Incidental Mutation 'R5282:Tssk1'
| ID |
402837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tssk1
|
| Ensembl Gene |
ENSMUSG00000041566 |
| Gene Name |
testis-specific serine kinase 1 |
| Synonyms |
Stk22a, TSK-1, Tssk, Tsk1 |
| MMRRC Submission |
042867-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R5282 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17712067-17713517 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 17713123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 303
(G303S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012152]
[ENSMUST00000046937]
[ENSMUST00000055374]
[ENSMUST00000066127]
[ENSMUST00000117082]
[ENSMUST00000117945]
[ENSMUST00000155943]
[ENSMUST00000150068]
|
| AlphaFold |
Q61241 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012152
|
| SMART Domains |
Protein: ENSMUSP00000012152
Gene: ENSMUSG00000003166
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LDLa
|
29 |
68 |
6.28e-11 |
SMART |
|
CLECT
|
114 |
265 |
1.06e-14 |
SMART |
|
VWC
|
270 |
331 |
1.42e-9 |
SMART |
|
transmembrane domain
|
345 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
449 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046937
AA Change: G303S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040302
Gene: ENSMUSG00000041566
AA Change: G303S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
12 |
272 |
3.86e-89 |
SMART |
|
low complexity region
|
315 |
326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055374
|
| SMART Domains |
Protein: ENSMUSP00000051035
Gene: ENSMUSG00000045521
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
12 |
272 |
1.39e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066127
|
| SMART Domains |
Protein: ENSMUSP00000064603
Gene: ENSMUSG00000003166
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LDLa
|
29 |
68 |
6.28e-11 |
SMART |
|
CLECT
|
111 |
262 |
1.06e-14 |
SMART |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117082
|
| SMART Domains |
Protein: ENSMUSP00000113506
Gene: ENSMUSG00000003166
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LDLa
|
29 |
68 |
5.86e-11 |
SMART |
|
CLECT
|
113 |
264 |
1.06e-14 |
SMART |
|
VWC
|
269 |
330 |
1.42e-9 |
SMART |
|
transmembrane domain
|
344 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
448 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117945
|
| SMART Domains |
Protein: ENSMUSP00000112783
Gene: ENSMUSG00000003166
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LDLa
|
29 |
68 |
6.28e-11 |
SMART |
|
CLECT
|
111 |
262 |
1.06e-14 |
SMART |
|
VWC
|
267 |
328 |
1.42e-9 |
SMART |
|
transmembrane domain
|
342 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126919
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155611
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155943
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135229
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231750
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150068
|
| SMART Domains |
Protein: ENSMUSP00000115071
Gene: ENSMUSG00000092470
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LDLa
|
29 |
68 |
6.28e-11 |
SMART |
|
CLECT
|
114 |
265 |
1.06e-14 |
SMART |
|
VWC
|
270 |
331 |
1.42e-9 |
SMART |
|
transmembrane domain
|
345 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
565 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TSSK1 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele of Tssk1 and 2 are infertile due to arrested spermatogenesis. [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 |
|---|
| 1700102P08Rik |
T |
A |
9: 108,270,439 (GRCm39) |
M1K |
probably null |
Het |
| 2810021J22Rik |
T |
C |
11: 58,771,166 (GRCm39) |
L216S |
possibly damaging |
Het |
| 4933405O20Rik |
G |
A |
7: 50,249,220 (GRCm39) |
E85K |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,257,492 (GRCm39) |
F1153L |
probably damaging |
Het |
| Cbx8 |
A |
G |
11: 118,929,742 (GRCm39) |
S284P |
probably damaging |
Het |
| Cep128 |
A |
G |
12: 91,305,893 (GRCm39) |
L170P |
probably damaging |
Het |
| Cyp4f14 |
T |
A |
17: 33,126,959 (GRCm39) |
T324S |
probably damaging |
Het |
| Daw1 |
G |
T |
1: 83,170,419 (GRCm39) |
V244L |
probably benign |
Het |
| Eef2kmt |
A |
G |
16: 5,063,222 (GRCm39) |
V306A |
probably benign |
Het |
| Enah |
A |
T |
1: 181,763,293 (GRCm39) |
|
probably null |
Het |
| Fam171b |
T |
C |
2: 83,683,949 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
C |
T |
2: 82,808,925 (GRCm39) |
T1748I |
possibly damaging |
Het |
| Gabrg2 |
C |
T |
11: 41,862,559 (GRCm39) |
G175D |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Hmcn1 |
G |
T |
1: 150,458,047 (GRCm39) |
N33K |
probably damaging |
Het |
| Incenp |
T |
A |
19: 9,855,770 (GRCm39) |
E514V |
unknown |
Het |
| Kank3 |
T |
C |
17: 34,036,917 (GRCm39) |
S74P |
probably benign |
Het |
| Lrriq1 |
G |
T |
10: 103,051,206 (GRCm39) |
N515K |
probably benign |
Het |
| Mfsd13b |
G |
A |
7: 120,591,056 (GRCm39) |
D266N |
probably damaging |
Het |
| Neto1 |
T |
C |
18: 86,422,998 (GRCm39) |
Y152H |
probably damaging |
Het |
| Nub1 |
C |
A |
5: 24,900,533 (GRCm39) |
F145L |
probably benign |
Het |
| Nufip1 |
T |
C |
14: 76,351,715 (GRCm39) |
|
probably null |
Het |
| Pard6g |
T |
A |
18: 80,123,116 (GRCm39) |
V50E |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Rapgef5 |
A |
C |
12: 117,703,379 (GRCm39) |
N431T |
probably damaging |
Het |
| Rassf9 |
A |
T |
10: 102,381,205 (GRCm39) |
T196S |
probably damaging |
Het |
| Rrp12 |
T |
C |
19: 41,865,029 (GRCm39) |
Y764C |
probably benign |
Het |
| Slfn8 |
T |
C |
11: 82,908,550 (GRCm39) |
|
probably null |
Het |
| Smox |
T |
A |
2: 131,363,026 (GRCm39) |
V265D |
probably damaging |
Het |
| Sult1b1 |
T |
C |
5: 87,678,510 (GRCm39) |
I105V |
probably benign |
Het |
| Sycp2 |
T |
C |
2: 178,045,554 (GRCm39) |
D22G |
probably damaging |
Het |
| Tbck |
G |
A |
3: 132,456,977 (GRCm39) |
M630I |
possibly damaging |
Het |
| Tenm4 |
G |
C |
7: 96,486,538 (GRCm39) |
G965R |
possibly damaging |
Het |
| Trappc10 |
G |
A |
10: 78,023,694 (GRCm39) |
T1258I |
probably damaging |
Het |
| Tstd2 |
T |
C |
4: 46,120,461 (GRCm39) |
Y313C |
probably damaging |
Het |
| Usp42 |
G |
A |
5: 143,707,401 (GRCm39) |
T260M |
probably damaging |
Het |
| Wdr43 |
T |
A |
17: 71,955,772 (GRCm39) |
V479E |
probably damaging |
Het |
| Xpo7 |
G |
A |
14: 70,921,171 (GRCm39) |
T599I |
probably damaging |
Het |
| Zfp553 |
A |
G |
7: 126,836,013 (GRCm39) |
K523E |
probably benign |
Het |
|
| Other mutations in Tssk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02016:Tssk1
|
APN |
16 |
17,712,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Tssk1
|
UTSW |
16 |
17,712,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5613:Tssk1
|
UTSW |
16 |
17,712,364 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5945:Tssk1
|
UTSW |
16 |
17,712,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6085:Tssk1
|
UTSW |
16 |
17,712,848 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6246:Tssk1
|
UTSW |
16 |
17,713,303 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7537:Tssk1
|
UTSW |
16 |
17,712,948 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7818:Tssk1
|
UTSW |
16 |
17,712,311 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8868:Tssk1
|
UTSW |
16 |
17,712,884 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9187:Tssk1
|
UTSW |
16 |
17,712,457 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9249:Tssk1
|
UTSW |
16 |
17,712,724 (GRCm39) |
missense |
probably benign |
|
|
R9274:Tssk1
|
UTSW |
16 |
17,712,724 (GRCm39) |
missense |
probably benign |
|
|
R9699:Tssk1
|
UTSW |
16 |
17,712,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0010:Tssk1
|
UTSW |
16 |
17,713,088 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCTCTAAACACCTGACTGG -3'
(R):5'- CTGCAAGAGGCTCACTAAGTATG -3'
Sequencing Primer
(F):5'- GTGAGTGCAAGGACCTCATCTAC -3'
(R):5'- CAAGAGGCTCACTAAGTATGTGTCTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation