Incidental Mutation 'R8455:Sgcz'
| ID |
654978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgcz
|
| Ensembl Gene |
ENSMUSG00000039539 |
| Gene Name |
sarcoglycan zeta |
| Synonyms |
C230085N17Rik |
| MMRRC Submission |
067832-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R8455 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
37989452-39128662 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38190239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 96
(I96V)
|
| 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: I96V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113912
Gene: ENSMUSG00000039539
AA Change: I96V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sarcoglycan_1
|
38 |
298 |
4.7e-92 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135764
AA Change: I96V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000117250
Gene: ENSMUSG00000039539
AA Change: I96V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sarcoglycan_1
|
38 |
201 |
4.4e-54 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
A |
G |
9: 104,204,174 (GRCm39) |
V40A |
possibly damaging |
Het |
| Adgra1 |
T |
A |
7: 139,455,567 (GRCm39) |
C398* |
probably null |
Het |
| Amy2a1 |
T |
A |
3: 113,324,045 (GRCm39) |
D165V |
probably benign |
Het |
| Atf6b |
A |
G |
17: 34,867,197 (GRCm39) |
D63G |
probably benign |
Het |
| BC024139 |
T |
C |
15: 76,004,007 (GRCm39) |
D753G |
probably benign |
Het |
| Dnah3 |
T |
G |
7: 119,551,431 (GRCm39) |
T2963P |
probably damaging |
Het |
| Fanci |
G |
T |
7: 79,085,029 (GRCm39) |
L818F |
probably damaging |
Het |
| Gm4559 |
C |
A |
7: 141,827,694 (GRCm39) |
C136F |
unknown |
Het |
| Gm45844 |
G |
A |
7: 7,281,221 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
T |
A |
5: 25,559,499 (GRCm39) |
|
probably null |
Het |
| Lpo |
G |
A |
11: 87,705,114 (GRCm39) |
L407F |
probably damaging |
Het |
| Mus81 |
T |
C |
19: 5,534,220 (GRCm39) |
Y366C |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,364,528 (GRCm39) |
D1292G |
probably damaging |
Het |
| Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,132,800 (GRCm39) |
I309N |
probably damaging |
Het |
| Nufip2 |
C |
T |
11: 77,583,259 (GRCm39) |
T391I |
probably damaging |
Het |
| Or5g25 |
T |
A |
2: 85,478,485 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or7e177 |
A |
G |
9: 20,211,715 (GRCm39) |
Y74C |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,224,069 (GRCm39) |
V935E |
probably damaging |
Het |
| Rusc2 |
A |
G |
4: 43,422,846 (GRCm39) |
I994M |
probably benign |
Het |
| Tmem108 |
A |
G |
9: 103,377,069 (GRCm39) |
S127P |
possibly damaging |
Het |
| Tmem178b |
G |
A |
6: 40,231,869 (GRCm39) |
V168I |
unknown |
Het |
| Tut1 |
T |
C |
19: 8,936,626 (GRCm39) |
V150A |
probably benign |
Het |
| Txnl4a |
T |
A |
18: 80,250,539 (GRCm39) |
L45Q |
probably damaging |
Het |
| V1ra8 |
C |
T |
6: 90,180,447 (GRCm39) |
R217W |
probably damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,352 (GRCm39) |
T255A |
probably benign |
Het |
| Zfp605 |
A |
G |
5: 110,259,848 (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 |
|
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 |
|
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'- GATCAAGTGCTTTCTGATTTGCC -3'
(R):5'- GATGCAAAATGCTGTGATCTTTCC -3'
Sequencing Primer
(F):5'- GCTTTCTGATTTGCCAATTTAAAGC -3'
(R):5'- ATGCTGTGATCTTTCCAATATCTTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation