Incidental Mutation 'R5186:Tesk2'
ID 397868
Institutional Source Beutler Lab
Gene Symbol Tesk2
Ensembl Gene ENSMUSG00000033985
Gene Name testis-specific kinase 2
MMRRC Submission 042765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R5186 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 116720948-116805956 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to C at 116741896 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Alanine at position 67 (G67A)
Ref Sequence ENSEMBL: ENSMUSP00000102067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045542] [ENSMUST00000106456] [ENSMUST00000106459]
AlphaFold Q8VCT9
Predicted Effect probably damaging
Transcript: ENSMUST00000045542
AA Change: G67A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041009
Gene: ENSMUSG00000033985
AA Change: G67A

low complexity region 24 30 N/A INTRINSIC
Pfam:Pkinase 59 309 1.6e-48 PFAM
Pfam:Pkinase_Tyr 59 309 1.2e-50 PFAM
low complexity region 539 546 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106456
AA Change: G67A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102064
Gene: ENSMUSG00000033985
AA Change: G67A

low complexity region 24 30 N/A INTRINSIC
Pfam:Pkinase_Tyr 59 291 4.5e-46 PFAM
Pfam:Pkinase 60 332 3.6e-46 PFAM
low complexity region 510 517 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106459
AA Change: G67A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102067
Gene: ENSMUSG00000033985
AA Change: G67A

low complexity region 24 30 N/A INTRINSIC
Pfam:Pkinase_Tyr 59 238 6.1e-37 PFAM
Pfam:Pkinase 60 239 4.3e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134192
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik A T 13: 59,743,739 (GRCm38) L89H probably damaging Het
Abca8a T C 11: 110,091,599 (GRCm38) I6V probably null Het
Aox1 A G 1: 58,068,370 (GRCm38) D601G probably damaging Het
Asic1 GCACC GCACCACC 15: 99,698,803 (GRCm38) probably benign Het
Cacna1g T G 11: 94,442,848 (GRCm38) N931T probably damaging Het
Ccdc14 T C 16: 34,721,585 (GRCm38) F511L probably damaging Het
Cd177 T A 7: 24,744,923 (GRCm38) E710V probably benign Het
Cep112 T C 11: 108,752,560 (GRCm38) C49R probably benign Het
Clip2 G A 5: 134,522,791 (GRCm38) T159M possibly damaging Het
Dnah2 T C 11: 69,435,884 (GRCm38) N3575S probably damaging Het
Dnah6 T A 6: 73,067,427 (GRCm38) I3234F probably damaging Het
Eci3 G T 13: 34,946,978 (GRCm38) A302E possibly damaging Het
Fam204a T C 19: 60,199,989 (GRCm38) K214E probably damaging Het
Fam78a T C 2: 32,082,654 (GRCm38) T85A possibly damaging Het
Flnb T C 14: 7,909,748 (GRCm38) Y1401H probably damaging Het
Foxl2 A T 9: 98,956,055 (GRCm38) D132V probably damaging Het
Frs2 C A 10: 117,078,842 (GRCm38) W57C probably damaging Het
Gm26558 G T 2: 70,661,417 (GRCm38) probably benign Het
Gpr139 A G 7: 119,144,840 (GRCm38) V174A probably benign Het
Grik5 T C 7: 25,015,819 (GRCm38) T676A probably damaging Het
H60c T C 10: 3,259,273 (GRCm38) probably null Het
Hspa1l A G 17: 34,978,469 (GRCm38) K495E probably damaging Het
Irgm1 C T 11: 48,866,217 (GRCm38) V256I probably benign Het
Kat7 T A 11: 95,286,416 (GRCm38) T293S probably benign Het
Lipg C T 18: 74,960,938 (GRCm38) V13I probably benign Het
Lrrn1 A T 6: 107,569,224 (GRCm38) Y661F probably damaging Het
Mllt3 A G 4: 87,840,995 (GRCm38) V272A probably benign Het
Mx1 G A 16: 97,455,494 (GRCm38) R162C probably benign Het
Myo18b T A 5: 112,871,470 (GRCm38) D647V probably damaging Het
Naf1 G A 8: 66,879,646 (GRCm38) V329I probably benign Het
Olfr1286 A T 2: 111,420,774 (GRCm38) M59K probably damaging Het
Olfr654 A T 7: 104,588,211 (GRCm38) I153F probably damaging Het
Olfr936 A T 9: 39,046,969 (GRCm38) C194* probably null Het
P2rx5 G A 11: 73,171,790 (GRCm38) V442M possibly damaging Het
Pcdhb9 A G 18: 37,401,232 (GRCm38) E93G probably damaging Het
Pcdhga4 A T 18: 37,687,426 (GRCm38) N676I probably benign Het
Pgm5 A G 19: 24,820,128 (GRCm38) M230T probably damaging Het
Pik3c2g T C 6: 139,622,018 (GRCm38) V44A probably damaging Het
Pp2d1 T C 17: 53,508,140 (GRCm38) M519V probably benign Het
Ppp1r10 A G 17: 35,928,511 (GRCm38) E404G probably damaging Het
Prpf8 A T 11: 75,489,783 (GRCm38) E104V possibly damaging Het
Ptpa T C 2: 30,438,355 (GRCm38) probably null Het
Pygl A C 12: 70,201,344 (GRCm38) N248K probably damaging Het
Rbm8a A G 3: 96,630,932 (GRCm38) D102G probably damaging Het
Sema3d A G 5: 12,584,908 (GRCm38) D647G probably benign Het
Serpinb11 A T 1: 107,379,754 (GRCm38) D305V probably damaging Het
Slc12a8 T C 16: 33,617,208 (GRCm38) I337T probably damaging Het
Slc29a2 G A 19: 5,028,967 (GRCm38) R286Q probably benign Het
Slc2a3 T A 6: 122,735,583 (GRCm38) D234V probably damaging Het
Slco4a1 T C 2: 180,473,108 (GRCm38) V608A probably damaging Het
Srrm2 C T 17: 23,816,587 (GRCm38) T831I probably benign Het
St18 T A 1: 6,802,317 (GRCm38) probably null Het
Tlr1 A T 5: 64,925,221 (GRCm38) L671H probably damaging Het
Tmem63b A T 17: 45,661,477 (GRCm38) Y735N possibly damaging Het
Tmprss11a C T 5: 86,420,079 (GRCm38) C263Y probably damaging Het
Trio A T 15: 27,897,991 (GRCm38) V345E probably damaging Het
Ubr5 A G 15: 37,997,916 (GRCm38) S1674P probably damaging Het
Uchl3 T A 14: 101,695,917 (GRCm38) C209S probably damaging Het
Uhmk1 T C 1: 170,211,167 (GRCm38) N206S probably damaging Het
Uhrf1 C T 17: 56,318,340 (GRCm38) R588W probably damaging Het
Usp28 T C 9: 49,010,250 (GRCm38) V256A probably damaging Het
Utrn C A 10: 12,728,777 (GRCm38) L552F probably damaging Het
Vmn1r55 A T 7: 5,146,986 (GRCm38) M146K probably damaging Het
Vmn1r57 A C 7: 5,221,108 (GRCm38) I211L probably benign Het
Zar1 C T 5: 72,577,399 (GRCm38) C316Y probably damaging Het
Zc3h11a A T 1: 133,621,674 (GRCm38) S750T probably damaging Het
Zcchc6 A G 13: 59,816,656 (GRCm38) probably null Het
Zfp366 G A 13: 99,246,168 (GRCm38) C613Y probably benign Het
Zfp37 A T 4: 62,191,256 (GRCm38) C524S probably damaging Het
Zfp516 T C 18: 82,957,093 (GRCm38) V472A probably benign Het
Zhx1 A T 15: 58,052,423 (GRCm38) M809K probably damaging Het
Zic1 T C 9: 91,364,371 (GRCm38) Y216C probably damaging Het
Other mutations in Tesk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Tesk2 APN 4 116,771,801 (GRCm38) missense possibly damaging 0.68
IGL02051:Tesk2 APN 4 116,751,184 (GRCm38) missense probably damaging 1.00
IGL02223:Tesk2 APN 4 116,741,825 (GRCm38) nonsense probably null
IGL02747:Tesk2 APN 4 116,802,879 (GRCm38) missense probably benign 0.31
IGL02942:Tesk2 APN 4 116,771,820 (GRCm38) missense probably damaging 0.99
BB006:Tesk2 UTSW 4 116,802,255 (GRCm38) missense probably benign 0.08
BB016:Tesk2 UTSW 4 116,802,255 (GRCm38) missense probably benign 0.08
R1804:Tesk2 UTSW 4 116,800,621 (GRCm38) unclassified probably benign
R1936:Tesk2 UTSW 4 116,741,824 (GRCm38) missense probably benign 0.23
R1986:Tesk2 UTSW 4 116,751,193 (GRCm38) missense probably damaging 1.00
R2414:Tesk2 UTSW 4 116,801,757 (GRCm38) missense possibly damaging 0.96
R4632:Tesk2 UTSW 4 116,741,712 (GRCm38) missense probably benign 0.01
R4896:Tesk2 UTSW 4 116,802,993 (GRCm38) missense probably benign
R5209:Tesk2 UTSW 4 116,724,698 (GRCm38) start gained probably benign
R5278:Tesk2 UTSW 4 116,805,936 (GRCm38) intron probably benign
R5769:Tesk2 UTSW 4 116,802,315 (GRCm38) splice site probably null
R6199:Tesk2 UTSW 4 116,792,170 (GRCm38) missense probably damaging 0.98
R6464:Tesk2 UTSW 4 116,802,849 (GRCm38) missense probably damaging 1.00
R6567:Tesk2 UTSW 4 116,792,164 (GRCm38) missense probably damaging 1.00
R6867:Tesk2 UTSW 4 116,801,798 (GRCm38) missense probably damaging 0.99
R7028:Tesk2 UTSW 4 116,802,687 (GRCm38) nonsense probably null
R7929:Tesk2 UTSW 4 116,802,255 (GRCm38) missense probably benign 0.08
R8830:Tesk2 UTSW 4 116,802,287 (GRCm38) missense probably benign 0.00
R8957:Tesk2 UTSW 4 116,802,713 (GRCm38) missense probably benign 0.10
R9043:Tesk2 UTSW 4 116,802,951 (GRCm38) missense probably benign 0.20
R9074:Tesk2 UTSW 4 116,801,736 (GRCm38) missense probably damaging 1.00
R9464:Tesk2 UTSW 4 116,801,246 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-07-06