Incidental Mutation 'R0670:Gsk3b'
| ID |
61408 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsk3b
|
| Ensembl Gene |
ENSMUSG00000022812 |
| Gene Name |
glycogen synthase kinase 3 beta |
| Synonyms |
8430431H08Rik, GSK-3, GSK3, 7330414F15Rik, GSK-3beta |
| MMRRC Submission |
038855-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.944)
|
| Stock # |
R0670 (G1)
|
| Quality Score |
125 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
37909363-38066446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 37964678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 49
(D49Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023507]
[ENSMUST00000114750]
|
| AlphaFold |
Q9WV60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023507
AA Change: D49Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023507
Gene: ENSMUSG00000022812
AA Change: D49Y
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
56 |
340 |
1.72e-86 |
SMART |
|
low complexity region
|
386 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
419 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114750
AA Change: D49Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110398
Gene: ENSMUSG00000022812
AA Change: D49Y
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
56 |
353 |
1.13e-86 |
SMART |
|
low complexity region
|
399 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134870
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine-threonine kinase, belonging to the glycogen synthase kinase subfamily. It is involved in energy metabolism, neuronal cell development, and body pattern formation. Polymorphisms in this gene have been implicated in modifying risk of Parkinson disease, and studies in mice show that overexpression of this gene may be relevant to the pathogenesis of Alzheimer disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene may die embryonically around mid-gestation or neonatally. When mice die neonatally, cleft palate and sternum are present. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
| Abraxas2 |
A |
T |
7: 132,470,760 (GRCm39) |
|
probably null |
Het |
| Afap1l2 |
G |
A |
19: 56,904,235 (GRCm39) |
T684I |
probably damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,578,481 (GRCm39) |
V205E |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,853,784 (GRCm39) |
|
probably null |
Het |
| Brms1 |
C |
A |
19: 5,095,999 (GRCm39) |
N24K |
probably damaging |
Het |
| Celf3 |
ACAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCA |
3: 94,395,537 (GRCm39) |
|
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,180,544 (GRCm39) |
K130E |
possibly damaging |
Het |
| Crisp1 |
A |
C |
17: 40,616,001 (GRCm39) |
Y125* |
probably null |
Het |
| Dnhd1 |
A |
T |
7: 105,345,671 (GRCm39) |
D2272V |
possibly damaging |
Het |
| Elmod1 |
A |
G |
9: 53,820,106 (GRCm39) |
V294A |
probably damaging |
Het |
| Gmfg |
T |
A |
7: 28,140,953 (GRCm39) |
I33K |
probably damaging |
Het |
| H2-T5 |
G |
C |
17: 36,478,990 (GRCm39) |
F86L |
possibly damaging |
Het |
| Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
| Hspbp1 |
A |
G |
7: 4,680,735 (GRCm39) |
V247A |
probably damaging |
Het |
| Kif17 |
A |
T |
4: 137,989,810 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
T |
A |
16: 19,768,309 (GRCm39) |
H412L |
possibly damaging |
Het |
| Muc1 |
A |
G |
3: 89,137,839 (GRCm39) |
D227G |
probably benign |
Het |
| Nat8f5 |
A |
T |
6: 85,794,957 (GRCm39) |
M1K |
probably null |
Het |
| Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
| Nfrkb |
A |
T |
9: 31,331,469 (GRCm39) |
Q1295L |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,429,701 (GRCm39) |
D558V |
probably damaging |
Het |
| Pdilt |
T |
C |
7: 119,099,651 (GRCm39) |
K206E |
probably benign |
Het |
| Pkn2 |
A |
T |
3: 142,545,104 (GRCm39) |
I23K |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,090,160 (GRCm39) |
L60Q |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,316,520 (GRCm39) |
D2413E |
probably benign |
Het |
| Socs1 |
A |
G |
16: 10,602,126 (GRCm39) |
Y204H |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,196,526 (GRCm39) |
D301G |
possibly damaging |
Het |
| Tlr5 |
T |
A |
1: 182,801,454 (GRCm39) |
W253R |
probably damaging |
Het |
| Treml2 |
A |
G |
17: 48,614,864 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,579,448 (GRCm39) |
L22069P |
probably damaging |
Het |
| Vps13c |
G |
T |
9: 67,833,139 (GRCm39) |
S1614I |
probably benign |
Het |
| Vrk2 |
C |
T |
11: 26,436,959 (GRCm39) |
|
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,873,109 (GRCm39) |
Y655C |
probably damaging |
Het |
|
| Other mutations in Gsk3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Gsk3b
|
APN |
16 |
38,049,069 (GRCm39) |
missense |
probably benign |
|
|
IGL01302:Gsk3b
|
APN |
16 |
38,040,380 (GRCm39) |
missense |
probably benign |
0.01 |
|
blue_bunny
|
UTSW |
16 |
38,028,498 (GRCm39) |
intron |
probably benign |
|
|
PIT4402001:Gsk3b
|
UTSW |
16 |
37,909,763 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4585001:Gsk3b
|
UTSW |
16 |
38,004,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1118:Gsk3b
|
UTSW |
16 |
38,028,346 (GRCm39) |
unclassified |
probably benign |
|
|
R1119:Gsk3b
|
UTSW |
16 |
38,028,346 (GRCm39) |
unclassified |
probably benign |
|
|
R1428:Gsk3b
|
UTSW |
16 |
37,910,937 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1897:Gsk3b
|
UTSW |
16 |
38,037,446 (GRCm39) |
splice site |
probably null |
|
|
R2056:Gsk3b
|
UTSW |
16 |
38,008,271 (GRCm39) |
missense |
probably benign |
|
|
R2058:Gsk3b
|
UTSW |
16 |
38,008,271 (GRCm39) |
missense |
probably benign |
|
|
R2059:Gsk3b
|
UTSW |
16 |
38,008,271 (GRCm39) |
missense |
probably benign |
|
|
R4428:Gsk3b
|
UTSW |
16 |
38,014,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4594:Gsk3b
|
UTSW |
16 |
37,991,063 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5133:Gsk3b
|
UTSW |
16 |
38,060,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5134:Gsk3b
|
UTSW |
16 |
38,060,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5726:Gsk3b
|
UTSW |
16 |
38,028,498 (GRCm39) |
intron |
probably benign |
|
|
R5957:Gsk3b
|
UTSW |
16 |
38,014,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6273:Gsk3b
|
UTSW |
16 |
38,028,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6431:Gsk3b
|
UTSW |
16 |
38,014,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8344:Gsk3b
|
UTSW |
16 |
38,011,987 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8855:Gsk3b
|
UTSW |
16 |
38,004,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8866:Gsk3b
|
UTSW |
16 |
38,004,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gsk3b
|
UTSW |
16 |
38,028,432 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTATTCACCCTTCTCCAAACCTCA -3'
(R):5'- GCTAAGGCACAGGAGGATGCTGA -3'
Sequencing Primer
(F):5'- ACATTGTAGGCAGTATTTTTCAGC -3'
(R):5'- ggaagggagggaagggag -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation