Incidental Mutation 'R1119:Gsk3b'
| ID |
97794 |
| 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 |
039192-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R1119 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
37909363-38066446 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 38028346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023507]
[ENSMUST00000114750]
|
| AlphaFold |
Q9WV60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023507
|
| SMART Domains |
Protein: ENSMUSP00000023507
Gene: ENSMUSG00000022812
| 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 benign
Transcript: ENSMUST00000114750
|
| SMART Domains |
Protein: ENSMUSP00000110398
Gene: ENSMUSG00000022812
| 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: ENSMUST00000184976
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231437
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.4%
|
| Validation Efficiency |
100% (51/51) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
A |
C |
7: 82,189,525 (GRCm39) |
E583A |
probably damaging |
Het |
| Aoah |
T |
A |
13: 21,099,108 (GRCm39) |
|
probably benign |
Het |
| Atf7ip2 |
A |
G |
16: 10,058,476 (GRCm39) |
K305R |
possibly damaging |
Het |
| Bltp1 |
T |
G |
3: 37,041,194 (GRCm39) |
V2524G |
probably damaging |
Het |
| Cd200r2 |
A |
G |
16: 44,729,969 (GRCm39) |
N171S |
probably damaging |
Het |
| Cfap57 |
G |
A |
4: 118,463,873 (GRCm39) |
Q327* |
probably null |
Het |
| Ckap2l |
A |
T |
2: 129,114,492 (GRCm39) |
|
probably benign |
Het |
| Cul2 |
A |
G |
18: 3,419,335 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,395,578 (GRCm39) |
V172M |
probably damaging |
Het |
| Drp2 |
T |
C |
X: 133,342,071 (GRCm39) |
L545P |
probably damaging |
Het |
| Ezh1 |
A |
G |
11: 101,101,361 (GRCm39) |
|
probably benign |
Het |
| Gipc2 |
A |
G |
3: 151,799,833 (GRCm39) |
F299S |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hikeshi |
A |
G |
7: 89,584,938 (GRCm39) |
S89P |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,494,679 (GRCm39) |
A4137T |
possibly damaging |
Het |
| Itprid1 |
T |
C |
6: 55,866,155 (GRCm39) |
F183L |
probably damaging |
Het |
| Larp1b |
C |
A |
3: 40,987,963 (GRCm39) |
R62S |
possibly damaging |
Het |
| Lgr5 |
A |
T |
10: 115,296,716 (GRCm39) |
|
probably null |
Het |
| Lpin1 |
C |
A |
12: 16,613,722 (GRCm39) |
D449Y |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 140,242,826 (GRCm39) |
I31L |
probably benign |
Het |
| Meig1 |
T |
C |
2: 3,410,311 (GRCm39) |
D63G |
probably damaging |
Het |
| Ndufa9 |
A |
T |
6: 126,799,031 (GRCm39) |
L362Q |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,083,862 (GRCm39) |
D572E |
probably benign |
Het |
| Nxpe5 |
G |
A |
5: 138,237,658 (GRCm39) |
D61N |
probably benign |
Het |
| Ogdh |
T |
A |
11: 6,290,544 (GRCm39) |
H376Q |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 99,962,535 (GRCm39) |
I431T |
probably damaging |
Het |
| Pcdhb14 |
G |
A |
18: 37,581,640 (GRCm39) |
V249M |
probably damaging |
Het |
| Pcnp |
A |
G |
16: 55,844,754 (GRCm39) |
S49P |
probably damaging |
Het |
| Pik3r6 |
C |
T |
11: 68,436,698 (GRCm39) |
T654I |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,303,552 (GRCm39) |
Y295C |
possibly damaging |
Het |
| Sec16b |
A |
G |
1: 157,392,404 (GRCm39) |
D924G |
possibly damaging |
Het |
| Setd1b |
C |
A |
5: 123,285,779 (GRCm39) |
T275K |
unknown |
Het |
| Sgcb |
T |
A |
5: 73,801,757 (GRCm39) |
K36I |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,742,326 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,695,619 (GRCm39) |
D599G |
possibly damaging |
Het |
| Stk36 |
A |
G |
1: 74,671,925 (GRCm39) |
E875G |
probably benign |
Het |
| Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
| Tax1bp1 |
C |
A |
6: 52,718,933 (GRCm39) |
|
probably benign |
Het |
| Thnsl1 |
A |
G |
2: 21,217,857 (GRCm39) |
N16S |
probably damaging |
Het |
| Ticrr |
C |
T |
7: 79,343,701 (GRCm39) |
P1189S |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,904,017 (GRCm39) |
V1053M |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,031,556 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,365 (GRCm39) |
Q576L |
possibly damaging |
Het |
| Zfp62 |
G |
T |
11: 49,107,517 (GRCm39) |
R536L |
probably damaging |
Het |
| Zfp958 |
A |
T |
8: 4,676,169 (GRCm39) |
N46Y |
possibly 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 |
|
R0670:Gsk3b
|
UTSW |
16 |
37,964,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1118: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'- GTATGTCAGTCCCTGGAATCTTGCC -3'
(R):5'- TGAGCCACCTTCACAGAGAACTGC -3'
Sequencing Primer
(F):5'- ccctggaatcttgccctagtAATG -3'
(R):5'- GAGAACTGCTGAGTTTGTAATTGAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation