Incidental Mutation 'R3432:Tssk4'
| ID |
266251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tssk4
|
| Ensembl Gene |
ENSMUSG00000007591 |
| Gene Name |
testis-specific serine kinase 4 |
| Synonyms |
4933424F08Rik, 1700020B19Rik |
| MMRRC Submission |
040650-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.620)
|
| Stock # |
R3432 (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: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
98% (44/45) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
G |
A |
1: 125,321,776 (GRCm39) |
P405S |
probably damaging |
Het |
| Adamts3 |
A |
G |
5: 89,855,312 (GRCm39) |
|
probably benign |
Het |
| Angptl2 |
T |
C |
2: 33,118,814 (GRCm39) |
V196A |
probably benign |
Het |
| Aoc1 |
A |
T |
6: 48,882,778 (GRCm39) |
H240L |
probably damaging |
Het |
| Arsj |
A |
T |
3: 126,158,624 (GRCm39) |
T68S |
probably benign |
Het |
| Atp8b3 |
T |
C |
10: 80,362,014 (GRCm39) |
K708E |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,448,901 (GRCm39) |
V89E |
probably benign |
Het |
| Cpt1b |
T |
C |
15: 89,307,944 (GRCm39) |
E205G |
possibly damaging |
Het |
| Dhrs7c |
C |
T |
11: 67,700,699 (GRCm39) |
T82I |
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 |
| Fam89b |
A |
T |
19: 5,781,761 (GRCm39) |
|
probably null |
Het |
| Fbxo16 |
T |
C |
14: 65,531,233 (GRCm39) |
F46L |
probably damaging |
Het |
| Glp1r |
T |
A |
17: 31,143,531 (GRCm39) |
L189H |
probably damaging |
Het |
| Gstp1 |
G |
A |
19: 4,086,695 (GRCm39) |
T110I |
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 |
| Il18r1 |
C |
T |
1: 40,526,249 (GRCm39) |
T265M |
probably damaging |
Het |
| Lpp |
T |
C |
16: 24,708,636 (GRCm39) |
V447A |
probably benign |
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 |
| Mmel1 |
C |
T |
4: 154,969,955 (GRCm39) |
|
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,170,283 (GRCm39) |
E471G |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,922,003 (GRCm39) |
L317P |
probably damaging |
Het |
| Or8b57 |
A |
T |
9: 40,003,845 (GRCm39) |
M139K |
probably damaging |
Het |
| Psg18 |
A |
G |
7: 18,083,096 (GRCm39) |
V232A |
possibly damaging |
Het |
| Ptprt |
T |
C |
2: 161,769,449 (GRCm39) |
E472G |
probably damaging |
Het |
| Rap2a |
G |
T |
14: 120,741,170 (GRCm39) |
A158S |
possibly damaging |
Het |
| Rbm15 |
A |
T |
3: 107,237,993 (GRCm39) |
S802T |
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,996,463 (GRCm39) |
I470V |
possibly damaging |
Het |
| Serpinb1a |
T |
C |
13: 33,026,842 (GRCm39) |
T367A |
possibly damaging |
Het |
| Sirpb1a |
A |
G |
3: 15,491,447 (GRCm39) |
W7R |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Taf5 |
A |
C |
19: 47,064,272 (GRCm39) |
K405T |
probably damaging |
Het |
| Tbc1d19 |
T |
C |
5: 54,005,548 (GRCm39) |
|
probably benign |
Het |
| Trim58 |
T |
C |
11: 58,537,787 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
C |
A |
1: 36,249,140 (GRCm39) |
E267* |
probably null |
Het |
| Zdhhc23 |
T |
A |
16: 43,794,533 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
G |
A |
18: 84,226,871 (GRCm39) |
A2246V |
probably damaging |
Het |
| Zfp872 |
C |
T |
9: 22,111,750 (GRCm39) |
R410* |
probably null |
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 |
|
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'- AGTTGGAGAACCTGTTGCTG -3'
(R):5'- TGACAAAAGCCAACCCTGGG -3'
Sequencing Primer
(F):5'- AGAACCTGTTGCTGGACAAG -3'
(R):5'- GGAAGGCCTAAATTTGGTATTTCC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation