Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00088:Sgcg'

947

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sgcg

Ensembl Gene

ENSMUSG00000035296

Gene Name

sarcoglycan, gamma (dystrophin-associated glycoprotein)

Synonyms

gamma-SG, 5430420E18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

IGL00088

Quality Score

Status

Chromosome

Chromosomal Location

61456564-61495939 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 61477796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 98 (R98*)

Ref Sequence

ENSEMBL: ENSMUSP00000112576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077954] [ENSMUST00000089394] [ENSMUST00000121148]

AlphaFold

P82348

Predicted Effect

probably null
Transcript: ENSMUST00000077954
AA Change: R98*

SMART Domains

Protein: ENSMUSP00000077106
Gene: ENSMUSG00000035296
AA Change: R98*

Domain	Start	End	E-Value	Type
Pfam:Sarcoglycan_1	25	280	1.2e-81	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000089394
AA Change: L741Q

SMART Domains

Protein: ENSMUSP00000086816
Gene: ENSMUSG00000048279
AA Change: L741Q

Domain	Start	End	E-Value	Type
SCOP:d1lm8b_	8	66	3e-3	SMART
Blast:UBQ	9	81	3e-31	BLAST
Blast:HATPase_c	116	211	2e-10	BLAST
low complexity region	608	623	N/A	INTRINSIC
low complexity region	664	673	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000121148
AA Change: R98*

SMART Domains

Protein: ENSMUSP00000112576
Gene: ENSMUSG00000035296
AA Change: R98*

Domain	Start	End	E-Value	Type
Pfam:Sarcoglycan_1	23	284	1.1e-106	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in muscles and heart similar to muscular dystrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	A	G	18: 36,798,512 (GRCm39)		probably benign	Het
Anpep	A	G	7: 79,475,484 (GRCm39)	V879A	possibly damaging	Het
Asb13	T	G	13: 3,693,476 (GRCm39)	V78G	probably null	Het
Atad2b	A	G	12: 5,074,593 (GRCm39)	R1051G	probably damaging	Het
Bdp1	T	C	13: 100,235,018 (GRCm39)	Y192C	probably damaging	Het
C1ql2	G	T	1: 120,269,399 (GRCm39)	G185C	probably damaging	Het
Catsperg2	A	G	7: 29,404,829 (GRCm39)	S745P	possibly damaging	Het
Col19a1	A	T	1: 24,600,387 (GRCm39)	S52T	unknown	Het
Col4a2	G	T	8: 11,493,685 (GRCm39)	G1418V	probably damaging	Het
Crnkl1	C	T	2: 145,760,388 (GRCm39)	D677N	possibly damaging	Het
Cyp2j8	T	A	4: 96,392,079 (GRCm39)	N125I	probably benign	Het
Cyp2t4	A	T	7: 26,854,723 (GRCm39)	M68L	probably benign	Het
Dclk2	T	A	3: 86,706,397 (GRCm39)		probably null	Het
Dmxl2	T	C	9: 54,308,988 (GRCm39)	D1921G	probably benign	Het
Dnah10	G	A	5: 124,905,667 (GRCm39)	G4104S	probably damaging	Het
Echdc2	T	C	4: 108,036,108 (GRCm39)	I273T	probably damaging	Het
Extl1	T	C	4: 134,085,330 (GRCm39)	K596E	probably damaging	Het
Fads3	A	T	19: 10,029,663 (GRCm39)	D108V	probably null	Het
Fam135b	A	G	15: 71,322,343 (GRCm39)	L1274P	probably damaging	Het
Fat1	T	A	8: 45,477,639 (GRCm39)	H2228Q	possibly damaging	Het
Gcc2	C	T	10: 58,128,502 (GRCm39)	H1341Y	probably damaging	Het
Gls2	A	G	10: 128,036,840 (GRCm39)		probably null	Het
Gpr137	A	C	19: 6,917,072 (GRCm39)	V139G	probably damaging	Het
Ikbke	A	G	1: 131,197,749 (GRCm39)		probably null	Het
Irak2	A	T	6: 113,655,636 (GRCm39)	N285Y	probably benign	Het
Kcnu1	G	A	8: 26,387,884 (GRCm39)	C566Y	probably benign	Het
Klhl29	G	A	12: 5,190,705 (GRCm39)	P97S	probably benign	Het
Lama4	T	C	10: 38,941,591 (GRCm39)		probably benign	Het
Lhx6	G	A	2: 35,981,728 (GRCm39)		probably benign	Het
Mdn1	T	C	4: 32,723,651 (GRCm39)	L2529P	probably damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Naa15	T	A	3: 51,345,826 (GRCm39)	V19D	probably damaging	Het
Ncbp3	A	T	11: 72,964,355 (GRCm39)		probably benign	Het
Nckipsd	G	A	9: 108,692,168 (GRCm39)	V530I	probably benign	Het
Neb	A	G	2: 52,198,759 (GRCm39)	I394T	possibly damaging	Het
Nnmt	A	T	9: 48,503,224 (GRCm39)		probably benign	Het
Nup58	T	A	14: 60,480,026 (GRCm39)	I207L	probably benign	Het
Or14j2	A	T	17: 37,885,808 (GRCm39)	C169S	probably damaging	Het
Or5ae1	T	A	7: 84,565,578 (GRCm39)	M197K	probably damaging	Het
Or5k16	C	T	16: 58,736,213 (GRCm39)	E264K	probably benign	Het
Otud4	T	A	8: 80,399,510 (GRCm39)	N741K	probably damaging	Het
Pard6a	T	A	8: 106,429,833 (GRCm39)	C264S	probably benign	Het
Plch2	T	C	4: 155,091,099 (GRCm39)	N276S	probably damaging	Het
Pramel31	T	A	4: 144,089,100 (GRCm39)	H139Q	possibly damaging	Het
Pramel32	T	A	4: 88,547,307 (GRCm39)	K121N	probably benign	Het
Racgap1	T	C	15: 99,534,003 (GRCm39)		probably benign	Het
Rad51d	T	C	11: 82,780,572 (GRCm39)	D70G	probably damaging	Het
Recql4	C	T	15: 76,591,536 (GRCm39)	A484T	possibly damaging	Het
Reg3g	A	T	6: 78,443,762 (GRCm39)	S149T	probably benign	Het
Rpl13a	C	A	7: 44,776,495 (GRCm39)		probably null	Het
Scn10a	T	C	9: 119,501,292 (GRCm39)	Y164C	probably damaging	Het
Scn2a	A	G	2: 65,594,784 (GRCm39)	I1878V	probably benign	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Tas2r140	A	T	6: 40,468,274 (GRCm39)	I35F	probably benign	Het
Tex19.2	A	G	11: 121,007,638 (GRCm39)	F270S	possibly damaging	Het
Traip	C	T	9: 107,847,749 (GRCm39)	R391W	probably benign	Het
Trim7	A	G	11: 48,736,398 (GRCm39)	N251D	probably damaging	Het
Trmt2a	T	A	16: 18,067,351 (GRCm39)	V8D	probably benign	Het
Tut7	T	C	13: 59,964,512 (GRCm39)	E221G	probably damaging	Het
Ubr3	A	C	2: 69,819,154 (GRCm39)	I9L	probably benign	Het
Usp42	A	G	5: 143,702,897 (GRCm39)	S575P	probably benign	Het
Vmn2r52	G	T	7: 9,903,023 (GRCm39)	H468Q	probably benign	Het
Vmn2r59	T	A	7: 41,661,488 (GRCm39)	T776S	possibly damaging	Het

Other mutations in Sgcg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Sgcg	APN	14	61,469,924 (GRCm39)	missense	probably benign	0.00
R0466:Sgcg	UTSW	14	61,459,135 (GRCm39)	missense	probably damaging	1.00
R1236:Sgcg	UTSW	14	61,483,219 (GRCm39)	missense	probably damaging	0.99
R1870:Sgcg	UTSW	14	61,477,896 (GRCm39)	splice site	probably benign
R1879:Sgcg	UTSW	14	61,474,346 (GRCm39)	critical splice acceptor site	probably null
R1933:Sgcg	UTSW	14	61,469,861 (GRCm39)	missense	possibly damaging	0.77
R2090:Sgcg	UTSW	14	61,483,213 (GRCm39)	missense	probably damaging	0.99
R2937:Sgcg	UTSW	14	61,467,074 (GRCm39)	missense	probably damaging	1.00
R2938:Sgcg	UTSW	14	61,467,074 (GRCm39)	missense	probably damaging	1.00
R3508:Sgcg	UTSW	14	61,459,195 (GRCm39)	missense	probably benign
R5345:Sgcg	UTSW	14	61,483,218 (GRCm39)	missense	probably damaging	0.99
R5464:Sgcg	UTSW	14	61,474,304 (GRCm39)	missense	possibly damaging	0.65
R5582:Sgcg	UTSW	14	61,462,754 (GRCm39)	missense	probably damaging	1.00
R7259:Sgcg	UTSW	14	61,462,666 (GRCm39)	missense	probably benign	0.30
R7335:Sgcg	UTSW	14	61,477,816 (GRCm39)	missense	probably damaging	1.00
R8339:Sgcg	UTSW	14	61,469,966 (GRCm39)	missense	probably benign
R8482:Sgcg	UTSW	14	61,477,856 (GRCm39)	missense	probably damaging	1.00
R8807:Sgcg	UTSW	14	61,469,930 (GRCm39)	missense	probably damaging	1.00
R8916:Sgcg	UTSW	14	61,474,341 (GRCm39)	missense	probably damaging	0.97

Posted On

2011-07-12