Incidental Mutation 'R6281:Stk31'
| ID |
507955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk31
|
| Ensembl Gene |
ENSMUSG00000023403 |
| Gene Name |
serine threonine kinase 31 |
| Synonyms |
C330007K24Rik |
| MMRRC Submission |
044451-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6281 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
49372538-49446435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 49446114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 939
(M939R)
|
| 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: M962R
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000024171
Gene: ENSMUSG00000023403
AA Change: M962R
| 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: M939R
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127545
Gene: ENSMUSG00000023403
AA Change: M939R
| 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 |
unknown
Transcript: ENSMUST00000167846
AA Change: M310R
|
| SMART Domains |
Protein: ENSMUSP00000130561
Gene: ENSMUSG00000023403
AA Change: M310R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
105 |
287 |
1e-6 |
PFAM |
|
Pfam:Pkinase
|
184 |
284 |
1.9e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172459
AA Change: M917R
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132896
Gene: ENSMUSG00000023403
AA Change: M917R
| 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 |
0.6352 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (40/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
C |
A |
8: 122,258,620 (GRCm39) |
C166F |
probably damaging |
Het |
| Aida |
C |
T |
1: 183,103,145 (GRCm39) |
A237V |
probably damaging |
Het |
| Ankib1 |
T |
C |
5: 3,751,965 (GRCm39) |
T692A |
possibly damaging |
Het |
| As3mt |
T |
C |
19: 46,713,362 (GRCm39) |
V303A |
possibly damaging |
Het |
| Bhlhe40 |
T |
A |
6: 108,641,423 (GRCm39) |
|
probably null |
Het |
| Bhmt2 |
G |
A |
13: 93,799,668 (GRCm39) |
P256L |
probably damaging |
Het |
| Bpifb1 |
T |
C |
2: 154,048,385 (GRCm39) |
I140T |
probably damaging |
Het |
| Cat |
A |
T |
2: 103,302,114 (GRCm39) |
H194Q |
probably damaging |
Het |
| Cbfa2t3 |
C |
A |
8: 123,360,148 (GRCm39) |
R466L |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,135,044 (GRCm39) |
V279A |
probably damaging |
Het |
| Gabra2 |
T |
C |
5: 71,192,105 (GRCm39) |
T75A |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm3512 |
T |
A |
14: 7,159,254 (GRCm38) |
D7V |
possibly damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,957 (GRCm39) |
F44S |
probably damaging |
Het |
| Ighv1-72 |
C |
A |
12: 115,722,023 (GRCm39) |
C5F |
probably benign |
Het |
| Lilra6 |
A |
G |
7: 3,914,972 (GRCm39) |
L474P |
probably damaging |
Het |
| Mboat2 |
T |
C |
12: 25,007,678 (GRCm39) |
V297A |
probably benign |
Het |
| Muc2 |
C |
G |
7: 141,306,140 (GRCm39) |
C276W |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,264,371 (GRCm39) |
S141G |
possibly damaging |
Het |
| Or4k77 |
T |
C |
2: 111,199,894 (GRCm39) |
*306R |
probably null |
Het |
| Or5p80 |
T |
G |
7: 108,229,609 (GRCm39) |
S137A |
probably benign |
Het |
| Pax5 |
T |
G |
4: 44,691,955 (GRCm39) |
E97A |
probably benign |
Het |
| Pcdhga11 |
A |
T |
18: 37,890,426 (GRCm39) |
D478V |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Phf21b |
G |
T |
15: 84,738,946 (GRCm39) |
D38E |
probably benign |
Het |
| Ptcd1 |
T |
C |
5: 145,101,881 (GRCm39) |
K146R |
probably benign |
Het |
| Rad23a |
A |
T |
8: 85,564,739 (GRCm39) |
M166K |
probably damaging |
Het |
| Rfc4 |
A |
T |
16: 22,936,816 (GRCm39) |
|
probably null |
Het |
| Slc17a3 |
T |
A |
13: 24,040,782 (GRCm39) |
I336N |
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,541,219 (GRCm39) |
M358K |
probably damaging |
Het |
| Tecrl |
T |
A |
5: 83,442,453 (GRCm39) |
T167S |
probably damaging |
Het |
| Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,772,172 (GRCm39) |
V2577M |
probably damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vezt |
G |
A |
10: 93,809,808 (GRCm39) |
R578C |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vwa3b |
T |
A |
1: 37,163,063 (GRCm39) |
L562Q |
probably damaging |
Het |
| Zfyve27 |
T |
A |
19: 42,171,194 (GRCm39) |
N127K |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,805 (GRCm39) |
F373S |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,764,708 (GRCm39) |
V693I |
probably benign |
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 |
|
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'- GAAAACTGATGTTAGCCTATGTCAG -3'
(R):5'- AGTCAAGGGTTGGCTTCACC -3'
Sequencing Primer
(F):5'- GAGTCTCTGTCATTGTCATTACAG -3'
(R):5'- GGCTTCACCATTTCTTGTCTTTTCAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation