Incidental Mutation 'R6695:Stk32c'
| ID |
528540 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk32c
|
| Ensembl Gene |
ENSMUSG00000015981 |
| Gene Name |
serine/threonine kinase 32C |
| Synonyms |
Pkek, YANK3 |
| MMRRC Submission |
044813-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6695 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
138683554-138793223 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 138702880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 53
(V53E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016125]
[ENSMUST00000165870]
|
| AlphaFold |
Q8QZV4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016125
AA Change: V171E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000016125
Gene: ENSMUSG00000015981
AA Change: V171E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
80 |
N/A |
INTRINSIC |
|
S_TKc
|
94 |
354 |
9.16e-82 |
SMART |
|
low complexity region
|
398 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
418 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165870
AA Change: V53E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000126638
Gene: ENSMUSG00000015981
AA Change: V53E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
232 |
1.2e-30 |
PFAM |
|
Pfam:Pkinase
|
1 |
235 |
1.5e-51 |
PFAM |
|
Pfam:Kinase-like
|
12 |
223 |
6.2e-13 |
PFAM |
|
low complexity region
|
280 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
300 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.5846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (45/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd9 |
A |
T |
12: 110,943,497 (GRCm39) |
L179H |
probably benign |
Het |
| Cacna1h |
C |
A |
17: 25,612,714 (GRCm39) |
A370S |
probably damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,876,019 (GRCm39) |
I1053F |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,721,230 (GRCm39) |
V1467A |
probably damaging |
Het |
| Cyp4f15 |
T |
A |
17: 32,911,586 (GRCm39) |
L156* |
probably null |
Het |
| Dmwd |
T |
A |
7: 18,814,652 (GRCm39) |
L434Q |
probably damaging |
Het |
| Dtx4 |
T |
A |
19: 12,450,599 (GRCm39) |
R538* |
probably null |
Het |
| Fcgbp |
T |
A |
7: 27,785,695 (GRCm39) |
C377* |
probably null |
Het |
| Galntl6 |
G |
T |
8: 58,880,804 (GRCm39) |
H116Q |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,391,148 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
G |
8: 111,053,092 (GRCm39) |
S255A |
probably benign |
Het |
| Knstrn |
G |
A |
2: 118,644,723 (GRCm39) |
A48T |
probably damaging |
Het |
| Lonrf2 |
T |
C |
1: 38,852,470 (GRCm39) |
D127G |
probably benign |
Het |
| Luzp1 |
T |
C |
4: 136,272,609 (GRCm39) |
S12P |
possibly damaging |
Het |
| Man2c1 |
A |
T |
9: 57,048,875 (GRCm39) |
H822L |
probably benign |
Het |
| Map3k13 |
G |
T |
16: 21,741,028 (GRCm39) |
G785V |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,219,366 (GRCm39) |
H454R |
probably damaging |
Het |
| Mib2 |
G |
A |
4: 155,745,629 (GRCm39) |
R61C |
probably damaging |
Het |
| Muc15 |
A |
T |
2: 110,561,616 (GRCm39) |
L17F |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,114,652 (GRCm39) |
I879V |
probably benign |
Het |
| Nomo1 |
T |
A |
7: 45,715,885 (GRCm39) |
S751T |
probably benign |
Het |
| Or1j10 |
A |
T |
2: 36,267,117 (GRCm39) |
S110C |
probably benign |
Het |
| Or5b24 |
A |
T |
19: 12,912,764 (GRCm39) |
I221L |
possibly damaging |
Het |
| Or5g27 |
A |
G |
2: 85,409,793 (GRCm39) |
D70G |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,256 (GRCm39) |
N412S |
probably benign |
Het |
| Plk5 |
T |
C |
10: 80,196,035 (GRCm39) |
S235P |
probably benign |
Het |
| Ppm1j |
A |
G |
3: 104,692,802 (GRCm39) |
D437G |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,633,262 (GRCm39) |
E1148G |
probably damaging |
Het |
| Rad9b |
T |
C |
5: 122,489,754 (GRCm39) |
N43S |
probably damaging |
Het |
| Rc3h2 |
A |
C |
2: 37,304,673 (GRCm39) |
I29S |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Spdl1 |
T |
A |
11: 34,713,830 (GRCm39) |
|
probably null |
Het |
| Spta1 |
A |
T |
1: 174,071,608 (GRCm39) |
|
probably null |
Het |
| Strc |
A |
T |
2: 121,207,705 (GRCm39) |
F555L |
probably benign |
Het |
| Sugct |
T |
G |
13: 17,497,815 (GRCm39) |
N286T |
possibly damaging |
Het |
| Swsap1 |
A |
T |
9: 21,867,971 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
T |
A |
17: 14,894,426 (GRCm39) |
D807V |
possibly damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,763,974 (GRCm39) |
D492G |
probably damaging |
Het |
| Tonsl |
A |
T |
15: 76,514,018 (GRCm39) |
S1184T |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 44,022,436 (GRCm39) |
Y945N |
probably benign |
Het |
| Usp54 |
G |
T |
14: 20,610,937 (GRCm39) |
A1293D |
possibly damaging |
Het |
| Vps52 |
A |
T |
17: 34,182,173 (GRCm39) |
K516* |
probably null |
Het |
| Zbtb17 |
T |
A |
4: 141,189,110 (GRCm39) |
V10D |
probably damaging |
Het |
| Zfp607b |
T |
C |
7: 27,403,464 (GRCm39) |
V640A |
probably benign |
Het |
|
| Other mutations in Stk32c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02003:Stk32c
|
APN |
7 |
138,768,069 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02559:Stk32c
|
APN |
7 |
138,700,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02805:Stk32c
|
APN |
7 |
138,701,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0531:Stk32c
|
UTSW |
7 |
138,700,636 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0622:Stk32c
|
UTSW |
7 |
138,768,026 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1140:Stk32c
|
UTSW |
7 |
138,705,095 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1473:Stk32c
|
UTSW |
7 |
138,705,095 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1589:Stk32c
|
UTSW |
7 |
138,698,931 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1697:Stk32c
|
UTSW |
7 |
138,701,740 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1855:Stk32c
|
UTSW |
7 |
138,701,363 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4290:Stk32c
|
UTSW |
7 |
138,700,704 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4293:Stk32c
|
UTSW |
7 |
138,700,704 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4295:Stk32c
|
UTSW |
7 |
138,700,704 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5323:Stk32c
|
UTSW |
7 |
138,699,276 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5854:Stk32c
|
UTSW |
7 |
138,768,195 (GRCm39) |
intron |
probably benign |
|
|
R5907:Stk32c
|
UTSW |
7 |
138,700,590 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6115:Stk32c
|
UTSW |
7 |
138,700,628 (GRCm39) |
nonsense |
probably null |
|
|
R6117:Stk32c
|
UTSW |
7 |
138,702,839 (GRCm39) |
nonsense |
probably null |
|
|
R6176:Stk32c
|
UTSW |
7 |
138,700,691 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6460:Stk32c
|
UTSW |
7 |
138,685,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6745:Stk32c
|
UTSW |
7 |
138,702,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7177:Stk32c
|
UTSW |
7 |
138,684,218 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7676:Stk32c
|
UTSW |
7 |
138,685,220 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7721:Stk32c
|
UTSW |
7 |
138,768,069 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8977:Stk32c
|
UTSW |
7 |
138,705,161 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9004:Stk32c
|
UTSW |
7 |
138,702,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9117:Stk32c
|
UTSW |
7 |
138,768,141 (GRCm39) |
missense |
unknown |
|
|
R9481:Stk32c
|
UTSW |
7 |
138,768,173 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAAGATGCCTCATGCCAC -3'
(R):5'- TTGTCACTTACAGGCATCTATGC -3'
Sequencing Primer
(F):5'- TGCCACAGGTGTTCACAC -3'
(R):5'- AACCGCTCTCATGGACATGG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation