Mutagenetix > Incidental Mutation

Incidental Mutation 'R7647:Sgcb'

628330

Institutional Source

Beutler Lab

Gene Symbol

Sgcb

Ensembl Gene

ENSMUSG00000029156

Gene Name

sarcoglycan, beta (dystrophin-associated glycoprotein)

Synonyms

beta-SG

MMRRC Submission

045725-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R7647 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73790092-73805080 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to T at 73796720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000079937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081170]

AlphaFold

P82349

Predicted Effect

probably null
Transcript: ENSMUST00000081170

SMART Domains

Protein: ENSMUSP00000079937
Gene: ENSMUSG00000029156

Domain	Start	End	E-Value	Type
Pfam:Sarcoglycan_1	56	305	4.3e-67	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (43/43)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit muscular dystrophy and cardiomyopathy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	C	A	12: 18,564,803 (GRCm39)	T22K	possibly damaging	Het
Abca7	G	T	10: 79,836,656 (GRCm39)	M344I	probably benign	Het
Alg14	T	C	3: 121,155,334 (GRCm39)	S185P	probably damaging	Het
Atg13	A	T	2: 91,519,006 (GRCm39)	H146Q	possibly damaging	Het
Atmin	T	G	8: 117,684,661 (GRCm39)	F774V	possibly damaging	Het
Ccdc150	A	G	1: 54,395,863 (GRCm39)	D782G	probably damaging	Het
Ccdc86	A	G	19: 10,926,363 (GRCm39)	S79P	unknown	Het
Cd180	A	T	13: 102,842,451 (GRCm39)	E499V	probably damaging	Het
Cd24a	C	T	10: 43,458,747 (GRCm39)	H73Y	unknown	Het
Cdh17	C	T	4: 11,814,698 (GRCm39)	P751L	probably damaging	Het
Chil3	A	G	3: 106,056,122 (GRCm39)	L344S	possibly damaging	Het
Cspp1	A	G	1: 10,206,162 (GRCm39)	D1129G	probably benign	Het
Cyth1	C	A	11: 118,068,114 (GRCm39)	V288L	probably benign	Het
Ddx19a	A	T	8: 111,703,259 (GRCm39)		probably null	Het
Dpysl4	T	A	7: 138,679,689 (GRCm39)	Y520N	possibly damaging	Het
Eif4b	T	A	15: 101,997,129 (GRCm39)	M249K	unknown	Het
Enam	G	A	5: 88,650,884 (GRCm39)	D798N	probably benign	Het
Fcgbpl1	A	G	7: 27,839,470 (GRCm39)	K428E	probably benign	Het
Gldc	A	G	19: 30,096,067 (GRCm39)	V648A	probably damaging	Het
Gm7995	A	G	14: 42,133,308 (GRCm39)	I62V	possibly damaging	Het
Ice1	A	G	13: 70,737,916 (GRCm39)	V2177A	possibly damaging	Het
Kdm5a	T	A	6: 120,404,747 (GRCm39)	S1330T	probably benign	Het
Mon2	G	T	10: 122,841,931 (GRCm39)	P1553Q	probably benign	Het
Mylk	G	C	16: 34,699,894 (GRCm39)	S419T	probably benign	Het
Nphs1	T	A	7: 30,181,390 (GRCm39)		probably null	Het
Nsd1	A	G	13: 55,447,648 (GRCm39)	T1924A	probably damaging	Het
Obscn	T	A	11: 58,888,113 (GRCm39)		probably null	Het
Or11l3	A	T	11: 58,516,029 (GRCm39)	V281D	probably damaging	Het
Or52h9	T	C	7: 104,202,893 (GRCm39)	F256L	probably benign	Het
Or6c213	A	T	10: 129,574,070 (GRCm39)	C239S	probably damaging	Het
Or6c6	T	C	10: 129,187,326 (GRCm39)	V298A	probably benign	Het
Pcsk1	A	G	13: 75,280,329 (GRCm39)	D718G	possibly damaging	Het
Pitrm1	A	T	13: 6,605,444 (GRCm39)	N158I	probably damaging	Het
Pkd1l1	C	T	11: 8,897,296 (GRCm39)	V538M		Het
Prkdc	G	T	16: 15,555,807 (GRCm39)	G2194C	probably damaging	Het
Psmc5	T	C	11: 106,152,433 (GRCm39)	M150T	possibly damaging	Het
Rint1	T	C	5: 24,005,800 (GRCm39)	Y161H	probably damaging	Het
Sdk2	T	C	11: 113,684,563 (GRCm39)	K1966R	probably damaging	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Sp100	A	G	1: 85,619,764 (GRCm39)	K353E	possibly damaging	Het
Ssh1	T	C	5: 114,081,019 (GRCm39)	T804A	probably benign	Het
Vipr1	T	C	9: 121,482,905 (GRCm39)	L40P	possibly damaging	Het
Vmn1r7	A	G	6: 57,002,255 (GRCm39)	S2P	probably benign	Het
Vwa8	T	C	14: 79,172,669 (GRCm39)	S304P	probably damaging	Het
Zbed4	T	C	15: 88,665,924 (GRCm39)	M664T	probably damaging	Het

Other mutations in Sgcb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Sgcb	APN	5	73,793,021 (GRCm39)	missense	possibly damaging	0.92
IGL02504:Sgcb	APN	5	73,801,718 (GRCm39)	missense	probably damaging	0.96
IGL03330:Sgcb	APN	5	73,797,212 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Sgcb	UTSW	5	73,797,155 (GRCm39)	missense	probably damaging	0.99
R0708:Sgcb	UTSW	5	73,798,225 (GRCm39)	splice site	probably null
R1016:Sgcb	UTSW	5	73,797,183 (GRCm39)	missense	probably benign	0.18
R1119:Sgcb	UTSW	5	73,801,757 (GRCm39)	missense	probably damaging	1.00
R1293:Sgcb	UTSW	5	73,792,870 (GRCm39)	missense	probably benign	0.13
R1464:Sgcb	UTSW	5	73,792,896 (GRCm39)	missense	probably benign	0.05
R1464:Sgcb	UTSW	5	73,792,896 (GRCm39)	missense	probably benign	0.05
R2762:Sgcb	UTSW	5	73,793,052 (GRCm39)	splice site	probably null
R5499:Sgcb	UTSW	5	73,801,748 (GRCm39)	missense	probably damaging	0.99
R6120:Sgcb	UTSW	5	73,798,153 (GRCm39)	missense	possibly damaging	0.62
R6809:Sgcb	UTSW	5	73,798,036 (GRCm39)	missense	probably benign	0.03
R7484:Sgcb	UTSW	5	73,797,188 (GRCm39)	missense	possibly damaging	0.86
R8797:Sgcb	UTSW	5	73,793,036 (GRCm39)	missense	probably benign	0.00
R8939:Sgcb	UTSW	5	73,801,661 (GRCm39)	missense	probably damaging	0.98
R9394:Sgcb	UTSW	5	73,801,653 (GRCm39)	missense	probably benign	0.00
Z1177:Sgcb	UTSW	5	73,801,628 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AACTGCACATGCTCTGAAAGAAATG -3'
(R):5'- TAGTCCAGAGTTGAGACACCC -3'

Sequencing Primer
(F):5'- TTCCACATACTACTCCACAT -3'
(R):5'- GAGTTGAGACACCCCCTTC -3'

Posted On

2020-03-06