Incidental Mutation 'R2414:Tesk2'
| ID |
250095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tesk2
|
| Ensembl Gene |
ENSMUSG00000033985 |
| Gene Name |
testis-specific kinase 2 |
| Synonyms |
|
| MMRRC Submission |
040378-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R2414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116578107-116661450 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116658954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 276
(W276R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030451]
[ENSMUST00000045542]
[ENSMUST00000106455]
[ENSMUST00000106456]
[ENSMUST00000106459]
[ENSMUST00000145468]
|
| AlphaFold |
Q8VCT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030451
|
| SMART Domains |
Protein: ENSMUSP00000030451
Gene: ENSMUSG00000028688
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
Pfam:CAF1
|
39 |
171 |
3.1e-46 |
PFAM |
|
Pfam:CAF1
|
164 |
452 |
9.9e-40 |
PFAM |
|
Pfam:zf-CCCH
|
297 |
322 |
2.1e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045542
AA Change: V277A
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000041009
Gene: ENSMUSG00000033985
AA Change: V277A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
30 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
59 |
309 |
1.6e-48 |
PFAM |
|
Pfam:Pkinase_Tyr
|
59 |
309 |
1.2e-50 |
PFAM |
|
low complexity region
|
539 |
546 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106455
|
| SMART Domains |
Protein: ENSMUSP00000102063
Gene: ENSMUSG00000028688
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
Pfam:CAF1
|
37 |
301 |
2.1e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106456
|
| SMART Domains |
Protein: ENSMUSP00000102064
Gene: ENSMUSG00000033985
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
30 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
59 |
291 |
4.5e-46 |
PFAM |
|
Pfam:Pkinase
|
60 |
332 |
3.6e-46 |
PFAM |
|
low complexity region
|
510 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106459
AA Change: W276R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102067
Gene: ENSMUSG00000033985
AA Change: W276R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
30 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
59 |
238 |
6.1e-37 |
PFAM |
|
Pfam:Pkinase
|
60 |
239 |
4.3e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154195
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145468
|
| SMART Domains |
Protein: ENSMUSP00000117019
Gene: ENSMUSG00000028688
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1
|
1 |
184 |
2.2e-58 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr2 |
C |
A |
9: 121,738,040 (GRCm39) |
S138R |
probably damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,687,424 (GRCm39) |
E216G |
probably benign |
Het |
| Aspscr1 |
T |
C |
11: 120,580,048 (GRCm39) |
S196P |
probably benign |
Het |
| AU040320 |
A |
T |
4: 126,762,484 (GRCm39) |
|
probably null |
Het |
| BC002059 |
T |
C |
17: 17,193,932 (GRCm39) |
|
noncoding transcript |
Het |
| Cep112 |
A |
G |
11: 108,643,408 (GRCm39) |
N799S |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,181,927 (GRCm39) |
|
probably benign |
Het |
| Cpn2 |
T |
C |
16: 30,079,392 (GRCm39) |
E103G |
probably benign |
Het |
| Cpt1b |
G |
A |
15: 89,304,283 (GRCm39) |
|
probably benign |
Het |
| Epor |
T |
A |
9: 21,870,785 (GRCm39) |
D365V |
probably damaging |
Het |
| H2bc21 |
T |
A |
3: 96,128,750 (GRCm39) |
I90N |
possibly damaging |
Het |
| Hip1r |
T |
C |
5: 124,139,306 (GRCm39) |
Y900H |
probably damaging |
Het |
| Hoxc9 |
A |
T |
15: 102,892,540 (GRCm39) |
N251I |
probably damaging |
Het |
| Hpd |
C |
T |
5: 123,315,587 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
T |
A |
3: 30,688,711 (GRCm39) |
I197L |
probably benign |
Het |
| Msi2 |
A |
G |
11: 88,607,373 (GRCm39) |
V78A |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,141,594 (GRCm39) |
I818V |
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,956,629 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,496,582 (GRCm39) |
N362S |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,945,054 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,289,831 (GRCm39) |
|
probably null |
Het |
| Sgsm3 |
A |
G |
15: 80,890,946 (GRCm39) |
N136D |
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,181,976 (GRCm39) |
C583R |
probably damaging |
Het |
| Surf1 |
A |
G |
2: 26,806,295 (GRCm39) |
W13R |
probably damaging |
Het |
| Tmem8b |
A |
G |
4: 43,673,892 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
G |
17: 72,023,304 (GRCm39) |
|
probably benign |
Het |
| Ttll11 |
A |
G |
2: 35,869,546 (GRCm39) |
S31P |
unknown |
Het |
| Ttll8 |
A |
G |
15: 88,820,336 (GRCm39) |
|
probably benign |
Het |
| Tub |
A |
G |
7: 108,626,240 (GRCm39) |
K259E |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,439,683 (GRCm39) |
I162M |
probably benign |
Het |
| Vamp8 |
C |
T |
6: 72,365,326 (GRCm39) |
M1I |
probably null |
Het |
| Zfp503 |
C |
A |
14: 22,036,032 (GRCm39) |
G295* |
probably null |
Het |
|
| Other mutations in Tesk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01625:Tesk2
|
APN |
4 |
116,628,998 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02051:Tesk2
|
APN |
4 |
116,608,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02223:Tesk2
|
APN |
4 |
116,599,022 (GRCm39) |
nonsense |
probably null |
|
|
IGL02747:Tesk2
|
APN |
4 |
116,660,076 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02942:Tesk2
|
APN |
4 |
116,629,017 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB006:Tesk2
|
UTSW |
4 |
116,659,452 (GRCm39) |
missense |
probably benign |
0.08 |
|
BB016:Tesk2
|
UTSW |
4 |
116,659,452 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1804:Tesk2
|
UTSW |
4 |
116,657,818 (GRCm39) |
unclassified |
probably benign |
|
|
R1936:Tesk2
|
UTSW |
4 |
116,599,021 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1986:Tesk2
|
UTSW |
4 |
116,608,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4632:Tesk2
|
UTSW |
4 |
116,598,909 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4896:Tesk2
|
UTSW |
4 |
116,660,190 (GRCm39) |
missense |
probably benign |
|
|
R5186:Tesk2
|
UTSW |
4 |
116,599,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5209:Tesk2
|
UTSW |
4 |
116,581,895 (GRCm39) |
start gained |
probably benign |
|
|
R5278:Tesk2
|
UTSW |
4 |
116,663,133 (GRCm39) |
intron |
probably benign |
|
|
R5769:Tesk2
|
UTSW |
4 |
116,659,512 (GRCm39) |
splice site |
probably null |
|
|
R6199:Tesk2
|
UTSW |
4 |
116,649,367 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6464:Tesk2
|
UTSW |
4 |
116,660,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6567:Tesk2
|
UTSW |
4 |
116,649,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6867:Tesk2
|
UTSW |
4 |
116,658,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7028:Tesk2
|
UTSW |
4 |
116,659,884 (GRCm39) |
nonsense |
probably null |
|
|
R7929:Tesk2
|
UTSW |
4 |
116,659,452 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8830:Tesk2
|
UTSW |
4 |
116,659,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8957:Tesk2
|
UTSW |
4 |
116,659,910 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9043:Tesk2
|
UTSW |
4 |
116,660,148 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9074:Tesk2
|
UTSW |
4 |
116,658,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9464:Tesk2
|
UTSW |
4 |
116,658,443 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACGATGGAACTGTTTTACCC -3'
(R):5'- CTCTGGAGAGCCTGTACAGATC -3'
Sequencing Primer
(F):5'- CGATGGAACTGTTTTACCCTTGGG -3'
(R):5'- AGGAATATGGTTGGTGTTACACATC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation