Mutagenetix > Incidental Mutation

Incidental Mutation 'R7197:Sgca'

574638

Institutional Source

Beutler Lab

Gene Symbol

Sgca

Ensembl Gene

ENSMUSG00000001508

Gene Name

sarcoglycan, alpha (dystrophin-associated glycoprotein)

Synonyms

50DAG, adhalin, Asg

MMRRC Submission

045276-MU

Accession Numbers

Essential gene?

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

Stock #

R7197 (G1)

Quality Score

98.0078

Status

Validated

Chromosome

Chromosomal Location

94853617-94867153 bp(-) (GRCm39)

Type of Mutation

splice site (214 bp from exon)

DNA Base Change (assembly)

C to T at 94864014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130617 (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

probably null
Transcript: ENSMUST00000100551

SMART Domains

Protein: ENSMUSP00000098118
Gene: ENSMUSG00000001508

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

Predicted Effect

probably null
Transcript: ENSMUST00000103162

SMART Domains

Protein: ENSMUSP00000099451
Gene: ENSMUSG00000001508

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 null
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

probably null
Transcript: ENSMUST00000166320

SMART Domains

Protein: ENSMUSP00000130617
Gene: ENSMUSG00000001508

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	AGCTTCCCTGCTT	AGCTT	9: 57,165,505 (GRCm39)		probably null	Het
Aars2	T	C	17: 45,819,885 (GRCm39)	Y221H	probably damaging	Het
Abca8b	G	A	11: 109,836,648 (GRCm39)	R1216*	probably null	Het
Acad8	A	T	9: 26,888,967 (GRCm39)		probably null	Het
Acer2	A	G	4: 86,805,287 (GRCm39)	T84A	probably null	Het
Adgrb2	A	G	4: 129,903,315 (GRCm39)	N613S	probably damaging	Het
Arap2	T	C	5: 62,798,729 (GRCm39)	D1300G	possibly damaging	Het
Castor1	T	C	11: 4,168,949 (GRCm39)	C39R	probably damaging	Het
Ccl11	A	T	11: 81,948,665 (GRCm39)		probably benign	Het
Cfh	A	T	1: 140,016,505 (GRCm39)	Y1151*	probably null	Het
Cobll1	A	G	2: 64,928,882 (GRCm39)	S815P	probably benign	Het
Cryz	T	C	3: 154,327,205 (GRCm39)	S240P	probably damaging	Het
Csmd2	A	G	4: 128,404,826 (GRCm39)	Y2404C		Het
F13a1	T	C	13: 37,100,860 (GRCm39)	D428G	probably damaging	Het
Fbxo42	A	G	4: 140,927,396 (GRCm39)	S559G	probably benign	Het
Fry	A	G	5: 150,393,232 (GRCm39)	S263G		Het
Fshr	C	T	17: 89,292,897 (GRCm39)	A594T	probably damaging	Het
Gm1527	A	G	3: 28,980,690 (GRCm39)	M597V	probably null	Het
Gpr158	A	T	2: 21,815,412 (GRCm39)	T602S	probably damaging	Het
Hmgxb4	C	A	8: 75,756,624 (GRCm39)	T583K	probably damaging	Het
Igkv8-30	C	T	6: 70,094,069 (GRCm39)	C114Y	probably damaging	Het
Igsf5	T	A	16: 96,204,546 (GRCm39)	N366K	probably damaging	Het
Kif15	T	C	9: 122,838,991 (GRCm39)		probably null	Het
Klk1b26	T	A	7: 43,665,821 (GRCm39)		probably null	Het
Lama1	G	T	17: 68,044,700 (GRCm39)	E200*	probably null	Het
Lpar5	C	T	6: 125,059,347 (GRCm39)	T356I	probably benign	Het
Lrch3	A	T	16: 32,810,665 (GRCm39)	T538S	probably damaging	Het
Mansc4	A	G	6: 146,977,203 (GRCm39)	S138P	probably damaging	Het
Mief1	T	C	15: 80,134,061 (GRCm39)	S373P	possibly damaging	Het
Nbas	G	T	12: 13,570,751 (GRCm39)	V2053F	possibly damaging	Het
Nek11	T	C	9: 105,121,614 (GRCm39)	E435G	probably damaging	Het
Nynrin	A	T	14: 56,109,380 (GRCm39)	I1496F	probably benign	Het
Odf1	A	T	15: 38,219,794 (GRCm39)	M41L	probably benign	Het
Or10a5	A	G	7: 106,635,364 (GRCm39)	M8V	probably benign	Het
Or4c115	A	G	2: 88,927,626 (GRCm39)	V215A	probably benign	Het
Or4c29	A	T	2: 88,740,708 (GRCm39)	F10I	probably benign	Het
Or7h8	T	G	9: 20,123,851 (GRCm39)	S69A	probably benign	Het
Oxnad1	T	C	14: 31,818,473 (GRCm39)	V106A	possibly damaging	Het
Padi4	C	A	4: 140,488,969 (GRCm39)	E157*	probably null	Het
Parp10	A	T	15: 76,126,616 (GRCm39)	F217L	probably damaging	Het
Pcdhb18	T	A	18: 37,623,436 (GRCm39)	S255R	probably benign	Het
Pde4c	G	T	8: 71,197,978 (GRCm39)	G102W	probably damaging	Het
Pde6a	T	C	18: 61,391,295 (GRCm39)	Y547H	probably damaging	Het
Phf11b	A	T	14: 59,563,507 (GRCm39)	L137I	probably benign	Het
Pigh	A	C	12: 79,130,463 (GRCm39)	I134S	probably damaging	Het
Pigt	G	A	2: 164,344,436 (GRCm39)	V362M	probably damaging	Het
Pld1	A	G	3: 28,078,401 (GRCm39)	D20G	probably damaging	Het
Pou3f2	T	C	4: 22,487,288 (GRCm39)	R282G	probably damaging	Het
Ppp2r5d	A	G	17: 46,996,527 (GRCm39)	V382A	probably damaging	Het
Prdm16	T	C	4: 154,425,967 (GRCm39)	E606G	probably damaging	Het
Psg28	A	G	7: 18,164,509 (GRCm39)	Y68H	probably damaging	Het
Qpctl	C	A	7: 18,882,944 (GRCm39)	W56L	probably damaging	Het
Rab11fip5	G	A	6: 85,319,137 (GRCm39)	P584L	probably damaging	Het
Sde2	C	T	1: 180,678,843 (GRCm39)	H36Y	probably benign	Het
Sema4d	T	C	13: 51,856,872 (GRCm39)	S787G	probably benign	Het
Shroom3	A	G	5: 93,090,463 (GRCm39)	E1071G	probably damaging	Het
Skint5	A	G	4: 113,437,679 (GRCm39)		probably null	Het
Slc44a3	T	A	3: 121,319,411 (GRCm39)	D110V	probably benign	Het
Slc4a4	A	C	5: 89,082,433 (GRCm39)		probably benign	Het
Slc4a8	A	G	15: 100,688,857 (GRCm39)	D389G	probably damaging	Het
Sp3	C	G	2: 72,809,953 (GRCm39)	E11Q	probably benign	Het
Srrm2	A	G	17: 24,037,198 (GRCm39)	S1281G	unknown	Het
Tat	A	T	8: 110,723,459 (GRCm39)	I316F	probably benign	Het
Thoc5	A	G	11: 4,865,563 (GRCm39)	T381A	probably benign	Het
Tiam1	T	C	16: 89,681,826 (GRCm39)	Y384C	probably damaging	Het
Tmem45a	A	T	16: 56,632,026 (GRCm39)	F197L	probably damaging	Het
Trav8d-1	A	G	14: 53,016,435 (GRCm39)	Y107C	probably damaging	Het
Trim10	T	A	17: 37,187,846 (GRCm39)	V354D	probably damaging	Het
Unc45b	A	T	11: 82,831,013 (GRCm39)		probably null	Het
Unc79	A	G	12: 103,078,765 (GRCm39)	I1643M	probably benign	Het
Unc80	G	T	1: 66,560,725 (GRCm39)	G818*	probably null	Het
Usp15	A	T	10: 122,966,910 (GRCm39)	M470K	possibly damaging	Het
Vldlr	T	C	19: 27,212,241 (GRCm39)	V85A	probably benign	Het
Vma21-ps	A	G	4: 52,496,994 (GRCm39)	V84A	probably benign	Het
Vmn2r67	C	T	7: 84,785,774 (GRCm39)	V744I	possibly damaging	Het
Wdr73	A	G	7: 80,542,946 (GRCm39)	C221R	probably benign	Het
Zxdc	C	T	6: 90,355,819 (GRCm39)	H443Y	probably 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
R7121:Sgca	UTSW	11	94,860,373 (GRCm39)	missense	possibly damaging	0.64
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'- AGCTTTAGGCCAATAGGAGCC -3'
(R):5'- ACTTGGATACCTCTCCTGGC -3'

Sequencing Primer
(F):5'- CCAGCAAAGCGGACTTGC -3'
(R):5'- ATACCTCTCCTGGCAGGCAAG -3'

Posted On

2019-09-26