Incidental Mutation 'R6085:Tssk1'
| ID |
482451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tssk1
|
| Ensembl Gene |
ENSMUSG00000041566 |
| Gene Name |
testis-specific serine kinase 1 |
| Synonyms |
Stk22a, TSK-1, Tssk, Tsk1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6085 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17712067-17713517 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 17712848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 211
(C211Y)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000046937
AA Change: C211Y
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040302
Gene: ENSMUSG00000041566
AA Change: C211Y
| 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: ENSMUST00000135229
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155943
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155611
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231750
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Boc |
G |
T |
16: 44,308,970 (GRCm39) |
D847E |
probably damaging |
Het |
| Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,134,255 (GRCm39) |
I1051T |
unknown |
Het |
| Ciita |
A |
G |
16: 10,330,029 (GRCm39) |
E771G |
probably benign |
Het |
| Cul2 |
T |
C |
18: 3,431,508 (GRCm39) |
F638L |
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,429,866 (GRCm39) |
Y293H |
probably damaging |
Het |
| Dhx8 |
C |
T |
11: 101,655,139 (GRCm39) |
R1050W |
probably damaging |
Het |
| Etv1 |
G |
A |
12: 38,904,194 (GRCm39) |
D285N |
probably damaging |
Het |
| Hs3st3a1 |
G |
A |
11: 64,327,004 (GRCm39) |
V38I |
possibly damaging |
Het |
| Ifit1bl2 |
A |
C |
19: 34,597,217 (GRCm39) |
F133C |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,615,156 (GRCm39) |
T1360I |
probably benign |
Het |
| Mgrn1 |
A |
G |
16: 4,738,240 (GRCm39) |
T265A |
probably benign |
Het |
| Nup155 |
T |
C |
15: 8,177,842 (GRCm39) |
V1075A |
probably damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,859,950 (GRCm39) |
Y35C |
|
Het |
| Pld4 |
A |
G |
12: 112,733,320 (GRCm39) |
T299A |
probably benign |
Het |
| Prr5 |
T |
A |
15: 84,572,106 (GRCm39) |
I38N |
probably damaging |
Het |
| Slc25a47 |
A |
G |
12: 108,820,254 (GRCm39) |
Y86C |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,817,308 (GRCm39) |
I241M |
possibly damaging |
Het |
| Synrg |
A |
T |
11: 83,930,487 (GRCm39) |
E1276D |
possibly damaging |
Het |
| Taar7e |
T |
C |
10: 23,913,761 (GRCm39) |
F84L |
probably benign |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Xpo7 |
A |
T |
14: 70,934,051 (GRCm39) |
S236T |
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 |
|
R5282:Tssk1
|
UTSW |
16 |
17,713,123 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- CTGACTTCGGCTTCTCCAAG -3'
(R):5'- TTGTTGATGGCTCCAGAGGAC -3'
Sequencing Primer
(F):5'- GCTTCTCCAAGCGCTGC -3'
(R):5'- CCAGCAGTGGTTAAGGATCTCATC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation