Incidental Mutation 'IGL01286:Tssk2'
| ID |
72725 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tssk2
|
| Ensembl Gene |
ENSMUSG00000045521 |
| Gene Name |
testis-specific serine kinase 2 |
| Synonyms |
SPOGA2, Stk22b, Tsk2, DGS-G |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.283)
|
| Stock # |
IGL01286
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17716501-17717888 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 17716822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 75
(T75I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051035
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003621]
[ENSMUST00000046937]
[ENSMUST00000055374]
[ENSMUST00000155943]
[ENSMUST00000232423]
|
| AlphaFold |
O54863 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003621
|
| SMART Domains |
Protein: ENSMUSP00000003621
Gene: ENSMUSG00000003527
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
34 |
N/A |
INTRINSIC |
|
Pfam:Es2
|
37 |
405 |
1.9e-76 |
PFAM |
|
low complexity region
|
434 |
455 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046937
|
| SMART Domains |
Protein: ENSMUSP00000040302
Gene: ENSMUSG00000041566
| 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
AA Change: T75I
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000051035
Gene: ENSMUSG00000045521
AA Change: T75I
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
12 |
272 |
1.39e-90 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126919
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155943
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231750
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232366
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232423
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TSSK2 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,629,578 (GRCm39) |
C214S |
possibly damaging |
Het |
| Ankrd26 |
A |
T |
6: 118,536,068 (GRCm39) |
V122E |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,922,950 (GRCm39) |
K389R |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,848,432 (GRCm39) |
N862I |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,391,261 (GRCm39) |
Q325L |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,750,235 (GRCm39) |
|
probably null |
Het |
| Cmtr2 |
T |
A |
8: 110,949,484 (GRCm39) |
I598N |
possibly damaging |
Het |
| Col1a2 |
A |
C |
6: 4,533,891 (GRCm39) |
E857D |
unknown |
Het |
| Col2a1 |
G |
A |
15: 97,892,759 (GRCm39) |
P237L |
unknown |
Het |
| Commd2 |
G |
A |
3: 57,558,143 (GRCm39) |
T66M |
probably benign |
Het |
| Cyp2c50 |
A |
T |
19: 40,080,728 (GRCm39) |
K241N |
probably benign |
Het |
| Fbxo2 |
A |
G |
4: 148,250,163 (GRCm39) |
N231S |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,251,773 (GRCm39) |
S8P |
probably benign |
Het |
| Ip6k1 |
A |
G |
9: 107,923,082 (GRCm39) |
T405A |
probably benign |
Het |
| Kel |
G |
T |
6: 41,665,051 (GRCm39) |
|
probably null |
Het |
| Lin54 |
T |
C |
5: 100,633,466 (GRCm39) |
T73A |
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,577,250 (GRCm39) |
V1052D |
possibly damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,592 (GRCm39) |
I172K |
probably damaging |
Het |
| Or6c6 |
T |
A |
10: 129,186,519 (GRCm39) |
L29H |
probably damaging |
Het |
| Pcid2 |
T |
C |
8: 13,140,660 (GRCm39) |
D155G |
probably damaging |
Het |
| Ptchd1 |
T |
C |
X: 154,357,820 (GRCm39) |
T462A |
possibly damaging |
Het |
| Pxdn |
A |
G |
12: 30,032,753 (GRCm39) |
E179G |
probably benign |
Het |
| Rfc2 |
T |
C |
5: 134,618,243 (GRCm39) |
L82P |
probably damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,272,676 (GRCm39) |
|
probably null |
Het |
| Sis |
A |
T |
3: 72,848,358 (GRCm39) |
W639R |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,384,719 (GRCm39) |
|
probably null |
Het |
| Tert |
G |
A |
13: 73,776,416 (GRCm39) |
R389H |
possibly damaging |
Het |
| Tns3 |
C |
T |
11: 8,442,617 (GRCm39) |
S582N |
probably benign |
Het |
| Txnl4a |
C |
T |
18: 80,261,956 (GRCm39) |
T64I |
probably benign |
Het |
| Xpot |
T |
C |
10: 121,438,243 (GRCm39) |
D782G |
probably benign |
Het |
|
| Other mutations in Tssk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02117:Tssk2
|
APN |
16 |
17,717,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0195:Tssk2
|
UTSW |
16 |
17,717,439 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0674:Tssk2
|
UTSW |
16 |
17,716,930 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2202:Tssk2
|
UTSW |
16 |
17,716,603 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2204:Tssk2
|
UTSW |
16 |
17,716,603 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3755:Tssk2
|
UTSW |
16 |
17,716,827 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5427:Tssk2
|
UTSW |
16 |
17,716,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6245:Tssk2
|
UTSW |
16 |
17,716,812 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6919:Tssk2
|
UTSW |
16 |
17,717,565 (GRCm39) |
missense |
probably benign |
|
|
R7324:Tssk2
|
UTSW |
16 |
17,717,227 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7837:Tssk2
|
UTSW |
16 |
17,716,615 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8926:Tssk2
|
UTSW |
16 |
17,717,562 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation