Incidental Mutation 'R8340:Tsks'
ID |
644835 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsks
|
Ensembl Gene |
ENSMUSG00000059891 |
Gene Name |
testis-specific serine kinase substrate |
Synonyms |
clone 4, Tsks, Tssks1, Stk22s1 |
MMRRC Submission |
067864-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8340 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
44592628-44607459 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 44602144 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 287
(R287W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112673
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080233]
[ENSMUST00000120929]
[ENSMUST00000207719]
|
AlphaFold |
O54887 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080233
AA Change: R278W
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000079122 Gene: ENSMUSG00000059891 AA Change: R278W
Domain | Start | End | E-Value | Type |
Pfam:TSKS
|
26 |
525 |
5.7e-281 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120929
AA Change: R287W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000112673 Gene: ENSMUSG00000059891 AA Change: R287W
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110040N11Rik |
C |
T |
7: 81,435,839 (GRCm39) |
V91M |
probably damaging |
Het |
Actr2 |
A |
G |
11: 20,044,435 (GRCm39) |
V57A |
possibly damaging |
Het |
Aoah |
A |
G |
13: 21,184,112 (GRCm39) |
Y392C |
probably damaging |
Het |
Armc6 |
T |
G |
8: 70,673,502 (GRCm39) |
N407T |
probably damaging |
Het |
BC024139 |
A |
G |
15: 76,005,670 (GRCm39) |
V484A |
probably benign |
Het |
Bdp1 |
A |
G |
13: 100,202,476 (GRCm39) |
V716A |
possibly damaging |
Het |
C2cd2 |
T |
C |
16: 97,670,013 (GRCm39) |
E550G |
probably benign |
Het |
Cbl |
A |
G |
9: 44,070,297 (GRCm39) |
S512P |
possibly damaging |
Het |
Chac2 |
C |
G |
11: 30,927,511 (GRCm39) |
G136A |
probably damaging |
Het |
Crhr2 |
C |
T |
6: 55,079,831 (GRCm39) |
V170M |
probably damaging |
Het |
Cyp2c54 |
T |
A |
19: 40,060,831 (GRCm39) |
D104V |
possibly damaging |
Het |
Dhtkd1 |
T |
A |
2: 5,924,408 (GRCm39) |
S402C |
probably damaging |
Het |
Efcab3 |
A |
G |
11: 104,876,856 (GRCm39) |
I4099V |
unknown |
Het |
Etv3 |
A |
G |
3: 87,443,856 (GRCm39) |
D480G |
possibly damaging |
Het |
Fam186b |
A |
T |
15: 99,177,595 (GRCm39) |
I577K |
probably benign |
Het |
Foxe1 |
T |
C |
4: 46,344,437 (GRCm39) |
Y82H |
possibly damaging |
Het |
Gsdma |
T |
A |
11: 98,557,421 (GRCm39) |
V120E |
probably benign |
Het |
Insig2 |
A |
T |
1: 121,234,946 (GRCm39) |
S153R |
probably damaging |
Het |
Isx |
T |
A |
8: 75,616,688 (GRCm39) |
I105N |
probably damaging |
Het |
Klra4 |
T |
A |
6: 130,042,257 (GRCm39) |
E3D |
probably benign |
Het |
Mkln1 |
G |
T |
6: 31,409,878 (GRCm39) |
R172L |
possibly damaging |
Het |
Myrf |
A |
T |
19: 10,192,705 (GRCm39) |
S605T |
probably benign |
Het |
Nell1 |
T |
A |
7: 49,870,021 (GRCm39) |
D232E |
probably damaging |
Het |
Nemf |
T |
G |
12: 69,400,659 (GRCm39) |
T139P |
possibly damaging |
Het |
Nrdc |
A |
C |
4: 108,858,351 (GRCm39) |
K108Q |
probably damaging |
Het |
Or10c1 |
G |
T |
17: 37,522,075 (GRCm39) |
T223N |
possibly damaging |
Het |
Or14j3 |
T |
C |
17: 37,901,034 (GRCm39) |
D70G |
probably damaging |
Het |
Or3a10 |
G |
T |
11: 73,935,851 (GRCm39) |
P83Q |
probably damaging |
Het |
Pcnx4 |
T |
C |
12: 72,613,851 (GRCm39) |
S599P |
probably damaging |
Het |
Plscr2 |
A |
G |
9: 92,173,130 (GRCm39) |
N224S |
probably benign |
Het |
Poln |
A |
G |
5: 34,307,118 (GRCm39) |
S28P |
probably damaging |
Het |
Prr36 |
A |
G |
8: 4,264,224 (GRCm39) |
S481P |
unknown |
Het |
Scrn1 |
G |
A |
6: 54,511,518 (GRCm39) |
A74V |
possibly damaging |
Het |
Slc22a22 |
T |
A |
15: 57,127,086 (GRCm39) |
|
probably null |
Het |
Srpra |
A |
G |
9: 35,127,102 (GRCm39) |
D592G |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,926,036 (GRCm39) |
N915D |
probably damaging |
Het |
Trpm2 |
T |
A |
10: 77,759,458 (GRCm39) |
K1109* |
probably null |
Het |
Ush1c |
T |
G |
7: 45,860,630 (GRCm39) |
M456L |
probably benign |
Het |
Usp38 |
A |
G |
8: 81,712,031 (GRCm39) |
V668A |
probably benign |
Het |
Vmn2r117 |
T |
A |
17: 23,679,511 (GRCm39) |
Q571L |
probably benign |
Het |
Vmn2r13 |
A |
T |
5: 109,322,006 (GRCm39) |
D230E |
probably benign |
Het |
Vmn2r25 |
C |
T |
6: 123,829,972 (GRCm39) |
G60S |
probably benign |
Het |
Vmn2r82 |
A |
G |
10: 79,217,036 (GRCm39) |
D456G |
probably benign |
Het |
Zfp738 |
A |
C |
13: 67,819,231 (GRCm39) |
H253Q |
probably damaging |
Het |
|
Other mutations in Tsks |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01292:Tsks
|
APN |
7 |
44,601,982 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTAAGATACCTCCAGCAGC -3'
(R):5'- GGATTTACTCTGTCCGGTCC -3'
Sequencing Primer
(F):5'- CAACTGCAGGATGAGACGCC -3'
(R):5'- AGGCTCCAAGCTCCTCCTAG -3'
|
Posted On |
2020-09-02 |