Mutagenetix > Incidental Mutation

Incidental Mutation 'R4110:Sgca'

317262

Institutional Source

Beutler Lab

Gene Symbol

Sgca

Ensembl Gene

ENSMUSG00000001508

Gene Name

sarcoglycan, alpha (dystrophin-associated glycoprotein)

Synonyms

50DAG, adhalin, Asg

MMRRC Submission

040988-MU

Accession Numbers

Essential gene?

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

Stock #

R4110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94853617-94867153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94863396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 27 (T27A)

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: T27A

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000098118
Gene: ENSMUSG00000001508
AA Change: T27A

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: T27A

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099451
Gene: ENSMUSG00000001508
AA Change: T27A

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

possibly damaging
Transcript: ENSMUST00000152042
AA Change: T27A

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118455
Gene: ENSMUSG00000001508
AA Change: T27A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166320
AA Change: T27A

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130617
Gene: ENSMUSG00000001508
AA Change: T27A

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

0.1644

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.3%
20x: 95.6%

Validation Efficiency

100% (61/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Acot10	A	T	15: 20,666,612 (GRCm39)	L43Q	probably damaging	Het
Alms1	G	A	6: 85,597,870 (GRCm39)	V1368I	probably benign	Het
Als2cl	T	C	9: 110,713,115 (GRCm39)	S2P	probably benign	Het
AW209491	T	C	13: 14,812,158 (GRCm39)	V337A	probably damaging	Het
Bace2	A	G	16: 97,237,856 (GRCm39)	T436A	probably benign	Het
BC023105	A	G	18: 60,575,356 (GRCm39)		noncoding transcript	Het
Blvra	T	C	2: 126,937,075 (GRCm39)	V176A	probably damaging	Het
Casp2	G	A	6: 42,244,828 (GRCm39)	A76T	probably damaging	Het
Ccdc88c	A	G	12: 100,911,332 (GRCm39)	L34P	probably damaging	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Col6a2	T	A	10: 76,442,003 (GRCm39)		probably null	Het
Cse1l	T	C	2: 166,783,970 (GRCm39)	Y488H	probably benign	Het
Dip2c	G	T	13: 9,687,137 (GRCm39)	G1254C	probably damaging	Het
Dnajb12	T	A	10: 59,730,136 (GRCm39)	S270R	possibly damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Dscaml1	G	A	9: 45,643,366 (GRCm39)	A1262T	probably benign	Het
Dtwd2	A	C	18: 49,831,373 (GRCm39)		probably benign	Het
Fadd	C	A	7: 144,134,488 (GRCm39)	K132N	possibly damaging	Het
Fndc3c1	T	C	X: 105,487,897 (GRCm39)	N462S	probably benign	Het
Fzd3	A	G	14: 65,472,616 (GRCm39)	V384A	probably benign	Het
Gm6370	T	C	5: 146,430,702 (GRCm39)	S296P	probably benign	Het
Gsdmc	T	A	15: 63,651,876 (GRCm39)	H245L	probably benign	Het
H13	T	C	2: 152,523,029 (GRCm39)	I114T	probably damaging	Het
Hhipl2	A	G	1: 183,204,920 (GRCm39)	R78G	probably benign	Het
Hrh3	C	A	2: 179,744,643 (GRCm39)	R99L	possibly damaging	Het
Ldc1	A	T	4: 130,112,967 (GRCm39)	L143Q	probably damaging	Het
Man2c1	A	G	9: 57,044,055 (GRCm39)	N330S	probably damaging	Het
Muc19	T	A	15: 91,781,816 (GRCm39)		noncoding transcript	Het
Myh14	T	G	7: 44,277,974 (GRCm39)	M1092L	probably benign	Het
Neb	A	G	2: 52,038,778 (GRCm39)	I2899T	probably benign	Het
Neb	T	A	2: 52,134,137 (GRCm39)	Q3282L	probably damaging	Het
Nqo2	A	T	13: 34,163,620 (GRCm39)	Q93L	probably benign	Het
Or13a18	T	A	7: 140,190,178 (GRCm39)	L33Q	possibly damaging	Het
Or13a18	C	A	7: 140,190,177 (GRCm39)	L33M	probably benign	Het
Or4a2	C	A	2: 89,248,444 (GRCm39)	L104F	probably benign	Het
Or51i2	T	C	7: 103,689,609 (GRCm39)	V202A	probably damaging	Het
Pcsk1	A	G	13: 75,244,488 (GRCm39)	N122S	probably damaging	Het
Pdzrn4	A	G	15: 92,668,745 (GRCm39)	I966V	probably benign	Het
Phldb1	G	A	9: 44,627,128 (GRCm39)	T439I	possibly damaging	Het
Pign	A	G	1: 105,481,540 (GRCm39)		probably benign	Het
Pkn1	A	T	8: 84,417,828 (GRCm39)	D120E	probably benign	Het
Ptpru	A	G	4: 131,546,348 (GRCm39)	Y301H	probably damaging	Het
Raly	C	T	2: 154,699,378 (GRCm39)	Q61*	probably null	Het
Rpl24	T	C	16: 55,791,723 (GRCm39)	V148A	probably benign	Het
S100a16	A	G	3: 90,449,379 (GRCm39)	N18S	probably damaging	Het
Sec31b	G	T	19: 44,512,968 (GRCm39)	T507N	possibly damaging	Het
Slc22a12	C	A	19: 6,590,658 (GRCm39)	R203L	probably damaging	Het
Ssbp3	C	A	4: 106,904,393 (GRCm39)		probably benign	Het
Sucnr1	C	G	3: 59,994,215 (GRCm39)	R248G	probably damaging	Het
Tbr1	C	T	2: 61,642,076 (GRCm39)	P184L	probably benign	Het
Thsd7b	A	T	1: 130,044,356 (GRCm39)	D1112V	probably benign	Het
Tnc	A	G	4: 63,933,188 (GRCm39)	V692A	probably damaging	Het
Top2a	C	A	11: 98,913,786 (GRCm39)	K18N	probably damaging	Het
Topbp1	G	T	9: 103,187,158 (GRCm39)	R121L	probably damaging	Het
Unc79	T	C	12: 103,025,629 (GRCm39)	C339R	probably damaging	Het
Wdfy3	C	T	5: 102,047,924 (GRCm39)		probably null	Het
Zbtb3	G	C	19: 8,780,384 (GRCm39)		probably benign	Het
Zfp715	T	A	7: 42,947,304 (GRCm39)	K885N	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
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
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'- TACACAGCAGAGTAGGATCTATACC -3'

Posted On

2015-05-15