Incidental Mutation 'R1705:Stk31'
ID |
190014 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stk31
|
Ensembl Gene |
ENSMUSG00000023403 |
Gene Name |
serine threonine kinase 31 |
Synonyms |
C330007K24Rik |
MMRRC Submission |
039738-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1705 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
49372538-49446435 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 49400318 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 381
(N381I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127545
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024171]
[ENSMUST00000163954]
[ENSMUST00000172459]
|
AlphaFold |
Q99MW1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024171
AA Change: N381I
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000024171 Gene: ENSMUSG00000023403 AA Change: N381I
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 |
possibly damaging
Transcript: ENSMUST00000163954
AA Change: N381I
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000127545 Gene: ENSMUSG00000023403 AA Change: N381I
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 |
noncoding transcript
Transcript: ENSMUST00000172394
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172459
AA Change: N381I
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132896 Gene: ENSMUSG00000023403 AA Change: N381I
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
90% (43/48) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Apaf1 |
A |
G |
10: 90,903,133 (GRCm39) |
|
probably benign |
Het |
C1ql2 |
A |
G |
1: 120,270,271 (GRCm39) |
T278A |
probably damaging |
Het |
Card14 |
A |
G |
11: 119,229,232 (GRCm39) |
H714R |
possibly damaging |
Het |
Catsperd |
T |
C |
17: 56,940,521 (GRCm39) |
F69S |
probably damaging |
Het |
Cep250 |
A |
G |
2: 155,805,706 (GRCm39) |
E105G |
probably damaging |
Het |
Coil |
A |
G |
11: 88,864,962 (GRCm39) |
Y63C |
probably damaging |
Het |
Cox14 |
A |
G |
15: 99,625,559 (GRCm39) |
|
probably null |
Het |
Defa24 |
T |
C |
8: 22,224,617 (GRCm39) |
I22T |
probably damaging |
Het |
F5 |
T |
C |
1: 164,045,059 (GRCm39) |
Y2116H |
possibly damaging |
Het |
Faf1 |
C |
T |
4: 109,534,199 (GRCm39) |
|
probably benign |
Het |
Hectd4 |
A |
G |
5: 121,436,167 (GRCm39) |
S1026G |
probably benign |
Het |
Hgf |
A |
T |
5: 16,820,800 (GRCm39) |
H649L |
probably benign |
Het |
Hmces |
T |
C |
6: 87,910,283 (GRCm39) |
V231A |
probably damaging |
Het |
Kcnh4 |
A |
G |
11: 100,632,598 (GRCm39) |
V963A |
probably benign |
Het |
Ltbp1 |
T |
C |
17: 75,692,196 (GRCm39) |
|
probably null |
Het |
Meox2 |
G |
A |
12: 37,217,493 (GRCm39) |
|
probably benign |
Het |
Mis18bp1 |
A |
C |
12: 65,196,113 (GRCm39) |
S550R |
probably benign |
Het |
Nap1l4 |
A |
T |
7: 143,095,497 (GRCm39) |
M1K |
probably null |
Het |
Nav1 |
G |
T |
1: 135,512,337 (GRCm39) |
T241N |
probably damaging |
Het |
Nbeal2 |
A |
G |
9: 110,454,264 (GRCm39) |
W2694R |
probably damaging |
Het |
Or11g2 |
A |
T |
14: 50,856,579 (GRCm39) |
H300L |
probably benign |
Het |
Or2b6 |
C |
A |
13: 21,823,331 (GRCm39) |
D121Y |
probably damaging |
Het |
Or4c52 |
A |
T |
2: 89,845,855 (GRCm39) |
I194F |
possibly damaging |
Het |
Phaf1 |
T |
C |
8: 105,965,104 (GRCm39) |
|
probably benign |
Het |
Pld1 |
G |
A |
3: 28,125,426 (GRCm39) |
|
probably null |
Het |
Podn |
T |
C |
4: 107,875,055 (GRCm39) |
R164G |
probably benign |
Het |
Qrfprl |
A |
T |
6: 65,433,290 (GRCm39) |
H370L |
probably benign |
Het |
R3hdm1 |
T |
A |
1: 128,162,821 (GRCm39) |
L966Q |
probably damaging |
Het |
Rasef |
A |
T |
4: 73,662,301 (GRCm39) |
Y369* |
probably null |
Het |
Ryr1 |
A |
T |
7: 28,777,989 (GRCm39) |
V2176E |
probably damaging |
Het |
Sec14l2 |
A |
G |
11: 4,053,980 (GRCm39) |
L229P |
possibly damaging |
Het |
Sec23a |
T |
C |
12: 59,048,652 (GRCm39) |
S157G |
possibly damaging |
Het |
Slit2 |
T |
A |
5: 48,346,814 (GRCm39) |
W219R |
probably damaging |
Het |
Smarcad1 |
G |
A |
6: 65,033,400 (GRCm39) |
E128K |
probably damaging |
Het |
Svop |
A |
G |
5: 114,180,356 (GRCm39) |
Y264H |
probably damaging |
Het |
Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,607,066 (GRCm39) |
I3987N |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,643,738 (GRCm39) |
S4367T |
probably benign |
Het |
Vdr |
A |
T |
15: 97,765,052 (GRCm39) |
V229D |
probably damaging |
Het |
Ywhaz |
G |
T |
15: 36,790,959 (GRCm39) |
T88K |
possibly damaging |
Het |
Zc3h10 |
A |
T |
10: 128,380,672 (GRCm39) |
C228* |
probably null |
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 |
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 |
R8781:Stk31
|
UTSW |
6 |
49,383,709 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ggttcactgtgtctgactAATGGCAA -3'
(R):5'- caccacacccggctAACATAGAAAA -3'
Sequencing Primer
(F):5'- gagacactatgacaaaggcaac -3'
(R):5'- cccggctAACATAGAAAATTCTTAAC -3'
|
Posted On |
2014-05-14 |