Mutagenetix > Incidental Mutation

Incidental Mutation 'R9291:Sgcd'

704291

Institutional Source

Beutler Lab

Gene Symbol

Sgcd

Ensembl Gene

ENSMUSG00000020354

Gene Name

sarcoglycan, delta (dystrophin-associated glycoprotein)

Synonyms

delta-SG

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R9291 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46861904-47880309 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46870166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 265 (C265Y)

Ref Sequence

ENSEMBL: ENSMUSP00000076459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077221] [ENSMUST00000109220]

AlphaFold

P82347

Predicted Effect

probably damaging
Transcript: ENSMUST00000077221
AA Change: C265Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076459
Gene: ENSMUSG00000020354
AA Change: C265Y

Domain	Start	End	E-Value	Type
Pfam:Sarcoglycan_1	23	278	3.2e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109220

SMART Domains

Protein: ENSMUSP00000104843
Gene: ENSMUSG00000020354

Domain	Start	End	E-Value	Type
Pfam:Sarcoglycan_1	21	192	2.4e-68	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display cardiomyopathy and muscular dystrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,464 (GRCm39)	N551S	probably benign	Het
Abcg5	C	A	17: 84,976,380 (GRCm39)	V486L	probably benign	Het
Acoxl	T	A	2: 127,814,493 (GRCm39)	I303N	probably damaging	Het
Atp6v1h	G	T	1: 5,220,284 (GRCm39)	W464L	probably null	Het
Cdcp2	A	G	4: 106,964,053 (GRCm39)	D301G	probably damaging	Het
Cenpv	T	C	11: 62,429,688 (GRCm39)	D115G	probably benign	Het
Cnfn	T	C	7: 25,067,476 (GRCm39)	D67G	possibly damaging	Het
Col27a1	A	C	4: 63,142,539 (GRCm39)	I76L	probably damaging	Het
Crb2	G	A	2: 37,682,213 (GRCm39)	V865I	probably damaging	Het
Ctf1	T	A	7: 127,316,204 (GRCm39)	L58Q	probably damaging	Het
Dennd6b	C	T	15: 89,071,590 (GRCm39)	V276M	possibly damaging	Het
Dis3l2	A	G	1: 86,901,215 (GRCm39)	T483A	possibly damaging	Het
Dlg5	T	C	14: 24,241,229 (GRCm39)	T223A	probably damaging	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dnah8	T	C	17: 30,944,099 (GRCm39)	I1772T	probably damaging	Het
Dscaml1	T	C	9: 45,359,251 (GRCm39)	I170T	probably damaging	Het
Ehd4	G	T	2: 119,921,755 (GRCm39)	D500E	probably damaging	Het
Elac2	T	C	11: 64,883,142 (GRCm39)	I388T	probably damaging	Het
Entpd6	G	A	2: 150,608,959 (GRCm39)	V348M	probably benign	Het
Epg5	T	A	18: 78,056,065 (GRCm39)	C1746*	probably null	Het
Exosc2	G	T	2: 31,560,871 (GRCm39)	M40I	probably benign	Het
Fam193a	T	C	5: 34,593,835 (GRCm39)	Y27H	probably damaging	Het
Gm8005	A	G	14: 42,258,885 (GRCm39)	F148L		Het
Hectd4	T	C	5: 121,487,028 (GRCm39)	V3341A	probably benign	Het
Hecw1	A	G	13: 14,491,522 (GRCm39)	V77A	probably benign	Het
Irf2bp1	T	A	7: 18,738,458 (GRCm39)	C33S	probably damaging	Het
Kank4	A	T	4: 98,666,688 (GRCm39)	H586Q	probably benign	Het
Kcnu1	A	G	8: 26,390,041 (GRCm39)	N619S	probably benign	Het
Kndc1	A	G	7: 139,475,140 (GRCm39)	E13G	possibly damaging	Het
Lrp2	A	T	2: 69,310,379 (GRCm39)	D2731E	probably damaging	Het
Lyst	A	G	13: 13,883,938 (GRCm39)	N2942S	probably benign	Het
Maml3	G	A	3: 51,764,328 (GRCm39)	T212M	probably benign	Het
Mill2	T	C	7: 18,575,416 (GRCm39)	V41A	probably benign	Het
Moxd2	C	A	6: 40,857,362 (GRCm39)	C466F	probably damaging	Het
Nefh	A	G	11: 4,890,871 (GRCm39)	S583P	probably benign	Het
Nlrp9b	T	A	7: 19,758,511 (GRCm39)	S583T	possibly damaging	Het
Nup214	T	G	2: 31,867,806 (GRCm39)	M91R	probably benign	Het
Or4c121	A	C	2: 89,024,138 (GRCm39)	M80R	possibly damaging	Het
Or6c206	T	C	10: 129,097,202 (GRCm39)	I124T	probably damaging	Het
Or8k53	A	T	2: 86,177,768 (GRCm39)	I114N	probably benign	Het
Otud4	A	G	8: 80,372,952 (GRCm39)	Y90C	probably damaging	Het
Papln	C	A	12: 83,825,284 (GRCm39)	T575N	probably benign	Het
Pkhd1l1	T	A	15: 44,433,372 (GRCm39)	N3417K	probably damaging	Het
Pop7	A	G	5: 137,499,911 (GRCm39)	*141Q	probably null	Het
Pramel26	A	T	4: 143,539,251 (GRCm39)	Y81N	probably benign	Het
Rchy1	A	G	5: 92,099,765 (GRCm39)	L191S	possibly damaging	Het
Rims1	T	C	1: 22,467,746 (GRCm39)	D296G		Het
Sftpb	T	A	6: 72,286,880 (GRCm39)	C261*	probably null	Het
Slc44a5	G	A	3: 153,962,218 (GRCm39)	V384M	possibly damaging	Het
Slx4ip	T	A	2: 136,888,716 (GRCm39)	N132K	probably benign	Het
Sspo	C	T	6: 48,473,330 (GRCm39)	T4861M	probably damaging	Het
Swt1	T	A	1: 151,286,694 (GRCm39)	E266V	probably damaging	Het
Tbc1d9	A	G	8: 83,987,750 (GRCm39)	D903G	probably damaging	Het
Tbx18	A	T	9: 87,611,535 (GRCm39)	M165K	probably damaging	Het
Tmem25	T	C	9: 44,706,799 (GRCm39)	N282S	probably damaging	Het
Tom1l2	T	C	11: 60,153,556 (GRCm39)	I140M	probably benign	Het
Trak2	A	G	1: 58,943,058 (GRCm39)	S783P	probably damaging	Het
Trpv4	G	A	5: 114,768,068 (GRCm39)	T534M	probably benign	Het
Ttc6	G	T	12: 57,622,730 (GRCm39)	R43M	probably damaging	Het
Vmn1r194	A	G	13: 22,428,875 (GRCm39)	Y164C	probably benign	Het
Vmn1r228	T	C	17: 20,997,023 (GRCm39)	Y165C	probably benign	Het
Vps13b	C	A	15: 35,847,059 (GRCm39)	T2614K	probably damaging	Het
Zdhhc14	T	C	17: 5,698,237 (GRCm39)	F102S	probably benign	Het
Zyg11b	A	G	4: 108,108,014 (GRCm39)	M464T	probably benign	Het

Other mutations in Sgcd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01763:Sgcd	APN	11	47,085,856 (GRCm39)	critical splice donor site	probably null
IGL02013:Sgcd	APN	11	46,871,770 (GRCm39)	intron	probably benign
IGL02447:Sgcd	APN	11	46,870,082 (GRCm39)	intron	probably benign
R1682:Sgcd	UTSW	11	47,085,869 (GRCm39)	missense	probably benign
R1879:Sgcd	UTSW	11	47,246,068 (GRCm39)	missense	probably benign	0.25
R1894:Sgcd	UTSW	11	47,085,937 (GRCm39)	missense	probably damaging	1.00
R2238:Sgcd	UTSW	11	47,023,509 (GRCm39)	missense	possibly damaging	0.50
R3788:Sgcd	UTSW	11	47,246,032 (GRCm39)	nonsense	probably null
R4948:Sgcd	UTSW	11	46,870,262 (GRCm39)	missense	possibly damaging	0.92
R5179:Sgcd	UTSW	11	46,871,711 (GRCm39)	missense	probably benign	0.33
R5894:Sgcd	UTSW	11	47,246,028 (GRCm39)	missense	probably damaging	1.00
R7081:Sgcd	UTSW	11	47,016,428 (GRCm39)	nonsense	probably null
R7579:Sgcd	UTSW	11	47,016,481 (GRCm39)	missense	possibly damaging	0.77
R9150:Sgcd	UTSW	11	46,870,170 (GRCm39)	missense	probably damaging	0.98
X0066:Sgcd	UTSW	11	47,246,200 (GRCm39)	start codon destroyed	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- CACAAAAGGGCTTTGATAGGC -3'
(R):5'- ACACAGTAGGCACCTTCGAG -3'

Sequencing Primer
(F):5'- ACAAAAGGGCTTTGATAGGCTTTCTG -3'
(R):5'- GGCACCTTCGAGGCTTAAATTTAG -3'

Posted On

2022-03-25