Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02504:Sgcb'

296192

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sgcb

Ensembl Gene

ENSMUSG00000029156

Gene Name

sarcoglycan, beta (dystrophin-associated glycoprotein)

Synonyms

beta-SG

Accession Numbers

Essential gene?

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

Stock #

IGL02504

Quality Score

Status

Chromosome

Chromosomal Location

73790092-73805080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73801718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 49 (I49T)

Ref Sequence

ENSEMBL: ENSMUSP00000079937 (fasta)

Gene Model

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

AlphaFold

P82349

Predicted Effect

probably damaging
Transcript: ENSMUST00000081170
AA Change: I49T

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079937
Gene: ENSMUSG00000029156
AA Change: I49T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201845

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 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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	T	A	4: 126,411,232 (GRCm39)	N142I	probably benign	Het
Asf1b	A	G	8: 84,682,458 (GRCm39)	M1V	probably null	Het
Astn1	T	C	1: 158,329,978 (GRCm39)	C278R	probably damaging	Het
Ccdc162	A	T	10: 41,428,384 (GRCm39)	L692Q	probably damaging	Het
Cd207	T	A	6: 83,654,788 (GRCm39)		probably benign	Het
Chd5	T	A	4: 152,447,779 (GRCm39)	N548K	probably damaging	Het
Col7a1	G	A	9: 108,809,743 (GRCm39)	G2659D	unknown	Het
Cpa6	A	T	1: 10,559,144 (GRCm39)	Y75N	probably benign	Het
Cspg4	G	T	9: 56,793,056 (GRCm39)	V264L	probably benign	Het
Cyp3a25	T	A	5: 145,930,141 (GRCm39)	I155L	probably benign	Het
Dock6	A	G	9: 21,757,951 (GRCm39)	I51T	probably benign	Het
Dse	G	T	10: 34,028,796 (GRCm39)	Q765K	probably benign	Het
Fam219b	A	T	9: 57,445,351 (GRCm39)	M87L	probably benign	Het
Fat3	G	A	9: 15,871,094 (GRCm39)	R3766C	probably damaging	Het
Fcnb	A	C	2: 27,966,606 (GRCm39)	M309R	probably damaging	Het
Fnbp4	C	A	2: 90,598,887 (GRCm39)	N670K	probably damaging	Het
Fsip2	T	A	2: 82,809,199 (GRCm39)	N1839K	possibly damaging	Het
G6pc2	A	G	2: 69,056,939 (GRCm39)	H195R	probably damaging	Het
Gm14179	A	T	11: 99,634,003 (GRCm39)			Het
Grm5	A	G	7: 87,779,980 (GRCm39)	N1172S	probably benign	Het
Hsd17b14	A	G	7: 45,205,799 (GRCm39)	T64A	possibly damaging	Het
Hspb7	G	T	4: 141,149,131 (GRCm39)	E12D	probably benign	Het
Kdm2a	T	C	19: 4,406,799 (GRCm39)	N155D	possibly damaging	Het
Klhl24	A	T	16: 19,934,693 (GRCm39)	R389*	probably null	Het
Kmt2b	A	G	7: 30,285,968 (GRCm39)		probably benign	Het
Krt4	T	A	15: 101,827,727 (GRCm39)	I469F	unknown	Het
Mto1	A	T	9: 78,368,209 (GRCm39)	D451V	probably damaging	Het
Muc5b	A	T	7: 141,400,177 (GRCm39)	D477V	unknown	Het
Pcsk5	A	G	19: 17,455,236 (GRCm39)		probably null	Het
Ppil4	T	A	10: 7,696,748 (GRCm39)	Y420*	probably null	Het
Ppp2r5d	A	T	17: 47,011,019 (GRCm39)	D27E	probably benign	Het
Prkd2	T	C	7: 16,591,757 (GRCm39)	L596P	probably damaging	Het
Prr30	T	C	14: 101,436,056 (GRCm39)	I169V	probably benign	Het
Rtl9	A	T	X: 141,885,287 (GRCm39)	T900S	probably benign	Het
Sash1	A	G	10: 8,605,676 (GRCm39)	S905P	probably benign	Het
Scn2a	G	A	2: 65,514,228 (GRCm39)	G304D	probably benign	Het
Scp2d1	T	C	2: 144,665,877 (GRCm39)	L72P	probably damaging	Het
Septin2	T	A	1: 93,428,203 (GRCm39)	H166Q	probably benign	Het
Smyd4	T	A	11: 75,281,507 (GRCm39)	W327R	probably damaging	Het
Sptbn1	C	T	11: 30,092,293 (GRCm39)	E491K	probably damaging	Het
Tcaf1	A	T	6: 42,656,213 (GRCm39)	H254Q	probably benign	Het
Tll1	A	C	8: 64,523,271 (GRCm39)	D480E	possibly damaging	Het
Tlr3	G	A	8: 45,850,944 (GRCm39)	T127M	probably damaging	Het
Trio	A	T	15: 27,847,476 (GRCm39)	C929*	probably null	Het
Ttn	C	T	2: 76,628,494 (GRCm39)	W12809*	probably null	Het
Ugt2b35	T	A	5: 87,149,400 (GRCm39)	M217K	possibly damaging	Het
Unc13b	T	C	4: 43,263,031 (GRCm39)	V4261A	probably damaging	Het
Uqcrc2	T	C	7: 120,242,254 (GRCm39)	I82T	probably benign	Het
Usp21	A	G	1: 171,112,596 (GRCm39)	I266T	probably benign	Het
Veph1	A	T	3: 66,079,551 (GRCm39)	H321Q	probably damaging	Het
Vmn1r29	A	C	6: 58,284,655 (GRCm39)	Y125S	probably benign	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
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
R7647:Sgcb	UTSW	5	73,796,720 (GRCm39)	splice site	probably null
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

Posted On

2015-04-16