Incidental Mutation 'IGL03281:Tssk4'
ID |
415597 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tssk4
|
Ensembl Gene |
ENSMUSG00000007591 |
Gene Name |
testis-specific serine kinase 4 |
Synonyms |
4933424F08Rik, 1700020B19Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.756)
|
Stock # |
IGL03281
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
55887641-55889996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55887885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 27
(V27A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154143
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007735]
[ENSMUST00000164809]
[ENSMUST00000226497]
[ENSMUST00000226591]
[ENSMUST00000227297]
[ENSMUST00000228395]
[ENSMUST00000228041]
|
AlphaFold |
Q9D411 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000007735
AA Change: V27A
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000007735 Gene: ENSMUSG00000007591 AA Change: V27A
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: V27A
PolyPhen 2
Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127728 Gene: ENSMUSG00000007591 AA Change: V27A
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
25 |
281 |
4e-56 |
PFAM |
Pfam:Pkinase_Tyr
|
25 |
281 |
3.3e-35 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226497
AA Change: V27A
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226591
AA Change: V27A
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227297
AA Change: V27A
PolyPhen 2
Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227568
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228007
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228395
AA Change: V27A
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228041
AA Change: V27A
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
Coding Region Coverage |
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
G |
A |
11: 58,771,601 (GRCm39) |
R361H |
probably benign |
Het |
Abcd2 |
G |
T |
15: 91,035,876 (GRCm39) |
T663K |
probably damaging |
Het |
Btbd8 |
A |
T |
5: 107,651,742 (GRCm39) |
T212S |
probably benign |
Het |
Bud23 |
C |
T |
5: 135,092,741 (GRCm39) |
R28H |
probably benign |
Het |
Celsr2 |
T |
C |
3: 108,320,256 (GRCm39) |
Y852C |
probably damaging |
Het |
Dll1 |
C |
A |
17: 15,593,866 (GRCm39) |
R167L |
probably benign |
Het |
Hmgxb4 |
A |
G |
8: 75,750,790 (GRCm39) |
T538A |
probably damaging |
Het |
Hrh4 |
T |
C |
18: 13,155,526 (GRCm39) |
V355A |
possibly damaging |
Het |
Hrnr |
A |
T |
3: 93,230,158 (GRCm39) |
E132V |
probably benign |
Het |
Ighv7-1 |
A |
T |
12: 113,860,571 (GRCm39) |
|
probably benign |
Het |
Kcnu1 |
A |
T |
8: 26,382,105 (GRCm39) |
Q485L |
probably null |
Het |
Lrp1b |
T |
A |
2: 40,615,526 (GRCm39) |
M3626L |
probably benign |
Het |
Magea6 |
G |
T |
X: 153,707,623 (GRCm39) |
C144* |
probably null |
Het |
Map1a |
G |
T |
2: 121,135,541 (GRCm39) |
R1881L |
probably damaging |
Het |
Naip2 |
T |
A |
13: 100,298,128 (GRCm39) |
Y636F |
probably damaging |
Het |
Or12j5 |
T |
A |
7: 140,083,713 (GRCm39) |
I220F |
probably damaging |
Het |
Or6c2 |
T |
A |
10: 129,362,272 (GRCm39) |
F59I |
probably benign |
Het |
Prg4 |
A |
G |
1: 150,325,839 (GRCm39) |
|
probably benign |
Het |
Ptpn4 |
T |
G |
1: 119,587,642 (GRCm39) |
Q900H |
probably damaging |
Het |
Ralgps1 |
A |
G |
2: 33,062,428 (GRCm39) |
|
probably null |
Het |
Rasgrp4 |
C |
T |
7: 28,845,450 (GRCm39) |
A381V |
possibly damaging |
Het |
Selenbp1 |
A |
T |
3: 94,844,621 (GRCm39) |
K93* |
probably null |
Het |
Skint5 |
T |
A |
4: 113,524,415 (GRCm39) |
K855N |
unknown |
Het |
Ttc39a |
C |
A |
4: 109,290,219 (GRCm39) |
Q310K |
possibly damaging |
Het |
Utp18 |
C |
T |
11: 93,766,784 (GRCm39) |
V276I |
probably damaging |
Het |
Vmn2r45 |
C |
A |
7: 8,486,603 (GRCm39) |
L228F |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |