Incidental Mutation 'IGL02609:Stk35'
| ID |
300418 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stk35
|
| Ensembl Gene |
ENSMUSG00000037885 |
| Gene Name |
serine/threonine kinase 35 |
| Synonyms |
CLP-36 interacting kinase, CLIK1, 1700054C12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02609
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
129642437-129674207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129643721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 235
(V235A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165413]
[ENSMUST00000166282]
|
| AlphaFold |
Q80ZW0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165413
AA Change: V235A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126541
Gene: ENSMUSG00000037885
AA Change: V235A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
207 |
295 |
2e-6 |
PFAM |
|
Pfam:Pkinase
|
207 |
531 |
8.6e-51 |
PFAM |
|
Pfam:Pkinase_Tyr
|
304 |
532 |
2.1e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166282
AA Change: V235A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132862
Gene: ENSMUSG00000037885
AA Change: V235A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
207 |
300 |
5.9e-7 |
PFAM |
|
Pfam:Pkinase
|
207 |
311 |
1e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kinase that is predominantly found in the nucleus. However, it can interact with PDLIM1/CLP-36 in the cytoplasm and localize to actin stress fibers. The encoded protein may be a regulator of actin stress fibers in nonmuscle cells. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,381,854 (GRCm39) |
|
probably benign |
Het |
| Aadacl4fm5 |
T |
A |
4: 144,506,307 (GRCm39) |
D128V |
probably damaging |
Het |
| Adcy10 |
T |
G |
1: 165,366,044 (GRCm39) |
Y520* |
probably null |
Het |
| Agrn |
A |
T |
4: 156,259,680 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
A |
T |
17: 47,779,297 (GRCm39) |
|
probably benign |
Het |
| Arhgap6 |
A |
G |
X: 167,961,062 (GRCm39) |
|
probably benign |
Het |
| Asxl2 |
T |
C |
12: 3,550,018 (GRCm39) |
S587P |
probably damaging |
Het |
| B3gntl1 |
A |
G |
11: 121,535,427 (GRCm39) |
|
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,180,224 (GRCm39) |
F2527L |
possibly damaging |
Het |
| Baz2b |
T |
A |
2: 59,747,713 (GRCm39) |
M1317L |
possibly damaging |
Het |
| Bcas3 |
A |
T |
11: 85,348,720 (GRCm39) |
K204I |
probably damaging |
Het |
| Bpnt2 |
T |
A |
4: 4,767,763 (GRCm39) |
R338* |
probably null |
Het |
| C1qtnf1 |
T |
C |
11: 118,338,830 (GRCm39) |
F167L |
probably damaging |
Het |
| Cfap58 |
C |
T |
19: 47,963,941 (GRCm39) |
T523M |
possibly damaging |
Het |
| Ddb1 |
T |
A |
19: 10,599,830 (GRCm39) |
C680S |
possibly damaging |
Het |
| Eef1d |
T |
C |
15: 75,768,162 (GRCm39) |
Q200R |
probably null |
Het |
| Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
| Gm28557 |
T |
A |
13: 67,219,083 (GRCm39) |
K214* |
probably null |
Het |
| Gm8229 |
A |
C |
14: 44,604,082 (GRCm39) |
E90D |
probably benign |
Het |
| Hhla1 |
T |
C |
15: 65,802,463 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
C |
T |
13: 42,309,130 (GRCm39) |
H457Y |
probably damaging |
Het |
| Htr2c |
T |
C |
X: 145,976,756 (GRCm39) |
|
probably benign |
Het |
| Ifi44 |
A |
T |
3: 151,438,134 (GRCm39) |
S384R |
probably damaging |
Het |
| Kirrel2 |
T |
C |
7: 30,147,765 (GRCm39) |
T628A |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,749,674 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,220,716 (GRCm39) |
I655N |
probably damaging |
Het |
| Lrrd1 |
G |
A |
5: 3,908,803 (GRCm39) |
V692I |
probably benign |
Het |
| Lypd8l |
A |
T |
11: 58,503,442 (GRCm39) |
C29S |
probably damaging |
Het |
| Nes |
T |
C |
3: 87,884,528 (GRCm39) |
I929T |
probably benign |
Het |
| Ogfr |
T |
C |
2: 180,234,308 (GRCm39) |
|
probably benign |
Het |
| Pwwp3a |
A |
T |
10: 80,065,917 (GRCm39) |
E57V |
probably damaging |
Het |
| Rfx2 |
G |
T |
17: 57,112,404 (GRCm39) |
P43Q |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Sh3tc1 |
T |
C |
5: 35,864,516 (GRCm39) |
K495R |
probably damaging |
Het |
| Slit1 |
A |
T |
19: 41,590,743 (GRCm39) |
C1310S |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Syde2 |
T |
G |
3: 145,704,275 (GRCm39) |
V142G |
probably benign |
Het |
| Tgfb3 |
A |
G |
12: 86,124,613 (GRCm39) |
F32L |
probably benign |
Het |
| Tmem35a |
T |
C |
X: 133,205,446 (GRCm39) |
F121L |
probably damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,281,289 (GRCm39) |
D963E |
probably benign |
Het |
| Vmn1r26 |
A |
G |
6: 57,985,860 (GRCm39) |
S110P |
probably damaging |
Het |
| Vpreb1b |
T |
C |
16: 17,798,558 (GRCm39) |
|
probably benign |
Het |
| Xrn2 |
A |
T |
2: 146,891,945 (GRCm39) |
T721S |
probably benign |
Het |
|
| Other mutations in Stk35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00850:Stk35
|
APN |
2 |
129,643,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
fingernails
|
UTSW |
2 |
129,652,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256_Stk35_331
|
UTSW |
2 |
129,652,427 (GRCm39) |
nonsense |
probably null |
|
|
skinned
|
UTSW |
2 |
129,653,155 (GRCm39) |
intron |
probably benign |
|
|
R0045:Stk35
|
UTSW |
2 |
129,642,488 (GRCm39) |
nonsense |
probably null |
|
|
R0306:Stk35
|
UTSW |
2 |
129,643,683 (GRCm39) |
nonsense |
probably null |
|
|
R0784:Stk35
|
UTSW |
2 |
129,652,722 (GRCm39) |
nonsense |
probably null |
|
|
R1536:Stk35
|
UTSW |
2 |
129,653,155 (GRCm39) |
intron |
probably benign |
|
|
R2256:Stk35
|
UTSW |
2 |
129,652,427 (GRCm39) |
nonsense |
probably null |
|
|
R2507:Stk35
|
UTSW |
2 |
129,643,435 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2508:Stk35
|
UTSW |
2 |
129,643,435 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3848:Stk35
|
UTSW |
2 |
129,642,656 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3872:Stk35
|
UTSW |
2 |
129,652,495 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4466:Stk35
|
UTSW |
2 |
129,643,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5144:Stk35
|
UTSW |
2 |
129,652,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6267:Stk35
|
UTSW |
2 |
129,652,808 (GRCm39) |
nonsense |
probably null |
|
|
R6296:Stk35
|
UTSW |
2 |
129,652,808 (GRCm39) |
nonsense |
probably null |
|
|
R6480:Stk35
|
UTSW |
2 |
129,652,607 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6807:Stk35
|
UTSW |
2 |
129,643,573 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7203:Stk35
|
UTSW |
2 |
129,643,513 (GRCm39) |
missense |
probably benign |
|
|
R7476:Stk35
|
UTSW |
2 |
129,652,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8505:Stk35
|
UTSW |
2 |
129,643,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8998:Stk35
|
UTSW |
2 |
129,652,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8999:Stk35
|
UTSW |
2 |
129,652,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9224:Stk35
|
UTSW |
2 |
129,652,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9760:Stk35
|
UTSW |
2 |
129,642,605 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation