Incidental Mutation 'R7044:Tsks'
| ID |
547208 |
| 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 |
045143-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44592628-44607459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44593216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 61
(R61W)
|
| 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: R61W
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000079122
Gene: ENSMUSG00000059891
AA Change: R61W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TSKS
|
26 |
525 |
5.7e-281 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120929
AA Change: R61W
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112673
Gene: ENSMUSG00000059891
AA Change: R61W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TSKS
|
26 |
585 |
8.1e-297 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207719
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (40/41) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd6 |
T |
A |
4: 32,815,260 (GRCm39) |
Q448L |
possibly damaging |
Het |
| Appl1 |
A |
G |
14: 26,650,634 (GRCm39) |
S513P |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,881,134 (GRCm39) |
K1066* |
probably null |
Het |
| Ckap5 |
T |
C |
2: 91,407,946 (GRCm39) |
I824T |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,651,361 (GRCm39) |
D1169N |
possibly damaging |
Het |
| Ctbp2 |
T |
C |
7: 132,616,831 (GRCm39) |
R35G |
possibly damaging |
Het |
| Dcdc2c |
T |
C |
12: 28,520,493 (GRCm39) |
|
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,301,634 (GRCm39) |
|
probably null |
Het |
| Fat4 |
G |
C |
3: 39,064,959 (GRCm39) |
A4972P |
probably benign |
Het |
| Fat4 |
C |
T |
3: 39,064,960 (GRCm39) |
A4972V |
probably benign |
Het |
| Fbxl8 |
T |
A |
8: 105,993,647 (GRCm39) |
M1K |
probably null |
Het |
| Glyat |
T |
C |
19: 12,627,629 (GRCm39) |
S75P |
probably benign |
Het |
| Gm3543 |
T |
A |
14: 41,802,023 (GRCm39) |
I154F |
probably damaging |
Het |
| Gm4565 |
T |
A |
7: 22,282,795 (GRCm39) |
M8L |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,240,616 (GRCm39) |
Q269R |
probably benign |
Het |
| Hjv |
C |
A |
3: 96,434,790 (GRCm39) |
H176Q |
possibly damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,060 (GRCm39) |
H483R |
possibly damaging |
Het |
| Il25 |
G |
A |
14: 55,170,615 (GRCm39) |
A63T |
probably benign |
Het |
| Krt27 |
T |
A |
11: 99,237,640 (GRCm39) |
N366I |
probably benign |
Het |
| Mfge8 |
A |
G |
7: 78,792,268 (GRCm39) |
V219A |
probably benign |
Het |
| Nrbp1 |
T |
C |
5: 31,407,290 (GRCm39) |
V373A |
probably damaging |
Het |
| Or4c100 |
A |
G |
2: 88,356,830 (GRCm39) |
N301S |
probably benign |
Het |
| Otulinl |
A |
G |
15: 27,657,321 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
A |
G |
14: 88,706,607 (GRCm39) |
I231T |
probably damaging |
Het |
| Pfkp |
A |
G |
13: 6,631,603 (GRCm39) |
W151R |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,286,013 (GRCm39) |
I1084T |
probably benign |
Het |
| Poteg |
T |
C |
8: 27,939,923 (GRCm39) |
C27R |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,044,345 (GRCm39) |
V1266M |
probably damaging |
Het |
| Rpa1 |
T |
C |
11: 75,203,628 (GRCm39) |
D358G |
probably damaging |
Het |
| Slx9 |
T |
C |
10: 77,350,226 (GRCm39) |
D35G |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,259,965 (GRCm39) |
S495P |
probably damaging |
Het |
| Surf6 |
A |
G |
2: 26,789,368 (GRCm39) |
I123T |
probably damaging |
Het |
| Sybu |
A |
T |
15: 44,541,091 (GRCm39) |
S324T |
possibly damaging |
Het |
| Trim3 |
A |
T |
7: 105,267,421 (GRCm39) |
S319R |
probably damaging |
Het |
| Trmt11 |
A |
G |
10: 30,466,930 (GRCm39) |
F72L |
probably benign |
Het |
| Ube2k |
T |
C |
5: 65,738,772 (GRCm39) |
V36A |
possibly damaging |
Het |
| Ube3a |
T |
C |
7: 58,938,161 (GRCm39) |
V688A |
probably damaging |
Het |
| Vegfc |
A |
G |
8: 54,610,080 (GRCm39) |
K79E |
possibly damaging |
Het |
| Vmn1r77 |
G |
A |
7: 11,775,761 (GRCm39) |
R179Q |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,134,629 (GRCm39) |
F16I |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,841,248 (GRCm39) |
|
probably benign |
Het |
| Zfp600 |
C |
T |
4: 146,131,892 (GRCm39) |
Q187* |
probably null |
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 |
|
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'- ATGGCCTACAGCAAAGCATG -3'
(R):5'- TCTGTGATGTCAGGGTCCTC -3'
Sequencing Primer
(F):5'- GCATTACGGAGGTGGTAGG -3'
(R):5'- ATGTCAGGGTCCTCTGGAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation