Mutagenetix > Incidental Mutation

Incidental Mutation 'R7121:Sgca'

552026

Institutional Source

Beutler Lab

Gene Symbol

Sgca

Ensembl Gene

ENSMUSG00000001508

Gene Name

sarcoglycan, alpha (dystrophin-associated glycoprotein)

Synonyms

50DAG, adhalin, Asg

MMRRC Submission

045210-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R7121 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94853617-94867153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94860373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 255 (P255S)

Ref Sequence

ENSEMBL: ENSMUSP00000098118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038928] [ENSMUST00000100551] [ENSMUST00000103162] [ENSMUST00000139855] [ENSMUST00000152042] [ENSMUST00000166320]

AlphaFold

P82350

Predicted Effect

probably benign
Transcript: ENSMUST00000038928

SMART Domains

Protein: ENSMUSP00000039866
Gene: ENSMUSG00000038994

Domain	Start	End	E-Value	Type
Pfam:Linker_histone	35	106	5.9e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100551
AA Change: P255S

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000098118
Gene: ENSMUSG00000001508
AA Change: P255S

Domain	Start	End	E-Value	Type
CADG	27	131	2.14e-10	SMART
low complexity region	287	309	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103162
AA Change: P255S

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099451
Gene: ENSMUSG00000001508
AA Change: P255S

Domain	Start	End	E-Value	Type
CADG	27	131	2.14e-10	SMART
low complexity region	287	309	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139855
AA Change: P8S

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117637
Gene: ENSMUSG00000001508
AA Change: P8S

Domain	Start	End	E-Value	Type
Pfam:Sarcoglycan_2	1	140	2.1e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152042

SMART Domains

Protein: ENSMUSP00000118455
Gene: ENSMUSG00000001508

Domain	Start	End	E-Value	Type
Pfam:Sarcoglycan_2	6	100	5.9e-34	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166320
AA Change: P255S

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130617
Gene: ENSMUSG00000001508
AA Change: P255S

Domain	Start	End	E-Value	Type
CADG	27	131	2.14e-10	SMART
low complexity region	287	309	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: This gene encodes a member of the sarcoglycan alpha/epsilon family of transmembrane proteins. The encoded protein is part of the dystrophin-glycoprotein complex which links the extracellular matrix to the cytoskeleton in muscle fibers. Disruption of this gene results in progressive muscular dystrophy and is associated with the development of embryonal rhabdomysarcoma. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous mutation of this gene results in muscle abnormalities, with decreased skeletal muscle force and stiffness and muscular dystrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	C	T	19: 42,041,112 (GRCm39)	A81V	probably benign	Het
Abcc9	A	T	6: 142,634,853 (GRCm39)	L137*	probably null	Het
Akap10	A	G	11: 61,777,524 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,601,604 (GRCm39)	Y1683N	probably damaging	Het
Atl1	A	G	12: 69,978,408 (GRCm39)	S127G	probably damaging	Het
Cadm1	G	A	9: 47,710,708 (GRCm39)	V204M	probably damaging	Het
Cbr3	T	A	16: 93,487,438 (GRCm39)	I207N	probably damaging	Het
Ccdc148	A	T	2: 58,717,579 (GRCm39)	Y475N	probably damaging	Het
Ccdc33	A	T	9: 57,988,167 (GRCm39)	S144T	probably benign	Het
Ceacam5	C	A	7: 17,479,462 (GRCm39)	A193E	probably benign	Het
Chd2	T	C	7: 73,119,418 (GRCm39)	D1042G	probably benign	Het
Chmp5	A	T	4: 40,952,217 (GRCm39)		probably null	Het
Clca3a1	T	A	3: 144,717,567 (GRCm39)	N467I	probably damaging	Het
D130040H23Rik	T	C	8: 69,754,931 (GRCm39)	V112A	probably damaging	Het
Dbh	A	T	2: 27,058,318 (GRCm39)	D162V	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnm2	C	T	9: 21,385,862 (GRCm39)	T295I	probably benign	Het
Faiml	A	C	9: 99,116,446 (GRCm39)	D81E	probably benign	Het
Fer1l4	T	A	2: 155,886,477 (GRCm39)	Y720F	probably benign	Het
Fn1	A	C	1: 71,639,697 (GRCm39)		probably benign	Het
Ftsj3	T	C	11: 106,143,123 (GRCm39)	E397G	probably damaging	Het
Gm16506	T	C	14: 43,964,817 (GRCm39)	K42E		Het
Gpr179	A	G	11: 97,225,556 (GRCm39)	S2200P	probably benign	Het
Gusb	T	C	5: 130,028,884 (GRCm39)	D202G	probably benign	Het
Hspe1	A	G	1: 55,128,310 (GRCm39)	E35G	probably damaging	Het
Kptn	T	A	7: 15,857,023 (GRCm39)	H170Q	probably damaging	Het
Lama3	G	A	18: 12,595,839 (GRCm39)	A923T	probably benign	Het
Lmo7	T	A	14: 102,124,471 (GRCm39)	I432K	probably damaging	Het
Maneal	G	A	4: 124,750,905 (GRCm39)	P284S	probably benign	Het
Mrgbp	A	G	2: 180,224,682 (GRCm39)	T28A	probably benign	Het
Myo1h	T	C	5: 114,476,290 (GRCm39)	V493A		Het
Naxd	T	C	8: 11,556,745 (GRCm39)	L122P	probably damaging	Het
Neto2	T	C	8: 86,397,020 (GRCm39)		probably null	Het
Obscn	T	A	11: 58,904,078 (GRCm39)	R7299*	probably null	Het
Odf2l	G	A	3: 144,845,581 (GRCm39)	V363I	possibly damaging	Het
Or2g25	T	C	17: 37,970,699 (GRCm39)	H175R	probably damaging	Het
Or2t35	A	G	14: 14,407,998 (GRCm38)	T257A	possibly damaging	Het
Or4c100	A	T	2: 88,356,170 (GRCm39)	D81V	probably damaging	Het
Or52a5b	A	T	7: 103,416,940 (GRCm39)	Y221*	probably null	Het
Or5b105	T	A	19: 13,080,537 (GRCm39)	I44F	probably benign	Het
Otud3	G	A	4: 138,624,067 (GRCm39)	P325L	probably benign	Het
Palb2	T	C	7: 121,724,057 (GRCm39)	N564S	probably benign	Het
Pcnt	A	G	10: 76,263,761 (GRCm39)	V401A	possibly damaging	Het
Plcd4	G	A	1: 74,604,524 (GRCm39)	E767K	probably benign	Het
Ppp3ca	T	C	3: 136,574,387 (GRCm39)	F95S	probably damaging	Het
Prkar2a	A	G	9: 108,569,821 (GRCm39)	T56A	probably benign	Het
Psma2	T	A	13: 14,799,815 (GRCm39)	D186E	probably benign	Het
Psmd11	T	A	11: 80,329,099 (GRCm39)	Y72*	probably null	Het
Ror1	G	A	4: 100,160,142 (GRCm39)	D53N	probably benign	Het
Rubcn	C	T	16: 32,656,839 (GRCm39)	R527Q	probably damaging	Het
Skint11	A	T	4: 114,084,993 (GRCm39)	R167S	probably benign	Het
Slco5a1	A	G	1: 13,060,661 (GRCm39)	V20A	probably benign	Het
Snai2	T	C	16: 14,524,970 (GRCm39)	S159P	probably benign	Het
Taar2	T	G	10: 23,816,725 (GRCm39)	S88R	probably damaging	Het
Tacc3	T	A	5: 33,824,509 (GRCm39)	N378K	possibly damaging	Het
Tek	A	G	4: 94,699,647 (GRCm39)	K342E	probably benign	Het
Tm9sf3	G	T	19: 41,233,944 (GRCm39)	S198*	probably null	Het
Tmbim4	T	A	10: 120,051,514 (GRCm39)	F56I	possibly damaging	Het
Tsen34	T	A	7: 3,697,986 (GRCm39)	S85T	probably benign	Het
Ttc27	C	A	17: 75,054,710 (GRCm39)	Q339K	probably benign	Het
Ubap2	G	T	4: 41,205,550 (GRCm39)	P636T	probably benign	Het
Ubr1	G	A	2: 120,705,979 (GRCm39)	L1495F	probably benign	Het
Vsig10	T	C	5: 117,481,967 (GRCm39)	S386P	probably damaging	Het
Wnk2	C	A	13: 49,300,653 (GRCm39)	R19L	probably benign	Het
Wsb2	T	C	5: 117,508,944 (GRCm39)	L126P	probably damaging	Het
Xylb	A	G	9: 119,211,358 (GRCm39)	I402V	probably benign	Het
Yrdc	A	G	4: 124,744,748 (GRCm39)	S61G	probably benign	Het
Zbtb3	A	G	19: 8,780,771 (GRCm39)	D128G	probably damaging	Het
Zfp423	C	T	8: 88,507,489 (GRCm39)	G952R	probably damaging	Het
Zfp646	A	G	7: 127,478,944 (GRCm39)	T374A	possibly damaging	Het

Other mutations in Sgca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Sgca	APN	11	94,863,113 (GRCm39)	missense	probably damaging	1.00
IGL01479:Sgca	APN	11	94,854,204 (GRCm39)	nonsense	probably null
IGL02153:Sgca	APN	11	94,854,110 (GRCm39)	missense	probably damaging	1.00
IGL02713:Sgca	APN	11	94,862,131 (GRCm39)	missense	probably damaging	1.00
IGL02928:Sgca	APN	11	94,863,129 (GRCm39)	missense	probably damaging	1.00
IGL03185:Sgca	APN	11	94,861,610 (GRCm39)	missense	probably benign	0.00
R0602:Sgca	UTSW	11	94,854,061 (GRCm39)	missense	possibly damaging	0.94
R0834:Sgca	UTSW	11	94,861,512 (GRCm39)	nonsense	probably null
R1547:Sgca	UTSW	11	94,860,259 (GRCm39)	missense	probably damaging	1.00
R1703:Sgca	UTSW	11	94,860,217 (GRCm39)	missense	probably damaging	0.97
R4110:Sgca	UTSW	11	94,863,396 (GRCm39)	missense	possibly damaging	0.63
R4112:Sgca	UTSW	11	94,863,396 (GRCm39)	missense	possibly damaging	0.63
R4796:Sgca	UTSW	11	94,861,553 (GRCm39)	splice site	probably null
R5301:Sgca	UTSW	11	94,854,157 (GRCm39)	missense	probably damaging	1.00
R6301:Sgca	UTSW	11	94,863,393 (GRCm39)	missense	probably damaging	1.00
R6347:Sgca	UTSW	11	94,862,854 (GRCm39)	missense	probably damaging	1.00
R6510:Sgca	UTSW	11	94,854,058 (GRCm39)	missense	probably benign	0.36
R7110:Sgca	UTSW	11	94,854,227 (GRCm39)	critical splice acceptor site	probably null
R7197:Sgca	UTSW	11	94,864,014 (GRCm39)	splice site	probably null
R7496:Sgca	UTSW	11	94,862,070 (GRCm39)	missense	possibly damaging	0.94
R8383:Sgca	UTSW	11	94,863,068 (GRCm39)	missense	probably benign	0.00
Z1177:Sgca	UTSW	11	94,860,340 (GRCm39)	missense	possibly damaging	0.55
Z1177:Sgca	UTSW	11	94,860,339 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TTTAGATGCGTCAATGTGCCC -3'
(R):5'- TCTGTAGTCACATGGGCTAGAGG -3'

Sequencing Primer
(F):5'- GTCAATGTGCCCTGTCCAG -3'
(R):5'- TCACATGGGCTAGAGGAGATG -3'

Posted On

2019-05-15