Incidental Mutation 'IGL01292:Tsks'
| ID |
72953 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tsks
|
| Ensembl Gene |
ENSMUSG00000059891 |
| Gene Name |
testis-specific serine kinase substrate |
| Synonyms |
clone 4, Tsks, Tssks1, Stk22s1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01292
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44592628-44607459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44601982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 224
(Y224H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080233]
[ENSMUST00000120929]
[ENSMUST00000207719]
|
| AlphaFold |
O54887 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080233
AA Change: Y224H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079122
Gene: ENSMUSG00000059891
AA Change: Y224H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TSKS
|
26 |
525 |
5.7e-281 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120929
AA Change: Y233H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112673
Gene: ENSMUSG00000059891
AA Change: Y233H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TSKS
|
26 |
585 |
8.1e-297 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207719
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208475
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene is a member of a small family of testis-specific serine/threonine kinases. This gene may play a role in testicular physiology or spermiogenesis. Its expression is restricted to the testis during the last stages of spermatid maturation. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,382,831 (GRCm39) |
S1045G |
probably benign |
Het |
| Aak1 |
T |
C |
6: 86,926,520 (GRCm39) |
|
probably benign |
Het |
| Car15 |
A |
G |
16: 17,653,393 (GRCm39) |
F258S |
probably damaging |
Het |
| Cpd |
A |
G |
11: 76,737,071 (GRCm39) |
I241T |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,410,098 (GRCm39) |
D1758G |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,353,082 (GRCm39) |
|
probably benign |
Het |
| Eogt |
T |
A |
6: 97,120,988 (GRCm39) |
N75I |
possibly damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,481,919 (GRCm39) |
|
probably benign |
Het |
| Gdpd4 |
T |
C |
7: 97,664,161 (GRCm39) |
|
probably benign |
Het |
| Igbp1b |
C |
T |
6: 138,634,533 (GRCm39) |
E304K |
probably benign |
Het |
| Ighv1-63 |
A |
G |
12: 115,459,478 (GRCm39) |
S40P |
probably damaging |
Het |
| Intu |
T |
C |
3: 40,618,696 (GRCm39) |
V234A |
probably benign |
Het |
| Mars1 |
A |
T |
10: 127,141,387 (GRCm39) |
I334N |
probably damaging |
Het |
| Morc2a |
C |
A |
11: 3,638,175 (GRCm39) |
A967D |
probably damaging |
Het |
| Mtrf1l |
A |
T |
10: 5,764,090 (GRCm39) |
M291K |
probably benign |
Het |
| Muc19 |
A |
G |
15: 91,778,470 (GRCm39) |
|
noncoding transcript |
Het |
| Myl3 |
A |
T |
9: 110,597,045 (GRCm39) |
D135V |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,446,805 (GRCm39) |
L537M |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,232,403 (GRCm39) |
D324G |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,640,229 (GRCm39) |
|
probably benign |
Het |
| Prkab1 |
A |
T |
5: 116,162,169 (GRCm39) |
F47Y |
probably damaging |
Het |
| Prkag2 |
C |
T |
5: 25,226,963 (GRCm39) |
S98N |
probably benign |
Het |
| Rasgef1a |
T |
A |
6: 118,057,344 (GRCm39) |
V15D |
possibly damaging |
Het |
| Scgb1b19 |
T |
A |
7: 32,987,051 (GRCm39) |
C67* |
probably null |
Het |
| Slc25a15 |
T |
C |
8: 22,880,052 (GRCm39) |
D31G |
possibly damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,532,752 (GRCm39) |
|
probably null |
Het |
| Snx15 |
A |
T |
19: 6,169,915 (GRCm39) |
M331K |
probably benign |
Het |
| Ufd1 |
T |
C |
16: 18,639,864 (GRCm39) |
S123P |
probably damaging |
Het |
| Xpnpep3 |
T |
G |
15: 81,311,699 (GRCm39) |
V135G |
probably damaging |
Het |
|
| Other mutations in Tsks |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03006:Tsks
|
APN |
7 |
44,600,198 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03065:Tsks
|
APN |
7 |
44,592,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03091:Tsks
|
APN |
7 |
44,607,319 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0139:Tsks
|
UTSW |
7 |
44,603,883 (GRCm39) |
missense |
probably benign |
|
|
R0619:Tsks
|
UTSW |
7 |
44,600,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3709:Tsks
|
UTSW |
7 |
44,601,309 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4273:Tsks
|
UTSW |
7 |
44,607,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4982:Tsks
|
UTSW |
7 |
44,593,418 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5664:Tsks
|
UTSW |
7 |
44,603,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5846:Tsks
|
UTSW |
7 |
44,593,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6193:Tsks
|
UTSW |
7 |
44,603,263 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6567:Tsks
|
UTSW |
7 |
44,603,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7044:Tsks
|
UTSW |
7 |
44,593,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7255:Tsks
|
UTSW |
7 |
44,602,112 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7845:Tsks
|
UTSW |
7 |
44,603,168 (GRCm39) |
splice site |
probably null |
|
|
R8073:Tsks
|
UTSW |
7 |
44,607,305 (GRCm39) |
missense |
probably benign |
|
|
R8162:Tsks
|
UTSW |
7 |
44,603,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8307:Tsks
|
UTSW |
7 |
44,607,086 (GRCm39) |
missense |
|
|
|
R8340:Tsks
|
UTSW |
7 |
44,602,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8474:Tsks
|
UTSW |
7 |
44,600,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Tsks
|
UTSW |
7 |
44,592,694 (GRCm39) |
intron |
probably benign |
|
|
R9438:Tsks
|
UTSW |
7 |
44,607,095 (GRCm39) |
nonsense |
probably null |
|
|
R9623:Tsks
|
UTSW |
7 |
44,605,931 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2013-10-07 |
Incidental Mutation