Incidental Mutation 'R4529:Stk32a'
| ID |
333058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk32a
|
| Ensembl Gene |
ENSMUSG00000039954 |
| Gene Name |
serine/threonine kinase 32A |
| Synonyms |
A930015B13Rik, YANK1 |
| MMRRC Submission |
041592-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4529 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
43340762-43450546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43376044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 38
(C38R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045477]
|
| AlphaFold |
Q8BGW6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045477
AA Change: C38R
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038471
Gene: ENSMUSG00000039954
AA Change: C38R
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
A |
G |
17: 57,727,519 (GRCm39) |
Y483C |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Aldh1a3 |
T |
C |
7: 66,051,742 (GRCm39) |
N404D |
probably benign |
Het |
| Ankrd2 |
A |
T |
19: 42,032,240 (GRCm39) |
I231F |
probably benign |
Het |
| Apba1 |
A |
G |
19: 23,913,899 (GRCm39) |
N641D |
probably damaging |
Het |
| C1qbp |
T |
C |
11: 70,869,550 (GRCm39) |
T178A |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,939,592 (GRCm39) |
Y64C |
probably damaging |
Het |
| Cyp1a1 |
A |
G |
9: 57,608,962 (GRCm39) |
H281R |
probably benign |
Het |
| Ehmt2 |
A |
G |
17: 35,132,707 (GRCm39) |
I1235V |
probably damaging |
Het |
| Fcamr |
A |
G |
1: 130,732,313 (GRCm39) |
H44R |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,747 (GRCm39) |
Y582C |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,921 (GRCm39) |
N524S |
possibly damaging |
Het |
| Gm5460 |
A |
C |
14: 33,767,769 (GRCm39) |
D459A |
probably damaging |
Het |
| H2-Q6 |
C |
T |
17: 35,644,820 (GRCm39) |
T203I |
probably null |
Het |
| Inmt |
T |
C |
6: 55,148,012 (GRCm39) |
M206V |
probably benign |
Het |
| Khdc3 |
T |
C |
9: 73,011,301 (GRCm39) |
S360P |
possibly damaging |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Ltbp1 |
T |
G |
17: 75,458,355 (GRCm39) |
V312G |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,270,832 (GRCm39) |
L899P |
probably damaging |
Het |
| Or6c1b |
T |
C |
10: 129,273,287 (GRCm39) |
V202A |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pappa |
A |
G |
4: 65,149,419 (GRCm39) |
I920V |
probably benign |
Het |
| Parp1 |
T |
A |
1: 180,418,877 (GRCm39) |
V679E |
probably damaging |
Het |
| Pla2g4f |
C |
T |
2: 120,131,100 (GRCm39) |
R785Q |
probably damaging |
Het |
| Plbd1 |
T |
A |
6: 136,628,823 (GRCm39) |
I82F |
probably benign |
Het |
| Plekhm3 |
A |
G |
1: 64,976,984 (GRCm39) |
V162A |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,411,274 (GRCm39) |
L919P |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,473,831 (GRCm39) |
|
probably null |
Het |
| Pou3f3 |
C |
A |
1: 42,737,714 (GRCm39) |
T470K |
probably benign |
Het |
| Prss38 |
T |
C |
11: 59,264,325 (GRCm39) |
Y214C |
probably damaging |
Het |
| Retreg1 |
T |
A |
15: 25,968,600 (GRCm39) |
Y109N |
probably damaging |
Het |
| Slco1c1 |
A |
G |
6: 141,500,907 (GRCm39) |
Y413C |
probably damaging |
Het |
| Themis |
T |
C |
10: 28,658,331 (GRCm39) |
F453L |
possibly damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Xpo7 |
G |
A |
14: 70,906,188 (GRCm39) |
T986M |
probably damaging |
Het |
| Zfp51 |
C |
T |
17: 21,684,998 (GRCm39) |
L538F |
probably damaging |
Het |
| Zfy1 |
A |
G |
Y: 726,511 (GRCm39) |
L418S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCAGGCAAGCTACTATGG -3'
(R):5'- AACTGTGTCTGCAGATGGATGC -3'
Sequencing Primer
(F):5'- ACAGACATAAAGGTTTTGATGCAC -3'
(R):5'- TGGATGCAGGAGTGTGGAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation