Incidental Mutation 'IGL03277:Stk32b'
| ID |
415450 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03277
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
37604169-37874503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 37786320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 48
(M48R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094836]
|
| AlphaFold |
Q9JJX8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094836
AA Change: M48R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092432
Gene: ENSMUSG00000029123
AA Change: M48R
| 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 |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amt |
A |
G |
9: 108,178,418 (GRCm39) |
T342A |
probably benign |
Het |
| Atosa |
G |
A |
9: 74,916,514 (GRCm39) |
R371Q |
probably damaging |
Het |
| B3glct |
T |
C |
5: 149,650,299 (GRCm39) |
L134P |
probably damaging |
Het |
| Bms1 |
A |
T |
6: 118,382,083 (GRCm39) |
M485K |
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,824,981 (GRCm39) |
N1226S |
probably null |
Het |
| Cpne2 |
T |
C |
8: 95,275,000 (GRCm39) |
Y3H |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,311,504 (GRCm39) |
V1739A |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,669,481 (GRCm39) |
T543S |
probably benign |
Het |
| Dock11 |
T |
G |
X: 35,277,603 (GRCm39) |
V1000G |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,735 (GRCm39) |
N60Y |
probably benign |
Het |
| Eif3d |
A |
G |
15: 77,843,849 (GRCm39) |
M499T |
possibly damaging |
Het |
| Elmod1 |
G |
A |
9: 53,833,272 (GRCm39) |
L178F |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,148,940 (GRCm39) |
S101P |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,424,642 (GRCm39) |
V684A |
possibly damaging |
Het |
| Mtx2 |
A |
G |
2: 74,698,748 (GRCm39) |
T124A |
probably damaging |
Het |
| Nat3 |
T |
A |
8: 68,000,341 (GRCm39) |
H73Q |
probably benign |
Het |
| Ndst2 |
A |
G |
14: 20,780,234 (GRCm39) |
L2P |
possibly damaging |
Het |
| Nipsnap3a |
G |
T |
4: 52,997,219 (GRCm39) |
A162S |
probably benign |
Het |
| Or2a57 |
T |
G |
6: 43,212,876 (GRCm39) |
C111W |
probably damaging |
Het |
| Or5m5 |
T |
C |
2: 85,814,517 (GRCm39) |
I111T |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,714,673 (GRCm39) |
D183G |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,328,887 (GRCm39) |
E454G |
probably benign |
Het |
| Prom1 |
G |
A |
5: 44,190,313 (GRCm39) |
Q364* |
probably null |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Sema5b |
A |
G |
16: 35,471,682 (GRCm39) |
D425G |
probably damaging |
Het |
| Slc16a7 |
A |
T |
10: 125,066,560 (GRCm39) |
C360S |
probably benign |
Het |
| Slc38a7 |
T |
A |
8: 96,575,104 (GRCm39) |
I59F |
probably damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,195,372 (GRCm39) |
C449R |
possibly damaging |
Het |
| Slc9b1 |
T |
C |
3: 135,096,269 (GRCm39) |
Y357H |
possibly damaging |
Het |
| Snx17 |
A |
T |
5: 31,353,084 (GRCm39) |
|
probably benign |
Het |
| Tspan9 |
A |
G |
6: 127,944,038 (GRCm39) |
|
probably null |
Het |
| Tst |
A |
T |
15: 78,289,521 (GRCm39) |
N171K |
probably damaging |
Het |
| Vmn1r180 |
T |
A |
7: 23,652,710 (GRCm39) |
I291N |
probably damaging |
Het |
| Vmn2r32 |
T |
A |
7: 7,477,251 (GRCm39) |
D380V |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,790,861 (GRCm39) |
T2189A |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,438,800 (GRCm39) |
N640S |
possibly damaging |
Het |
| Zfp142 |
A |
G |
1: 74,610,193 (GRCm39) |
S1098P |
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 |
|
|
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 |
|
|
V1024:Stk32b
|
UTSW |
5 |
37,614,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation