Incidental Mutation 'H8441:Stk32b'
| ID |
82539 |
| 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 # |
H8441 (G3)
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: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
C |
11: 50,675,505 (GRCm39) |
D677A |
probably damaging |
Het |
| Dido1 |
G |
T |
2: 180,330,807 (GRCm39) |
Q214K |
probably benign |
Het |
| H2-T5 |
T |
A |
17: 36,478,874 (GRCm39) |
Q125L |
possibly damaging |
Het |
| Itgbl1 |
A |
G |
14: 124,210,699 (GRCm39) |
N342D |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,152,815 (GRCm39) |
I282T |
probably damaging |
Het |
| Or6b13 |
C |
T |
7: 139,781,871 (GRCm39) |
D271N |
possibly damaging |
Het |
| Pes1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
11: 3,927,636 (GRCm39) |
|
probably benign |
Het |
| Phf2 |
C |
T |
13: 48,957,841 (GRCm39) |
A1058T |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,618,192 (GRCm39) |
D69G |
probably damaging |
Het |
| Pnmt |
G |
A |
11: 98,278,513 (GRCm39) |
A160T |
probably benign |
Het |
| Pomgnt2 |
T |
G |
9: 121,811,650 (GRCm39) |
Y377S |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,636,976 (GRCm39) |
I242F |
probably damaging |
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 |
| Susd5 |
A |
T |
9: 113,925,253 (GRCm39) |
K379* |
probably null |
Het |
| Tbc1d16 |
C |
A |
11: 119,039,840 (GRCm39) |
E656* |
probably null |
Het |
| Tcp10b |
T |
C |
17: 13,289,748 (GRCm39) |
S234P |
probably damaging |
Het |
| Vmo1 |
A |
G |
11: 70,404,572 (GRCm39) |
F143S |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,702,169 (GRCm39) |
E161G |
possibly damaging |
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 |
|
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 |
|
|
V1024:Stk32b
|
UTSW |
5 |
37,614,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGAACAGCAATGTCCACCACC -3'
(R):5'- TGGGACTGTGTCTCTGAACCGATG -3'
Sequencing Primer
(F):5'- tcaagtaatggaagtaatcccaaag -3'
(R):5'- TCTCTGAACCGATGGTGTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation