Incidental Mutation 'R6567:Tsks'
ID |
522743 |
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 |
044691-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6567 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44592628-44607459 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44603305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 369
(Q369L)
|
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: Q360L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000079122 Gene: ENSMUSG00000059891 AA Change: Q360L
Domain | Start | End | E-Value | Type |
Pfam:TSKS
|
26 |
525 |
5.7e-281 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120929
AA Change: Q369L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000112673 Gene: ENSMUSG00000059891 AA Change: Q369L
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: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (32/32) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,838,950 (GRCm39) |
T546A |
probably benign |
Het |
Ahnak |
G |
T |
19: 8,986,170 (GRCm39) |
V2485L |
probably benign |
Het |
C2cd5 |
T |
C |
6: 142,976,974 (GRCm39) |
I722M |
possibly damaging |
Het |
Clca4b |
A |
G |
3: 144,638,100 (GRCm39) |
I54T |
possibly damaging |
Het |
Dennd2c |
C |
T |
3: 103,039,335 (GRCm39) |
A161V |
probably benign |
Het |
Dmxl1 |
T |
C |
18: 49,992,246 (GRCm39) |
Y331H |
probably damaging |
Het |
Dnaaf11 |
C |
T |
15: 66,310,228 (GRCm39) |
V347I |
probably benign |
Het |
Dnajc2 |
G |
A |
5: 21,971,676 (GRCm39) |
R247W |
probably damaging |
Het |
Dock3 |
T |
C |
9: 106,773,946 (GRCm39) |
T380A |
probably benign |
Het |
Evc2 |
T |
C |
5: 37,576,508 (GRCm39) |
V1044A |
probably benign |
Het |
Ints2 |
T |
C |
11: 86,117,487 (GRCm39) |
H745R |
probably benign |
Het |
Kcnh1 |
T |
A |
1: 191,959,412 (GRCm39) |
M322K |
probably benign |
Het |
Mmp19 |
A |
G |
10: 128,632,275 (GRCm39) |
T191A |
probably benign |
Het |
Mms19 |
A |
G |
19: 41,938,206 (GRCm39) |
|
probably null |
Het |
Mtcl3 |
G |
T |
10: 29,023,279 (GRCm39) |
V209F |
probably benign |
Het |
Ncapd3 |
T |
C |
9: 26,978,300 (GRCm39) |
I833T |
possibly damaging |
Het |
Nif3l1 |
T |
A |
1: 58,494,789 (GRCm39) |
C253S |
probably benign |
Het |
Or52e2 |
A |
T |
7: 102,804,135 (GRCm39) |
I273K |
possibly damaging |
Het |
Pate5 |
T |
A |
9: 35,750,411 (GRCm39) |
Y87F |
probably benign |
Het |
Pcsk1 |
T |
A |
13: 75,278,189 (GRCm39) |
I584N |
probably damaging |
Het |
Pms2 |
T |
C |
5: 143,865,786 (GRCm39) |
V50A |
probably damaging |
Het |
Rptor |
A |
G |
11: 119,786,838 (GRCm39) |
I1268V |
probably benign |
Het |
Scap |
C |
T |
9: 110,212,630 (GRCm39) |
R1021W |
probably damaging |
Het |
Sos1 |
A |
T |
17: 80,740,932 (GRCm39) |
Y618N |
probably damaging |
Het |
Tesk2 |
C |
T |
4: 116,649,361 (GRCm39) |
A157V |
probably damaging |
Het |
Tm6sf2 |
C |
A |
8: 70,528,174 (GRCm39) |
H108N |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,176,589 (GRCm39) |
V287A |
probably benign |
Het |
Vmn2r58 |
T |
C |
7: 41,514,673 (GRCm39) |
T99A |
probably benign |
Het |
Wbp11 |
C |
T |
6: 136,797,537 (GRCm39) |
S294N |
probably benign |
Het |
Zfp608 |
T |
C |
18: 55,030,628 (GRCm39) |
Y1104C |
probably damaging |
Het |
Zfp759 |
T |
A |
13: 67,287,150 (GRCm39) |
S234T |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACGATAGCATGCATAGTCAAC -3'
(R):5'- ATACTATAGACCTGCACGGCC -3'
Sequencing Primer
(F):5'- GCATGCATAGTCAACTCTTATACC -3'
(R):5'- ATTCCCTACGGGTGGATCTCAAG -3'
|
Posted On |
2018-06-06 |