Incidental Mutation 'R8378:Sgce'
| ID |
646802 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgce
|
| Ensembl Gene |
ENSMUSG00000004631 |
| Gene Name |
sarcoglycan, epsilon |
| Synonyms |
e-SG |
| MMRRC Submission |
067746-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
R8378 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
4674350-4747180 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 4689760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 394
(L394V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004750]
[ENSMUST00000090686]
[ENSMUST00000101677]
[ENSMUST00000115577]
[ENSMUST00000115579]
[ENSMUST00000126151]
[ENSMUST00000133306]
|
| AlphaFold |
O70258 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004750
AA Change: L349V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004750
Gene: ENSMUSG00000004631
AA Change: L349V
| Domain | Start | End | E-Value | Type |
|---|
|
CADG
|
49 |
157 |
1.86e-10 |
SMART |
|
low complexity region
|
412 |
423 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090686
AA Change: L349V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088185
Gene: ENSMUSG00000004631
AA Change: L349V
| Domain | Start | End | E-Value | Type |
|---|
|
CADG
|
49 |
157 |
1.86e-10 |
SMART |
|
low complexity region
|
412 |
423 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101677
AA Change: L349V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099200
Gene: ENSMUSG00000004631
AA Change: L349V
| Domain | Start | End | E-Value | Type |
|---|
|
CADG
|
49 |
157 |
1.86e-10 |
SMART |
|
low complexity region
|
421 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115577
AA Change: L394V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111240
Gene: ENSMUSG00000004631
AA Change: L394V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
|
CADG
|
85 |
193 |
1.86e-10 |
SMART |
|
low complexity region
|
457 |
468 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115579
AA Change: L358V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111242
Gene: ENSMUSG00000004631
AA Change: L358V
| Domain | Start | End | E-Value | Type |
|---|
|
CADG
|
49 |
157 |
1.86e-10 |
SMART |
|
low complexity region
|
421 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123907
|
| SMART Domains |
Protein: ENSMUSP00000120910
Gene: ENSMUSG00000004631
| Domain | Start | End | E-Value | Type |
|---|
|
CADG
|
32 |
140 |
1.86e-10 |
SMART |
|
low complexity region
|
395 |
406 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126151
AA Change: L317V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120718
Gene: ENSMUSG00000004631
AA Change: L317V
| Domain | Start | End | E-Value | Type |
|---|
|
CADG
|
26 |
134 |
1.86e-10 |
SMART |
|
low complexity region
|
389 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133306
AA Change: L358V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121964
Gene: ENSMUSG00000004631
AA Change: L358V
| Domain | Start | End | E-Value | Type |
|---|
|
CADG
|
26 |
134 |
1.86e-10 |
SMART |
|
low complexity region
|
398 |
409 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous or heterozygous for a knock-out allele display significantly increased myoclonus and deficits in motor coordination and balance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
A |
G |
15: 59,886,967 (GRCm39) |
I491T |
probably damaging |
Het |
| Aadacl4fm4 |
C |
G |
4: 144,397,169 (GRCm39) |
V188L |
probably benign |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
| Ap1s3 |
T |
C |
1: 79,601,445 (GRCm39) |
E82G |
probably damaging |
Het |
| Bmp3 |
A |
G |
5: 99,003,248 (GRCm39) |
N93D |
probably damaging |
Het |
| Car9 |
C |
T |
4: 43,509,021 (GRCm39) |
R224C |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,269,714 (GRCm39) |
C599R |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,782,490 (GRCm39) |
N1261D |
possibly damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,989,709 (GRCm39) |
D1726G |
probably damaging |
Het |
| Ceacam2 |
G |
A |
7: 25,217,597 (GRCm39) |
A306V |
probably damaging |
Het |
| Crebrf |
G |
T |
17: 26,981,263 (GRCm39) |
L546F |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,069,941 (GRCm39) |
F370S |
probably damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,922,699 (GRCm39) |
T487A |
probably benign |
Het |
| Diaph1 |
G |
A |
18: 38,025,006 (GRCm39) |
A485V |
unknown |
Het |
| Dmbt1 |
T |
C |
7: 130,708,195 (GRCm39) |
V1479A |
probably damaging |
Het |
| Efemp1 |
C |
T |
11: 28,871,765 (GRCm39) |
R427W |
probably damaging |
Het |
| Gm11444 |
C |
A |
11: 85,741,075 (GRCm39) |
W28L |
|
Het |
| Golga4 |
A |
G |
9: 118,387,390 (GRCm39) |
D1504G |
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,462,757 (GRCm39) |
S238G |
probably benign |
Het |
| Igkv1-135 |
T |
A |
6: 67,587,378 (GRCm39) |
V83D |
possibly damaging |
Het |
| Ippk |
T |
A |
13: 49,589,055 (GRCm39) |
C183* |
probably null |
Het |
| Itgb3 |
A |
G |
11: 104,533,142 (GRCm39) |
T419A |
possibly damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,797,283 (GRCm39) |
H129R |
probably benign |
Het |
| Kif18b |
A |
T |
11: 102,807,299 (GRCm39) |
V12E |
probably damaging |
Het |
| Kif2b |
C |
A |
11: 91,467,201 (GRCm39) |
G361C |
possibly damaging |
Het |
| Klhl30 |
A |
T |
1: 91,285,494 (GRCm39) |
K339* |
probably null |
Het |
| Lrfn1 |
A |
G |
7: 28,159,157 (GRCm39) |
I359V |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Ndufaf2 |
C |
A |
13: 108,189,387 (GRCm39) |
L120F |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,052,545 (GRCm39) |
V961A |
possibly damaging |
Het |
| Or12e10 |
T |
A |
2: 87,640,394 (GRCm39) |
Y77N |
probably damaging |
Het |
| Or2h15 |
A |
G |
17: 38,441,678 (GRCm39) |
V135A |
probably benign |
Het |
| Pcnx2 |
G |
A |
8: 126,487,649 (GRCm39) |
P1785S |
probably damaging |
Het |
| Pcyt2 |
A |
G |
11: 120,504,234 (GRCm39) |
Y170H |
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Rfx8 |
T |
A |
1: 39,709,581 (GRCm39) |
D482V |
probably damaging |
Het |
| Rilpl1 |
T |
C |
5: 124,668,964 (GRCm39) |
Y28C |
probably damaging |
Het |
| Tbk1 |
A |
G |
10: 121,414,597 (GRCm39) |
V39A |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,976,405 (GRCm39) |
I1148F |
probably damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,372,029 (GRCm39) |
R64* |
probably null |
Het |
| Vmn2r68 |
A |
T |
7: 84,871,108 (GRCm39) |
V725E |
probably benign |
Het |
| Yy1 |
A |
T |
12: 108,759,562 (GRCm39) |
H75L |
unknown |
Het |
| Zwilch |
A |
T |
9: 64,060,240 (GRCm39) |
V366D |
possibly damaging |
Het |
|
| Other mutations in Sgce |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00156:Sgce
|
APN |
6 |
4,689,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01399:Sgce
|
APN |
6 |
4,746,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01796:Sgce
|
APN |
6 |
4,711,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02403:Sgce
|
APN |
6 |
4,694,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02421:Sgce
|
APN |
6 |
4,694,187 (GRCm39) |
splice site |
probably benign |
|
|
IGL02547:Sgce
|
APN |
6 |
4,711,301 (GRCm39) |
splice site |
probably benign |
|
|
IGL02585:Sgce
|
APN |
6 |
4,711,388 (GRCm39) |
splice site |
probably benign |
|
|
IGL03355:Sgce
|
APN |
6 |
4,689,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03374:Sgce
|
APN |
6 |
4,689,718 (GRCm39) |
nonsense |
probably null |
|
|
PIT4445001:Sgce
|
UTSW |
6 |
4,689,654 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0345:Sgce
|
UTSW |
6 |
4,718,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0611:Sgce
|
UTSW |
6 |
4,689,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0719:Sgce
|
UTSW |
6 |
4,689,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1162:Sgce
|
UTSW |
6 |
4,691,419 (GRCm39) |
splice site |
probably benign |
|
|
R1630:Sgce
|
UTSW |
6 |
4,719,476 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1694:Sgce
|
UTSW |
6 |
4,689,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Sgce
|
UTSW |
6 |
4,689,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1897:Sgce
|
UTSW |
6 |
4,691,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2231:Sgce
|
UTSW |
6 |
4,730,066 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3429:Sgce
|
UTSW |
6 |
4,730,008 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4011:Sgce
|
UTSW |
6 |
4,691,563 (GRCm39) |
nonsense |
probably null |
|
|
R4426:Sgce
|
UTSW |
6 |
4,691,459 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4427:Sgce
|
UTSW |
6 |
4,691,459 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4651:Sgce
|
UTSW |
6 |
4,689,560 (GRCm39) |
intron |
probably benign |
|
|
R4652:Sgce
|
UTSW |
6 |
4,689,560 (GRCm39) |
intron |
probably benign |
|
|
R4921:Sgce
|
UTSW |
6 |
4,694,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Sgce
|
UTSW |
6 |
4,689,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6271:Sgce
|
UTSW |
6 |
4,730,015 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6898:Sgce
|
UTSW |
6 |
4,689,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7317:Sgce
|
UTSW |
6 |
4,691,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7347:Sgce
|
UTSW |
6 |
4,694,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7512:Sgce
|
UTSW |
6 |
4,707,192 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7671:Sgce
|
UTSW |
6 |
4,691,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8009:Sgce
|
UTSW |
6 |
4,691,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8378:Sgce
|
UTSW |
6 |
4,691,525 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8942:Sgce
|
UTSW |
6 |
4,730,027 (GRCm39) |
missense |
probably benign |
|
|
R9187:Sgce
|
UTSW |
6 |
4,711,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9276:Sgce
|
UTSW |
6 |
4,674,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Sgce
|
UTSW |
6 |
4,707,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9517:Sgce
|
UTSW |
6 |
4,694,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Sgce
|
UTSW |
6 |
4,689,638 (GRCm39) |
missense |
probably benign |
0.41 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGGTACTCACTGCTGTGC -3'
(R):5'- TTCCGTGAGTATTTATAAATGCCCC -3'
Sequencing Primer
(F):5'- TGCTGTGCCTGCATCAACG -3'
(R):5'- CGGCTAGTGCGTCATTTT -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation