Incidental Mutation 'R8781:Stk31'
| ID |
670243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk31
|
| Ensembl Gene |
ENSMUSG00000023403 |
| Gene Name |
serine threonine kinase 31 |
| Synonyms |
C330007K24Rik |
| MMRRC Submission |
068605-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8781 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
49372538-49446435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 49383709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 92
(D92V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024171]
[ENSMUST00000163954]
[ENSMUST00000172459]
|
| AlphaFold |
Q99MW1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024171
AA Change: D92V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024171
Gene: ENSMUSG00000023403
AA Change: D92V
| Domain | Start | End | E-Value | Type |
|---|
|
TUDOR
|
81 |
135 |
1.34e-8 |
SMART |
|
coiled coil region
|
298 |
345 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
768 |
932 |
4.6e-9 |
PFAM |
|
Pfam:Pkinase
|
794 |
973 |
3.8e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163954
AA Change: D92V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127545
Gene: ENSMUSG00000023403
AA Change: D92V
| Domain | Start | End | E-Value | Type |
|---|
|
TUDOR
|
81 |
135 |
1.34e-8 |
SMART |
|
coiled coil region
|
298 |
345 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
784 |
922 |
7.4e-9 |
PFAM |
|
Pfam:Pkinase
|
794 |
940 |
1.8e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172459
AA Change: D92V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132896
Gene: ENSMUSG00000023403
AA Change: D92V
| Domain | Start | End | E-Value | Type |
|---|
|
TUDOR
|
81 |
135 |
1.34e-8 |
SMART |
|
coiled coil region
|
298 |
345 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
739 |
890 |
5.2e-9 |
PFAM |
|
Pfam:Pkinase
|
749 |
917 |
1.1e-16 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display normal embryonic development and spermatogenesis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted, other(1) Gene trapped(3) |
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
A |
G |
19: 3,767,538 (GRCm39) |
D375G |
possibly damaging |
Het |
| Abi3bp |
C |
T |
16: 56,426,512 (GRCm39) |
T509I |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,723,691 (GRCm39) |
C257S |
probably benign |
Het |
| Ccdc183 |
T |
A |
2: 25,502,208 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
C |
T |
9: 78,543,929 (GRCm39) |
P158S |
probably damaging |
Het |
| Cdh23 |
C |
T |
10: 60,167,567 (GRCm39) |
E1810K |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,883,249 (GRCm39) |
W393R |
probably damaging |
Het |
| Cyth1 |
C |
T |
11: 118,073,069 (GRCm39) |
R277Q |
probably damaging |
Het |
| Ddx54 |
G |
T |
5: 120,751,217 (GRCm39) |
R6L |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,944,078 (GRCm39) |
I1765N |
probably damaging |
Het |
| Erp27 |
G |
A |
6: 136,886,458 (GRCm39) |
Q192* |
probably null |
Het |
| Fam81a |
T |
A |
9: 70,032,381 (GRCm39) |
H37L |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,194,719 (GRCm39) |
S1481P |
possibly damaging |
Het |
| Fbp1 |
T |
G |
13: 63,016,831 (GRCm39) |
I224L |
probably benign |
Het |
| Fhit |
A |
G |
14: 10,421,503 (GRCm38) |
V32A |
probably damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,610,698 (GRCm39) |
H495L |
probably benign |
Het |
| Gas2l3 |
T |
C |
10: 89,266,841 (GRCm39) |
D33G |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,102,738 (GRCm39) |
D1213E |
probably benign |
Het |
| Hsf2bp |
C |
G |
17: 32,252,241 (GRCm39) |
E65Q |
possibly damaging |
Het |
| Kif28 |
G |
T |
1: 179,525,481 (GRCm39) |
T937K |
probably benign |
Het |
| Klf6 |
T |
A |
13: 5,915,071 (GRCm39) |
V170D |
probably benign |
Het |
| Kri1 |
A |
T |
9: 21,191,748 (GRCm39) |
S283T |
|
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Lct |
A |
G |
1: 128,215,261 (GRCm39) |
Y1772H |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,508,958 (GRCm39) |
E1003D |
unknown |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Or2b2b |
A |
G |
13: 21,859,013 (GRCm39) |
S34P |
probably damaging |
Het |
| Or52j3 |
T |
A |
7: 102,836,082 (GRCm39) |
D91E |
probably benign |
Het |
| Or8c14-ps1 |
T |
G |
9: 38,101,385 (GRCm39) |
D121E |
probably damaging |
Het |
| Parg |
T |
A |
14: 31,936,400 (GRCm39) |
D518E |
probably benign |
Het |
| Pcx |
G |
A |
19: 4,670,980 (GRCm39) |
A1095T |
probably damaging |
Het |
| Pde1b |
G |
A |
15: 103,433,727 (GRCm39) |
V342M |
probably damaging |
Het |
| Pik3r2 |
C |
T |
8: 71,222,046 (GRCm39) |
G579D |
possibly damaging |
Het |
| Pknox1 |
G |
A |
17: 31,821,837 (GRCm39) |
|
probably benign |
Het |
| Pla2g3 |
C |
A |
11: 3,438,530 (GRCm39) |
T60K |
probably benign |
Het |
| Ppfia3 |
C |
T |
7: 44,997,953 (GRCm39) |
E725K |
possibly damaging |
Het |
| Ppl |
C |
T |
16: 4,915,800 (GRCm39) |
V588I |
possibly damaging |
Het |
| Sardh |
T |
A |
2: 27,086,715 (GRCm39) |
E815V |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,567,775 (GRCm39) |
E273G |
probably benign |
Het |
| Slc7a8 |
A |
T |
14: 54,996,996 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
G |
A |
11: 86,971,147 (GRCm39) |
P875S |
possibly damaging |
Het |
| Sncaip |
T |
C |
18: 53,039,614 (GRCm39) |
S603P |
probably benign |
Het |
| Speg |
G |
A |
1: 75,383,665 (GRCm39) |
G1218S |
probably damaging |
Het |
| Suco |
A |
G |
1: 161,645,951 (GRCm39) |
V1250A |
probably damaging |
Het |
| Tas2r138 |
A |
G |
6: 40,589,850 (GRCm39) |
V132A |
probably benign |
Het |
| Tcp1 |
T |
C |
17: 13,143,263 (GRCm39) |
I524T |
probably damaging |
Het |
| Tenm3 |
CTGCTGTGAAATG |
C |
8: 48,795,484 (GRCm39) |
|
probably null |
Het |
| Tln2 |
C |
A |
9: 67,163,233 (GRCm39) |
V1105L |
probably damaging |
Het |
| Tmem19 |
T |
C |
10: 115,195,563 (GRCm39) |
|
probably benign |
Het |
| Tmprss4 |
T |
C |
9: 45,087,740 (GRCm39) |
Y283C |
possibly damaging |
Het |
| Trim29 |
T |
A |
9: 43,222,615 (GRCm39) |
V148D |
probably benign |
Het |
| Trip10 |
C |
T |
17: 57,562,313 (GRCm39) |
A277V |
probably benign |
Het |
| Usp12 |
C |
A |
5: 146,700,172 (GRCm39) |
R61L |
probably benign |
Het |
| Vmn1r58 |
T |
G |
7: 5,413,482 (GRCm39) |
L249F |
probably benign |
Het |
| Vmn2r31 |
C |
T |
7: 7,387,400 (GRCm39) |
V724I |
possibly damaging |
Het |
| Vmn2r66 |
C |
T |
7: 84,644,355 (GRCm39) |
W685* |
probably null |
Het |
| Vmn2r8 |
A |
G |
5: 108,945,597 (GRCm39) |
I670T |
possibly damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,305,323 (GRCm39) |
M2K |
possibly damaging |
Het |
| Wdr12 |
A |
G |
1: 60,126,300 (GRCm39) |
W172R |
probably damaging |
Het |
| Yipf5 |
A |
T |
18: 40,340,752 (GRCm39) |
V200E |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,031,801 (GRCm39) |
K713R |
probably damaging |
Het |
| Zfp768 |
A |
G |
7: 126,942,476 (GRCm39) |
S554P |
probably damaging |
Het |
|
| Other mutations in Stk31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Stk31
|
APN |
6 |
49,414,377 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02479:Stk31
|
APN |
6 |
49,398,622 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02490:Stk31
|
APN |
6 |
49,394,469 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03165:Stk31
|
APN |
6 |
49,422,198 (GRCm39) |
missense |
probably damaging |
0.98 |
|
3-1:Stk31
|
UTSW |
6 |
49,394,136 (GRCm39) |
nonsense |
probably null |
|
|
R0016:Stk31
|
UTSW |
6 |
49,414,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0016:Stk31
|
UTSW |
6 |
49,414,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0039:Stk31
|
UTSW |
6 |
49,419,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0616:Stk31
|
UTSW |
6 |
49,400,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0732:Stk31
|
UTSW |
6 |
49,394,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0975:Stk31
|
UTSW |
6 |
49,400,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1127:Stk31
|
UTSW |
6 |
49,386,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1705:Stk31
|
UTSW |
6 |
49,400,318 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1711:Stk31
|
UTSW |
6 |
49,446,238 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1892:Stk31
|
UTSW |
6 |
49,415,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1942:Stk31
|
UTSW |
6 |
49,416,061 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1953:Stk31
|
UTSW |
6 |
49,423,412 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2149:Stk31
|
UTSW |
6 |
49,416,152 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2281:Stk31
|
UTSW |
6 |
49,394,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3438:Stk31
|
UTSW |
6 |
49,414,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4681:Stk31
|
UTSW |
6 |
49,414,369 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5333:Stk31
|
UTSW |
6 |
49,446,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5492:Stk31
|
UTSW |
6 |
49,375,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5782:Stk31
|
UTSW |
6 |
49,446,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5820:Stk31
|
UTSW |
6 |
49,394,219 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5931:Stk31
|
UTSW |
6 |
49,446,236 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6012:Stk31
|
UTSW |
6 |
49,446,243 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6254:Stk31
|
UTSW |
6 |
49,398,631 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6281:Stk31
|
UTSW |
6 |
49,446,114 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6294:Stk31
|
UTSW |
6 |
49,394,278 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6401:Stk31
|
UTSW |
6 |
49,400,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7289:Stk31
|
UTSW |
6 |
49,415,393 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7490:Stk31
|
UTSW |
6 |
49,416,166 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7659:Stk31
|
UTSW |
6 |
49,400,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7757:Stk31
|
UTSW |
6 |
49,383,877 (GRCm39) |
splice site |
probably null |
|
|
R8172:Stk31
|
UTSW |
6 |
49,394,261 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8731:Stk31
|
UTSW |
6 |
49,415,435 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8966:Stk31
|
UTSW |
6 |
49,423,134 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9594:Stk31
|
UTSW |
6 |
49,424,221 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1088:Stk31
|
UTSW |
6 |
49,394,122 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTTCACAGGTGTGTTAGGA -3'
(R):5'- AGGCATCAAGTTTCAGAAGCA -3'
Sequencing Primer
(F):5'- CTTCACAGGTGTGTTAGGAGAAGTAG -3'
(R):5'- CTGAGGACCTGAGTTCAATTCCAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation