Mutagenetix > Incidental Mutation

Incidental Mutation 'R6301:Sgca'

509114

Institutional Source

Beutler Lab

Gene Symbol

Sgca

Ensembl Gene

ENSMUSG00000001508

Gene Name

sarcoglycan, alpha (dystrophin-associated glycoprotein)

Synonyms

50DAG, adhalin, Asg

MMRRC Submission

044466-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

R6301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94853617-94867153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 94863393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 28 (L28V)

Ref Sequence

ENSEMBL: ENSMUSP00000118455 (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: L28V

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098118
Gene: ENSMUSG00000001508
AA Change: L28V

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: L28V

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099451
Gene: ENSMUSG00000001508
AA Change: L28V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000139855

SMART Domains

Protein: ENSMUSP00000117637
Gene: ENSMUSG00000001508

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000152042
AA Change: L28V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118455
Gene: ENSMUSG00000001508
AA Change: L28V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166320
AA Change: L28V

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130617
Gene: ENSMUSG00000001508
AA Change: L28V

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (66/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	C	T	4: 144,285,224 (GRCm39)	A138T	probably damaging	Het
Acot10	T	C	15: 20,666,348 (GRCm39)	N131S	probably benign	Het
Agbl5	A	G	5: 31,049,177 (GRCm39)	Y220C	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Ap3b1	A	T	13: 94,664,803 (GRCm39)	Q914L	unknown	Het
Arhgef25	T	C	10: 127,021,751 (GRCm39)	D216G	possibly damaging	Het
Bcas2	T	A	3: 103,079,187 (GRCm39)		probably benign	Het
Bpifb5	A	C	2: 154,072,139 (GRCm39)	H282P	possibly damaging	Het
Ccdc121rt2	A	T	5: 112,598,334 (GRCm39)	I294F	possibly damaging	Het
Ccdc167	A	G	17: 29,924,556 (GRCm39)	I15T	probably damaging	Het
Cd248	A	G	19: 5,120,009 (GRCm39)	N619S	probably benign	Het
Chrna1	A	G	2: 73,400,828 (GRCm39)	F234S	possibly damaging	Het
Clcc1	T	G	3: 108,580,682 (GRCm39)	M332R	probably damaging	Het
Cmklr1	T	A	5: 113,752,999 (GRCm39)	M1L	possibly damaging	Het
Cntnap5c	A	G	17: 58,199,032 (GRCm39)	M109V	probably benign	Het
Coq2	A	G	5: 100,809,729 (GRCm39)	I18T	possibly damaging	Het
Crybg3	T	C	16: 59,350,701 (GRCm39)	S880G	probably damaging	Het
Cubn	A	G	2: 13,482,889 (GRCm39)	C286R	probably damaging	Het
Defa24	T	C	8: 22,225,299 (GRCm39)	V63A	probably benign	Het
Dnah6	C	T	6: 73,063,200 (GRCm39)	R2634H	probably damaging	Het
Dusp8	T	A	7: 141,636,756 (GRCm39)		probably null	Het
Elac1	T	C	18: 73,871,939 (GRCm39)	D352G	probably damaging	Het
Ermap	A	T	4: 119,042,800 (GRCm39)	V241E	probably damaging	Het
Fgf10	T	A	13: 118,852,047 (GRCm39)	M43K	probably benign	Het
Gabrd	A	G	4: 155,471,724 (GRCm39)	V193A	probably damaging	Het
Hectd4	T	G	5: 121,392,283 (GRCm39)	C182W	possibly damaging	Het
Hook3	C	T	8: 26,524,968 (GRCm39)	W26*	probably null	Het
Kif1a	C	A	1: 92,982,663 (GRCm39)	E714*	probably null	Het
Krt6b	T	C	15: 101,587,386 (GRCm39)	E236G	probably damaging	Het
Large2	A	G	2: 92,199,861 (GRCm39)	L209P	probably damaging	Het
Lats1	A	G	10: 7,578,871 (GRCm39)	N665S	probably benign	Het
Lrrc37	A	T	11: 103,509,756 (GRCm39)		probably benign	Het
Lrrtm3	T	C	10: 63,925,001 (GRCm39)	I55M	probably benign	Het
Ltk	A	G	2: 119,582,238 (GRCm39)	S838P	probably damaging	Het
Ltn1	T	C	16: 87,217,194 (GRCm39)	I348V	probably benign	Het
Mag	T	A	7: 30,600,104 (GRCm39)	S559C	probably damaging	Het
Mink1	A	G	11: 70,503,120 (GRCm39)	H1072R	possibly damaging	Het
Mycbp2	T	A	14: 103,392,862 (GRCm39)	Q833L	probably damaging	Het
Myh4	G	A	11: 67,146,159 (GRCm39)	E1406K	possibly damaging	Het
Npc1	C	T	18: 12,330,302 (GRCm39)	V950I	probably benign	Het
Npl	A	G	1: 153,394,627 (GRCm39)		probably null	Het
Or10w3	A	G	19: 13,703,753 (GRCm39)	I43V	probably benign	Het
Or11g27	T	A	14: 50,771,711 (GRCm39)	F281I	probably benign	Het
Or2m13	A	T	16: 19,226,167 (GRCm39)	F200I	possibly damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Oxsm	A	T	14: 16,242,220 (GRCm38)	I183N	probably damaging	Het
Pde7a	T	C	3: 19,297,327 (GRCm39)	I108V	probably benign	Het
Pgghg	A	T	7: 140,526,289 (GRCm39)	T585S	probably damaging	Het
Pkhd1l1	G	A	15: 44,452,921 (GRCm39)	D3949N	probably damaging	Het
Ralgapa2	A	T	2: 146,169,331 (GRCm39)	H1777Q	possibly damaging	Het
Rela	G	A	19: 5,695,438 (GRCm39)		probably null	Het
Rilpl1	C	A	5: 124,652,602 (GRCm39)	G41W	probably damaging	Het
Rp1	T	C	1: 4,417,477 (GRCm39)	K1212E	probably benign	Het
Ssmem1	A	G	6: 30,519,758 (GRCm39)	R148G	probably damaging	Het
St8sia5	A	T	18: 77,333,836 (GRCm39)	N165Y	probably damaging	Het
Tbl2	A	T	5: 135,188,223 (GRCm39)	H339L	probably benign	Het
Tcof1	G	A	18: 60,961,897 (GRCm39)	P718L	probably damaging	Het
Trim72	A	T	7: 127,603,786 (GRCm39)	E44V	possibly damaging	Het
Try10	T	A	6: 41,332,523 (GRCm39)	S60T	probably benign	Het
Usp31	A	T	7: 121,247,499 (GRCm39)	S1315T	possibly damaging	Het
Xrn2	A	G	2: 146,905,262 (GRCm39)	I856V	probably benign	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
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
R7121:Sgca	UTSW	11	94,860,373 (GRCm39)	missense	possibly damaging	0.64
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'- AGCCAGGGTTATAGGGACTG -3'
(R):5'- AGAAGTCTGGGTCCTGTCAC -3'

Sequencing Primer
(F):5'- TGTGTAGTGCAGCCACCTG -3'
(R):5'- AGCAGAGTAGGATCTATACCCC -3'

Posted On

2018-04-02