Incidental Mutation 'R5751:Stk32a'
| ID |
446024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk32a
|
| Ensembl Gene |
ENSMUSG00000039954 |
| Gene Name |
serine/threonine kinase 32A |
| Synonyms |
A930015B13Rik, YANK1 |
| MMRRC Submission |
043201-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5751 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
43340762-43450546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43438085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 195
(R195W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045477]
|
| AlphaFold |
Q8BGW6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045477
AA Change: R195W
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000038471
Gene: ENSMUSG00000039954
AA Change: R195W
| 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: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,368,893 (GRCm39) |
T1704A |
possibly damaging |
Het |
| Adam6a |
T |
A |
12: 113,508,447 (GRCm39) |
D273E |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,670,355 (GRCm39) |
L1610F |
probably damaging |
Het |
| Ago2 |
C |
T |
15: 73,000,172 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
A |
12: 8,062,619 (GRCm39) |
Y87* |
probably null |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Atp7b |
A |
G |
8: 22,508,144 (GRCm39) |
V599A |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,032,863 (GRCm39) |
I391F |
probably benign |
Het |
| Emc2 |
A |
G |
15: 43,360,453 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
G |
T |
5: 105,229,124 (GRCm39) |
Q508K |
probably benign |
Het |
| Grpel1 |
C |
T |
5: 36,626,811 (GRCm39) |
T31M |
probably benign |
Het |
| Gtf3c4 |
C |
T |
2: 28,717,511 (GRCm39) |
A790T |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,449,305 (GRCm39) |
C115R |
probably damaging |
Het |
| Ik |
G |
A |
18: 36,886,566 (GRCm39) |
R346H |
probably benign |
Het |
| Ldc1 |
A |
C |
4: 130,114,234 (GRCm39) |
V61G |
probably benign |
Het |
| Lhx3 |
A |
G |
2: 26,091,173 (GRCm39) |
S379P |
probably benign |
Het |
| Mocs1 |
A |
G |
17: 49,756,766 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
C |
A |
14: 103,385,986 (GRCm39) |
V3457F |
probably damaging |
Het |
| Or14j7 |
A |
T |
17: 38,234,861 (GRCm39) |
I135L |
probably benign |
Het |
| Or4a2 |
A |
T |
2: 89,248,031 (GRCm39) |
I242N |
probably damaging |
Het |
| Or5an6 |
G |
A |
19: 12,371,780 (GRCm39) |
R51K |
probably benign |
Het |
| Orc5 |
C |
T |
5: 22,704,969 (GRCm39) |
|
probably null |
Het |
| Phf20 |
T |
C |
2: 156,109,261 (GRCm39) |
S203P |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,817,204 (GRCm39) |
S1815G |
possibly damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,871,790 (GRCm39) |
V11A |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,300,086 (GRCm39) |
|
probably null |
Het |
| Ranbp3l |
A |
G |
15: 9,063,169 (GRCm39) |
D326G |
probably damaging |
Het |
| Rsph4a |
C |
T |
10: 33,781,789 (GRCm39) |
A213V |
probably damaging |
Het |
| Sema3b |
A |
G |
9: 107,476,913 (GRCm39) |
S570P |
probably benign |
Het |
| Spata31d1b |
T |
A |
13: 59,866,787 (GRCm39) |
C1312S |
probably benign |
Het |
| Sphkap |
G |
T |
1: 83,253,618 (GRCm39) |
T1377K |
probably benign |
Het |
| Tacr2 |
T |
C |
10: 62,088,769 (GRCm39) |
I58T |
probably damaging |
Het |
| Tmem200c |
A |
T |
17: 69,147,547 (GRCm39) |
K43N |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Uckl1 |
A |
G |
2: 181,216,245 (GRCm39) |
S167P |
possibly damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,954,128 (GRCm39) |
Y764C |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,408,423 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- GCTGTGCACAATCTACCAAAG -3'
(R):5'- TTCCATTCTGAAAGGAACCCG -3'
Sequencing Primer
(F):5'- CCTTTGGAGAAAACGTGTTG -3'
(R):5'- AAAACCCACTTGCTGTGCTGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation