Incidental Mutation 'IGL00813:Stk32a'
ID |
14273 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Stk32a
|
Ensembl Gene |
ENSMUSG00000039954 |
Gene Name |
serine/threonine kinase 32A |
Synonyms |
A930015B13Rik, YANK1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
IGL00813
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
43340762-43450546 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 43443585 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 254
(V254E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038471
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045477]
|
AlphaFold |
Q8BGW6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045477
AA Change: V254E
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000038471 Gene: ENSMUSG00000039954 AA Change: V254E
Domain | Start | End | E-Value | Type |
S_TKc
|
23 |
281 |
9.58e-85 |
SMART |
low complexity region
|
318 |
339 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
C |
A |
1: 71,392,921 (GRCm39) |
|
probably null |
Het |
Aco1 |
T |
C |
4: 40,180,290 (GRCm39) |
|
probably null |
Het |
Bloc1s5 |
T |
C |
13: 38,803,158 (GRCm39) |
N76S |
probably damaging |
Het |
Cyp3a44 |
A |
T |
5: 145,711,157 (GRCm39) |
*505R |
probably null |
Het |
Epor |
T |
C |
9: 21,871,887 (GRCm39) |
T253A |
possibly damaging |
Het |
Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
Hecw1 |
T |
A |
13: 14,452,961 (GRCm39) |
|
probably null |
Het |
Hhla1 |
A |
T |
15: 65,813,810 (GRCm39) |
V209E |
probably damaging |
Het |
Ino80d |
G |
A |
1: 63,132,462 (GRCm39) |
P67L |
probably damaging |
Het |
Lrrc37 |
A |
C |
11: 103,505,324 (GRCm39) |
F2215V |
probably benign |
Het |
Lysmd3 |
C |
A |
13: 81,813,361 (GRCm39) |
N76K |
probably damaging |
Het |
Map10 |
G |
A |
8: 126,398,671 (GRCm39) |
R688Q |
probably benign |
Het |
Mars1 |
A |
T |
10: 127,135,916 (GRCm39) |
M554K |
probably damaging |
Het |
Mgat5 |
G |
A |
1: 127,312,543 (GRCm39) |
M227I |
probably benign |
Het |
Nup210l |
A |
G |
3: 90,039,725 (GRCm39) |
I389V |
probably benign |
Het |
Ppp1r16b |
A |
G |
2: 158,598,885 (GRCm39) |
K315R |
probably damaging |
Het |
Rae1 |
A |
G |
2: 172,848,726 (GRCm39) |
D114G |
probably damaging |
Het |
Rbms1 |
T |
C |
2: 60,628,049 (GRCm39) |
K64E |
probably damaging |
Het |
Shox2 |
C |
A |
3: 66,882,777 (GRCm39) |
Q105H |
probably damaging |
Het |
Simc1 |
C |
A |
13: 54,694,799 (GRCm39) |
F293L |
probably damaging |
Het |
Slc11a1 |
A |
G |
1: 74,422,639 (GRCm39) |
I289V |
probably benign |
Het |
Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
Them5 |
A |
G |
3: 94,250,595 (GRCm39) |
K53E |
probably damaging |
Het |
Tmem67 |
T |
C |
4: 12,058,587 (GRCm39) |
|
probably benign |
Het |
Wdr7 |
T |
A |
18: 63,868,675 (GRCm39) |
L248Q |
possibly damaging |
Het |
|
Other mutations in Stk32a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00502:Stk32a
|
APN |
18 |
43,443,510 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL00704:Stk32a
|
APN |
18 |
43,394,314 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02121:Stk32a
|
APN |
18 |
43,446,572 (GRCm39) |
missense |
probably benign |
|
IGL02407:Stk32a
|
APN |
18 |
43,430,576 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02957:Stk32a
|
APN |
18 |
43,445,057 (GRCm39) |
missense |
probably benign |
|
R0004:Stk32a
|
UTSW |
18 |
43,438,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R0047:Stk32a
|
UTSW |
18 |
43,446,443 (GRCm39) |
splice site |
probably benign |
|
R0047:Stk32a
|
UTSW |
18 |
43,446,443 (GRCm39) |
splice site |
probably benign |
|
R0288:Stk32a
|
UTSW |
18 |
43,438,060 (GRCm39) |
splice site |
probably null |
|
R0330:Stk32a
|
UTSW |
18 |
43,446,566 (GRCm39) |
missense |
probably benign |
0.15 |
R1337:Stk32a
|
UTSW |
18 |
43,394,414 (GRCm39) |
missense |
probably benign |
0.00 |
R1559:Stk32a
|
UTSW |
18 |
43,376,149 (GRCm39) |
missense |
probably benign |
0.32 |
R1695:Stk32a
|
UTSW |
18 |
43,446,485 (GRCm39) |
nonsense |
probably null |
|
R1874:Stk32a
|
UTSW |
18 |
43,394,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R1954:Stk32a
|
UTSW |
18 |
43,345,090 (GRCm39) |
missense |
probably benign |
0.45 |
R4529:Stk32a
|
UTSW |
18 |
43,376,044 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4980:Stk32a
|
UTSW |
18 |
43,447,113 (GRCm39) |
missense |
probably benign |
0.01 |
R5124:Stk32a
|
UTSW |
18 |
43,438,082 (GRCm39) |
missense |
probably benign |
0.00 |
R5751:Stk32a
|
UTSW |
18 |
43,438,085 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5822:Stk32a
|
UTSW |
18 |
43,446,552 (GRCm39) |
missense |
probably benign |
0.00 |
R5863:Stk32a
|
UTSW |
18 |
43,448,209 (GRCm39) |
missense |
probably benign |
0.00 |
R6167:Stk32a
|
UTSW |
18 |
43,446,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R6355:Stk32a
|
UTSW |
18 |
43,430,659 (GRCm39) |
splice site |
probably null |
|
R6731:Stk32a
|
UTSW |
18 |
43,438,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R7162:Stk32a
|
UTSW |
18 |
43,430,649 (GRCm39) |
nonsense |
probably null |
|
R8001:Stk32a
|
UTSW |
18 |
43,448,209 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8022:Stk32a
|
UTSW |
18 |
43,448,166 (GRCm39) |
nonsense |
probably null |
|
R8485:Stk32a
|
UTSW |
18 |
43,376,075 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8994:Stk32a
|
UTSW |
18 |
43,443,542 (GRCm39) |
missense |
probably benign |
0.03 |
R9097:Stk32a
|
UTSW |
18 |
43,446,497 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9183:Stk32a
|
UTSW |
18 |
43,394,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R9258:Stk32a
|
UTSW |
18 |
43,444,999 (GRCm39) |
missense |
probably benign |
0.27 |
R9610:Stk32a
|
UTSW |
18 |
43,430,620 (GRCm39) |
missense |
probably benign |
|
R9611:Stk32a
|
UTSW |
18 |
43,430,620 (GRCm39) |
missense |
probably benign |
|
R9780:Stk32a
|
UTSW |
18 |
43,375,049 (GRCm39) |
missense |
probably benign |
0.26 |
|
Posted On |
2012-12-06 |