Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4445001:Sgcb'

555391

Institutional Source

Beutler Lab

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: 0.148) question?

Stock #

PIT4445001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73632749-73647790 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73639812 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 202 (V202I)

Ref Sequence

ENSEMBL: ENSMUSP00000079937 (fasta)

Gene Model

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

AlphaFold

P82349

Predicted Effect

probably damaging
Transcript: ENSMUST00000081170
AA Change: V202I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079937
Gene: ENSMUSG00000029156
AA Change: V202I

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

Coding Region Coverage

1x: 93.5%
3x: 90.8%
10x: 84.5%
20x: 70.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 110,075,551 (GRCm38)	K419E	probably damaging	Het
Adam7	T	A	14: 68,509,748 (GRCm38)	K587N	possibly damaging	Het
Agl	T	C	3: 116,771,460 (GRCm38)	M382V		Het
Agpat3	A	T	10: 78,274,093 (GRCm38)	F341I	possibly damaging	Het
Ampd2	A	T	3: 108,075,012 (GRCm38)	L767Q	probably damaging	Het
Arhgap28	A	T	17: 67,896,235 (GRCm38)	D124E	possibly damaging	Het
Arhgap32	T	C	9: 32,260,856 (GRCm38)	L1644P	probably damaging	Het
Asic4	T	C	1: 75,451,127 (GRCm38)	V99A	probably benign	Het
Asns	T	A	6: 7,689,277 (GRCm38)	N75I	probably damaging	Het
Atp10a	A	G	7: 58,803,467 (GRCm38)	D798G	probably damaging	Het
Atp8a1	A	G	5: 67,622,660 (GRCm38)	V1145A		Het
Ccdc171	A	G	4: 83,661,747 (GRCm38)	Q577R	probably damaging	Het
Cd247	T	A	1: 165,861,036 (GRCm38)	D154E	probably damaging	Het
Ceacam1	A	T	7: 25,476,456 (GRCm38)	N104K	probably damaging	Het
Chfr	A	G	5: 110,151,677 (GRCm38)	D312G	possibly damaging	Het
Ddb1	C	A	19: 10,625,970 (GRCm38)	L881I	probably damaging	Het
Dgkh	A	T	14: 78,575,942 (GRCm38)	I1032N	possibly damaging	Het
Efcab6	A	T	15: 83,904,267 (GRCm38)	V942D	probably benign	Het
Fmo5	A	G	3: 97,651,528 (GRCm38)	T435A	probably benign	Het
Fpr1	T	C	17: 17,876,893 (GRCm38)	Q278R	probably benign	Het
Fzr1	C	T	10: 81,369,394 (GRCm38)	W256*	probably null	Het
Gabrb1	T	C	5: 72,108,782 (GRCm38)	S261P	probably damaging	Het
Galr2	G	T	11: 116,281,648 (GRCm38)	A55S	probably benign	Het
Gbp2	A	T	3: 142,637,466 (GRCm38)	K581N	probably benign	Het
Gria1	A	T	11: 57,185,838 (GRCm38)	Y89F	probably damaging	Het
Ibsp	T	A	5: 104,302,304 (GRCm38)	I26N	possibly damaging	Het
Igf1r	T	C	7: 68,207,463 (GRCm38)	F1058L	probably damaging	Het
Ighv1-16	A	C	12: 114,666,060 (GRCm38)	C36G	probably benign	Het
Igll1	T	C	16: 16,860,919 (GRCm38)	T176A	probably benign	Het
Ilkap	T	C	1: 91,385,345 (GRCm38)	T143A	probably benign	Het
Kdm3b	A	T	18: 34,793,115 (GRCm38)	K103*	probably null	Het
Mphosph9	A	G	5: 124,298,790 (GRCm38)	I497T	possibly damaging	Het
Mrgpra3	G	A	7: 47,590,160 (GRCm38)	T6I	possibly damaging	Het
Mrpl38	T	C	11: 116,132,558 (GRCm38)		probably null	Het
Myo3a	A	T	2: 22,542,415 (GRCm38)	E813V	possibly damaging	Het
Myo7b	T	C	18: 31,962,352 (GRCm38)	K1851R	probably damaging	Het
Myo7b	G	T	18: 31,959,466 (GRCm38)	Q2093K	possibly damaging	Het
P3h2	T	A	16: 25,984,999 (GRCm38)	D339V	probably benign	Het
Pcdhb6	C	A	18: 37,335,247 (GRCm38)	P407Q	possibly damaging	Het
Plch2	C	A	4: 155,009,026 (GRCm38)	R153L	probably damaging	Het
Plppr4	G	A	3: 117,360,308 (GRCm38)		probably benign	Het
Ppp1r3a	A	G	6: 14,717,777 (GRCm38)	F1046S	probably damaging	Het
Pramel41	T	G	5: 94,448,507 (GRCm38)	W468G	probably benign	Het
Prkacb	A	T	3: 146,755,691 (GRCm38)	L107M	probably benign	Het
Ranbp17	A	G	11: 33,481,020 (GRCm38)		probably null	Het
Rasl11b	C	A	5: 74,197,333 (GRCm38)	P88Q	probably damaging	Het
Rcc2	A	G	4: 140,721,149 (GRCm38)	E503G	possibly damaging	Het
Rnf216	T	A	5: 143,086,003 (GRCm38)	K407N	probably damaging	Het
Rusf1	A	G	7: 128,276,534 (GRCm38)	V243A	probably benign	Het
Scrn3	G	A	2: 73,318,329 (GRCm38)	M81I	possibly damaging	Het
Scube2	T	C	7: 109,809,180 (GRCm38)	T687A	probably benign	Het
Serpinb10	T	A	1: 107,535,998 (GRCm38)	F3L	probably benign	Het
Sgce	A	G	6: 4,689,654 (GRCm38)	V429A	possibly damaging	Het
Sh3rf2	T	C	18: 42,153,164 (GRCm38)	V574A	probably benign	Het
Sncaip	T	C	18: 52,868,944 (GRCm38)	L179S	probably damaging	Het
Sntg2	A	T	12: 30,312,572 (GRCm38)	D58E	probably damaging	Het
Taar3	T	C	10: 23,949,688 (GRCm38)	I44T	possibly damaging	Het
Tmem87b	G	A	2: 128,831,471 (GRCm38)	V227I	probably benign	Het
Tnfsf9	T	C	17: 57,105,517 (GRCm38)	L29P	possibly damaging	Het
Tnip2	T	C	5: 34,496,871 (GRCm38)	H391R	probably benign	Het
Traf5	A	G	1: 191,997,807 (GRCm38)	Y125H		Het
Ttc23	T	G	7: 67,667,213 (GRCm38)	I77M	probably damaging	Het
Ube2l3	T	C	16: 17,160,172 (GRCm38)	N43S	probably benign	Het
Vars2	A	T	17: 35,666,211 (GRCm38)	C142*	probably null	Het
Vmn2r15	A	C	5: 109,287,142 (GRCm38)	D565E	probably damaging	Het
Vmn2r56	C	T	7: 12,715,226 (GRCm38)		probably null	Het
Vmn2r79	A	T	7: 87,002,200 (GRCm38)	D269V	possibly damaging	Het
Vmn2r85	A	T	10: 130,425,703 (GRCm38)	M255K	probably benign	Het
Wfdc6a	T	A	2: 164,579,826 (GRCm38)	*137C	probably null	Het
Wipi2	T	C	5: 142,666,884 (GRCm38)	V417A	probably benign	Het
Xirp2	G	T	2: 67,509,772 (GRCm38)	V786L	possibly damaging	Het
Zdhhc13	G	A	7: 48,795,949 (GRCm38)	G26S	probably benign	Het
Zscan25	T	A	5: 145,290,612 (GRCm38)	V362D	probably damaging	Het

Other mutations in Sgcb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Sgcb	APN	5	73,635,678 (GRCm38)	missense	possibly damaging	0.92
IGL02504:Sgcb	APN	5	73,644,375 (GRCm38)	missense	probably damaging	0.96
IGL03330:Sgcb	APN	5	73,639,869 (GRCm38)	missense	probably damaging	1.00
R0708:Sgcb	UTSW	5	73,640,882 (GRCm38)	splice site	probably null
R1016:Sgcb	UTSW	5	73,639,840 (GRCm38)	missense	probably benign	0.18
R1119:Sgcb	UTSW	5	73,644,414 (GRCm38)	missense	probably damaging	1.00
R1293:Sgcb	UTSW	5	73,635,527 (GRCm38)	missense	probably benign	0.13
R1464:Sgcb	UTSW	5	73,635,553 (GRCm38)	missense	probably benign	0.05
R1464:Sgcb	UTSW	5	73,635,553 (GRCm38)	missense	probably benign	0.05
R2762:Sgcb	UTSW	5	73,635,709 (GRCm38)	splice site	probably null
R5499:Sgcb	UTSW	5	73,644,405 (GRCm38)	missense	probably damaging	0.99
R6120:Sgcb	UTSW	5	73,640,810 (GRCm38)	missense	possibly damaging	0.62
R6809:Sgcb	UTSW	5	73,640,693 (GRCm38)	missense	probably benign	0.03
R7484:Sgcb	UTSW	5	73,639,845 (GRCm38)	missense	possibly damaging	0.86
R7647:Sgcb	UTSW	5	73,639,377 (GRCm38)	splice site	probably null
R8797:Sgcb	UTSW	5	73,635,693 (GRCm38)	missense	probably benign	0.00
R8939:Sgcb	UTSW	5	73,644,318 (GRCm38)	missense	probably damaging	0.98
R9394:Sgcb	UTSW	5	73,644,310 (GRCm38)	missense	probably benign	0.00
Z1177:Sgcb	UTSW	5	73,644,285 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CTCAACTCTGGACTATGCAAGGC -3'
(R):5'- CCCCAAGATTGTCTTCCAGC -3'

Sequencing Primer
(F):5'- GACTATGCAAGGCAGGCTTATAATTG -3'
(R):5'- ATTGTCTTCCAGCAAGGGAC -3'

Posted On

2019-06-07