Incidental Mutation 'R5555:Stk40'
| ID |
435327 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk40
|
| Ensembl Gene |
ENSMUSG00000042608 |
| Gene Name |
serine/threonine kinase 40 |
| Synonyms |
2310004N11Rik |
| MMRRC Submission |
043112-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5555 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
125997750-126034822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126028852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 238
(V238E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094761]
[ENSMUST00000116286]
|
| AlphaFold |
Q7TNL3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094761
AA Change: V224E
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092354
Gene: ENSMUSG00000042608
AA Change: V224E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
36 |
328 |
5.6e-39 |
PFAM |
|
Pfam:Pkinase_Tyr
|
36 |
328 |
2.4e-20 |
PFAM |
|
Pfam:Kinase-like
|
116 |
318 |
2e-8 |
PFAM |
|
low complexity region
|
350 |
362 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116286
AA Change: V238E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111990
Gene: ENSMUSG00000042608
AA Change: V238E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
51 |
342 |
1.9e-19 |
PFAM |
|
Pfam:Pkinase
|
52 |
342 |
9.2e-37 |
PFAM |
|
Pfam:Kinase-like
|
130 |
332 |
1.7e-8 |
PFAM |
|
low complexity region
|
364 |
376 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134369
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete neonatal lethality associated with cyanosis, atelectasis, respiratory distress and impaired lung maturation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg7 |
T |
C |
6: 114,679,014 (GRCm39) |
V366A |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,581,702 (GRCm39) |
V192E |
probably damaging |
Het |
| Chil6 |
C |
T |
3: 106,297,268 (GRCm39) |
S291N |
possibly damaging |
Het |
| D7Ertd443e |
T |
C |
7: 133,951,320 (GRCm39) |
T118A |
probably benign |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,012,776 (GRCm39) |
T1837S |
probably damaging |
Het |
| Elapor2 |
T |
A |
5: 9,472,296 (GRCm39) |
|
probably null |
Het |
| Ext1 |
A |
G |
15: 52,951,539 (GRCm39) |
V515A |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,890,109 (GRCm39) |
E272G |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,825,236 (GRCm39) |
H1475Q |
probably benign |
Het |
| Grid1 |
T |
C |
14: 35,242,662 (GRCm39) |
S672P |
possibly damaging |
Het |
| Gtpbp4 |
A |
G |
13: 9,029,463 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
A |
T |
12: 110,659,168 (GRCm39) |
V543E |
probably damaging |
Het |
| Irf5 |
T |
C |
6: 29,531,145 (GRCm39) |
S4P |
probably benign |
Het |
| Kif2b |
G |
T |
11: 91,466,286 (GRCm39) |
Q666K |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,414,110 (GRCm39) |
H762L |
probably benign |
Het |
| Map1s |
C |
T |
8: 71,369,751 (GRCm39) |
T941M |
probably damaging |
Het |
| Mrgprb1 |
T |
A |
7: 48,097,523 (GRCm39) |
I130F |
probably benign |
Het |
| Nbeal1 |
T |
G |
1: 60,276,311 (GRCm39) |
V684G |
possibly damaging |
Het |
| Ngly1 |
C |
T |
14: 16,270,508 (GRCm38) |
Q173* |
probably null |
Het |
| Plcb3 |
A |
T |
19: 6,943,587 (GRCm39) |
M104K |
probably benign |
Het |
| Plcg2 |
T |
A |
8: 118,339,734 (GRCm39) |
Y1048* |
probably null |
Het |
| Ptprf |
T |
C |
4: 118,082,121 (GRCm39) |
Y1039C |
probably damaging |
Het |
| Rab38 |
A |
G |
7: 88,079,695 (GRCm39) |
Y29C |
probably damaging |
Het |
| Rcan2 |
T |
A |
17: 44,347,921 (GRCm39) |
V210E |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,304,008 (GRCm39) |
Q447L |
probably benign |
Het |
| Scel |
G |
A |
14: 103,839,642 (GRCm39) |
R495K |
probably benign |
Het |
| Scn11a |
G |
T |
9: 119,584,304 (GRCm39) |
P1437Q |
probably damaging |
Het |
| Sim2 |
A |
G |
16: 93,910,315 (GRCm39) |
D239G |
probably damaging |
Het |
| Skap2 |
A |
G |
6: 51,836,998 (GRCm39) |
Y356H |
probably damaging |
Het |
| Skint11 |
A |
G |
4: 114,051,798 (GRCm39) |
T49A |
probably benign |
Het |
| Snx33 |
G |
A |
9: 56,832,681 (GRCm39) |
H463Y |
probably benign |
Het |
| Steap2 |
T |
C |
5: 5,727,544 (GRCm39) |
T264A |
possibly damaging |
Het |
| Sun2 |
T |
C |
15: 79,618,328 (GRCm39) |
D277G |
probably benign |
Het |
| Ttll9 |
T |
C |
2: 152,832,020 (GRCm39) |
|
probably null |
Het |
| Vmn1r54 |
G |
A |
6: 90,246,347 (GRCm39) |
C87Y |
probably benign |
Het |
|
| Other mutations in Stk40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02343:Stk40
|
APN |
4 |
126,030,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03081:Stk40
|
APN |
4 |
126,017,507 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03273:Stk40
|
APN |
4 |
126,017,599 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0562:Stk40
|
UTSW |
4 |
126,032,594 (GRCm39) |
splice site |
probably benign |
|
|
R0639:Stk40
|
UTSW |
4 |
126,012,125 (GRCm39) |
nonsense |
probably null |
|
|
R1432:Stk40
|
UTSW |
4 |
126,030,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Stk40
|
UTSW |
4 |
126,019,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Stk40
|
UTSW |
4 |
126,019,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2119:Stk40
|
UTSW |
4 |
126,022,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2120:Stk40
|
UTSW |
4 |
126,022,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2122:Stk40
|
UTSW |
4 |
126,022,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4498:Stk40
|
UTSW |
4 |
126,023,544 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5964:Stk40
|
UTSW |
4 |
126,022,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6868:Stk40
|
UTSW |
4 |
126,017,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6902:Stk40
|
UTSW |
4 |
126,031,605 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7207:Stk40
|
UTSW |
4 |
126,019,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7227:Stk40
|
UTSW |
4 |
126,017,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7304:Stk40
|
UTSW |
4 |
126,019,483 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7996:Stk40
|
UTSW |
4 |
126,030,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Stk40
|
UTSW |
4 |
126,022,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8444:Stk40
|
UTSW |
4 |
126,012,127 (GRCm39) |
missense |
probably benign |
|
|
R8453:Stk40
|
UTSW |
4 |
126,022,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9612:Stk40
|
UTSW |
4 |
126,030,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCTCTCCTAAACAGAGG -3'
(R):5'- TAACCTGATGTGGGCATGTG -3'
Sequencing Primer
(F):5'- GCCTGTTTACAAGAATAGGAGGCTG -3'
(R):5'- CACTAGACCAGAGATCTTGTTCAGG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation