Incidental Mutation 'R1868:Tesk1'
ID 208924
Institutional Source Beutler Lab
Gene Symbol Tesk1
Ensembl Gene ENSMUSG00000028458
Gene Name testis specific protein kinase 1
Synonyms
MMRRC Submission 039890-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.288) question?
Stock # R1868 (G1)
Quality Score 168
Status Validated
Chromosome 4
Chromosomal Location 43442277-43448075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43447201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 530 (W530R)
Ref Sequence ENSEMBL: ENSMUSP00000050087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030179] [ENSMUST00000060864] [ENSMUST00000098104] [ENSMUST00000098105] [ENSMUST00000107925] [ENSMUST00000107926] [ENSMUST00000138981]
AlphaFold O70146
Predicted Effect probably benign
Transcript: ENSMUST00000030179
SMART Domains Protein: ENSMUSP00000030179
Gene: ENSMUSG00000028459

DomainStartEndE-ValueType
low complexity region 44 60 N/A INTRINSIC
transmembrane domain 96 118 N/A INTRINSIC
coiled coil region 137 223 N/A INTRINSIC
CLECT 232 348 2.28e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000060864
AA Change: W530R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000050087
Gene: ENSMUSG00000028458
AA Change: W530R

DomainStartEndE-ValueType
low complexity region 2 33 N/A INTRINSIC
Pfam:Pkinase 52 306 5.4e-46 PFAM
Pfam:Pkinase_Tyr 52 306 3.1e-47 PFAM
low complexity region 316 330 N/A INTRINSIC
low complexity region 345 370 N/A INTRINSIC
low complexity region 403 424 N/A INTRINSIC
low complexity region 472 490 N/A INTRINSIC
low complexity region 513 525 N/A INTRINSIC
low complexity region 549 565 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098104
SMART Domains Protein: ENSMUSP00000095708
Gene: ENSMUSG00000028459

DomainStartEndE-ValueType
low complexity region 44 60 N/A INTRINSIC
coiled coil region 83 169 N/A INTRINSIC
CLECT 178 287 2.48e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098105
SMART Domains Protein: ENSMUSP00000095709
Gene: ENSMUSG00000028459

DomainStartEndE-ValueType
low complexity region 44 60 N/A INTRINSIC
transmembrane domain 72 94 N/A INTRINSIC
coiled coil region 113 199 N/A INTRINSIC
CLECT 208 324 2.28e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107925
SMART Domains Protein: ENSMUSP00000103558
Gene: ENSMUSG00000028459

DomainStartEndE-ValueType
low complexity region 44 60 N/A INTRINSIC
transmembrane domain 96 118 N/A INTRINSIC
coiled coil region 137 223 N/A INTRINSIC
CLECT 232 334 2.65e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107926
SMART Domains Protein: ENSMUSP00000103559
Gene: ENSMUSG00000028459

DomainStartEndE-ValueType
low complexity region 44 60 N/A INTRINSIC
transmembrane domain 96 118 N/A INTRINSIC
coiled coil region 137 223 N/A INTRINSIC
CLECT 232 341 2.48e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140284
Predicted Effect probably benign
Transcript: ENSMUST00000138981
SMART Domains Protein: ENSMUSP00000121067
Gene: ENSMUSG00000028458

DomainStartEndE-ValueType
low complexity region 2 33 N/A INTRINSIC
Pfam:Pkinase 52 174 7.6e-29 PFAM
Pfam:Pkinase_Tyr 52 175 1.5e-26 PFAM
Meta Mutation Damage Score 0.1701 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency 97% (115/118)
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 and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to those of the LIM motif-containing protein kinases (LIMKs). The encoded protein can phosphorylate myelin basic protein and histone in vitro. The testicular germ cell-specific expression and developmental pattern of expression of the mouse gene suggests that this gene plays an important role at and after the meiotic phase of spermatogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A T 5: 66,157,560 (GRCm39) M1K probably null Het
A630073D07Rik C T 6: 132,603,457 (GRCm39) E100K unknown Het
Abcc3 T G 11: 94,254,889 (GRCm39) D638A probably benign Het
Acadm T C 3: 153,635,889 (GRCm39) I272V probably benign Het
Adam2 G A 14: 66,315,107 (GRCm39) T22I probably damaging Het
Aldh3b1 G A 19: 3,971,271 (GRCm39) probably benign Het
Arfgef3 A T 10: 18,537,135 (GRCm39) I182K probably benign Het
Arhgef17 A G 7: 100,528,184 (GRCm39) S677P probably benign Het
Atp2b1 T C 10: 98,832,750 (GRCm39) V417A probably damaging Het
Brca1 T A 11: 101,388,839 (GRCm39) H1675L probably benign Het
Brd10 A T 19: 29,720,998 (GRCm39) S743T probably damaging Het
Btd G T 14: 31,389,266 (GRCm39) G329V probably benign Het
Capsl T A 15: 9,461,916 (GRCm39) L104* probably null Het
Cbx1 T C 11: 96,693,554 (GRCm39) S107P probably benign Het
Cd207 G T 6: 83,648,683 (GRCm39) Y326* probably null Het
Cenpp T C 13: 49,794,759 (GRCm39) D136G probably damaging Het
Chsy3 A G 18: 59,309,560 (GRCm39) probably null Het
Cntrl T A 2: 35,019,827 (GRCm39) H551Q probably benign Het
Col14a1 T A 15: 55,310,858 (GRCm39) probably benign Het
Cybrd1 T A 2: 70,967,978 (GRCm39) F183Y possibly damaging Het
D5Ertd579e G A 5: 36,773,771 (GRCm39) S208L probably damaging Het
Dlg2 A T 7: 92,036,160 (GRCm39) K719* probably null Het
Dppa1 A T 11: 46,516,393 (GRCm39) probably null Het
Dse A G 10: 34,029,284 (GRCm39) V602A possibly damaging Het
Elapor2 T A 5: 9,529,251 (GRCm39) I1028K probably damaging Het
Elmo1 C T 13: 20,773,823 (GRCm39) A611V possibly damaging Het
Ets2 T C 16: 95,516,118 (GRCm39) S233P probably benign Het
Fchsd2 G A 7: 100,899,645 (GRCm39) probably benign Het
Fhip2a T C 19: 57,374,737 (GRCm39) I704T possibly damaging Het
Fkbp4 T C 6: 128,409,453 (GRCm39) R402G probably benign Het
G2e3 T A 12: 51,400,412 (GRCm39) D21E probably benign Het
Gask1a A G 9: 121,794,493 (GRCm39) T216A possibly damaging Het
Gck A T 11: 5,852,165 (GRCm39) N391K probably damaging Het
Gm11077 T A 6: 140,675,017 (GRCm39) I3N unknown Het
Gm6793 T C 8: 112,741,088 (GRCm39) M185V probably benign Het
Gucy2d T A 7: 98,103,268 (GRCm39) L504H probably damaging Het
Hat1 T A 2: 71,251,627 (GRCm39) Y225* probably null Het
Iars2 A T 1: 185,050,765 (GRCm39) D441E probably benign Het
Ido2 C A 8: 25,043,776 (GRCm39) M92I possibly damaging Het
Ifne T C 4: 88,797,908 (GRCm39) E170G probably damaging Het
Ints8 C A 4: 11,241,684 (GRCm39) C253F probably damaging Het
Intu G T 3: 40,618,765 (GRCm39) G257V probably damaging Het
Jakmip3 A G 7: 138,609,316 (GRCm39) K140R probably benign Het
Kcnip3 T C 2: 127,301,263 (GRCm39) E237G probably damaging Het
Ksr2 A C 5: 117,643,594 (GRCm39) E121A probably benign Het
Lars1 T A 18: 42,347,902 (GRCm39) I974F probably benign Het
Lce1b A G 3: 92,563,318 (GRCm39) S72P unknown Het
Lhfpl4 T A 6: 113,153,394 (GRCm39) D125V probably benign Het
Luc7l G A 17: 26,499,030 (GRCm39) probably benign Het
Mei1 T C 15: 82,009,154 (GRCm39) L833P probably damaging Het
Mier2 A G 10: 79,384,664 (GRCm39) V150A probably damaging Het
Muc4 C T 16: 32,576,715 (GRCm39) R2072C unknown Het
Myh3 A G 11: 66,975,852 (GRCm39) K295E probably benign Het
Ndufaf5 A G 2: 140,023,509 (GRCm39) I115V probably benign Het
Neb T C 2: 52,216,756 (GRCm39) K140E probably damaging Het
Niban1 A G 1: 151,517,302 (GRCm39) S104G possibly damaging Het
Npas2 A G 1: 39,339,759 (GRCm39) D103G probably benign Het
Ntrk3 A T 7: 77,842,352 (GRCm39) H825Q possibly damaging Het
Nup62 T A 7: 44,478,472 (GRCm39) S162R possibly damaging Het
Or4c108 T C 2: 88,804,128 (GRCm39) T36A possibly damaging Het
Or5g23 T A 2: 85,438,409 (GRCm39) I282F probably damaging Het
Or5t7 G A 2: 86,507,629 (GRCm39) T16I possibly damaging Het
Or8c8 A G 9: 38,164,986 (GRCm39) E91G probably damaging Het
Orc4 A G 2: 48,800,305 (GRCm39) M281T probably benign Het
Osbpl5 C A 7: 143,269,510 (GRCm39) R22L probably damaging Het
Otos A G 1: 92,572,185 (GRCm39) F47S probably damaging Het
Parp11 A G 6: 127,447,740 (GRCm39) T25A probably damaging Het
Pcdhb9 A C 18: 37,535,137 (GRCm39) D377A probably damaging Het
Pdgfra C T 5: 75,331,534 (GRCm39) S348L probably benign Het
Pdlim5 C A 3: 142,012,060 (GRCm39) probably null Het
Peg12 T C 7: 62,113,416 (GRCm39) H227R probably benign Het
Piezo2 T C 18: 63,152,415 (GRCm39) E2559G probably damaging Het
Pnisr C T 4: 21,874,086 (GRCm39) probably benign Het
Ppa2 A T 3: 133,053,858 (GRCm39) I183F probably damaging Het
Pramel48 T A 5: 95,630,758 (GRCm39) Y212N probably benign Het
Prl2a1 T C 13: 27,988,923 (GRCm39) L16P probably damaging Het
Rai14 C A 15: 10,633,314 (GRCm39) Q25H probably damaging Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rbm34 C A 8: 127,697,631 (GRCm39) A27S probably benign Het
Rchy1 T C 5: 92,099,762 (GRCm39) D192G probably damaging Het
Rexo1 T C 10: 80,378,754 (GRCm39) D1094G probably damaging Het
Rtl1 T A 12: 109,556,970 (GRCm39) D1623V probably damaging Het
Ryr2 C T 13: 11,746,586 (GRCm39) E1989K probably benign Het
Sema6c A G 3: 95,078,124 (GRCm39) E500G probably damaging Het
Slc13a1 T A 6: 24,117,999 (GRCm39) Y246F probably damaging Het
Slc39a9 C T 12: 80,726,297 (GRCm39) L249F probably damaging Het
Slc6a21 C T 7: 44,937,252 (GRCm39) P261S probably benign Het
Slco2b1 C T 7: 99,335,243 (GRCm39) C179Y probably damaging Het
Sox6 T C 7: 115,258,773 (GRCm39) N252S possibly damaging Het
Spr-ps1 C T 6: 85,132,885 (GRCm39) noncoding transcript Het
Sptbn1 C A 11: 30,064,781 (GRCm39) R1906L possibly damaging Het
Stac2 T C 11: 97,943,771 (GRCm39) D13G probably benign Het
Stat5a G T 11: 100,764,955 (GRCm39) R226L probably damaging Het
Suz12 A G 11: 79,904,425 (GRCm39) probably null Het
Tas2r144 C A 6: 42,192,936 (GRCm39) H225Q probably benign Het
Tdo2 T A 3: 81,867,853 (GRCm39) M331L probably benign Het
Tlr6 T C 5: 65,112,172 (GRCm39) N245S probably benign Het
Tnfrsf11a G T 1: 105,772,431 (GRCm39) A573S probably damaging Het
Tpbpb A T 13: 61,050,344 (GRCm39) probably benign Het
Trim24 T A 6: 37,928,447 (GRCm39) S590T probably damaging Het
Ttll3 G T 6: 113,369,725 (GRCm39) A90S possibly damaging Het
Ubr5 A T 15: 38,042,090 (GRCm39) S169T probably benign Het
Usp28 T C 9: 48,928,007 (GRCm39) V363A probably damaging Het
Vcan A G 13: 89,838,990 (GRCm39) S2185P probably benign Het
Vmn1r211 T C 13: 23,035,779 (GRCm39) H296R probably benign Het
Vmn2r3 G A 3: 64,166,537 (GRCm39) P865S probably damaging Het
Wapl A G 14: 34,414,415 (GRCm39) T426A probably benign Het
Wdr37 G T 13: 8,886,887 (GRCm39) T300K probably damaging Het
Wrap53 A T 11: 69,452,990 (GRCm39) V439E probably null Het
Wrn A G 8: 33,747,249 (GRCm39) S868P probably benign Het
Zfhx4 A G 3: 5,477,774 (GRCm39) E3463G probably damaging Het
Zfp189 T A 4: 49,529,283 (GRCm39) C129S possibly damaging Het
Zfp442 T C 2: 150,250,100 (GRCm39) K544E probably damaging Het
Zfp939 T A 7: 39,122,728 (GRCm39) noncoding transcript Het
Zfyve26 T C 12: 79,308,573 (GRCm39) H228R possibly damaging Het
Other mutations in Tesk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01755:Tesk1 APN 4 43,445,820 (GRCm39) critical splice donor site probably null
IGL02969:Tesk1 APN 4 43,447,026 (GRCm39) nonsense probably null
IGL02969:Tesk1 APN 4 43,447,027 (GRCm39) missense possibly damaging 0.49
FR4449:Tesk1 UTSW 4 43,447,002 (GRCm39) utr 3 prime probably benign
FR4737:Tesk1 UTSW 4 43,447,004 (GRCm39) frame shift probably null
R0009:Tesk1 UTSW 4 43,445,368 (GRCm39) missense probably damaging 0.99
R0396:Tesk1 UTSW 4 43,446,000 (GRCm39) missense probably damaging 0.99
R0765:Tesk1 UTSW 4 43,446,706 (GRCm39) missense possibly damaging 0.81
R1850:Tesk1 UTSW 4 43,443,576 (GRCm39) missense probably damaging 1.00
R1903:Tesk1 UTSW 4 43,446,998 (GRCm39) missense probably benign 0.00
R3961:Tesk1 UTSW 4 43,445,133 (GRCm39) splice site probably null
R3973:Tesk1 UTSW 4 43,445,786 (GRCm39) missense possibly damaging 0.50
R3975:Tesk1 UTSW 4 43,445,786 (GRCm39) missense possibly damaging 0.50
R3976:Tesk1 UTSW 4 43,445,786 (GRCm39) missense possibly damaging 0.50
R4074:Tesk1 UTSW 4 43,443,606 (GRCm39) missense possibly damaging 0.88
R4908:Tesk1 UTSW 4 43,445,555 (GRCm39) nonsense probably null
R5002:Tesk1 UTSW 4 43,444,573 (GRCm39) missense probably damaging 1.00
R5237:Tesk1 UTSW 4 43,447,100 (GRCm39) missense probably damaging 0.98
R6755:Tesk1 UTSW 4 43,445,991 (GRCm39) missense probably benign 0.03
R6886:Tesk1 UTSW 4 43,443,592 (GRCm39) missense possibly damaging 0.72
R6991:Tesk1 UTSW 4 43,447,006 (GRCm39) missense probably benign
R6992:Tesk1 UTSW 4 43,447,006 (GRCm39) missense probably benign
R6993:Tesk1 UTSW 4 43,447,006 (GRCm39) missense probably benign
R7401:Tesk1 UTSW 4 43,445,743 (GRCm39) missense probably damaging 0.99
R7542:Tesk1 UTSW 4 43,445,941 (GRCm39) missense probably benign 0.08
R7825:Tesk1 UTSW 4 43,447,143 (GRCm39) missense probably damaging 0.98
R8795:Tesk1 UTSW 4 43,446,070 (GRCm39) critical splice donor site probably null
R9200:Tesk1 UTSW 4 43,447,307 (GRCm39) missense probably damaging 0.99
R9673:Tesk1 UTSW 4 43,444,574 (GRCm39) missense probably damaging 1.00
X0064:Tesk1 UTSW 4 43,443,534 (GRCm39) missense probably damaging 1.00
Z1177:Tesk1 UTSW 4 43,446,920 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGACCACTCCAGACATCCTG -3'
(R):5'- CACAGTTCAAGTTGCGGTAG -3'

Sequencing Primer
(F):5'- ATGGAGACTGCACTGCCAG -3'
(R):5'- CAACAGCTGGGGTAGGGC -3'
Posted On 2014-06-30