Incidental Mutation 'R7496:Sgca'
| ID |
581084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgca
|
| Ensembl Gene |
ENSMUSG00000001508 |
| Gene Name |
sarcoglycan, alpha (dystrophin-associated glycoprotein) |
| Synonyms |
50DAG, adhalin, Asg |
| MMRRC Submission |
045569-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
R7496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94853617-94867153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94862070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 194
(E194G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038928]
[ENSMUST00000100551]
[ENSMUST00000103162]
[ENSMUST00000139855]
[ENSMUST00000152042]
[ENSMUST00000166320]
|
| AlphaFold |
P82350 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038928
|
| SMART Domains |
Protein: ENSMUSP00000039866
Gene: ENSMUSG00000038994
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Linker_histone
|
35 |
106 |
5.9e-11 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100551
AA Change: E194G
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098118
Gene: ENSMUSG00000001508
AA Change: E194G
| Domain | Start | End | E-Value | Type |
|---|
|
CADG
|
27 |
131 |
2.14e-10 |
SMART |
|
low complexity region
|
287 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103162
AA Change: E194G
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099451
Gene: ENSMUSG00000001508
AA Change: E194G
| Domain | Start | End | E-Value | Type |
|---|
|
CADG
|
27 |
131 |
2.14e-10 |
SMART |
|
low complexity region
|
287 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139855
|
| SMART Domains |
Protein: ENSMUSP00000117637
Gene: ENSMUSG00000001508
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sarcoglycan_2
|
1 |
140 |
2.1e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152042
|
| SMART Domains |
Protein: ENSMUSP00000118455
Gene: ENSMUSG00000001508
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sarcoglycan_2
|
6 |
100 |
5.9e-34 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166320
AA Change: E194G
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130617
Gene: ENSMUSG00000001508
AA Change: E194G
| Domain | Start | End | E-Value | Type |
|---|
|
CADG
|
27 |
131 |
2.14e-10 |
SMART |
|
low complexity region
|
287 |
309 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9489 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the sarcoglycan alpha/epsilon family of transmembrane proteins. The encoded protein is part of the dystrophin-glycoprotein complex which links the extracellular matrix to the cytoskeleton in muscle fibers. Disruption of this gene results in progressive muscular dystrophy and is associated with the development of embryonal rhabdomysarcoma. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous mutation of this gene results in muscle abnormalities, with decreased skeletal muscle force and stiffness and muscular dystrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
T |
C |
16: 56,553,220 (GRCm39) |
I626V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Ago1 |
C |
T |
4: 126,355,545 (GRCm39) |
R88H |
probably benign |
Het |
| Ankrd6 |
C |
T |
4: 32,810,299 (GRCm39) |
D461N |
probably damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,404,417 (GRCm39) |
N202D |
probably benign |
Het |
| Bnip2 |
A |
G |
9: 69,910,686 (GRCm39) |
I245V |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,110,264 (GRCm39) |
D340G |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,411,066 (GRCm39) |
E1653G |
probably damaging |
Het |
| Dhdds |
C |
A |
4: 133,698,565 (GRCm39) |
Q256H |
possibly damaging |
Het |
| Dsc2 |
A |
T |
18: 20,168,451 (GRCm39) |
C669* |
probably null |
Het |
| Dync2h1 |
T |
C |
9: 7,135,015 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,044,460 (GRCm39) |
S276P |
probably benign |
Het |
| Galc |
A |
T |
12: 98,225,497 (GRCm39) |
L31* |
probably null |
Het |
| Gm527 |
C |
T |
12: 64,969,184 (GRCm39) |
R204C |
possibly damaging |
Het |
| Hivep3 |
G |
A |
4: 119,989,599 (GRCm39) |
D2017N |
probably benign |
Het |
| Inf2 |
C |
T |
12: 112,566,752 (GRCm39) |
R106C |
probably damaging |
Het |
| Itgb1 |
A |
G |
8: 129,446,786 (GRCm39) |
K434E |
probably benign |
Het |
| Lamb1 |
A |
C |
12: 31,350,020 (GRCm39) |
N700T |
probably benign |
Het |
| Macc1 |
T |
G |
12: 119,410,734 (GRCm39) |
F501V |
possibly damaging |
Het |
| Man2a2 |
G |
A |
7: 80,002,745 (GRCm39) |
H1079Y |
probably damaging |
Het |
| Nedd4l |
G |
A |
18: 65,213,089 (GRCm39) |
V82I |
possibly damaging |
Het |
| Nr2f1 |
T |
C |
13: 78,343,361 (GRCm39) |
E301G |
probably damaging |
Het |
| Or10ag59 |
A |
G |
2: 87,405,715 (GRCm39) |
R96G |
probably damaging |
Het |
| Or2ag13 |
A |
G |
7: 106,313,435 (GRCm39) |
L151P |
probably benign |
Het |
| Or4a73 |
T |
C |
2: 89,421,040 (GRCm39) |
I140V |
probably benign |
Het |
| Pdgfrb |
G |
A |
18: 61,212,004 (GRCm39) |
V844I |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,787,333 (GRCm39) |
E570G |
possibly damaging |
Het |
| R3hdm4 |
A |
T |
10: 79,752,708 (GRCm39) |
L4Q |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,415 (GRCm39) |
K639R |
probably null |
Het |
| Robo3 |
A |
T |
9: 37,339,121 (GRCm39) |
C257S |
probably damaging |
Het |
| Rprd2 |
A |
T |
3: 95,673,087 (GRCm39) |
L772Q |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,553,018 (GRCm39) |
D59G |
possibly damaging |
Het |
| Sall3 |
T |
C |
18: 81,016,579 (GRCm39) |
T450A |
probably benign |
Het |
| Sdhd |
T |
C |
9: 50,508,385 (GRCm39) |
*160W |
probably null |
Het |
| Shtn1 |
G |
A |
19: 59,016,616 (GRCm39) |
R228C |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,054,132 (GRCm39) |
S22T |
probably benign |
Het |
| Slc26a8 |
C |
A |
17: 28,863,824 (GRCm39) |
G645V |
probably benign |
Het |
| Smtn |
T |
C |
11: 3,479,988 (GRCm39) |
E411G |
probably damaging |
Het |
| Sox17 |
A |
G |
1: 4,562,550 (GRCm39) |
Y217H |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,766,452 (GRCm39) |
Q179R |
probably benign |
Het |
| Tpp2 |
A |
G |
1: 44,022,677 (GRCm39) |
I959M |
probably benign |
Het |
| Trim65 |
T |
A |
11: 116,017,142 (GRCm39) |
N440I |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,301,917 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
C |
1: 188,083,284 (GRCm39) |
S276P |
possibly damaging |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,430 (GRCm39) |
S295P |
probably benign |
Het |
| Wdhd1 |
T |
C |
14: 47,511,481 (GRCm39) |
Q77R |
probably benign |
Het |
| Xylb |
T |
A |
9: 119,220,882 (GRCm39) |
*552R |
probably null |
Het |
| Zfp932 |
C |
T |
5: 110,156,694 (GRCm39) |
P131S |
probably damaging |
Het |
|
| Other mutations in Sgca |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01123:Sgca
|
APN |
11 |
94,863,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01479:Sgca
|
APN |
11 |
94,854,204 (GRCm39) |
nonsense |
probably null |
|
|
IGL02153:Sgca
|
APN |
11 |
94,854,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02713:Sgca
|
APN |
11 |
94,862,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02928:Sgca
|
APN |
11 |
94,863,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03185:Sgca
|
APN |
11 |
94,861,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0602:Sgca
|
UTSW |
11 |
94,854,061 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0834:Sgca
|
UTSW |
11 |
94,861,512 (GRCm39) |
nonsense |
probably null |
|
|
R1547:Sgca
|
UTSW |
11 |
94,860,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1703:Sgca
|
UTSW |
11 |
94,860,217 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4110:Sgca
|
UTSW |
11 |
94,863,396 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4112:Sgca
|
UTSW |
11 |
94,863,396 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4796:Sgca
|
UTSW |
11 |
94,861,553 (GRCm39) |
splice site |
probably null |
|
|
R5301:Sgca
|
UTSW |
11 |
94,854,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6301:Sgca
|
UTSW |
11 |
94,863,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6347:Sgca
|
UTSW |
11 |
94,862,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6510:Sgca
|
UTSW |
11 |
94,854,058 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7110:Sgca
|
UTSW |
11 |
94,854,227 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7121:Sgca
|
UTSW |
11 |
94,860,373 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7197:Sgca
|
UTSW |
11 |
94,864,014 (GRCm39) |
splice site |
probably null |
|
|
R8383:Sgca
|
UTSW |
11 |
94,863,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Sgca
|
UTSW |
11 |
94,860,340 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Z1177:Sgca
|
UTSW |
11 |
94,860,339 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTAACAGGTTTTCACGGGGC -3'
(R):5'- GCCATACCAAGCTGAGTTCC -3'
Sequencing Primer
(F):5'- TTTCACGGGGCATCCATAAG -3'
(R):5'- CATACCAAGCTGAGTTCCTGGTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation