Incidental Mutation 'R5147:Tssk4'
ID |
395170 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tssk4
|
Ensembl Gene |
ENSMUSG00000007591 |
Gene Name |
testis-specific serine kinase 4 |
Synonyms |
4933424F08Rik, 1700020B19Rik |
MMRRC Submission |
042731-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.620)
|
Stock # |
R5147 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
55887641-55889996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55888430 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 100
(I100V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154232
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007735]
[ENSMUST00000164809]
[ENSMUST00000226497]
[ENSMUST00000226591]
[ENSMUST00000227297]
[ENSMUST00000228041]
[ENSMUST00000228395]
|
AlphaFold |
Q9D411 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007735
AA Change: I100V
PolyPhen 2
Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000007735 Gene: ENSMUSG00000007591 AA Change: I100V
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
25 |
280 |
1.1e-54 |
PFAM |
Pfam:Pkinase_Tyr
|
25 |
280 |
7.9e-34 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164809
AA Change: I100V
PolyPhen 2
Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127728 Gene: ENSMUSG00000007591 AA Change: I100V
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
25 |
281 |
4e-56 |
PFAM |
Pfam:Pkinase_Tyr
|
25 |
281 |
3.3e-35 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226497
AA Change: I100V
PolyPhen 2
Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226591
AA Change: I100V
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227297
AA Change: I100V
PolyPhen 2
Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227568
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228007
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228041
AA Change: I100V
PolyPhen 2
Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228395
AA Change: I100V
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the testis-specific serine/threonine kinase family. The encoded protein is thought to be involved in spermatogenesis via stimulation of the CREB/CRE responsive pathway through phosphorylation of the cAMP responsive element binding protein transcription factor. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,851,149 (GRCm39) |
Y2121H |
probably benign |
Het |
Adgrf2 |
A |
G |
17: 43,021,574 (GRCm39) |
Y417H |
probably damaging |
Het |
Ap5z1 |
A |
C |
5: 142,452,265 (GRCm39) |
D66A |
probably benign |
Het |
Cachd1 |
T |
A |
4: 100,821,688 (GRCm39) |
Y422N |
probably damaging |
Het |
Cfap54 |
C |
T |
10: 92,773,700 (GRCm39) |
G114D |
probably benign |
Het |
Cgref1 |
C |
T |
5: 31,091,049 (GRCm39) |
G255E |
probably benign |
Het |
Cyp2a22 |
A |
C |
7: 26,635,750 (GRCm39) |
L271R |
probably damaging |
Het |
Dcp2 |
G |
T |
18: 44,550,662 (GRCm39) |
E379* |
probably null |
Het |
Fhl3 |
T |
A |
4: 124,601,724 (GRCm39) |
D277E |
probably benign |
Het |
Gm19684 |
C |
T |
17: 36,439,411 (GRCm39) |
V190M |
probably damaging |
Het |
Hpse |
T |
C |
5: 100,867,375 (GRCm39) |
D29G |
probably benign |
Het |
Il31 |
T |
C |
5: 123,620,121 (GRCm39) |
|
probably benign |
Het |
Ilk |
T |
C |
7: 105,391,774 (GRCm39) |
C422R |
possibly damaging |
Het |
Itga1 |
T |
G |
13: 115,121,678 (GRCm39) |
D777A |
possibly damaging |
Het |
Kank3 |
A |
G |
17: 34,041,176 (GRCm39) |
D556G |
probably damaging |
Het |
Lrit3 |
A |
G |
3: 129,597,574 (GRCm39) |
S36P |
possibly damaging |
Het |
Magi1 |
C |
T |
6: 93,724,248 (GRCm39) |
E256K |
probably damaging |
Het |
Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
Mymk |
C |
T |
2: 26,952,299 (GRCm39) |
M148I |
probably benign |
Het |
Nlrp12 |
T |
A |
7: 3,290,003 (GRCm39) |
I170F |
possibly damaging |
Het |
Odad3 |
T |
C |
9: 21,906,158 (GRCm39) |
E260G |
probably benign |
Het |
Or5al7 |
A |
T |
2: 85,992,378 (GRCm39) |
I305K |
possibly damaging |
Het |
Or5an11 |
T |
A |
19: 12,246,268 (GRCm39) |
S225T |
probably damaging |
Het |
Pkd1l1 |
G |
A |
11: 8,799,003 (GRCm39) |
T1803I |
possibly damaging |
Het |
Ppp2r2b |
C |
T |
18: 42,778,942 (GRCm39) |
V398I |
probably benign |
Het |
Ppp2r5e |
T |
A |
12: 75,516,544 (GRCm39) |
R214S |
probably damaging |
Het |
Prss16 |
T |
C |
13: 22,190,264 (GRCm39) |
D298G |
possibly damaging |
Het |
Qprt |
G |
A |
7: 126,707,622 (GRCm39) |
R189W |
probably damaging |
Het |
Rara |
C |
T |
11: 98,841,550 (GRCm39) |
S36F |
probably benign |
Het |
Rasal2 |
A |
G |
1: 157,003,264 (GRCm39) |
V465A |
probably damaging |
Het |
Slc22a1 |
C |
T |
17: 12,869,838 (GRCm39) |
G508R |
probably damaging |
Het |
Slco2a1 |
C |
A |
9: 102,927,468 (GRCm39) |
F120L |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,062,340 (GRCm39) |
L864* |
probably null |
Het |
Vgll4 |
A |
G |
6: 114,867,576 (GRCm39) |
|
probably null |
Het |
Vmn1r65 |
T |
G |
7: 6,011,818 (GRCm39) |
I139L |
probably benign |
Het |
Vps13b |
C |
T |
15: 35,456,824 (GRCm39) |
P757S |
probably benign |
Het |
Ythdc2 |
G |
A |
18: 44,977,359 (GRCm39) |
G385E |
probably damaging |
Het |
|
Other mutations in Tssk4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01627:Tssk4
|
APN |
14 |
55,888,010 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02943:Tssk4
|
APN |
14 |
55,889,023 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03082:Tssk4
|
APN |
14 |
55,888,518 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03281:Tssk4
|
APN |
14 |
55,887,885 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0201:Tssk4
|
UTSW |
14 |
55,889,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R0201:Tssk4
|
UTSW |
14 |
55,889,016 (GRCm39) |
nonsense |
probably null |
|
R1655:Tssk4
|
UTSW |
14 |
55,889,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R1660:Tssk4
|
UTSW |
14 |
55,888,029 (GRCm39) |
missense |
probably null |
0.90 |
R1743:Tssk4
|
UTSW |
14 |
55,888,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R2103:Tssk4
|
UTSW |
14 |
55,888,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R3431:Tssk4
|
UTSW |
14 |
55,889,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R3432:Tssk4
|
UTSW |
14 |
55,889,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R4113:Tssk4
|
UTSW |
14 |
55,887,830 (GRCm39) |
missense |
probably benign |
0.00 |
R4870:Tssk4
|
UTSW |
14 |
55,889,272 (GRCm39) |
missense |
probably benign |
0.38 |
R4957:Tssk4
|
UTSW |
14 |
55,889,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R6785:Tssk4
|
UTSW |
14 |
55,887,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R6917:Tssk4
|
UTSW |
14 |
55,889,864 (GRCm39) |
missense |
probably benign |
0.13 |
R7748:Tssk4
|
UTSW |
14 |
55,888,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R9043:Tssk4
|
UTSW |
14 |
55,889,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R9189:Tssk4
|
UTSW |
14 |
55,887,904 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Tssk4
|
UTSW |
14 |
55,888,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCAAATATTCAGCTCACTATCC -3'
(R):5'- TTAAGATTCCCAAAGCCCAGTC -3'
Sequencing Primer
(F):5'- AATATTCAGCTCACTATCCAATGTCC -3'
(R):5'- AAAGCCCAGTCCGGTGAC -3'
|
Posted On |
2016-06-21 |