Incidental Mutation 'IGL01627:Tssk4'
ID |
92815 |
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? |
Possibly essential
(E-score: 0.620)
|
Stock # |
IGL01627
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
55887641-55889996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55888010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 69
(F69L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007735]
[ENSMUST00000164809]
[ENSMUST00000226497]
[ENSMUST00000226591]
[ENSMUST00000227297]
[ENSMUST00000228041]
[ENSMUST00000228395]
|
AlphaFold |
Q9D411 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000007735
AA Change: F69L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000007735 Gene: ENSMUSG00000007591 AA Change: F69L
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: F69L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127728 Gene: ENSMUSG00000007591 AA Change: F69L
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: F69L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226591
AA Change: F69L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227297
AA Change: F69L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227568
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228007
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228041
AA Change: F69L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228395
AA Change: F69L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
Casp9 |
T |
C |
4: 141,532,853 (GRCm39) |
|
probably benign |
Het |
Ccdc186 |
G |
A |
19: 56,780,452 (GRCm39) |
T864I |
probably damaging |
Het |
Cgas |
A |
T |
9: 78,349,996 (GRCm39) |
V57E |
possibly damaging |
Het |
Chek1 |
T |
A |
9: 36,635,191 (GRCm39) |
H64L |
probably damaging |
Het |
Chsy3 |
T |
C |
18: 59,309,367 (GRCm39) |
S207P |
probably damaging |
Het |
Clec4n |
A |
G |
6: 123,221,433 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
G |
A |
1: 24,218,689 (GRCm39) |
|
probably null |
Het |
Dgkd |
A |
G |
1: 87,808,150 (GRCm39) |
R73G |
probably damaging |
Het |
Dmbt1 |
A |
T |
7: 130,682,915 (GRCm39) |
T562S |
probably benign |
Het |
Epb42 |
T |
C |
2: 120,856,324 (GRCm39) |
T407A |
probably benign |
Het |
Eps8l3 |
A |
G |
3: 107,788,487 (GRCm39) |
D58G |
probably damaging |
Het |
Fuca1 |
A |
T |
4: 135,652,862 (GRCm39) |
N162I |
possibly damaging |
Het |
Gramd1a |
T |
C |
7: 30,839,221 (GRCm39) |
D229G |
probably damaging |
Het |
Grin1 |
A |
G |
2: 25,208,709 (GRCm39) |
S64P |
probably damaging |
Het |
Hgd |
T |
G |
16: 37,442,287 (GRCm39) |
V243G |
probably damaging |
Het |
Il23r |
A |
T |
6: 67,400,412 (GRCm39) |
N639K |
probably benign |
Het |
Il33 |
A |
G |
19: 29,929,390 (GRCm39) |
T38A |
possibly damaging |
Het |
Mycbpap |
T |
C |
11: 94,405,430 (GRCm39) |
E33G |
probably damaging |
Het |
Npas1 |
C |
T |
7: 16,199,111 (GRCm39) |
G148D |
probably damaging |
Het |
Ntan1 |
C |
T |
16: 13,652,603 (GRCm39) |
T233M |
probably benign |
Het |
Or6c5 |
A |
T |
10: 129,074,138 (GRCm39) |
N40I |
probably damaging |
Het |
Plscr1l1 |
A |
T |
9: 92,229,864 (GRCm39) |
I23F |
probably damaging |
Het |
Pou2f1 |
A |
T |
1: 165,708,002 (GRCm39) |
|
probably benign |
Het |
Rims4 |
T |
C |
2: 163,706,022 (GRCm39) |
Y204C |
probably damaging |
Het |
Selp |
A |
G |
1: 163,971,461 (GRCm39) |
|
probably null |
Het |
Senp7 |
A |
G |
16: 55,992,219 (GRCm39) |
E725G |
probably damaging |
Het |
Snx31 |
A |
T |
15: 36,517,818 (GRCm39) |
F366Y |
probably damaging |
Het |
Spats2l |
A |
G |
1: 57,941,241 (GRCm39) |
|
probably benign |
Het |
Ugt3a1 |
T |
C |
15: 9,335,806 (GRCm39) |
L9P |
probably damaging |
Het |
Vmn2r76 |
A |
T |
7: 85,874,871 (GRCm39) |
I702N |
probably damaging |
Het |
Vps18 |
C |
A |
2: 119,127,672 (GRCm39) |
R832S |
probably benign |
Het |
Xpo6 |
A |
G |
7: 125,748,506 (GRCm39) |
L375P |
probably damaging |
Het |
Zfp462 |
C |
A |
4: 55,008,912 (GRCm39) |
P293T |
possibly damaging |
Het |
Zyg11b |
T |
C |
4: 108,107,985 (GRCm39) |
I474V |
probably benign |
Het |
|
Other mutations in Tssk4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-12-09 |