5592	T	C	7: 40,807,052 (GRCm39)		probably benign	Het
Gm7964	A	G	7: 83,405,629 (GRCm39)	N149S	probably benign	Het
Greb1l	T	A	18: 10,542,380 (GRCm39)	I1325N	probably damaging	Het
H2-T3	T	C	17: 36,500,957 (GRCm39)	T20A	possibly damaging	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Irs2	C	T	8: 11,057,643 (GRCm39)	G263D	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kmt2a	A	G	9: 44,760,263 (GRCm39)	Y529H	probably damaging	Het
Mdfic	T	A	6: 15,770,319 (GRCm39)	N108K	probably damaging	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Mettl21e	T	A	1: 44,245,857 (GRCm39)	I130F	probably damaging	Het
Mlh3	C	T	12: 85,315,169 (GRCm39)	C339Y	probably damaging	Het
Mog	T	C	17: 37,323,338 (GRCm39)	H200R	possibly damaging	Het
Msrb3	C	T	10: 120,620,103 (GRCm39)	R72H	probably damaging	Het
Mtmr11	A	G	3: 96,072,583 (GRCm39)	H324R	probably damaging	Het
Myh7	T	C	14: 55,210,838 (GRCm39)	E1693G	probably damaging	Het
Nadk2	T	A	15: 9,084,303 (GRCm39)	W139R	probably damaging	Het
Ndufa9	A	T	6: 126,821,362 (GRCm39)	M76K	possibly damaging	Het
Nr1i2	A	G	16: 38,086,269 (GRCm39)		probably benign	Het
Nsd3	A	G	8: 26,152,835 (GRCm39)	T392A	probably damaging	Het
Or14a259	A	G	7: 86,013,308 (GRCm39)	F79S	probably benign	Het
Or52d3	T	C	7: 104,229,149 (GRCm39)	S99P	probably damaging	Het
P2ry2	A	T	7: 100,647,706 (GRCm39)	S200T	probably benign	Het
Pcnt	T	A	10: 76,269,584 (GRCm39)	E228V	probably benign	Het
Phka2	T	A	X: 159,327,291 (GRCm39)	Y334*	probably null	Het
Pkhd1l1	A	T	15: 44,390,265 (GRCm39)	K1460N	probably damaging	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Rspry1	A	G	8: 95,376,405 (GRCm39)	D309G	probably damaging	Het
Scap	A	G	9: 110,209,271 (GRCm39)	Y648C	probably damaging	Het
Slc17a5	A	T	9: 78,445,556 (GRCm39)	V433D	probably damaging	Het
Smad9	C	T	3: 54,696,705 (GRCm39)	R257W	probably damaging	Het
Srcap	T	C	7: 127,141,319 (GRCm39)	S1639P	probably damaging	Het
Strn3	T	C	12: 51,707,999 (GRCm39)	Y132C	possibly damaging	Het
Tas2r110	A	T	6: 132,845,433 (GRCm39)	M155L	probably benign	Het
Tasor2	T	C	13: 3,645,556 (GRCm39)	T98A	probably benign	Het
Thbd	A	G	2: 148,248,893 (GRCm39)	V325A	probably damaging	Het
Trpd52l3	T	A	19: 29,981,333 (GRCm39)	C29*	probably null	Het
Trpm1	A	G	7: 63,894,601 (GRCm39)	Y951C	probably damaging	Het
Ube3a	T	A	7: 58,921,860 (GRCm39)	N77K	probably damaging	Het
Upp2	G	A	2: 58,680,128 (GRCm39)	R300Q	possibly damaging	Het
Usp35	T	C	7: 96,961,827 (GRCm39)	H533R	probably damaging	Het
Veph1	C	T	3: 66,122,858 (GRCm39)	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,792,997 (GRCm39)	R775G	probably damaging	Het
Vps13c	T	A	9: 67,883,189 (GRCm39)		probably null	Het
Vps37c	T	A	19: 10,683,569 (GRCm39)		probably null	Het
Zap70	C	T	1: 36,818,216 (GRCm39)	T301I	probably benign	Het
Zfp341	A	G	2: 154,466,801 (GRCm39)	K57E	probably damaging	Het
Zfp60	T	A	7: 27,448,753 (GRCm39)	F474I	probably benign	Het
Zfp786	T	C	6: 47,798,357 (GRCm39)	N194D	probably benign	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
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
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'- GAGGTAAAATTGTGGTGGTACTTACC -3'
(R):5'- GCTATGTCAGTAACACAGACAATG -3'

Sequencing Primer
(F):5'- TACCACAGTGAAATTCATAACCTTC -3'
(R):5'- GCAACTTCCTCTCATCCCTCATG -3'

Posted On

2015-02-19