Incidental Mutation 'R4113:Tssk4'
| ID |
314520 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tssk4
|
| Ensembl Gene |
ENSMUSG00000007591 |
| Gene Name |
testis-specific serine kinase 4 |
| Synonyms |
4933424F08Rik, 1700020B19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.620)
|
| Stock # |
R4113 (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 55887830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 9
(T9A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007735]
[ENSMUST00000164809]
[ENSMUST00000226497]
[ENSMUST00000226591]
[ENSMUST00000227297]
[ENSMUST00000228041]
[ENSMUST00000228395]
|
| AlphaFold |
Q9D411 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007735
AA Change: T9A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000007735
Gene: ENSMUSG00000007591
AA Change: T9A
| 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 benign
Transcript: ENSMUST00000164809
AA Change: T9A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127728
Gene: ENSMUSG00000007591
AA Change: T9A
| 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: T9A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226591
AA Change: T9A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227297
AA Change: T9A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227568
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228007
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228041
AA Change: T9A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228395
AA Change: T9A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
| BC024139 |
A |
G |
15: 76,005,827 (GRCm39) |
M458T |
probably benign |
Het |
| Casp2 |
G |
A |
6: 42,244,828 (GRCm39) |
A76T |
probably damaging |
Het |
| Catsper3 |
A |
G |
13: 55,934,183 (GRCm39) |
K35E |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,911,332 (GRCm39) |
L34P |
probably damaging |
Het |
| Dcaf13 |
T |
A |
15: 38,993,615 (GRCm39) |
I236N |
probably damaging |
Het |
| Dip2c |
G |
T |
13: 9,687,137 (GRCm39) |
G1254C |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,414,722 (GRCm39) |
L41P |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,003,420 (GRCm39) |
K514R |
possibly damaging |
Het |
| Dnajb12 |
T |
A |
10: 59,730,136 (GRCm39) |
S270R |
possibly damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Eya4 |
G |
T |
10: 23,031,849 (GRCm39) |
S235Y |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Gdf3 |
A |
G |
6: 122,584,016 (GRCm39) |
I117T |
probably damaging |
Het |
| Gm5611 |
T |
A |
9: 16,941,989 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c4 |
G |
A |
2: 28,717,567 (GRCm39) |
T771I |
probably damaging |
Het |
| Hrh3 |
C |
A |
2: 179,744,643 (GRCm39) |
R99L |
possibly damaging |
Het |
| Hyls1 |
T |
A |
9: 35,472,714 (GRCm39) |
Y234F |
probably damaging |
Het |
| Irak1bp1 |
T |
C |
9: 82,728,728 (GRCm39) |
S220P |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,071,698 (GRCm39) |
V862I |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Or14a258 |
G |
A |
7: 86,035,733 (GRCm39) |
T45M |
possibly damaging |
Het |
| Or4b12 |
A |
T |
2: 90,096,684 (GRCm39) |
L30H |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,004,953 (GRCm39) |
D927G |
probably damaging |
Het |
| Prelid3a |
T |
C |
18: 67,605,967 (GRCm39) |
Y25H |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,032,808 (GRCm39) |
D1015G |
probably damaging |
Het |
| Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
| Riox2 |
C |
T |
16: 59,312,257 (GRCm39) |
L465F |
probably benign |
Het |
| Sec31b |
G |
T |
19: 44,512,968 (GRCm39) |
T507N |
possibly damaging |
Het |
| Stab1 |
C |
T |
14: 30,890,436 (GRCm39) |
R5Q |
probably damaging |
Het |
| Stmn3 |
T |
C |
2: 180,949,089 (GRCm39) |
K135E |
possibly damaging |
Het |
| Synj2 |
G |
A |
17: 6,058,240 (GRCm39) |
G243S |
probably benign |
Het |
| Tasor |
C |
T |
14: 27,181,918 (GRCm39) |
R483* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tshz2 |
C |
A |
2: 169,727,450 (GRCm39) |
P213Q |
probably benign |
Het |
| Ube4a |
T |
A |
9: 44,860,247 (GRCm39) |
I272F |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,025,629 (GRCm39) |
C339R |
probably damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,315,691 (GRCm39) |
D125G |
probably benign |
Het |
| Yap1 |
A |
T |
9: 7,938,432 (GRCm39) |
*358K |
probably null |
Het |
| Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
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 |
|
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'- TCCAAGTTCTTAGTGAAGGGC -3'
(R):5'- TTCTGACCTGTATCTCACGTGG -3'
Sequencing Primer
(F):5'- TCTTAGTGAAGGGCCGAGC -3'
(R):5'- ACCTGTATCTCACGTGGTAGGAAC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation