Incidental Mutation 'R4207:Stk39'
| ID |
318952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk39
|
| Ensembl Gene |
ENSMUSG00000027030 |
| Gene Name |
serine/threonine kinase 39 |
| Synonyms |
SPAK, DCHT, Rnl5, RF005 |
| MMRRC Submission |
041036-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.506)
|
| Stock # |
R4207 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
68040789-68302381 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 68051264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 527
(T527K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102715]
|
| AlphaFold |
Q9Z1W9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102715
AA Change: T527K
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099776
Gene: ENSMUSG00000027030
AA Change: T527K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
65 |
N/A |
INTRINSIC |
|
S_TKc
|
75 |
349 |
4.44e-80 |
SMART |
|
Pfam:OSR1_C
|
463 |
494 |
1.3e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126663
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130380
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139407
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144457
|
| Meta Mutation Damage Score |
0.0809 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine kinase that is thought to function in the cellular stress response pathway. The kinase is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled cotransporters. The catalytically active kinase specifically activates the p38 MAP kinase pathway, and its interaction with p38 decreases upon cellular stress, suggesting that this kinase may serve as an intermediate in the response to cellular stress. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced bumetanide-sensitive thallium, a potassium tracer, uptake in dorsal root ganglion neurons and reduced fertility. Mice with an ENU mutation in intron 8 exhibit elevated albumin-creatinine (ACR) ratios. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,872,551 (GRCm39) |
Q17* |
probably null |
Het |
| Acap2 |
T |
A |
16: 30,938,245 (GRCm39) |
N293I |
probably damaging |
Het |
| Adgrg4 |
G |
A |
X: 55,964,109 (GRCm39) |
V1893I |
possibly damaging |
Het |
| Aff1 |
T |
C |
5: 103,966,854 (GRCm39) |
|
probably null |
Het |
| Ap1b1 |
A |
G |
11: 4,981,637 (GRCm39) |
D515G |
probably damaging |
Het |
| Brk1 |
T |
C |
6: 113,592,805 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Cand1 |
T |
C |
10: 119,047,750 (GRCm39) |
D580G |
probably damaging |
Het |
| Casp4 |
A |
G |
9: 5,328,451 (GRCm39) |
D311G |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ctnnd2 |
G |
T |
15: 30,972,973 (GRCm39) |
V1033F |
probably damaging |
Het |
| Dhx29 |
G |
T |
13: 113,064,483 (GRCm39) |
A53S |
probably benign |
Het |
| Dis3 |
T |
G |
14: 99,332,752 (GRCm39) |
I227L |
probably benign |
Het |
| Efhc2 |
T |
C |
X: 17,096,789 (GRCm39) |
N186S |
possibly damaging |
Het |
| Efl1 |
T |
C |
7: 82,400,024 (GRCm39) |
V592A |
probably damaging |
Het |
| Elovl7 |
A |
T |
13: 108,419,040 (GRCm39) |
Q224L |
possibly damaging |
Het |
| Fcgr3 |
T |
A |
1: 170,881,644 (GRCm39) |
K160N |
probably benign |
Het |
| Flg |
A |
G |
3: 93,187,169 (GRCm39) |
Y207C |
probably benign |
Het |
| Fmn2 |
A |
G |
1: 174,409,521 (GRCm39) |
T585A |
unknown |
Het |
| Gm7135 |
T |
C |
1: 97,397,620 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8104 |
G |
T |
14: 42,959,091 (GRCm39) |
D94Y |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
| Kbtbd4 |
T |
C |
2: 90,740,099 (GRCm39) |
F495L |
probably damaging |
Het |
| Lingo2 |
T |
C |
4: 35,709,810 (GRCm39) |
I57V |
probably benign |
Het |
| Me2 |
T |
C |
18: 73,924,156 (GRCm39) |
K352R |
probably benign |
Het |
| Mthfsd |
A |
G |
8: 121,832,365 (GRCm39) |
V133A |
probably damaging |
Het |
| Nav2 |
T |
A |
7: 49,246,979 (GRCm39) |
I2168N |
probably damaging |
Het |
| Nav2 |
T |
A |
7: 49,222,046 (GRCm39) |
|
probably null |
Het |
| Nlrp10 |
T |
A |
7: 108,523,548 (GRCm39) |
D644V |
possibly damaging |
Het |
| Oplah |
C |
T |
15: 76,186,910 (GRCm39) |
R635H |
probably damaging |
Het |
| Or10n1 |
A |
G |
9: 39,525,253 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Or2c1 |
T |
C |
16: 3,657,434 (GRCm39) |
L199P |
probably damaging |
Het |
| Or5b117 |
T |
C |
19: 13,431,835 (GRCm39) |
I15M |
probably benign |
Het |
| Peli1 |
A |
G |
11: 21,097,115 (GRCm39) |
|
probably null |
Het |
| Pfkfb1 |
A |
T |
X: 149,405,184 (GRCm39) |
D208V |
possibly damaging |
Het |
| Pld5 |
T |
G |
1: 175,821,441 (GRCm39) |
T242P |
probably damaging |
Het |
| Rbm5 |
A |
G |
9: 107,627,682 (GRCm39) |
S420P |
probably benign |
Het |
| Rhag |
A |
T |
17: 41,142,544 (GRCm39) |
I250F |
probably damaging |
Het |
| Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
| Scaf4 |
C |
T |
16: 90,057,103 (GRCm39) |
V83I |
unknown |
Het |
| Slc24a2 |
A |
G |
4: 87,145,442 (GRCm39) |
V204A |
probably damaging |
Het |
| Slc5a8 |
G |
T |
10: 88,747,275 (GRCm39) |
L409F |
probably damaging |
Het |
| Spns3 |
A |
T |
11: 72,429,187 (GRCm39) |
V199E |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,455,227 (GRCm39) |
T3030A |
probably benign |
Het |
| Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
| Sult2a1 |
T |
A |
7: 13,535,472 (GRCm39) |
T194S |
probably benign |
Het |
| Tamm41 |
AGGG |
AGG |
6: 114,989,320 (GRCm39) |
|
probably benign |
Het |
| Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
| Umodl1 |
G |
A |
17: 31,178,341 (GRCm39) |
V106I |
probably damaging |
Het |
| Vmn2r85 |
A |
C |
10: 130,254,574 (GRCm39) |
C703W |
probably damaging |
Het |
| Vmn2r92 |
G |
A |
17: 18,404,523 (GRCm39) |
V556M |
possibly damaging |
Het |
| Zfp292 |
T |
C |
4: 34,806,079 (GRCm39) |
I2322V |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,766,142 (GRCm39) |
E93G |
probably damaging |
Het |
| Zfp81 |
C |
T |
17: 33,553,890 (GRCm39) |
C308Y |
probably damaging |
Het |
|
| Other mutations in Stk39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00946:Stk39
|
APN |
2 |
68,144,908 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL00966:Stk39
|
APN |
2 |
68,042,302 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01936:Stk39
|
APN |
2 |
68,144,908 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02301:Stk39
|
APN |
2 |
68,042,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02940:Stk39
|
APN |
2 |
68,051,243 (GRCm39) |
splice site |
probably null |
|
|
claimjumper
|
UTSW |
2 |
68,144,923 (GRCm39) |
missense |
probably damaging |
0.96 |
|
outlaw
|
UTSW |
2 |
68,137,383 (GRCm39) |
critical splice donor site |
probably null |
|
|
rustler
|
UTSW |
2 |
68,093,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0570:Stk39
|
UTSW |
2 |
68,240,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Stk39
|
UTSW |
2 |
68,196,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0670:Stk39
|
UTSW |
2 |
68,196,526 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0980:Stk39
|
UTSW |
2 |
68,222,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1024:Stk39
|
UTSW |
2 |
68,240,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Stk39
|
UTSW |
2 |
68,221,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Stk39
|
UTSW |
2 |
68,137,460 (GRCm39) |
splice site |
probably benign |
|
|
R2223:Stk39
|
UTSW |
2 |
68,144,923 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3700:Stk39
|
UTSW |
2 |
68,222,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4298:Stk39
|
UTSW |
2 |
68,221,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4726:Stk39
|
UTSW |
2 |
68,093,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4975:Stk39
|
UTSW |
2 |
68,051,336 (GRCm39) |
intron |
probably benign |
|
|
R5057:Stk39
|
UTSW |
2 |
68,051,292 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5384:Stk39
|
UTSW |
2 |
68,240,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5921:Stk39
|
UTSW |
2 |
68,196,449 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6125:Stk39
|
UTSW |
2 |
68,222,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6251:Stk39
|
UTSW |
2 |
68,137,383 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6332:Stk39
|
UTSW |
2 |
68,240,387 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6375:Stk39
|
UTSW |
2 |
68,222,582 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7057:Stk39
|
UTSW |
2 |
68,240,471 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7064:Stk39
|
UTSW |
2 |
68,189,156 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7691:Stk39
|
UTSW |
2 |
68,301,983 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7921:Stk39
|
UTSW |
2 |
68,137,383 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8155:Stk39
|
UTSW |
2 |
68,097,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8920:Stk39
|
UTSW |
2 |
68,302,191 (GRCm39) |
missense |
unknown |
|
|
R9003:Stk39
|
UTSW |
2 |
68,222,462 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9530:Stk39
|
UTSW |
2 |
68,198,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9682:Stk39
|
UTSW |
2 |
68,196,449 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9784:Stk39
|
UTSW |
2 |
68,198,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Stk39
|
UTSW |
2 |
68,222,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAAAGGGCCATCACAGTC -3'
(R):5'- GTCTGTGAAAGGAATGATTTTGCAG -3'
Sequencing Primer
(F):5'- AGGGCCATCACAGTCATAGTTCTG -3'
(R):5'- AGGAATGATTTTGCAGTTTATTGC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation