Incidental Mutation 'V1024:Stk32b'
ID |
44012 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stk32b
|
Ensembl Gene |
ENSMUSG00000029123 |
Gene Name |
serine/threonine kinase 32B |
Synonyms |
Stk32, 2510009F08Rik, YANK2, STKG6 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
V1024 ()
of strain
599
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
37604169-37874503 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37614578 bp (GRCm39)
|
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: 180,330,807 (GRCm39) |
Q214K |
probably benign |
Het |
Itgbl1 |
A |
G |
14: 124,210,699 (GRCm39) |
N342D |
probably damaging |
Het |
Loxl3 |
A |
T |
6: 83,012,719 (GRCm39) |
E86V |
probably damaging |
Het |
Phf2 |
C |
T |
13: 48,957,841 (GRCm39) |
A1058T |
possibly damaging |
Het |
Plxna4 |
G |
A |
6: 32,211,509 (GRCm39) |
R677W |
probably damaging |
Het |
Pnmt |
G |
A |
11: 98,278,513 (GRCm39) |
A160T |
probably benign |
Het |
Rab24 |
C |
T |
13: 55,468,561 (GRCm39) |
D144N |
probably benign |
Het |
Slc7a1 |
C |
T |
5: 148,271,355 (GRCm39) |
V535M |
probably benign |
Het |
Sult3a2 |
A |
T |
10: 33,642,474 (GRCm39) |
H276Q |
probably benign |
Het |
Vmo1 |
A |
G |
11: 70,404,572 (GRCm39) |
F143S |
probably damaging |
Het |
Zc3h18 |
TGAGGAGGAGGAGGAG |
TGAGGAGGAGGAG |
8: 123,110,596 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Stk32b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02166:Stk32b
|
APN |
5 |
37,656,374 (GRCm39) |
splice site |
probably benign |
|
IGL02525:Stk32b
|
APN |
5 |
37,688,977 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02946:Stk32b
|
APN |
5 |
37,688,883 (GRCm39) |
splice site |
probably benign |
|
IGL03277:Stk32b
|
APN |
5 |
37,786,320 (GRCm39) |
missense |
probably damaging |
0.99 |
flank
|
UTSW |
5 |
37,624,125 (GRCm39) |
missense |
probably damaging |
1.00 |
H8441:Stk32b
|
UTSW |
5 |
37,614,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R0042:Stk32b
|
UTSW |
5 |
37,874,092 (GRCm39) |
missense |
probably benign |
0.09 |
R0042:Stk32b
|
UTSW |
5 |
37,874,092 (GRCm39) |
missense |
probably benign |
0.09 |
R0051:Stk32b
|
UTSW |
5 |
37,616,940 (GRCm39) |
splice site |
probably benign |
|
R0051:Stk32b
|
UTSW |
5 |
37,616,940 (GRCm39) |
splice site |
probably benign |
|
R0062:Stk32b
|
UTSW |
5 |
37,618,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R0062:Stk32b
|
UTSW |
5 |
37,618,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R0601:Stk32b
|
UTSW |
5 |
37,688,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R0879:Stk32b
|
UTSW |
5 |
37,616,940 (GRCm39) |
splice site |
probably benign |
|
R1812:Stk32b
|
UTSW |
5 |
37,624,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R1882:Stk32b
|
UTSW |
5 |
37,689,031 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1982:Stk32b
|
UTSW |
5 |
37,806,458 (GRCm39) |
missense |
probably damaging |
0.99 |
R3899:Stk32b
|
UTSW |
5 |
37,614,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R4724:Stk32b
|
UTSW |
5 |
37,612,278 (GRCm39) |
critical splice donor site |
probably null |
|
R4885:Stk32b
|
UTSW |
5 |
37,624,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R5531:Stk32b
|
UTSW |
5 |
37,617,078 (GRCm39) |
splice site |
probably null |
|
R5629:Stk32b
|
UTSW |
5 |
37,614,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R6042:Stk32b
|
UTSW |
5 |
37,806,458 (GRCm39) |
missense |
probably damaging |
0.99 |
R6610:Stk32b
|
UTSW |
5 |
37,606,022 (GRCm39) |
missense |
probably benign |
0.04 |
R6864:Stk32b
|
UTSW |
5 |
37,606,149 (GRCm39) |
splice site |
probably null |
|
R6879:Stk32b
|
UTSW |
5 |
37,647,867 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7186:Stk32b
|
UTSW |
5 |
37,624,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R8317:Stk32b
|
UTSW |
5 |
37,612,319 (GRCm39) |
missense |
probably damaging |
0.99 |
R8676:Stk32b
|
UTSW |
5 |
37,614,503 (GRCm39) |
missense |
probably benign |
0.00 |
R8795:Stk32b
|
UTSW |
5 |
37,806,483 (GRCm39) |
missense |
probably damaging |
0.98 |
R8948:Stk32b
|
UTSW |
5 |
37,612,341 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9192:Stk32b
|
UTSW |
5 |
37,786,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R9776:Stk32b
|
UTSW |
5 |
37,617,001 (GRCm39) |
missense |
probably benign |
|
|
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 |