Incidental Mutation 'IGL02343:Stk40'
| ID |
289184 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stk40
|
| Ensembl Gene |
ENSMUSG00000042608 |
| Gene Name |
serine/threonine kinase 40 |
| Synonyms |
2310004N11Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02343
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
125997750-126034822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126030695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 305
(Y305C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094761]
[ENSMUST00000116286]
|
| AlphaFold |
Q7TNL3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094761
AA Change: Y291C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092354
Gene: ENSMUSG00000042608
AA Change: Y291C
| 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: Y305C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111990
Gene: ENSMUSG00000042608
AA Change: Y305C
| 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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd5 |
T |
A |
2: 22,977,507 (GRCm39) |
N168K |
possibly damaging |
Het |
| Aig1 |
T |
C |
10: 13,744,418 (GRCm39) |
M29V |
probably damaging |
Het |
| Albfm1 |
C |
A |
5: 90,727,473 (GRCm39) |
H364N |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,344,894 (GRCm39) |
E28G |
probably damaging |
Het |
| Bglap3 |
T |
C |
3: 88,276,423 (GRCm39) |
N45S |
possibly damaging |
Het |
| Cables2 |
A |
G |
2: 179,902,072 (GRCm39) |
|
probably null |
Het |
| Cd109 |
A |
G |
9: 78,596,237 (GRCm39) |
|
probably benign |
Het |
| Cdk1 |
T |
C |
10: 69,176,331 (GRCm39) |
N259D |
probably benign |
Het |
| Ces1h |
A |
G |
8: 94,078,654 (GRCm39) |
*563R |
probably null |
Het |
| Cfap46 |
C |
T |
7: 139,262,425 (GRCm39) |
A115T |
probably damaging |
Het |
| Cry2 |
A |
T |
2: 92,257,266 (GRCm39) |
V101E |
possibly damaging |
Het |
| Cyp4a31 |
A |
G |
4: 115,421,026 (GRCm39) |
Y38C |
probably damaging |
Het |
| Dip2a |
T |
C |
10: 76,155,312 (GRCm39) |
Y130C |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,475,123 (GRCm39) |
T366A |
probably benign |
Het |
| Esr2 |
C |
T |
12: 76,192,119 (GRCm39) |
R303H |
probably benign |
Het |
| Fbxo41 |
T |
G |
6: 85,455,153 (GRCm39) |
L617F |
possibly damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,381,723 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 103,070,024 (GRCm39) |
|
probably benign |
Het |
| Me1 |
A |
T |
9: 86,536,694 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
G |
A |
10: 24,155,762 (GRCm39) |
V289I |
probably damaging |
Het |
| Muc19 |
T |
G |
15: 91,778,428 (GRCm39) |
|
noncoding transcript |
Het |
| Myo15b |
A |
G |
11: 115,764,226 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,382,490 (GRCm39) |
L1264* |
probably null |
Het |
| Nhlrc4 |
T |
C |
17: 26,162,335 (GRCm39) |
*137W |
probably null |
Het |
| Nrxn3 |
A |
G |
12: 88,762,123 (GRCm39) |
T57A |
probably damaging |
Het |
| Or10g3 |
T |
A |
14: 52,609,934 (GRCm39) |
D192V |
probably damaging |
Het |
| Orc2 |
A |
T |
1: 58,508,825 (GRCm39) |
|
probably null |
Het |
| Rpap2 |
G |
A |
5: 107,766,047 (GRCm39) |
|
probably null |
Het |
| S100a9 |
T |
C |
3: 90,602,531 (GRCm39) |
H21R |
probably damaging |
Het |
| Spz1 |
T |
A |
13: 92,712,054 (GRCm39) |
M141L |
probably benign |
Het |
| Stra6l |
A |
G |
4: 45,869,588 (GRCm39) |
Q218R |
probably damaging |
Het |
| T |
C |
A |
17: 8,658,732 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,066,704 (GRCm39) |
D2298G |
probably damaging |
Het |
| Trim40 |
A |
T |
17: 37,200,030 (GRCm39) |
L16Q |
probably benign |
Het |
| Tubb4a |
T |
C |
17: 57,388,538 (GRCm39) |
I163V |
probably benign |
Het |
| Vwc2 |
T |
A |
11: 11,066,532 (GRCm39) |
C207S |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,227,849 (GRCm39) |
I1920T |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,538,844 (GRCm39) |
E200G |
probably damaging |
Het |
| Zfp451 |
C |
T |
1: 33,815,574 (GRCm39) |
C792Y |
probably damaging |
Het |
|
| Other mutations in Stk40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R5555:Stk40
|
UTSW |
4 |
126,028,852 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation