Incidental Mutation 'R1016:Sgcb'
ID |
96289 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgcb
|
Ensembl Gene |
ENSMUSG00000029156 |
Gene Name |
sarcoglycan, beta (dystrophin-associated glycoprotein) |
Synonyms |
beta-SG |
MMRRC Submission |
039120-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.216)
|
Stock # |
R1016 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
73790092-73805080 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 73797183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 192
(H192Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079937
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081170]
|
AlphaFold |
P82349 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081170
AA Change: H192Q
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000079937 Gene: ENSMUSG00000029156 AA Change: H192Q
Domain | Start | End | E-Value | Type |
Pfam:Sarcoglycan_1
|
56 |
305 |
4.3e-67 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201416
|
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.6%
- 20x: 84.3%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ceacam20 |
T |
A |
7: 19,710,227 (GRCm39) |
H6Q |
probably null |
Het |
Clstn1 |
T |
C |
4: 149,731,286 (GRCm39) |
I866T |
probably benign |
Het |
Cntnap1 |
T |
C |
11: 101,068,333 (GRCm39) |
V86A |
probably damaging |
Het |
Crtc1 |
A |
T |
8: 70,844,769 (GRCm39) |
Y351* |
probably null |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
Cyp2j12 |
C |
T |
4: 96,001,102 (GRCm39) |
|
probably null |
Het |
Dmrt2 |
A |
T |
19: 25,652,938 (GRCm39) |
K183N |
probably damaging |
Het |
Fancl |
G |
T |
11: 26,337,195 (GRCm39) |
|
probably benign |
Het |
Fbxo40 |
G |
A |
16: 36,789,539 (GRCm39) |
Q524* |
probably null |
Het |
Flcn |
T |
C |
11: 59,686,691 (GRCm39) |
|
probably null |
Het |
Gm19965 |
T |
A |
1: 116,749,031 (GRCm39) |
C237* |
probably null |
Het |
Hpf1 |
A |
G |
8: 61,348,678 (GRCm39) |
Y131C |
possibly damaging |
Het |
Mdh1 |
A |
G |
11: 21,509,769 (GRCm39) |
L202P |
probably benign |
Het |
Mpl |
T |
C |
4: 118,306,110 (GRCm39) |
Y310C |
probably damaging |
Het |
Mtus1 |
A |
G |
8: 41,503,063 (GRCm39) |
V784A |
probably benign |
Het |
Myg1 |
T |
C |
15: 102,242,786 (GRCm39) |
I159T |
possibly damaging |
Het |
Nans |
T |
C |
4: 46,500,716 (GRCm39) |
Y203H |
probably benign |
Het |
Ncapg2 |
G |
A |
12: 116,402,295 (GRCm39) |
C709Y |
probably damaging |
Het |
Or8b36 |
T |
C |
9: 37,937,987 (GRCm39) |
V295A |
probably damaging |
Het |
Parp12 |
T |
C |
6: 39,088,660 (GRCm39) |
Y192C |
probably damaging |
Het |
Plekha6 |
A |
G |
1: 133,187,832 (GRCm39) |
N118D |
probably benign |
Het |
Prg4 |
T |
C |
1: 150,330,442 (GRCm39) |
|
probably benign |
Het |
Psip1 |
T |
C |
4: 83,378,135 (GRCm39) |
T454A |
possibly damaging |
Het |
Ptprz1 |
T |
C |
6: 23,000,973 (GRCm39) |
L1021P |
probably damaging |
Het |
Pvr |
T |
C |
7: 19,643,142 (GRCm39) |
I364V |
probably benign |
Het |
Serpina5 |
A |
G |
12: 104,071,582 (GRCm39) |
I396M |
probably damaging |
Het |
Slc4a9 |
C |
A |
18: 36,664,478 (GRCm39) |
H379N |
probably benign |
Het |
Tet1 |
T |
C |
10: 62,715,729 (GRCm39) |
D22G |
probably benign |
Het |
Trim34a |
T |
C |
7: 103,897,167 (GRCm39) |
V77A |
probably benign |
Het |
Ttc7b |
T |
C |
12: 100,369,617 (GRCm39) |
E384G |
probably null |
Het |
Vmn2r16 |
G |
A |
5: 109,487,754 (GRCm39) |
G209D |
probably 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 |
|
R1119:Sgcb
|
UTSW |
5 |
73,801,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R1293:Sgcb
|
UTSW |
5 |
73,792,870 (GRCm39) |
missense |
probably benign |
0.13 |
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'- AACTCTGGACTATGCAAGGCAGGC -3'
(R):5'- TCGCATCCTTTGAGAACAGACTCAC -3'
Sequencing Primer
(F):5'- TGTGCAGGCTAAGGCCAG -3'
(R):5'- TTTGAGAACAGACTCACAATGAAGC -3'
|
Posted On |
2014-01-05 |