Incidental Mutation 'IGL02943:Tssk4'
ID 364581
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) question?
Stock # IGL02943
Quality Score
Status
Chromosome 14
Chromosomal Location 55887641-55889996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55889023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 183 (V183E)
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: V183E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000007735
Gene: ENSMUSG00000007591
AA Change: V183E

DomainStartEndE-ValueType
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: V183E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127728
Gene: ENSMUSG00000007591
AA Change: V183E

DomainStartEndE-ValueType
Pfam:Pkinase 25 281 4e-56 PFAM
Pfam:Pkinase_Tyr 25 281 3.3e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000226497
AA Change: V179E

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000226591
AA Change: V173E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000227297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227568
Predicted Effect possibly damaging
Transcript: ENSMUST00000228041
AA Change: V173E

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000228395
AA Change: V183E

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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akp3 T A 1: 87,054,091 (GRCm39) Y236* probably null Het
Ankrd13c C T 3: 157,653,564 (GRCm39) T134M probably damaging Het
Arhgef18 T C 8: 3,498,553 (GRCm39) S529P probably damaging Het
Cdkl2 T A 5: 92,185,103 (GRCm39) N96I possibly damaging Het
Cep57 A T 9: 13,730,149 (GRCm39) probably benign Het
Chchd7 T C 4: 3,942,796 (GRCm39) Y44H probably damaging Het
Ciart T C 3: 95,786,314 (GRCm39) I254V possibly damaging Het
Cyp2a12 T C 7: 26,731,967 (GRCm39) I236T probably benign Het
Dlgap5 A G 14: 47,650,433 (GRCm39) probably null Het
Ednra T A 8: 78,446,683 (GRCm39) I132F probably damaging Het
En2 T C 5: 28,371,524 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,846,613 (GRCm39) R1102G probably damaging Het
Fsip2 C A 2: 82,822,701 (GRCm39) Q6145K probably benign Het
Galnt5 A T 2: 57,889,780 (GRCm39) D460V probably damaging Het
Gm6401 C T 14: 41,788,851 (GRCm39) E73K possibly damaging Het
Gpr84 T C 15: 103,217,316 (GRCm39) I254V probably benign Het
Hacd3 A T 9: 64,897,718 (GRCm39) I298N probably damaging Het
Hyal6 T A 6: 24,743,438 (GRCm39) V378E probably damaging Het
Il20rb G T 9: 100,348,305 (GRCm39) H210N probably benign Het
Iqgap2 A G 13: 95,798,243 (GRCm39) probably benign Het
Itga1 C T 13: 115,185,832 (GRCm39) E57K possibly damaging Het
Jmjd1c T A 10: 67,055,433 (GRCm39) D571E probably damaging Het
Kmt2c T C 5: 25,495,821 (GRCm39) S623G probably damaging Het
L3mbtl2 T A 15: 81,570,456 (GRCm39) S645T possibly damaging Het
Lrp2 A G 2: 69,285,854 (GRCm39) V3779A possibly damaging Het
Lrpprc T C 17: 85,078,878 (GRCm39) R279G probably benign Het
Lurap1l A G 4: 80,871,872 (GRCm39) K122E probably damaging Het
Met T C 6: 17,535,928 (GRCm39) Y785H possibly damaging Het
Myh3 T C 11: 66,981,891 (GRCm39) F796L probably benign Het
Myo16 T C 8: 10,450,595 (GRCm39) probably benign Het
Nedd4l T C 18: 65,294,723 (GRCm39) probably null Het
Nlrp4c T C 7: 6,068,974 (GRCm39) C292R probably damaging Het
Nmnat1 A G 4: 149,557,745 (GRCm39) L99P probably damaging Het
Or1j12 A T 2: 36,343,051 (GRCm39) L151F probably benign Het
Or5p64 A G 7: 107,854,623 (GRCm39) F241L possibly damaging Het
Pclo T C 5: 14,719,235 (GRCm39) V1124A unknown Het
Phf20l1 A G 15: 66,466,733 (GRCm39) Y54C probably damaging Het
Postn T C 3: 54,285,029 (GRCm39) probably null Het
Ppp2r1b A G 9: 50,794,885 (GRCm39) D570G probably damaging Het
Prdm2 A C 4: 142,858,542 (GRCm39) S1583A probably benign Het
Proser1 T C 3: 53,386,524 (GRCm39) V802A probably damaging Het
Ptprc A T 1: 138,027,251 (GRCm39) N532K probably damaging Het
Ptprk A G 10: 28,351,172 (GRCm39) H555R possibly damaging Het
Ranbp6 T C 19: 29,789,524 (GRCm39) D276G possibly damaging Het
Rasgrf2 A G 13: 92,131,752 (GRCm39) V635A probably damaging Het
Rbm5 T C 9: 107,621,542 (GRCm39) Y620C probably damaging Het
Sall1 C T 8: 89,757,749 (GRCm39) R785H probably damaging Het
Slc22a2 G T 17: 12,828,948 (GRCm39) L351F probably damaging Het
Sorcs3 A T 19: 48,748,377 (GRCm39) Q782L probably benign Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tas2r107 T A 6: 131,636,369 (GRCm39) M227L probably damaging Het
Tecpr2 C T 12: 110,934,183 (GRCm39) T1281I probably benign Het
Topbp1 T A 9: 103,205,639 (GRCm39) V759E probably benign Het
Trim2 T C 3: 84,085,483 (GRCm39) T504A probably benign Het
Trpc1 A G 9: 95,590,906 (GRCm39) probably benign Het
Vmn1r202 T C 13: 22,686,364 (GRCm39) T18A probably benign Het
Vmn1r225 T C 17: 20,722,567 (GRCm39) S3P possibly damaging Het
Vmn2r101 T A 17: 19,831,666 (GRCm39) V554E probably damaging Het
Vps13a T C 19: 16,641,250 (GRCm39) I2291V probably damaging Het
Vps39 A G 2: 120,169,968 (GRCm39) S195P possibly damaging Het
Zfand4 T A 6: 116,250,837 (GRCm39) probably benign Het
Other mutations in Tssk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Tssk4 APN 14 55,888,010 (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 2015-12-18