Incidental Mutation 'IGL03237:Sgcz'
ID |
414081 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sgcz
|
Ensembl Gene |
ENSMUSG00000039539 |
Gene Name |
sarcoglycan zeta |
Synonyms |
C230085N17Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
IGL03237
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
37989452-39128662 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 38030332 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 170
(D170E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117250
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118896]
[ENSMUST00000135764]
|
AlphaFold |
Q8BX51 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000118896
AA Change: D170E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113912 Gene: ENSMUSG00000039539 AA Change: D170E
Domain | Start | End | E-Value | Type |
Pfam:Sarcoglycan_1
|
38 |
298 |
4.7e-92 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135764
AA Change: D170E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000117250 Gene: ENSMUSG00000039539 AA Change: D170E
Domain | Start | End | E-Value | Type |
Pfam:Sarcoglycan_1
|
38 |
201 |
4.4e-54 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot12 |
A |
G |
13: 91,929,388 (GRCm39) |
Y405C |
probably benign |
Het |
Adam19 |
A |
G |
11: 46,028,383 (GRCm39) |
K672R |
probably benign |
Het |
Adamts7 |
C |
A |
9: 90,070,717 (GRCm39) |
P613T |
probably damaging |
Het |
Adgrl1 |
G |
T |
8: 84,656,312 (GRCm39) |
|
probably null |
Het |
Adrb1 |
A |
T |
19: 56,711,800 (GRCm39) |
N333Y |
probably damaging |
Het |
Aqp7 |
C |
T |
4: 41,034,884 (GRCm39) |
V190M |
possibly damaging |
Het |
Atg101 |
T |
C |
15: 101,185,054 (GRCm39) |
F59L |
probably damaging |
Het |
Capn12 |
T |
C |
7: 28,590,366 (GRCm39) |
S638P |
probably damaging |
Het |
Ccm2l |
T |
C |
2: 152,907,922 (GRCm39) |
|
probably benign |
Het |
Cdc14a |
A |
T |
3: 116,198,275 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
A |
T |
1: 110,066,037 (GRCm39) |
K770N |
possibly damaging |
Het |
Clxn |
A |
G |
16: 14,738,652 (GRCm39) |
D161G |
probably damaging |
Het |
Col23a1 |
A |
C |
11: 51,458,746 (GRCm39) |
E294D |
possibly damaging |
Het |
Cped1 |
A |
T |
6: 22,233,595 (GRCm39) |
Y679F |
probably damaging |
Het |
Ctu2 |
A |
G |
8: 123,205,792 (GRCm39) |
E180G |
probably benign |
Het |
Cyp11b2 |
C |
T |
15: 74,722,914 (GRCm39) |
V495I |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,810,668 (GRCm39) |
M1563K |
probably benign |
Het |
Gabrg3 |
A |
T |
7: 56,632,460 (GRCm39) |
|
probably null |
Het |
Hsd17b11 |
A |
G |
5: 104,151,036 (GRCm39) |
*233Q |
probably null |
Het |
Klhl41 |
T |
C |
2: 69,500,902 (GRCm39) |
V121A |
possibly damaging |
Het |
Kptn |
A |
T |
7: 15,854,050 (GRCm39) |
D56V |
probably damaging |
Het |
L3mbtl4 |
T |
A |
17: 69,084,856 (GRCm39) |
I589N |
probably damaging |
Het |
Lpl |
A |
T |
8: 69,347,378 (GRCm39) |
N177Y |
possibly damaging |
Het |
Manba |
G |
A |
3: 135,250,512 (GRCm39) |
V380M |
probably damaging |
Het |
Mecom |
A |
T |
3: 30,010,648 (GRCm39) |
|
probably benign |
Het |
Mertk |
A |
G |
2: 128,632,192 (GRCm39) |
E707G |
probably damaging |
Het |
Myo5a |
A |
T |
9: 75,037,276 (GRCm39) |
I160F |
probably damaging |
Het |
Myo7a |
A |
T |
7: 97,751,800 (GRCm39) |
I81N |
probably damaging |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Nipal1 |
C |
T |
5: 72,824,150 (GRCm39) |
R76C |
probably damaging |
Het |
Noc3l |
C |
T |
19: 38,803,125 (GRCm39) |
|
probably null |
Het |
Nt5e |
A |
G |
9: 88,237,787 (GRCm39) |
D239G |
probably damaging |
Het |
Olr1 |
A |
C |
6: 129,479,117 (GRCm39) |
W34G |
probably damaging |
Het |
Plekhf1 |
A |
T |
7: 37,920,799 (GRCm39) |
N256K |
probably benign |
Het |
Psen2 |
T |
C |
1: 180,068,414 (GRCm39) |
T80A |
possibly damaging |
Het |
Psg27 |
A |
G |
7: 18,294,417 (GRCm39) |
I330T |
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,328,783 (GRCm39) |
V2894A |
probably damaging |
Het |
Snrnp200 |
C |
T |
2: 127,075,233 (GRCm39) |
A1573V |
probably damaging |
Het |
Steap3 |
C |
T |
1: 120,171,520 (GRCm39) |
G195D |
probably damaging |
Het |
Tmem165 |
T |
A |
5: 76,347,356 (GRCm39) |
Y5* |
probably null |
Het |
Tnpo1 |
C |
T |
13: 99,000,348 (GRCm39) |
E340K |
probably damaging |
Het |
Vmn2r67 |
A |
T |
7: 84,799,118 (GRCm39) |
C530S |
probably damaging |
Het |
Wdfy3 |
T |
A |
5: 101,992,465 (GRCm39) |
D3389V |
probably damaging |
Het |
Zfp128 |
A |
C |
7: 12,624,953 (GRCm39) |
E440D |
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 |
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 |
R3862:Sgcz
|
UTSW |
8 |
37,990,565 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2016-08-02 |