Incidental Mutation 'R9673:Tesk1'
ID 728132
Institutional Source Beutler Lab
Gene Symbol Tesk1
Ensembl Gene ENSMUSG00000028458
Gene Name testis specific protein kinase 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.288) question?
Stock # R9673 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 43442277-43448075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43444574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 126 (Y126C)
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: Y126C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050087
Gene: ENSMUSG00000028458
AA Change: Y126C

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 probably damaging
Transcript: ENSMUST00000138981
AA Change: Y126C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121067
Gene: ENSMUSG00000028458
AA Change: Y126C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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 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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T C 2: 35,244,399 (GRCm39) K318E probably benign Het
Ap5z1 T C 5: 142,463,113 (GRCm39) F766L probably benign Het
Atrnl1 A G 19: 57,599,786 (GRCm39) M1V probably null Het
Atxn1 T C 13: 45,710,622 (GRCm39) E770G probably benign Het
Brwd1 T G 16: 95,813,096 (GRCm39) I1471L probably benign Het
Bud23 T C 5: 135,082,571 (GRCm39) E66G probably benign Het
Cdh8 T A 8: 99,757,367 (GRCm39) I744L possibly damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cep95 C A 11: 106,703,322 (GRCm39) H467Q probably benign Het
Chd1 A G 17: 15,989,023 (GRCm39) Y1592C probably benign Het
Chkb C G 15: 89,313,628 (GRCm39) G59A probably damaging Het
Copa A G 1: 171,945,648 (GRCm39) S915G probably benign Het
Creb3 G T 4: 43,563,191 (GRCm39) V97F probably damaging Het
Csmd2 T A 4: 128,308,062 (GRCm39) H1273Q Het
Cxcr1 T C 1: 74,231,074 (GRCm39) N316S probably benign Het
Cyct A T 2: 76,184,523 (GRCm39) I76N probably damaging Het
Dmxl2 G T 9: 54,294,840 (GRCm39) R2412S probably damaging Het
Dnah11 A G 12: 117,982,513 (GRCm39) M2552T possibly damaging Het
Dnph1 G A 17: 46,809,901 (GRCm39) E148K possibly damaging Het
Ecpas T C 4: 58,822,060 (GRCm39) N1169S probably benign Het
Esp16 T A 17: 39,848,731 (GRCm39) Y8* probably null Het
Fam186a T C 15: 99,841,024 (GRCm39) D1740G possibly damaging Het
Fam76a C A 4: 132,628,557 (GRCm39) K300N probably damaging Het
Fcgbpl1 A G 7: 27,856,044 (GRCm39) T1944A probably benign Het
Frrs1l A C 4: 56,990,191 (GRCm39) D27E Het
G6pc1 T C 11: 101,267,380 (GRCm39) S277P probably damaging Het
Gabrg3 T A 7: 56,973,422 (GRCm39) I82F probably damaging Het
Gm3604 G T 13: 62,517,969 (GRCm39) Q130K probably benign Het
Hhip T A 8: 80,719,108 (GRCm39) D473V probably damaging Het
Ifi209 T C 1: 173,470,332 (GRCm39) S307P probably damaging Het
Ino80c C T 18: 24,254,856 (GRCm39) M1I probably null Het
Jag2 G T 12: 112,875,416 (GRCm39) C872* probably null Het
Kcnma1 A C 14: 23,558,123 (GRCm39) H474Q probably benign Het
Krr1 G A 10: 111,818,963 (GRCm39) probably null Het
Lats1 T G 10: 7,588,387 (GRCm39) D1001E probably benign Het
Lilrb4b T C 10: 51,357,753 (GRCm39) L149P probably benign Het
Lrrk2 T A 15: 91,649,884 (GRCm39) S1674T probably damaging Het
Magi2 A G 5: 20,670,582 (GRCm39) I309V possibly damaging Het
Mtmr4 T C 11: 87,504,916 (GRCm39) V1137A probably damaging Het
Mtmr4 A G 11: 87,503,138 (GRCm39) D1064G probably damaging Het
Neb C T 2: 52,133,853 (GRCm39) probably null Het
Nhsl1 T A 10: 18,402,665 (GRCm39) V1297E possibly damaging Het
Nlrp3 T A 11: 59,440,148 (GRCm39) V575D probably damaging Het
Nptx2 T C 5: 144,492,159 (GRCm39) I312T possibly damaging Het
Osm A G 11: 4,189,926 (GRCm39) T237A probably benign Het
Pcdha12 T C 18: 37,155,234 (GRCm39) V651A possibly damaging Het
Pclo A G 5: 14,908,758 (GRCm39) probably null Het
Pdlim3 C T 8: 46,368,195 (GRCm39) S183L possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pgm2 T A 5: 64,273,671 (GRCm39) M552K probably damaging Het
Pkhd1l1 T C 15: 44,386,901 (GRCm39) L1258S probably benign Het
Proser3 T G 7: 30,248,530 (GRCm39) T55P probably damaging Het
Ranbp2 C A 10: 58,300,963 (GRCm39) P611Q probably damaging Het
Rangap1 T C 15: 81,590,637 (GRCm39) D485G probably benign Het
Rp1 G A 1: 4,337,792 (GRCm39) T421I unknown Het
Ryr3 G A 2: 112,486,883 (GRCm39) L3862F possibly damaging Het
Sbf1 C T 15: 89,179,675 (GRCm39) G1337R possibly damaging Het
Setd2 A G 9: 110,378,138 (GRCm39) E651G probably damaging Het
Shmt1 A G 11: 60,692,769 (GRCm39) W105R probably damaging Het
Skor2 C T 18: 76,946,376 (GRCm39) H33Y unknown Het
Slc22a29 T C 19: 8,140,104 (GRCm39) I434V probably benign Het
Sord C T 2: 122,090,712 (GRCm39) T221I probably benign Het
Speer1g T A 5: 11,178,990 (GRCm39) N55K probably benign Het
Tbcd T C 11: 121,464,647 (GRCm39) Y561H probably damaging Het
Tcaf1 G A 6: 42,663,808 (GRCm39) S24F probably benign Het
Tenm4 A T 7: 96,517,196 (GRCm39) D1429V probably damaging Het
Tmem176a G A 6: 48,820,952 (GRCm39) V141I probably benign Het
Tmem204 A T 17: 25,299,243 (GRCm39) V92D probably damaging Het
Ttn T A 2: 76,572,605 (GRCm39) D26096V probably damaging Het
Vmn1r70 T A 7: 10,368,364 (GRCm39) L284Q probably damaging Het
Vmn2r77 T C 7: 86,450,171 (GRCm39) V139A possibly damaging Het
Wdpcp A G 11: 21,671,285 (GRCm39) R509G possibly damaging Het
Wee1 C T 7: 109,725,210 (GRCm39) T284I probably damaging Het
Wfs1 A G 5: 37,125,113 (GRCm39) S593P probably damaging Het
Zbtb11 A G 16: 55,827,336 (GRCm39) H934R probably damaging Het
Zfp277 A T 12: 40,370,611 (GRCm39) V446E probably benign Het
Zfp874a C A 13: 67,591,156 (GRCm39) R176L probably benign Het
Znrf2 A T 6: 54,840,978 (GRCm39) N184I probably damaging Het
Zp2 T A 7: 119,733,238 (GRCm39) T568S probably 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
R1868:Tesk1 UTSW 4 43,447,201 (GRCm39) missense probably damaging 0.99
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
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'- GTACATAGTCCTACTGTGAGAGAC -3'
(R):5'- TACATGTCAATATCCACAGGCC -3'

Sequencing Primer
(F):5'- CAGGGTAGCCTAGTATATAAATGGG -3'
(R):5'- TGTCAATATCCACAGGCCAATTAC -3'
Posted On 2022-10-06