Incidental Mutation 'IGL00502:Stk32a'
| ID |
3336 |
| 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 # |
IGL00502
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
43340762-43450546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43443510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 229
(T229I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045477]
|
| AlphaFold |
Q8BGW6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045477
AA Change: T229I
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000038471
Gene: ENSMUSG00000039954
AA Change: T229I
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
A |
T |
15: 94,301,278 (GRCm39) |
I82N |
probably damaging |
Het |
| Ampd2 |
A |
T |
3: 107,984,712 (GRCm39) |
L422H |
probably damaging |
Het |
| Angptl2 |
T |
A |
2: 33,118,406 (GRCm39) |
V60E |
probably damaging |
Het |
| Ano3 |
G |
A |
2: 110,601,395 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
A |
G |
2: 158,373,078 (GRCm39) |
D112G |
probably benign |
Het |
| Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
| Btrc |
A |
T |
19: 45,515,704 (GRCm39) |
E553V |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,541,212 (GRCm39) |
Y1323* |
probably null |
Het |
| Ccdc146 |
A |
G |
5: 21,506,420 (GRCm39) |
C674R |
possibly damaging |
Het |
| Ccdc170 |
A |
G |
10: 4,496,836 (GRCm39) |
D458G |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,438,198 (GRCm39) |
M898L |
probably benign |
Het |
| Crybg1 |
C |
T |
10: 43,834,309 (GRCm39) |
V1961I |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,381,822 (GRCm39) |
S2257P |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,717,999 (GRCm39) |
V12A |
probably benign |
Het |
| Foxk2 |
A |
G |
11: 121,187,925 (GRCm39) |
|
probably benign |
Het |
| Galnt2l |
T |
C |
8: 125,054,837 (GRCm39) |
M204T |
probably damaging |
Het |
| Gfi1b |
G |
A |
2: 28,504,797 (GRCm39) |
Q70* |
probably null |
Het |
| Gsdmc |
T |
C |
15: 63,676,270 (GRCm39) |
T58A |
probably benign |
Het |
| Hikeshi |
G |
A |
7: 89,572,818 (GRCm39) |
T26I |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,287,960 (GRCm39) |
D433G |
probably damaging |
Het |
| Ndufb5 |
T |
A |
3: 32,799,048 (GRCm39) |
V55D |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,014,336 (GRCm39) |
S431P |
probably benign |
Het |
| Pdcd1lg2 |
A |
T |
19: 29,423,462 (GRCm39) |
T169S |
possibly damaging |
Het |
| Plekha7 |
A |
T |
7: 115,734,419 (GRCm39) |
M1006K |
probably damaging |
Het |
| Rgs6 |
A |
T |
12: 83,098,097 (GRCm39) |
I94F |
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,370,380 (GRCm39) |
D938V |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,705,319 (GRCm39) |
T842A |
possibly damaging |
Het |
| Spata21 |
C |
A |
4: 140,838,675 (GRCm39) |
|
probably null |
Het |
| Tent4b |
C |
T |
8: 88,978,886 (GRCm39) |
Q63* |
probably null |
Het |
| Trim33 |
C |
T |
3: 103,237,498 (GRCm39) |
P185S |
probably benign |
Het |
| Tspoap1 |
A |
G |
11: 87,668,647 (GRCm39) |
|
probably null |
Het |
| Vcan |
A |
G |
13: 89,840,438 (GRCm39) |
V742A |
probably benign |
Het |
| Vrtn |
A |
T |
12: 84,695,837 (GRCm39) |
I196F |
probably benign |
Het |
| Wasf1 |
A |
T |
10: 40,796,293 (GRCm39) |
I8F |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,980,879 (GRCm39) |
I491M |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,809,775 (GRCm39) |
T1095A |
possibly damaging |
Het |
|
| Other mutations in Stk32a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00704:Stk32a
|
APN |
18 |
43,394,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00813:Stk32a
|
APN |
18 |
43,443,585 (GRCm39) |
missense |
probably benign |
0.10 |
|
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 |
2012-04-20 |
Incidental Mutation