Incidental Mutation 'V1024:Stk32b'
| ID |
44012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk32b
|
| Ensembl Gene |
ENSMUSG00000029123 |
| Gene Name |
serine/threonine kinase 32B |
| Synonyms |
YANK2, 2510009F08Rik, Stk32, STKG6 |
| Accession Numbers |
|
| Is this an essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
V1024 ()
of strain
599
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
37446825-37717171 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37457234 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 310
(D310G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094836]
|
| AlphaFold |
Q9JJX8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094836
AA Change: D310G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092432
Gene: ENSMUSG00000029123
AA Change: D310G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
23 |
283 |
1.18e-84 |
SMART |
|
low complexity region
|
323 |
336 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.8%
|
| Validation Efficiency |
50% (2/4) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dido1 |
G |
T |
2: 180,689,014 |
Q214K |
probably benign |
Het |
| Itgbl1 |
A |
G |
14: 123,973,287 |
N342D |
probably damaging |
Het |
| Loxl3 |
A |
T |
6: 83,035,738 |
E86V |
probably damaging |
Het |
| Phf2 |
C |
T |
13: 48,804,365 |
A1058T |
possibly damaging |
Het |
| Plxna4 |
G |
A |
6: 32,234,574 |
R677W |
probably damaging |
Het |
| Pnmt |
G |
A |
11: 98,387,687 |
A160T |
probably benign |
Het |
| Rab24 |
C |
T |
13: 55,320,748 |
D144N |
probably benign |
Het |
| Slc7a1 |
C |
T |
5: 148,334,545 |
V535M |
probably benign |
Het |
| Sult3a2 |
A |
T |
10: 33,766,478 |
H276Q |
probably benign |
Het |
| Vmo1 |
A |
G |
11: 70,513,746 |
F143S |
probably damaging |
Het |
| Zc3h18 |
TGAGGAGGAGGAGGAG |
TGAGGAGGAGGAG |
8: 122,383,857 |
|
probably benign |
Het |
|
| Other mutations in Stk32b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02166:Stk32b
|
APN |
5 |
37499030 |
splice site |
probably benign |
|
|
IGL02525:Stk32b
|
APN |
5 |
37531633 |
missense |
probably damaging |
1.00 |
|
IGL02946:Stk32b
|
APN |
5 |
37531539 |
splice site |
probably benign |
|
|
IGL03277:Stk32b
|
APN |
5 |
37628976 |
missense |
probably damaging |
0.99 |
|
flank
|
UTSW |
5 |
37466781 |
missense |
probably damaging |
1.00 |
|
H8441:Stk32b
|
UTSW |
5 |
37457234 |
missense |
probably damaging |
1.00 |
|
R0042:Stk32b
|
UTSW |
5 |
37716748 |
missense |
probably benign |
0.09 |
|
R0042:Stk32b
|
UTSW |
5 |
37716748 |
missense |
probably benign |
0.09 |
|
R0051:Stk32b
|
UTSW |
5 |
37459596 |
splice site |
probably benign |
|
|
R0051:Stk32b
|
UTSW |
5 |
37459596 |
splice site |
probably benign |
|
|
R0062:Stk32b
|
UTSW |
5 |
37461448 |
missense |
probably damaging |
1.00 |
|
R0062:Stk32b
|
UTSW |
5 |
37461448 |
missense |
probably damaging |
1.00 |
|
R0601:Stk32b
|
UTSW |
5 |
37531566 |
missense |
probably damaging |
1.00 |
|
R0879:Stk32b
|
UTSW |
5 |
37459596 |
splice site |
probably benign |
|
|
R1812:Stk32b
|
UTSW |
5 |
37466758 |
missense |
probably damaging |
1.00 |
|
R1882:Stk32b
|
UTSW |
5 |
37531687 |
missense |
possibly damaging |
0.91 |
|
R1982:Stk32b
|
UTSW |
5 |
37649114 |
missense |
probably damaging |
0.99 |
|
R3899:Stk32b
|
UTSW |
5 |
37457154 |
missense |
probably damaging |
1.00 |
|
R4724:Stk32b
|
UTSW |
5 |
37454934 |
critical splice donor site |
probably null |
|
|
R4885:Stk32b
|
UTSW |
5 |
37466797 |
missense |
probably damaging |
1.00 |
|
R5531:Stk32b
|
UTSW |
5 |
37459734 |
splice site |
probably null |
|
|
R5629:Stk32b
|
UTSW |
5 |
37457232 |
missense |
probably damaging |
1.00 |
|
R6042:Stk32b
|
UTSW |
5 |
37649114 |
missense |
probably damaging |
0.99 |
|
R6610:Stk32b
|
UTSW |
5 |
37448678 |
missense |
probably benign |
0.04 |
|
R6864:Stk32b
|
UTSW |
5 |
37448805 |
splice site |
probably null |
|
|
R6879:Stk32b
|
UTSW |
5 |
37490523 |
missense |
possibly damaging |
0.77 |
|
R7186:Stk32b
|
UTSW |
5 |
37466781 |
missense |
probably damaging |
1.00 |
|
R8317:Stk32b
|
UTSW |
5 |
37454975 |
missense |
probably damaging |
0.99 |
|
R8676:Stk32b
|
UTSW |
5 |
37457159 |
missense |
probably benign |
0.00 |
|
R8795:Stk32b
|
UTSW |
5 |
37649139 |
missense |
probably damaging |
0.98 |
|
R8948:Stk32b
|
UTSW |
5 |
37454997 |
missense |
possibly damaging |
0.87 |
|
R9192:Stk32b
|
UTSW |
5 |
37629000 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACAGCAATGTCCACCACCTATG -3'
(R):5'- TGGGACTGTGTCTCTGAACCGATG -3'
Sequencing Primer
(F):5'- tcaagtaatggaagtaatcccaaag -3'
(R):5'- TCTCTGAACCGATGGTGTG -3'
|
| Posted On |
2013-05-31 |
