Incidental Mutation 'R5002:Tesk1'
| ID |
446618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tesk1
|
| Ensembl Gene |
ENSMUSG00000028458 |
| Gene Name |
testis specific protein kinase 1 |
| Synonyms |
|
| MMRRC Submission |
042596-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.336)
|
| Stock # |
R5002 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43442277-43448075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43444573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 126
(Y126H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030179]
[ENSMUST00000060864]
[ENSMUST00000098104]
[ENSMUST00000098105]
[ENSMUST00000107925]
[ENSMUST00000107926]
[ENSMUST00000138981]
|
| AlphaFold |
O70146 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030179
|
| SMART Domains |
Protein: ENSMUSP00000030179
Gene: ENSMUSG00000028459
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
|
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
coiled coil region
|
137 |
223 |
N/A |
INTRINSIC |
|
CLECT
|
232 |
348 |
2.28e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060864
AA Change: Y126H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000050087
Gene: ENSMUSG00000028458
AA Change: Y126H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
33 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
52 |
306 |
5.4e-46 |
PFAM |
|
Pfam:Pkinase_Tyr
|
52 |
306 |
3.1e-47 |
PFAM |
|
low complexity region
|
316 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
549 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098104
|
| SMART Domains |
Protein: ENSMUSP00000095708
Gene: ENSMUSG00000028459
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
|
coiled coil region
|
83 |
169 |
N/A |
INTRINSIC |
|
CLECT
|
178 |
287 |
2.48e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098105
|
| SMART Domains |
Protein: ENSMUSP00000095709
Gene: ENSMUSG00000028459
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
|
transmembrane domain
|
72 |
94 |
N/A |
INTRINSIC |
|
coiled coil region
|
113 |
199 |
N/A |
INTRINSIC |
|
CLECT
|
208 |
324 |
2.28e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107925
|
| SMART Domains |
Protein: ENSMUSP00000103558
Gene: ENSMUSG00000028459
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
|
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
coiled coil region
|
137 |
223 |
N/A |
INTRINSIC |
|
CLECT
|
232 |
334 |
2.65e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107926
|
| SMART Domains |
Protein: ENSMUSP00000103559
Gene: ENSMUSG00000028459
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
|
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
coiled coil region
|
137 |
223 |
N/A |
INTRINSIC |
|
CLECT
|
232 |
341 |
2.48e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126350
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138981
AA Change: Y126H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121067
Gene: ENSMUSG00000028458
AA Change: Y126H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
33 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
52 |
174 |
7.6e-29 |
PFAM |
|
Pfam:Pkinase_Tyr
|
52 |
175 |
1.5e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156810
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137178
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134850
|
| Meta Mutation Damage Score |
0.9227 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
94% (44/47) |
| 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 and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to those of the LIM motif-containing protein kinases (LIMKs). The encoded protein can phosphorylate myelin basic protein and histone in vitro. The testicular germ cell-specific expression and developmental pattern of expression of the mouse gene suggests that this gene plays an important role at and after the meiotic phase of spermatogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,852,623 (GRCm39) |
P736S |
probably damaging |
Het |
| Apbb2 |
A |
G |
5: 66,470,668 (GRCm39) |
I523T |
possibly damaging |
Het |
| Casq1 |
T |
A |
1: 172,040,945 (GRCm39) |
D281V |
possibly damaging |
Het |
| Catsperb |
T |
C |
12: 101,486,813 (GRCm39) |
F447L |
probably benign |
Het |
| Cenpe |
A |
T |
3: 134,952,842 (GRCm39) |
M1511L |
probably benign |
Het |
| Cep128 |
T |
C |
12: 91,222,497 (GRCm39) |
|
probably null |
Het |
| Col6a6 |
T |
C |
9: 105,663,292 (GRCm39) |
T82A |
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,786,621 (GRCm39) |
D123G |
probably damaging |
Het |
| Ergic2 |
A |
G |
6: 148,085,656 (GRCm39) |
I281T |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,785,528 (GRCm39) |
|
probably null |
Het |
| Filip1l |
T |
C |
16: 57,391,466 (GRCm39) |
Y447H |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,945,882 (GRCm38) |
M2429K |
probably damaging |
Het |
| Fn1 |
T |
A |
1: 71,668,887 (GRCm39) |
Q686L |
possibly damaging |
Het |
| Gm10644 |
T |
C |
8: 84,660,216 (GRCm39) |
D43G |
possibly damaging |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Gpx6 |
A |
G |
13: 21,497,858 (GRCm39) |
Y43C |
probably damaging |
Het |
| Hhat |
A |
T |
1: 192,225,498 (GRCm39) |
F494I |
probably benign |
Het |
| Itga9 |
C |
A |
9: 118,492,966 (GRCm39) |
S287* |
probably null |
Het |
| Lrrk1 |
C |
A |
7: 65,982,111 (GRCm39) |
G177W |
probably damaging |
Het |
| Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
| Ms4a14 |
T |
C |
19: 11,281,653 (GRCm39) |
I302V |
probably benign |
Het |
| Nepn |
A |
C |
10: 52,267,850 (GRCm39) |
M39L |
probably benign |
Het |
| Nfil3 |
C |
A |
13: 53,122,712 (GRCm39) |
R64L |
probably damaging |
Het |
| Ociad1 |
T |
C |
5: 73,467,659 (GRCm39) |
V199A |
possibly damaging |
Het |
| Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
| Or8k3b |
C |
A |
2: 86,520,429 (GRCm39) |
V297L |
possibly damaging |
Het |
| Polk |
A |
G |
13: 96,625,752 (GRCm39) |
Y431H |
probably damaging |
Het |
| Prss33 |
C |
T |
17: 24,054,332 (GRCm39) |
|
probably benign |
Het |
| Semp2l2b |
G |
C |
10: 21,943,716 (GRCm39) |
P88R |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,911,896 (GRCm39) |
N4S |
possibly damaging |
Het |
| Slc29a4 |
A |
T |
5: 142,704,501 (GRCm39) |
I348F |
probably damaging |
Het |
| Smarce1 |
T |
C |
11: 99,115,889 (GRCm39) |
N44S |
probably damaging |
Het |
| Spast |
C |
T |
17: 74,676,221 (GRCm39) |
Q344* |
probably null |
Het |
| Stk11ip |
C |
A |
1: 75,509,187 (GRCm39) |
|
probably benign |
Het |
| Tas2r131 |
T |
C |
6: 132,934,114 (GRCm39) |
I232V |
probably benign |
Het |
| Tmpo |
A |
G |
10: 90,999,976 (GRCm39) |
V164A |
possibly damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vwc2l |
T |
G |
1: 70,768,205 (GRCm39) |
C43G |
probably damaging |
Het |
| Wnk1 |
G |
A |
6: 119,914,924 (GRCm39) |
T1626I |
probably benign |
Het |
| Zpld2 |
T |
A |
4: 133,924,231 (GRCm39) |
N438I |
probably benign |
Het |
|
| Other mutations in Tesk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01755:Tesk1
|
APN |
4 |
43,445,820 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02969:Tesk1
|
APN |
4 |
43,447,026 (GRCm39) |
nonsense |
probably null |
|
|
IGL02969:Tesk1
|
APN |
4 |
43,447,027 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
FR4449:Tesk1
|
UTSW |
4 |
43,447,002 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4737:Tesk1
|
UTSW |
4 |
43,447,004 (GRCm39) |
frame shift |
probably null |
|
|
R0009:Tesk1
|
UTSW |
4 |
43,445,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0396:Tesk1
|
UTSW |
4 |
43,446,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0765:Tesk1
|
UTSW |
4 |
43,446,706 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1850:Tesk1
|
UTSW |
4 |
43,443,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Tesk1
|
UTSW |
4 |
43,447,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1903:Tesk1
|
UTSW |
4 |
43,446,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3961:Tesk1
|
UTSW |
4 |
43,445,133 (GRCm39) |
splice site |
probably null |
|
|
R3973:Tesk1
|
UTSW |
4 |
43,445,786 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3975:Tesk1
|
UTSW |
4 |
43,445,786 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3976:Tesk1
|
UTSW |
4 |
43,445,786 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4074:Tesk1
|
UTSW |
4 |
43,443,606 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4908:Tesk1
|
UTSW |
4 |
43,445,555 (GRCm39) |
nonsense |
probably null |
|
|
R5237:Tesk1
|
UTSW |
4 |
43,447,100 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6755:Tesk1
|
UTSW |
4 |
43,445,991 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6886:Tesk1
|
UTSW |
4 |
43,443,592 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6991:Tesk1
|
UTSW |
4 |
43,447,006 (GRCm39) |
missense |
probably benign |
|
|
R6992:Tesk1
|
UTSW |
4 |
43,447,006 (GRCm39) |
missense |
probably benign |
|
|
R6993:Tesk1
|
UTSW |
4 |
43,447,006 (GRCm39) |
missense |
probably benign |
|
|
R7401:Tesk1
|
UTSW |
4 |
43,445,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7542:Tesk1
|
UTSW |
4 |
43,445,941 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7825:Tesk1
|
UTSW |
4 |
43,447,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8795:Tesk1
|
UTSW |
4 |
43,446,070 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9200:Tesk1
|
UTSW |
4 |
43,447,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9673:Tesk1
|
UTSW |
4 |
43,444,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Tesk1
|
UTSW |
4 |
43,443,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tesk1
|
UTSW |
4 |
43,446,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTACATAGTCCTACTGTGAGAG -3'
(R):5'- ATGTCAATATCCACAGGCCAATTAC -3'
Sequencing Primer
(F):5'- GACAGGGTAGCCTAGTATATAAATGG -3'
(R):5'- AGTCACAAACCCTCTTTAATCGTTC -3'
|
| Posted On |
2016-11-23 |
Incidental Mutation