Incidental Mutation 'R6567:Tsks'
ID 522743
Institutional Source Beutler Lab
Gene Symbol Tsks
Ensembl Gene ENSMUSG00000059891
Gene Name testis-specific serine kinase substrate
Synonyms clone 4, Tsks, Tssks1, Stk22s1
MMRRC Submission 044691-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6567 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44592628-44607459 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44603305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 369 (Q369L)
Ref Sequence ENSEMBL: ENSMUSP00000112673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080233] [ENSMUST00000120929] [ENSMUST00000207719]
AlphaFold O54887
Predicted Effect probably damaging
Transcript: ENSMUST00000080233
AA Change: Q360L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000079122
Gene: ENSMUSG00000059891
AA Change: Q360L

DomainStartEndE-ValueType
Pfam:TSKS 26 525 5.7e-281 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120929
AA Change: Q369L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112673
Gene: ENSMUSG00000059891
AA Change: Q369L

DomainStartEndE-ValueType
Pfam:TSKS 26 585 8.1e-297 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207719
Predicted Effect probably benign
Transcript: ENSMUST00000208475
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (32/32)
MGI Phenotype FUNCTION: This gene is a member of a small family of testis-specific serine/threonine kinases. This gene may play a role in testicular physiology or spermiogenesis. Its expression is restricted to the testis during the last stages of spermatid maturation. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,950 (GRCm39) T546A probably benign Het
Ahnak G T 19: 8,986,170 (GRCm39) V2485L probably benign Het
C2cd5 T C 6: 142,976,974 (GRCm39) I722M possibly damaging Het
Clca4b A G 3: 144,638,100 (GRCm39) I54T possibly damaging Het
Dennd2c C T 3: 103,039,335 (GRCm39) A161V probably benign Het
Dmxl1 T C 18: 49,992,246 (GRCm39) Y331H probably damaging Het
Dnaaf11 C T 15: 66,310,228 (GRCm39) V347I probably benign Het
Dnajc2 G A 5: 21,971,676 (GRCm39) R247W probably damaging Het
Dock3 T C 9: 106,773,946 (GRCm39) T380A probably benign Het
Evc2 T C 5: 37,576,508 (GRCm39) V1044A probably benign Het
Ints2 T C 11: 86,117,487 (GRCm39) H745R probably benign Het
Kcnh1 T A 1: 191,959,412 (GRCm39) M322K probably benign Het
Mmp19 A G 10: 128,632,275 (GRCm39) T191A probably benign Het
Mms19 A G 19: 41,938,206 (GRCm39) probably null Het
Mtcl3 G T 10: 29,023,279 (GRCm39) V209F probably benign Het
Ncapd3 T C 9: 26,978,300 (GRCm39) I833T possibly damaging Het
Nif3l1 T A 1: 58,494,789 (GRCm39) C253S probably benign Het
Or52e2 A T 7: 102,804,135 (GRCm39) I273K possibly damaging Het
Pate5 T A 9: 35,750,411 (GRCm39) Y87F probably benign Het
Pcsk1 T A 13: 75,278,189 (GRCm39) I584N probably damaging Het
Pms2 T C 5: 143,865,786 (GRCm39) V50A probably damaging Het
Rptor A G 11: 119,786,838 (GRCm39) I1268V probably benign Het
Scap C T 9: 110,212,630 (GRCm39) R1021W probably damaging Het
Sos1 A T 17: 80,740,932 (GRCm39) Y618N probably damaging Het
Tesk2 C T 4: 116,649,361 (GRCm39) A157V probably damaging Het
Tm6sf2 C A 8: 70,528,174 (GRCm39) H108N probably damaging Het
Trank1 T C 9: 111,176,589 (GRCm39) V287A probably benign Het
Vmn2r58 T C 7: 41,514,673 (GRCm39) T99A probably benign Het
Wbp11 C T 6: 136,797,537 (GRCm39) S294N probably benign Het
Zfp608 T C 18: 55,030,628 (GRCm39) Y1104C probably damaging Het
Zfp759 T A 13: 67,287,150 (GRCm39) S234T probably benign Het
Other mutations in Tsks
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Tsks APN 7 44,601,982 (GRCm39) missense probably damaging 1.00
IGL03006:Tsks APN 7 44,600,198 (GRCm39) unclassified probably benign
IGL03065:Tsks APN 7 44,592,724 (GRCm39) missense probably damaging 1.00
IGL03091:Tsks APN 7 44,607,319 (GRCm39) missense possibly damaging 0.54
R0139:Tsks UTSW 7 44,603,883 (GRCm39) missense probably benign
R0619:Tsks UTSW 7 44,600,258 (GRCm39) missense probably damaging 1.00
R3709:Tsks UTSW 7 44,601,309 (GRCm39) missense possibly damaging 0.62
R4273:Tsks UTSW 7 44,607,353 (GRCm39) missense probably damaging 1.00
R4982:Tsks UTSW 7 44,593,418 (GRCm39) missense possibly damaging 0.69
R5664:Tsks UTSW 7 44,603,208 (GRCm39) missense probably damaging 1.00
R5846:Tsks UTSW 7 44,593,412 (GRCm39) missense probably damaging 1.00
R6193:Tsks UTSW 7 44,603,263 (GRCm39) missense probably damaging 0.96
R7044:Tsks UTSW 7 44,593,216 (GRCm39) missense probably damaging 0.99
R7255:Tsks UTSW 7 44,602,112 (GRCm39) missense probably benign 0.13
R7845:Tsks UTSW 7 44,603,168 (GRCm39) splice site probably null
R8073:Tsks UTSW 7 44,607,305 (GRCm39) missense probably benign
R8162:Tsks UTSW 7 44,603,296 (GRCm39) missense probably damaging 1.00
R8307:Tsks UTSW 7 44,607,086 (GRCm39) missense
R8340:Tsks UTSW 7 44,602,144 (GRCm39) missense probably damaging 1.00
R8474:Tsks UTSW 7 44,600,263 (GRCm39) missense probably damaging 1.00
R8911:Tsks UTSW 7 44,592,694 (GRCm39) intron probably benign
R9438:Tsks UTSW 7 44,607,095 (GRCm39) nonsense probably null
R9623:Tsks UTSW 7 44,605,931 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- GACGATAGCATGCATAGTCAAC -3'
(R):5'- ATACTATAGACCTGCACGGCC -3'

Sequencing Primer
(F):5'- GCATGCATAGTCAACTCTTATACC -3'
(R):5'- ATTCCCTACGGGTGGATCTCAAG -3'
Posted On 2018-06-06