Mutagenetix > Incidental Mutation

Incidental Mutation 'R7259:Sgcg'

564502

Institutional Source

Beutler Lab

Gene Symbol

Sgcg

Ensembl Gene

ENSMUSG00000035296

Gene Name

sarcoglycan, gamma (dystrophin-associated glycoprotein)

Synonyms

gamma-SG, 5430420E18Rik

MMRRC Submission

045351-MU

Accession Numbers

Essential gene?

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

Stock #

R7259 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61456564-61495939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61462666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 227 (I227N)

Ref Sequence

ENSEMBL: ENSMUSP00000077106 (fasta)

Gene Model

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

AlphaFold

P82348

Predicted Effect

probably benign
Transcript: ENSMUST00000077954
AA Change: I227N

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000077106
Gene: ENSMUSG00000035296
AA Change: I227N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000089394

SMART Domains

Protein: ENSMUSP00000086816
Gene: ENSMUSG00000048279

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 benign
Transcript: ENSMUST00000121148
AA Change: I227N

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112576
Gene: ENSMUSG00000035296
AA Change: I227N

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	G	13: 8,620,288 (GRCm39)	Y258C	probably benign	Het
Aebp2	A	G	6: 140,579,494 (GRCm39)	S244G	probably benign	Het
Agl	A	T	3: 116,578,230 (GRCm39)	Y495N	probably damaging	Het
Arhgap33	A	G	7: 30,231,625 (GRCm39)	V120A	probably damaging	Het
Asb14	C	T	14: 26,625,412 (GRCm39)	H256Y	probably benign	Het
Atp2a2	A	G	5: 122,604,132 (GRCm39)	Y434H	probably benign	Het
Atrnl1	C	T	19: 57,924,038 (GRCm39)	R1268*	probably null	Het
AW554918	A	G	18: 25,422,906 (GRCm39)		probably null	Het
Canx	A	G	11: 50,192,643 (GRCm39)	W324R	probably damaging	Het
Col9a1	A	G	1: 24,224,424 (GRCm39)	E202G	unknown	Het
Crh	C	A	3: 19,748,418 (GRCm39)	A75S	possibly damaging	Het
Ctnnal1	T	A	4: 56,817,299 (GRCm39)		probably null	Het
Dmrta2	T	A	4: 109,839,104 (GRCm39)	S284T	possibly damaging	Het
Dock1	T	C	7: 134,384,477 (GRCm39)	V680A	probably damaging	Het
Duox2	G	A	2: 122,125,657 (GRCm39)	R317C	probably damaging	Het
Elmod2	A	G	8: 84,048,138 (GRCm39)	L108P	probably damaging	Het
Exoc6b	A	G	6: 84,825,792 (GRCm39)	S540P	probably benign	Het
Fsip2	C	T	2: 82,812,474 (GRCm39)	A2931V	possibly damaging	Het
Gipc2	A	T	3: 151,833,693 (GRCm39)	I196K	probably damaging	Het
Gli2	A	G	1: 118,764,264 (GRCm39)	S1296P	probably benign	Het
Gm21103	T	A	14: 17,482,882 (GRCm39)	Q173L	probably damaging	Het
Gpatch1	A	T	7: 34,986,546 (GRCm39)		probably null	Het
Grm8	G	A	6: 27,760,175 (GRCm39)	T385I	probably null	Het
Gtf2f1	C	A	17: 57,311,562 (GRCm39)	D283Y	probably damaging	Het
Hcar1	T	A	5: 124,017,275 (GRCm39)	T139S	possibly damaging	Het
Hcrtr1	T	A	4: 130,029,611 (GRCm39)	T157S	possibly damaging	Het
Htra2	T	G	6: 83,028,520 (GRCm39)	Q436P	possibly damaging	Het
Igkv1-133	A	G	6: 67,702,522 (GRCm39)	D80G	probably benign	Het
Il21	C	A	3: 37,281,803 (GRCm39)		probably null	Het
Inpp5f	T	A	7: 128,271,681 (GRCm39)	C359S	probably benign	Het
Itgb6	A	T	2: 60,480,355 (GRCm39)	I327N	probably damaging	Het
Itgbl1	A	T	14: 124,081,316 (GRCm39)	T232S	probably damaging	Het
Kif1a	T	A	1: 93,001,532 (GRCm39)	K266*	probably null	Het
Mcm10	C	A	2: 5,011,328 (GRCm39)	E214D	probably benign	Het
Mefv	T	A	16: 3,530,917 (GRCm39)	I522F	probably damaging	Het
Naaladl2	T	A	3: 24,112,340 (GRCm39)	I581F	possibly damaging	Het
Naip6	A	T	13: 100,440,863 (GRCm39)	Y306N	probably damaging	Het
Opn1sw	T	A	6: 29,378,911 (GRCm39)	H247L	probably benign	Het
Or4c119	A	C	2: 88,986,854 (GRCm39)	F222V	probably benign	Het
Or51v15-ps1	A	T	7: 103,278,966 (GRCm39)	M67K	probably damaging	Het
Or5k1b	T	C	16: 58,580,868 (GRCm39)	T224A	possibly damaging	Het
Or6c68	T	A	10: 129,157,663 (GRCm39)	M57K	probably benign	Het
Pbxip1	C	A	3: 89,352,940 (GRCm39)	F195L	probably benign	Het
Pcdh12	A	T	18: 38,414,677 (GRCm39)	F816Y	probably benign	Het
Pi4k2b	C	A	5: 52,910,587 (GRCm39)	N290K	probably damaging	Het
Pias2	T	C	18: 77,240,416 (GRCm39)	S598P	possibly damaging	Het
Ppfia4	A	G	1: 134,240,838 (GRCm39)	V835A	probably damaging	Het
Ptch1	T	C	13: 63,721,108 (GRCm39)	K54E	not run	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Scg2	T	C	1: 79,414,702 (GRCm39)	Y7C	probably benign	Het
Sec16a	A	G	2: 26,331,604 (GRCm39)	V137A	probably benign	Het
Setdb1	G	A	3: 95,247,224 (GRCm39)	T525I	probably benign	Het
Slc35e4	A	T	11: 3,862,530 (GRCm39)		probably null	Het
Smarca2	C	T	19: 26,631,864 (GRCm39)	Q560*	probably null	Het
Stk10	A	G	11: 32,548,497 (GRCm39)	N355S	probably benign	Het
Supt6	A	T	11: 78,098,442 (GRCm39)	D1716E	probably damaging	Het
Taok3	C	T	5: 117,390,608 (GRCm39)	A523V	probably benign	Het
Tekt3	A	G	11: 62,974,592 (GRCm39)	T304A	possibly damaging	Het
Ttc6	G	T	12: 57,622,970 (GRCm39)	R123L	probably benign	Het
Tyw1	T	A	5: 130,296,713 (GRCm39)		probably null	Het
Ulk2	A	G	11: 61,672,909 (GRCm39)	L895P	probably damaging	Het
Unc13c	A	T	9: 73,424,645 (GRCm39)	N1990K	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wipf1	A	G	2: 73,265,425 (GRCm39)	S393P	probably damaging	Het
Yju2b	T	C	8: 84,986,946 (GRCm39)	S184G	probably damaging	Het

Other mutations in Sgcg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Sgcg	APN	14	61,477,796 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CAGATGCCAGTGTAGGAGAGT -3'
(R):5'- AAAGTACCTTTCCCTCCTCTATGG -3'

Sequencing Primer
(F):5'- GGAATGTAACCTTGCACAGCCTTC -3'
(R):5'- GGGGGTTCATGTTAAAGC -3'

Posted On

2019-06-26