Incidental Mutation 'IGL02490:Stk31'
| ID |
295587 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stk31
|
| Ensembl Gene |
ENSMUSG00000023403 |
| Gene Name |
serine threonine kinase 31 |
| Synonyms |
C330007K24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02490
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
49372538-49446435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49394469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 277
(V277A)
|
| 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: V277A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000024171
Gene: ENSMUSG00000023403
AA Change: V277A
| 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: V277A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000127545
Gene: ENSMUSG00000023403
AA Change: V277A
| 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: ENSMUST00000172459
AA Change: V277A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000132896
Gene: ENSMUSG00000023403
AA Change: V277A
| 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 |
|
| Validation Efficiency |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D06Rik |
A |
G |
6: 89,078,559 (GRCm39) |
|
noncoding transcript |
Het |
| Adam5 |
A |
T |
8: 25,271,720 (GRCm39) |
Y562* |
probably null |
Het |
| Akr1d1 |
T |
C |
6: 37,535,423 (GRCm39) |
V269A |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,773,241 (GRCm39) |
T34A |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,226,652 (GRCm39) |
N232S |
probably damaging |
Het |
| Cdc40 |
C |
T |
10: 40,717,767 (GRCm39) |
V379I |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdh13 |
A |
G |
8: 119,822,062 (GRCm39) |
D307G |
probably damaging |
Het |
| Ces1h |
A |
G |
8: 94,083,627 (GRCm39) |
|
probably null |
Het |
| Chchd6 |
T |
A |
6: 89,361,656 (GRCm39) |
H249L |
possibly damaging |
Het |
| Clxn |
T |
A |
16: 14,734,810 (GRCm39) |
V60E |
probably benign |
Het |
| Cul1 |
T |
C |
6: 47,491,820 (GRCm39) |
V392A |
probably damaging |
Het |
| Cwc15 |
A |
T |
9: 14,413,320 (GRCm39) |
D34V |
probably damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,527,446 (GRCm39) |
I264T |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,897,148 (GRCm39) |
D789G |
probably damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,291,635 (GRCm39) |
Y207N |
probably damaging |
Het |
| Flt3 |
T |
A |
5: 147,268,106 (GRCm39) |
N960Y |
probably damaging |
Het |
| Fmn1 |
C |
T |
2: 113,359,817 (GRCm39) |
|
probably benign |
Het |
| Foxm1 |
T |
A |
6: 128,350,314 (GRCm39) |
C400* |
probably null |
Het |
| Ftmt |
A |
C |
18: 52,464,760 (GRCm39) |
R25S |
probably benign |
Het |
| Guca1b |
T |
C |
17: 47,700,190 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,456,676 (GRCm39) |
K680N |
possibly damaging |
Het |
| Hephl1 |
C |
A |
9: 14,964,981 (GRCm39) |
R1138L |
probably benign |
Het |
| Il1rl2 |
T |
A |
1: 40,395,972 (GRCm39) |
|
probably benign |
Het |
| Ints2 |
A |
T |
11: 86,124,009 (GRCm39) |
I593K |
possibly damaging |
Het |
| Iqcg |
T |
A |
16: 32,855,937 (GRCm39) |
K213* |
probably null |
Het |
| Kif1b |
T |
A |
4: 149,288,665 (GRCm39) |
S1259C |
probably benign |
Het |
| Klc1 |
C |
T |
12: 111,748,210 (GRCm39) |
T371M |
possibly damaging |
Het |
| Loxl4 |
T |
C |
19: 42,593,269 (GRCm39) |
T301A |
probably benign |
Het |
| Lrrc40 |
T |
C |
3: 157,768,336 (GRCm39) |
L497P |
probably damaging |
Het |
| Masp2 |
C |
T |
4: 148,692,400 (GRCm39) |
R298W |
possibly damaging |
Het |
| Myo5a |
A |
T |
9: 75,043,737 (GRCm39) |
Y242F |
probably damaging |
Het |
| Nup98 |
A |
G |
7: 101,801,573 (GRCm39) |
V784A |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,299 (GRCm39) |
Y123C |
probably damaging |
Het |
| Osbpl1a |
G |
T |
18: 13,015,341 (GRCm39) |
|
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,334,922 (GRCm39) |
Y412C |
probably damaging |
Het |
| Pfkfb2 |
T |
A |
1: 130,628,589 (GRCm39) |
Y339F |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,550,241 (GRCm39) |
N172D |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,073,463 (GRCm39) |
Y517C |
probably damaging |
Het |
| Plod2 |
G |
T |
9: 92,468,895 (GRCm39) |
A207S |
probably benign |
Het |
| Plxdc1 |
A |
T |
11: 97,845,604 (GRCm39) |
D229E |
probably benign |
Het |
| Ppp3cb |
A |
G |
14: 20,581,726 (GRCm39) |
|
probably null |
Het |
| Procr |
T |
C |
2: 155,595,352 (GRCm39) |
L52P |
probably damaging |
Het |
| Psme2b |
G |
T |
11: 48,836,946 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
G |
A |
15: 36,054,993 (GRCm39) |
A727V |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 16,998,564 (GRCm39) |
W277R |
probably damaging |
Het |
| Rpl26 |
A |
G |
11: 68,795,216 (GRCm39) |
D112G |
probably damaging |
Het |
| Rxfp1 |
C |
A |
3: 79,559,474 (GRCm39) |
|
probably null |
Het |
| Sdr39u1 |
G |
A |
14: 56,135,798 (GRCm39) |
P98L |
probably damaging |
Het |
| Sgms1 |
T |
C |
19: 32,137,543 (GRCm39) |
K8E |
probably damaging |
Het |
| Trav15-1-dv6-1 |
A |
C |
14: 53,797,588 (GRCm39) |
E79A |
probably benign |
Het |
| Ttll6 |
A |
T |
11: 96,047,546 (GRCm39) |
D715V |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,542,561 (GRCm39) |
S3376P |
probably damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,761,246 (GRCm39) |
T704S |
possibly damaging |
Het |
| Zfp27 |
T |
A |
7: 29,594,360 (GRCm39) |
H535L |
possibly damaging |
Het |
| Zfp609 |
A |
T |
9: 65,611,250 (GRCm39) |
V571D |
possibly damaging |
Het |
| Zfp874a |
A |
T |
13: 67,590,819 (GRCm39) |
Y288* |
probably null |
Het |
| Zfp993 |
T |
C |
4: 146,742,074 (GRCm39) |
S133P |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation