Incidental Mutation 'R0879:Stk32b'
| ID |
81916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk32b
|
| Ensembl Gene |
ENSMUSG00000029123 |
| Gene Name |
serine/threonine kinase 32B |
| Synonyms |
Stk32, 2510009F08Rik, YANK2, STKG6 |
| MMRRC Submission |
039046-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R0879 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
37604169-37874503 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 37616940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094836]
|
| AlphaFold |
Q9JJX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094836
|
| SMART Domains |
Protein: ENSMUSP00000092432
Gene: ENSMUSG00000029123
| 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: 99.5%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.3%
|
| Validation Efficiency |
100% (41/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
T |
A |
9: 63,524,892 (GRCm39) |
|
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,559 (GRCm39) |
D25G |
possibly damaging |
Het |
| Adprs |
C |
T |
4: 126,210,410 (GRCm39) |
V357I |
probably benign |
Het |
| Akap6 |
G |
T |
12: 52,927,582 (GRCm39) |
R164L |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,957,173 (GRCm39) |
N972S |
probably damaging |
Het |
| Brd2 |
A |
T |
17: 34,332,420 (GRCm39) |
V232D |
probably benign |
Het |
| C6 |
A |
G |
15: 4,792,818 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
A |
C |
7: 17,491,627 (GRCm39) |
I666L |
probably benign |
Het |
| Col7a1 |
T |
C |
9: 108,805,159 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,947,661 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,467,019 (GRCm39) |
V3615E |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,800,816 (GRCm39) |
|
probably null |
Het |
| Enpp2 |
T |
C |
15: 54,741,326 (GRCm39) |
E324G |
probably damaging |
Het |
| Fgd4 |
A |
G |
16: 16,295,313 (GRCm39) |
V222A |
probably damaging |
Het |
| Gm4076 |
A |
G |
13: 85,275,326 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4775 |
T |
C |
14: 106,338,227 (GRCm39) |
|
noncoding transcript |
Het |
| Igsf9b |
T |
C |
9: 27,245,038 (GRCm39) |
S1002P |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,942,001 (GRCm39) |
S244P |
possibly damaging |
Het |
| Klhl41 |
A |
T |
2: 69,513,827 (GRCm39) |
|
probably benign |
Het |
| Ltbr |
A |
G |
6: 125,290,338 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,037,896 (GRCm39) |
E804G |
possibly damaging |
Het |
| Mybpc1 |
G |
A |
10: 88,407,378 (GRCm39) |
|
probably benign |
Het |
| Npas4 |
T |
C |
19: 5,036,944 (GRCm39) |
R407G |
probably benign |
Het |
| Oxnad1 |
T |
A |
14: 31,821,553 (GRCm39) |
Y213N |
probably damaging |
Het |
| Pde6d |
A |
G |
1: 86,473,523 (GRCm39) |
F91S |
probably benign |
Het |
| Pelp1 |
A |
G |
11: 70,286,123 (GRCm39) |
|
probably benign |
Het |
| Plscr2 |
T |
C |
9: 92,169,846 (GRCm39) |
Y99H |
probably damaging |
Het |
| Rft1 |
T |
C |
14: 30,404,705 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,860,588 (GRCm39) |
Y30C |
probably benign |
Het |
| Selenbp2 |
A |
G |
3: 94,606,863 (GRCm39) |
T108A |
possibly damaging |
Het |
| Stra6 |
T |
C |
9: 58,042,487 (GRCm39) |
|
probably null |
Het |
| Usp17le |
A |
T |
7: 104,418,854 (GRCm39) |
L96Q |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,418,855 (GRCm39) |
L96M |
possibly damaging |
Het |
| Vmn1r76 |
A |
T |
7: 11,664,662 (GRCm39) |
I184N |
probably benign |
Het |
| Vmn2r102 |
T |
C |
17: 19,914,454 (GRCm39) |
V673A |
probably damaging |
Het |
| Wdr17 |
T |
G |
8: 55,114,516 (GRCm39) |
I667L |
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,811,218 (GRCm39) |
T609A |
probably benign |
Het |
| Zfp821 |
T |
C |
8: 110,448,474 (GRCm39) |
I135T |
possibly damaging |
Het |
| Zfp865 |
A |
G |
7: 5,034,342 (GRCm39) |
T776A |
probably benign |
Het |
| Zp2 |
G |
T |
7: 119,734,757 (GRCm39) |
P477Q |
probably 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 |
|
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 |
|
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'- CACCTTGGAAGTCTGGTCCACATAC -3'
(R):5'- TGAGTTGACCTTGAAGTCCCTCCC -3'
Sequencing Primer
(F):5'- AGTCTGGTCCACATACCCTGG -3'
(R):5'- GAGGAGTCATGTTCCAAGTCC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation