Incidental Mutation 'R3862:Sgcz'
ID |
276398 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgcz
|
Ensembl Gene |
ENSMUSG00000039539 |
Gene Name |
sarcoglycan zeta |
Synonyms |
C230085N17Rik |
MMRRC Submission |
040903-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R3862 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
37989452-39128662 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37990565 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 263
(I263V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113912
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118896]
[ENSMUST00000135764]
|
AlphaFold |
Q8BX51 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000118896
AA Change: I263V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113912 Gene: ENSMUSG00000039539 AA Change: I263V
Domain | Start | End | E-Value | Type |
Pfam:Sarcoglycan_1
|
38 |
298 |
4.7e-92 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135764
|
SMART Domains |
Protein: ENSMUSP00000117250 Gene: ENSMUSG00000039539
Domain | Start | End | E-Value | Type |
Pfam:Sarcoglycan_1
|
38 |
201 |
4.4e-54 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
97% (36/37) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apc2 |
G |
A |
10: 80,143,393 (GRCm39) |
G498R |
possibly damaging |
Het |
Bltp1 |
T |
A |
3: 36,939,547 (GRCm39) |
F134I |
possibly damaging |
Het |
Bub1 |
A |
G |
2: 127,656,676 (GRCm39) |
|
probably benign |
Het |
Cttnbp2 |
C |
T |
6: 18,434,905 (GRCm39) |
V318M |
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 104,044,522 (GRCm39) |
I825M |
possibly damaging |
Het |
Enpp6 |
A |
G |
8: 47,519,027 (GRCm39) |
Q265R |
probably benign |
Het |
Eri1 |
A |
G |
8: 35,958,448 (GRCm39) |
V61A |
possibly damaging |
Het |
Evi2 |
T |
A |
11: 79,406,472 (GRCm39) |
I368F |
probably benign |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Fkbp9 |
A |
G |
6: 56,845,890 (GRCm39) |
T409A |
probably benign |
Het |
Gtpbp4 |
A |
G |
13: 9,040,834 (GRCm39) |
V97A |
probably damaging |
Het |
Hapln1 |
C |
T |
13: 89,753,418 (GRCm39) |
Q195* |
probably null |
Het |
Helt |
G |
T |
8: 46,745,315 (GRCm39) |
N189K |
probably benign |
Het |
Hint2 |
A |
G |
4: 43,654,771 (GRCm39) |
V91A |
probably damaging |
Het |
Ighv1-7 |
A |
G |
12: 114,502,266 (GRCm39) |
I67T |
probably damaging |
Het |
Kif26a |
A |
G |
12: 112,146,323 (GRCm39) |
E1803G |
probably benign |
Het |
Lrrd1 |
G |
A |
5: 3,901,248 (GRCm39) |
V518I |
probably benign |
Het |
Marchf11 |
C |
T |
15: 26,387,952 (GRCm39) |
A269V |
probably damaging |
Het |
Mep1b |
A |
G |
18: 21,217,226 (GRCm39) |
N115S |
possibly damaging |
Het |
Naif1 |
A |
G |
2: 32,342,637 (GRCm39) |
R63G |
probably damaging |
Het |
Nsmaf |
A |
G |
4: 6,435,064 (GRCm39) |
I126T |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or52h7 |
G |
A |
7: 104,214,145 (GRCm39) |
R239H |
probably benign |
Het |
Or8g53 |
T |
A |
9: 39,683,920 (GRCm39) |
M59L |
probably benign |
Het |
Pcdhb3 |
A |
G |
18: 37,436,329 (GRCm39) |
E765G |
probably damaging |
Het |
Ppp4r4 |
C |
T |
12: 103,562,680 (GRCm39) |
R550* |
probably null |
Het |
Scgb2b3 |
C |
T |
7: 31,061,430 (GRCm39) |
|
probably null |
Het |
Slc15a1 |
C |
T |
14: 121,722,269 (GRCm39) |
V211I |
probably benign |
Het |
Slc25a21 |
G |
T |
12: 56,764,920 (GRCm39) |
|
probably benign |
Het |
Snrnp200 |
C |
A |
2: 127,075,019 (GRCm39) |
|
probably benign |
Het |
Spata31e5 |
T |
C |
1: 28,816,722 (GRCm39) |
T437A |
probably damaging |
Het |
Sptbn1 |
G |
T |
11: 30,092,329 (GRCm39) |
Q479K |
possibly damaging |
Het |
Stag1 |
T |
A |
9: 100,826,838 (GRCm39) |
V935D |
probably benign |
Het |
Veph1 |
C |
T |
3: 66,162,313 (GRCm39) |
C115Y |
probably damaging |
Het |
Zc3h12a |
T |
C |
4: 125,020,732 (GRCm39) |
D37G |
probably benign |
Het |
Zfand4 |
A |
T |
6: 116,270,776 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Sgcz |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01966:Sgcz
|
APN |
8 |
38,107,169 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02593:Sgcz
|
APN |
8 |
37,990,432 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03237:Sgcz
|
APN |
8 |
38,030,332 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03238:Sgcz
|
APN |
8 |
38,030,294 (GRCm39) |
critical splice donor site |
probably null |
|
R0076:Sgcz
|
UTSW |
8 |
38,012,596 (GRCm39) |
splice site |
probably benign |
|
R0276:Sgcz
|
UTSW |
8 |
38,420,073 (GRCm39) |
missense |
probably benign |
0.18 |
R2095:Sgcz
|
UTSW |
8 |
38,007,546 (GRCm39) |
splice site |
probably benign |
|
R3623:Sgcz
|
UTSW |
8 |
38,420,201 (GRCm39) |
missense |
probably damaging |
0.96 |
R3624:Sgcz
|
UTSW |
8 |
38,420,201 (GRCm39) |
missense |
probably damaging |
0.96 |
R3863:Sgcz
|
UTSW |
8 |
37,990,565 (GRCm39) |
missense |
probably benign |
|
R3953:Sgcz
|
UTSW |
8 |
37,993,346 (GRCm39) |
splice site |
probably benign |
|
R3956:Sgcz
|
UTSW |
8 |
37,993,346 (GRCm39) |
splice site |
probably benign |
|
R5120:Sgcz
|
UTSW |
8 |
37,993,420 (GRCm39) |
missense |
probably benign |
0.30 |
R5121:Sgcz
|
UTSW |
8 |
38,006,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R5431:Sgcz
|
UTSW |
8 |
38,107,138 (GRCm39) |
missense |
probably damaging |
0.98 |
R5913:Sgcz
|
UTSW |
8 |
37,993,425 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6921:Sgcz
|
UTSW |
8 |
37,993,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R7151:Sgcz
|
UTSW |
8 |
38,006,833 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7412:Sgcz
|
UTSW |
8 |
37,990,565 (GRCm39) |
missense |
probably benign |
|
R7507:Sgcz
|
UTSW |
8 |
38,420,200 (GRCm39) |
missense |
probably benign |
0.05 |
R7554:Sgcz
|
UTSW |
8 |
38,030,426 (GRCm39) |
splice site |
probably null |
|
R8121:Sgcz
|
UTSW |
8 |
37,990,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R8355:Sgcz
|
UTSW |
8 |
38,190,239 (GRCm39) |
missense |
probably benign |
0.00 |
R8455:Sgcz
|
UTSW |
8 |
38,190,239 (GRCm39) |
missense |
probably benign |
0.00 |
R8486:Sgcz
|
UTSW |
8 |
38,190,207 (GRCm39) |
missense |
probably benign |
0.01 |
R8871:Sgcz
|
UTSW |
8 |
38,420,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R8931:Sgcz
|
UTSW |
8 |
38,107,140 (GRCm39) |
missense |
probably damaging |
0.98 |
R8997:Sgcz
|
UTSW |
8 |
39,127,894 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAACAAAAGGCTATTCTGGTGTG -3'
(R):5'- TTTAAGACAGCAGCAGAGCCC -3'
Sequencing Primer
(F):5'- TGAGGAGAAATCAGTCGCTTCAGTTC -3'
(R):5'- CAGTGCACAGGCTTGTAATC -3'
|
Posted On |
2015-04-06 |