Incidental Mutation 'R3438:Stk31'
| ID |
267277 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk31
|
| Ensembl Gene |
ENSMUSG00000023403 |
| Gene Name |
serine threonine kinase 31 |
| Synonyms |
C330007K24Rik |
| MMRRC Submission |
040656-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3438 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
49372538-49446435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49414455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 485
(S485G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024171]
[ENSMUST00000163954]
[ENSMUST00000172459]
|
| AlphaFold |
Q99MW1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024171
AA Change: S530G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000024171
Gene: ENSMUSG00000023403
AA Change: S530G
| 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 benign
Transcript: ENSMUST00000163954
AA Change: S530G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127545
Gene: ENSMUSG00000023403
AA Change: S530G
| 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 benign
Transcript: ENSMUST00000167846
|
| SMART Domains |
Protein: ENSMUSP00000130561
Gene: ENSMUSG00000023403
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
105 |
287 |
1e-6 |
PFAM |
|
Pfam:Pkinase
|
184 |
284 |
1.9e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172459
AA Change: S485G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132896
Gene: ENSMUSG00000023403
AA Change: S485G
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (37/38) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017G19Rik |
A |
G |
3: 40,575,673 (GRCm39) |
|
noncoding transcript |
Het |
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Ampd3 |
T |
C |
7: 110,402,433 (GRCm39) |
I479T |
probably damaging |
Het |
| Aoah |
G |
A |
13: 21,101,242 (GRCm39) |
R254K |
probably benign |
Het |
| Appbp2 |
T |
C |
11: 85,088,966 (GRCm39) |
E358G |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,752,991 (GRCm39) |
S2294P |
possibly damaging |
Het |
| Cux1 |
T |
C |
5: 136,340,414 (GRCm39) |
E632G |
probably damaging |
Het |
| Cyp7a1 |
T |
C |
4: 6,272,769 (GRCm39) |
N148S |
probably damaging |
Het |
| Dgkz |
A |
T |
2: 91,764,395 (GRCm39) |
|
probably benign |
Het |
| Dlgap1 |
A |
T |
17: 70,823,356 (GRCm39) |
S114C |
probably damaging |
Het |
| Dmtn |
T |
A |
14: 70,850,156 (GRCm39) |
I263F |
probably damaging |
Het |
| Gigyf2 |
C |
A |
1: 87,368,302 (GRCm39) |
H1029N |
probably damaging |
Het |
| Gm10770 |
T |
A |
2: 150,021,469 (GRCm39) |
|
probably null |
Het |
| Gnb1l |
A |
G |
16: 18,371,117 (GRCm39) |
T203A |
probably benign |
Het |
| Kng2 |
T |
C |
16: 22,830,821 (GRCm39) |
I163V |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,102,161 (GRCm39) |
D1479G |
probably benign |
Het |
| Larp7-ps |
A |
C |
4: 92,079,919 (GRCm39) |
V23G |
possibly damaging |
Het |
| Lhx4 |
T |
A |
1: 155,578,230 (GRCm39) |
D304V |
probably benign |
Het |
| Mybl1 |
G |
T |
1: 9,757,870 (GRCm39) |
T143K |
probably damaging |
Het |
| Notch3 |
C |
T |
17: 32,372,564 (GRCm39) |
C630Y |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,933,475 (GRCm39) |
E30G |
probably damaging |
Het |
| Or4c114 |
T |
C |
2: 88,904,707 (GRCm39) |
I243V |
probably benign |
Het |
| Or8b55 |
T |
G |
9: 38,727,512 (GRCm39) |
F238V |
probably damaging |
Het |
| Or9e1 |
G |
T |
11: 58,732,698 (GRCm39) |
G253* |
probably null |
Het |
| Otoa |
A |
G |
7: 120,759,566 (GRCm39) |
E1056G |
possibly damaging |
Het |
| Plin4 |
A |
G |
17: 56,414,193 (GRCm39) |
V144A |
probably benign |
Het |
| Sec16b |
T |
C |
1: 157,384,328 (GRCm39) |
|
probably benign |
Het |
| Tanc2 |
C |
T |
11: 105,748,401 (GRCm39) |
P511L |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,357,062 (GRCm39) |
D309G |
probably damaging |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
| Vsx2 |
A |
T |
12: 84,616,985 (GRCm39) |
Q90L |
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 |
|
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'- CCTAACATTGTCTTTAGGACTTAGC -3'
(R):5'- ACTGGTGGTTAAGGCAAGTAGC -3'
Sequencing Primer
(F):5'- GCAACTTCTTTAGAATCAGTGTATGG -3'
(R):5'- ACAAAACCAACAATCTAACTCACTAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation