Incidental Mutation 'R3431:Tssk4'
| ID |
268129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tssk4
|
| Ensembl Gene |
ENSMUSG00000007591 |
| Gene Name |
testis-specific serine kinase 4 |
| Synonyms |
4933424F08Rik, 1700020B19Rik |
| MMRRC Submission |
040649-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.620)
|
| Stock # |
R3431 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55887641-55889996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55889152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 226
(N226S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154783
(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: N226S
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000007735
Gene: ENSMUSG00000007591
AA Change: N226S
| 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 |
probably damaging
Transcript: ENSMUST00000164809
AA Change: N226S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127728
Gene: ENSMUSG00000007591
AA Change: N226S
| 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 damaging
Transcript: ENSMUST00000226497
AA Change: N222S
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226591
AA Change: N216S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227568
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228041
AA Change: N216S
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228395
AA Change: N226S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.2216 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (41/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,746,560 (GRCm39) |
H140R |
possibly damaging |
Het |
| Adamts3 |
A |
G |
5: 89,855,312 (GRCm39) |
|
probably benign |
Het |
| Apob |
T |
G |
12: 8,060,778 (GRCm39) |
F3054V |
probably damaging |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Calcb |
A |
T |
7: 114,319,064 (GRCm39) |
R30W |
probably damaging |
Het |
| Cbl |
T |
C |
9: 44,062,743 (GRCm39) |
*914W |
probably null |
Het |
| Chd4 |
A |
G |
6: 125,097,523 (GRCm39) |
|
probably benign |
Het |
| Clec4a2 |
A |
T |
6: 123,116,370 (GRCm39) |
|
probably null |
Het |
| Crb2 |
T |
A |
2: 37,682,229 (GRCm39) |
V870E |
probably benign |
Het |
| Cyp2c39 |
A |
G |
19: 39,525,306 (GRCm39) |
E203G |
probably damaging |
Het |
| Dhrs7 |
A |
T |
12: 72,711,501 (GRCm39) |
L12Q |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,295,413 (GRCm39) |
Y1382C |
probably benign |
Het |
| Efs |
C |
T |
14: 55,157,681 (GRCm39) |
R117Q |
probably damaging |
Het |
| Evl |
T |
C |
12: 108,614,567 (GRCm39) |
|
probably benign |
Het |
| Fbxo16 |
T |
C |
14: 65,531,233 (GRCm39) |
F46L |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,822,354 (GRCm39) |
E6029G |
possibly damaging |
Het |
| Gm20775 |
A |
T |
Y: 10,641,956 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4924 |
T |
A |
10: 82,214,864 (GRCm39) |
Y887* |
probably null |
Het |
| H60c |
G |
T |
10: 3,210,382 (GRCm39) |
R56S |
possibly damaging |
Het |
| Hbq1a |
T |
G |
11: 32,250,715 (GRCm39) |
S133A |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,277,948 (GRCm39) |
E92G |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,892,843 (GRCm39) |
E46D |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mmp21 |
T |
C |
7: 133,280,479 (GRCm39) |
T164A |
probably benign |
Het |
| Mthfd2 |
T |
C |
6: 83,288,330 (GRCm39) |
R142G |
probably benign |
Het |
| Mup4 |
T |
G |
4: 59,959,192 (GRCm39) |
|
probably null |
Het |
| Npas3 |
A |
T |
12: 54,115,832 (GRCm39) |
Q900L |
probably damaging |
Het |
| Nr1h3 |
T |
C |
2: 91,022,205 (GRCm39) |
D141G |
probably damaging |
Het |
| Rap2a |
G |
T |
14: 120,741,170 (GRCm39) |
A158S |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 89,113,695 (GRCm39) |
T1705A |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,486,876 (GRCm39) |
V3834E |
probably damaging |
Het |
| Taf5 |
A |
C |
19: 47,064,272 (GRCm39) |
K405T |
probably damaging |
Het |
| Tbc1d19 |
T |
C |
5: 54,005,548 (GRCm39) |
|
probably benign |
Het |
| Tmem232 |
A |
T |
17: 65,572,297 (GRCm39) |
|
probably null |
Het |
| Tulp4 |
C |
A |
17: 6,257,239 (GRCm39) |
S311R |
probably benign |
Het |
| Uggt1 |
C |
A |
1: 36,249,140 (GRCm39) |
E267* |
probably null |
Het |
| Usp34 |
T |
C |
11: 23,320,466 (GRCm39) |
I917T |
possibly 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 |
|
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 |
|
R5147:Tssk4
|
UTSW |
14 |
55,888,430 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
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'- GAGAACCTGTTGCTGGACAAG -3'
(R):5'- TGACAAAAGCCAACCCTGGG -3'
Sequencing Primer
(F):5'- CAAGCGGGAGAATGTGAAGATATC -3'
(R):5'- GGAAGGCCTAAATTTGGTATTTCC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation