Mutagenetix > Incidental Mutation

Incidental Mutation 'R0834:Sgca'

77749

Institutional Source

Beutler Lab

Gene Symbol

Sgca

Ensembl Gene

ENSMUSG00000001508

Gene Name

sarcoglycan, alpha (dystrophin-associated glycoprotein)

Synonyms

50DAG, adhalin, Asg

MMRRC Submission

039013-MU

Accession Numbers

Essential gene?

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

Stock #

R0834 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94853617-94867153 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 94861512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 244 (W244*)

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
AA Change: W244*

SMART Domains

Protein: ENSMUSP00000098118
Gene: ENSMUSG00000001508
AA Change: W244*

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
AA Change: W244*

SMART Domains

Protein: ENSMUSP00000099451
Gene: ENSMUSG00000001508
AA Change: W244*

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 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

probably null
Transcript: ENSMUST00000166320
AA Change: W244*

SMART Domains

Protein: ENSMUSP00000130617
Gene: ENSMUSG00000001508
AA Change: W244*

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

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

100% (86/86)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	T	6: 86,063,899 (GRCm39)	E66V	probably damaging	Het
Aldh1a3	T	C	7: 66,062,658 (GRCm39)	I156V	probably benign	Het
Ang4	T	A	14: 52,001,725 (GRCm39)	K74N	probably benign	Het
Arcn1	A	T	9: 44,670,172 (GRCm39)		probably benign	Het
Arhgef33	T	A	17: 80,655,026 (GRCm39)		probably benign	Het
Atn1	A	G	6: 124,720,188 (GRCm39)		probably benign	Het
Bmal2	A	G	6: 146,724,185 (GRCm39)	H359R	probably damaging	Het
Bmerb1	T	C	16: 13,911,795 (GRCm39)	L47P	probably damaging	Het
Brip1	T	C	11: 86,083,653 (GRCm39)	T123A	probably benign	Het
Camkv	A	G	9: 107,823,045 (GRCm39)	Y95C	probably damaging	Het
Cdk12	T	A	11: 98,095,211 (GRCm39)	S340T	probably benign	Het
Ckap2l	G	A	2: 129,138,224 (GRCm39)		probably benign	Het
Clmn	A	T	12: 104,738,085 (GRCm39)	L1042Q	probably damaging	Het
Clmn	G	T	12: 104,738,086 (GRCm39)	L1042M	probably damaging	Het
Cluh	T	C	11: 74,554,631 (GRCm39)	V737A	probably benign	Het
Cpne8	A	G	15: 90,424,462 (GRCm39)	V309A	probably benign	Het
Cpxm2	T	A	7: 131,756,342 (GRCm39)		probably benign	Het
Csmd3	A	T	15: 47,747,073 (GRCm39)		probably benign	Het
Ctr9	T	A	7: 110,650,159 (GRCm39)	S818T	probably benign	Het
Cyp26a1	C	T	19: 37,688,405 (GRCm39)	A309V	probably damaging	Het
Dbndd2	C	T	2: 164,332,122 (GRCm39)	T115I	possibly damaging	Het
Dhcr7	A	G	7: 143,394,964 (GRCm39)	N157S	probably benign	Het
Dlx2	C	A	2: 71,375,859 (GRCm39)	V155F	probably damaging	Het
Duox1	A	T	2: 122,176,982 (GRCm39)	I1470F	probably damaging	Het
Esrrb	A	T	12: 86,517,071 (GRCm39)	I68F	probably benign	Het
Fhod3	T	A	18: 25,248,862 (GRCm39)	L1347*	probably null	Het
Fip1l1	T	C	5: 74,755,721 (GRCm39)		probably benign	Het
Frem3	A	G	8: 81,413,637 (GRCm39)	Y1966C	probably damaging	Het
Gatd3a	T	C	10: 77,998,539 (GRCm39)	D229G	probably damaging	Het
Ggt5	C	T	10: 75,440,604 (GRCm39)	R242C	possibly damaging	Het
Gm14496	G	A	2: 181,637,480 (GRCm39)	V185I	probably benign	Het
Gnptab	T	C	10: 88,265,814 (GRCm39)	V409A	probably damaging	Het
Gramd1a	A	G	7: 30,837,589 (GRCm39)	F390S	possibly damaging	Het
Helz2	A	G	2: 180,872,570 (GRCm39)	S2477P	probably damaging	Het
Hsd17b3	T	C	13: 64,236,936 (GRCm39)	K3E	probably benign	Het
Ift172	T	C	5: 31,414,715 (GRCm39)	H1395R	probably benign	Het
Jam2	T	A	16: 84,609,855 (GRCm39)	C180S	probably damaging	Het
Kalrn	A	C	16: 33,870,289 (GRCm39)	S160A	possibly damaging	Het
Kcnk3	T	C	5: 30,779,979 (GRCm39)	I343T	probably damaging	Het
Kif13a	T	C	13: 46,967,712 (GRCm39)	E334G	probably damaging	Het
Klhl41	A	G	2: 69,508,491 (GRCm39)	K482E	possibly damaging	Het
Lig3	A	G	11: 82,689,113 (GRCm39)	E794G	probably damaging	Het
Myh13	T	C	11: 67,240,436 (GRCm39)	M780T	possibly damaging	Het
Ndst2	A	G	14: 20,779,761 (GRCm39)	Y160H	probably damaging	Het
Ndufb10	T	C	17: 24,941,648 (GRCm39)	M90V	probably damaging	Het
Obscn	T	C	11: 59,024,104 (GRCm39)	K522R	probably benign	Het
Olfml2b	T	C	1: 170,475,413 (GRCm39)	S113P	probably benign	Het
Or14a257	T	A	7: 86,138,698 (GRCm39)	E20D	probably benign	Het
Or4a78	A	G	2: 89,497,423 (GRCm39)	I269T	probably benign	Het
Or4d10b	T	A	19: 12,036,979 (GRCm39)	M46L	probably benign	Het
Or51v14	T	C	7: 103,261,444 (GRCm39)	T39A	probably benign	Het
Or6k2	T	A	1: 173,986,930 (GRCm39)	M197K	possibly damaging	Het
Parg	T	C	14: 31,936,511 (GRCm39)		probably benign	Het
Pde7a	C	T	3: 19,284,482 (GRCm39)	C367Y	probably damaging	Het
Pigr	T	A	1: 130,772,281 (GRCm39)	C166*	probably null	Het
Pip4k2c	A	T	10: 127,036,704 (GRCm39)		probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prkd2	A	T	7: 16,599,602 (GRCm39)		probably benign	Het
Ptprt	G	T	2: 161,654,059 (GRCm39)		probably null	Het
Rapgef5	C	T	12: 117,610,741 (GRCm39)		probably benign	Het
Retreg1	T	C	15: 25,971,756 (GRCm39)	L356P	probably benign	Het
Rigi	T	A	4: 40,239,596 (GRCm39)	E34V	possibly damaging	Het
Rnf43	A	G	11: 87,622,077 (GRCm39)	T393A	probably benign	Het
Samd3	T	C	10: 26,147,725 (GRCm39)	S467P	probably benign	Het
Scarf1	C	A	11: 75,405,229 (GRCm39)	C89*	probably null	Het
Sdk1	T	C	5: 141,227,779 (GRCm39)	L59S	probably benign	Het
Sh3d21	T	C	4: 126,045,065 (GRCm39)	K538R	probably benign	Het
Smyd4	T	A	11: 75,281,958 (GRCm39)	L477Q	possibly damaging	Het
Sra1	A	G	18: 36,801,829 (GRCm39)	M87T	probably benign	Het
Ssh2	T	C	11: 77,328,459 (GRCm39)	Y336H	possibly damaging	Het
Steap1	T	C	5: 5,790,357 (GRCm39)	Y197C	probably damaging	Het
Strn3	A	G	12: 51,673,879 (GRCm39)		probably benign	Het
Tgm3	A	G	2: 129,868,677 (GRCm39)	T205A	probably benign	Het
Tll2	G	A	19: 41,101,512 (GRCm39)	T374I	probably damaging	Het
Tmem63b	C	A	17: 45,971,870 (GRCm39)	D782Y	possibly damaging	Het
Trim10	G	A	17: 37,183,283 (GRCm39)	S193N	probably benign	Het
Ttf1	A	T	2: 28,963,962 (GRCm39)	K613*	probably null	Het
Tube1	T	A	10: 39,010,168 (GRCm39)		probably null	Het
Uimc1	T	A	13: 55,224,222 (GRCm39)		probably null	Het
Wwp2	G	T	8: 108,283,428 (GRCm39)		probably benign	Het
Zfp101	C	T	17: 33,601,418 (GRCm39)	V113I	probably benign	Het
Zfp292	T	C	4: 34,809,114 (GRCm39)	D1310G	probably benign	Het
Zfp575	A	T	7: 24,285,245 (GRCm39)	L132H	probably damaging	Het
Zmym2	T	C	14: 57,194,420 (GRCm39)	F1226S	probably damaging	Het
Zswim6	A	C	13: 107,862,989 (GRCm39)		noncoding transcript	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
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
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'- AGACGACAGACTGATGGTGAGACTC -3'
(R):5'- ATGGATGCCCCGTGAAAACCTG -3'

Sequencing Primer
(F):5'- CTGATGGTGAGACTCAAACTCTG -3'
(R):5'- AATGAGATGCTCGGCCTTCAC -3'

Posted On

2013-10-16