Incidental Mutation 'R1293:Sgcb'
| ID |
150701 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgcb
|
| Ensembl Gene |
ENSMUSG00000029156 |
| Gene Name |
sarcoglycan, beta (dystrophin-associated glycoprotein) |
| Synonyms |
beta-SG |
| MMRRC Submission |
039359-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R1293 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
73790092-73805080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 73792870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 311
(V311F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081170]
[ENSMUST00000087177]
|
| AlphaFold |
P82349 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081170
AA Change: V311F
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000079937
Gene: ENSMUSG00000029156
AA Change: V311F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sarcoglycan_1
|
56 |
305 |
4.3e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087177
|
| SMART Domains |
Protein: ENSMUSP00000084423
Gene: ENSMUSG00000067206
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
LRR
|
140 |
162 |
1.81e1 |
SMART |
|
LRR_TYP
|
163 |
186 |
9.44e-2 |
SMART |
|
LRR
|
187 |
210 |
1.26e2 |
SMART |
|
LRR
|
211 |
234 |
4.84e1 |
SMART |
|
low complexity region
|
298 |
309 |
N/A |
INTRINSIC |
|
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
842 |
859 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit muscular dystrophy and cardiomyopathy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
G |
A |
2: 155,393,141 (GRCm39) |
R289Q |
probably benign |
Het |
| Adgrl4 |
G |
A |
3: 151,213,081 (GRCm39) |
E374K |
probably benign |
Het |
| Ate1 |
G |
A |
7: 129,996,455 (GRCm39) |
R505C |
probably benign |
Het |
| Cntn4 |
T |
C |
6: 106,330,685 (GRCm39) |
I101T |
probably benign |
Het |
| Dmtf1 |
T |
A |
5: 9,190,383 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
C |
A |
11: 118,017,963 (GRCm39) |
|
probably null |
Het |
| Efhc1 |
A |
G |
1: 21,048,996 (GRCm39) |
T470A |
probably damaging |
Het |
| Fam118b |
A |
T |
9: 35,132,721 (GRCm39) |
Y313N |
probably damaging |
Het |
| Gm10142 |
T |
C |
10: 77,551,869 (GRCm39) |
S77P |
probably benign |
Het |
| Kat8 |
T |
C |
7: 127,521,422 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,353,646 (GRCm39) |
|
probably null |
Het |
| Lrrc10 |
A |
G |
10: 116,881,838 (GRCm39) |
T171A |
probably benign |
Het |
| Mcidas |
A |
G |
13: 113,133,926 (GRCm39) |
T137A |
probably benign |
Het |
| Med1 |
G |
A |
11: 98,047,862 (GRCm39) |
T978I |
possibly damaging |
Het |
| Muc6 |
C |
A |
7: 141,238,255 (GRCm39) |
C75F |
probably damaging |
Het |
| Olfm3 |
A |
G |
3: 114,895,579 (GRCm39) |
I154V |
possibly damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,341,058 (GRCm39) |
C28R |
probably damaging |
Het |
| Or2y12 |
G |
A |
11: 49,426,393 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or5ak22 |
T |
A |
2: 85,230,697 (GRCm39) |
|
probably null |
Het |
| Or7g30 |
A |
T |
9: 19,352,728 (GRCm39) |
E173V |
probably benign |
Het |
| Rsrc1 |
G |
A |
3: 67,263,612 (GRCm39) |
R324Q |
probably damaging |
Het |
| Samd9l |
G |
T |
6: 3,373,947 (GRCm39) |
P1105T |
possibly damaging |
Het |
| Siglec1 |
A |
G |
2: 130,915,451 (GRCm39) |
V1380A |
probably benign |
Het |
| Spred1 |
C |
T |
2: 117,007,889 (GRCm39) |
P265L |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,235,190 (GRCm39) |
H3259Q |
probably damaging |
Het |
| Unc13c |
C |
T |
9: 73,481,356 (GRCm39) |
D1694N |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,280,750 (GRCm39) |
R2355G |
probably benign |
Het |
| Vmn1r53 |
T |
A |
6: 90,201,196 (GRCm39) |
N43Y |
possibly damaging |
Het |
| Wtip |
T |
C |
7: 33,809,646 (GRCm39) |
S359G |
possibly damaging |
Het |
| Zfp984 |
T |
A |
4: 147,840,398 (GRCm39) |
K151M |
possibly damaging |
Het |
|
| Other mutations in Sgcb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Sgcb
|
APN |
5 |
73,793,021 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02504:Sgcb
|
APN |
5 |
73,801,718 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03330:Sgcb
|
APN |
5 |
73,797,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4445001:Sgcb
|
UTSW |
5 |
73,797,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0708:Sgcb
|
UTSW |
5 |
73,798,225 (GRCm39) |
splice site |
probably null |
|
|
R1016:Sgcb
|
UTSW |
5 |
73,797,183 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1119:Sgcb
|
UTSW |
5 |
73,801,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Sgcb
|
UTSW |
5 |
73,792,896 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1464:Sgcb
|
UTSW |
5 |
73,792,896 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2762:Sgcb
|
UTSW |
5 |
73,793,052 (GRCm39) |
splice site |
probably null |
|
|
R5499:Sgcb
|
UTSW |
5 |
73,801,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6120:Sgcb
|
UTSW |
5 |
73,798,153 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6809:Sgcb
|
UTSW |
5 |
73,798,036 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7484:Sgcb
|
UTSW |
5 |
73,797,188 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7647:Sgcb
|
UTSW |
5 |
73,796,720 (GRCm39) |
splice site |
probably null |
|
|
R8797:Sgcb
|
UTSW |
5 |
73,793,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8939:Sgcb
|
UTSW |
5 |
73,801,661 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9394:Sgcb
|
UTSW |
5 |
73,801,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Sgcb
|
UTSW |
5 |
73,801,628 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATAGACACAGTGGTGCTCCCCAG -3'
(R):5'- ATGGCTTTACTCTCTGACTGCCAAC -3'
Sequencing Primer
(F):5'- TGCTCCCCAGGTAAAATAATTACAAG -3'
(R):5'- TGTGTTCCCATAGGAAAACAGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation