Incidental Mutation 'R7508:Taok1'
ID 581906
Institutional Source Beutler Lab
Gene Symbol Taok1
Ensembl Gene ENSMUSG00000017291
Gene Name TAO kinase 1
Synonyms 2810468K05Rik, D130018F14Rik
MMRRC Submission 045581-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.455) question?
Stock # R7508 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 77419988-77498641 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77436152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 704 (H704L)
Ref Sequence ENSEMBL: ENSMUSP00000017435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017435] [ENSMUST00000058496]
AlphaFold Q5F2E8
Predicted Effect probably damaging
Transcript: ENSMUST00000017435
AA Change: H704L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000017435
Gene: ENSMUSG00000017291
AA Change: H704L

DomainStartEndE-ValueType
S_TKc 28 281 3.26e-87 SMART
low complexity region 327 335 N/A INTRINSIC
low complexity region 350 370 N/A INTRINSIC
coiled coil region 458 651 N/A INTRINSIC
coiled coil region 792 878 N/A INTRINSIC
low complexity region 914 930 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000058496
AA Change: H704L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000055470
Gene: ENSMUSG00000017291
AA Change: H704L

DomainStartEndE-ValueType
S_TKc 28 281 3.26e-87 SMART
low complexity region 327 335 N/A INTRINSIC
low complexity region 350 370 N/A INTRINSIC
coiled coil region 458 651 N/A INTRINSIC
coiled coil region 792 878 N/A INTRINSIC
low complexity region 914 930 N/A INTRINSIC
Meta Mutation Damage Score 0.5662 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 C T 5: 50,174,209 (GRCm39) A110T probably benign Het
Adra1a A C 14: 66,875,384 (GRCm39) I120L probably damaging Het
Ahnak2 C T 12: 112,740,839 (GRCm39) V1078I possibly damaging Het
Ccser1 A G 6: 61,547,707 (GRCm39) H590R probably benign Het
Cdh12 T G 15: 21,583,851 (GRCm39) L564V probably benign Het
Celsr3 T A 9: 108,713,821 (GRCm39) H1900Q probably benign Het
Clasp1 T A 1: 118,473,164 (GRCm39) M918K probably benign Het
Cmtm6 A G 9: 114,560,308 (GRCm39) E2G probably damaging Het
Ctsg A G 14: 56,337,998 (GRCm39) probably null Het
Cylc2 T A 4: 51,229,256 (GRCm39) probably null Het
Dna2 A G 10: 62,807,772 (GRCm39) probably null Het
Dnai1 G A 4: 41,614,323 (GRCm39) R333H probably benign Het
Egln3 T C 12: 54,227,414 (GRCm39) D239G probably benign Het
Eif1ad12 T C 12: 87,541,612 (GRCm39) M41T possibly damaging Het
Fam13a A T 6: 58,964,269 (GRCm39) D54E probably damaging Het
Fn1 A G 1: 71,636,675 (GRCm39) V2159A probably benign Het
Gcnt2 T A 13: 41,041,157 (GRCm39) F105L probably benign Het
Gpd1 G A 15: 99,619,967 (GRCm39) S255N probably damaging Het
Hacd4 A G 4: 88,355,715 (GRCm39) F57L probably benign Het
Helb T C 10: 119,941,188 (GRCm39) D500G probably benign Het
Ighv1-26 G A 12: 114,752,062 (GRCm39) S94F probably damaging Het
Kirrel1 T C 3: 86,990,746 (GRCm39) D692G possibly damaging Het
Klra7 A T 6: 130,207,054 (GRCm39) probably null Het
Lyl1 T C 8: 85,430,929 (GRCm39) V277A probably benign Het
Mon2 A C 10: 122,859,844 (GRCm39) W811G probably damaging Het
Myo9b T C 8: 71,807,445 (GRCm39) L1627P probably benign Het
Neurl1b C G 17: 26,657,720 (GRCm39) H219Q probably benign Het
Odf4 A T 11: 68,813,249 (GRCm39) C218S possibly damaging Het
Or2b6 T A 13: 21,822,779 (GRCm39) I305F probably benign Het
Or8u3-ps A G 2: 85,952,282 (GRCm39) N5S possibly damaging Het
Pde5a A G 3: 122,611,679 (GRCm39) D571G probably damaging Het
Pgc A G 17: 48,045,111 (GRCm39) E343G probably benign Het
Pik3cd A G 4: 149,739,040 (GRCm39) F667L possibly damaging Het
Prf1 G A 10: 61,135,934 (GRCm39) R70H possibly damaging Het
Ptprb C T 10: 116,189,896 (GRCm39) Q1565* probably null Het
Rapgef4 T A 2: 72,036,077 (GRCm39) N523K probably benign Het
Rbm25 T C 12: 83,719,651 (GRCm39) L557P probably damaging Het
Rhobtb3 C T 13: 76,026,976 (GRCm39) V466I probably benign Het
Rnpep A G 1: 135,206,596 (GRCm39) V166A probably benign Het
Sgo2a A G 1: 58,056,954 (GRCm39) K1046R probably benign Het
Slc12a2 T C 18: 58,037,465 (GRCm39) V525A probably benign Het
Slc1a4 A T 11: 20,256,487 (GRCm39) I448N probably damaging Het
Slc29a4 C T 5: 142,704,261 (GRCm39) P305L probably benign Het
Slc9a5 T A 8: 106,089,885 (GRCm39) probably null Het
Spag16 A T 1: 69,926,679 (GRCm39) N258I possibly damaging Het
Sspo T A 6: 48,443,633 (GRCm39) L2076Q probably damaging Het
Tbc1d9b T C 11: 50,035,947 (GRCm39) F148L probably damaging Het
Tm4sf1 A G 3: 57,202,176 (GRCm39) Y12H probably benign Het
Traj6 C T 14: 54,450,171 (GRCm39) T9M Het
Ttll4 A G 1: 74,726,418 (GRCm39) N672S possibly damaging Het
Ube3a T A 7: 58,953,437 (GRCm39) H790Q possibly damaging Het
Usp49 G A 17: 47,983,205 (GRCm39) R70Q probably benign Het
Vmn2r32 C T 7: 7,470,373 (GRCm39) V515M possibly damaging Het
Wars1 A G 12: 108,848,801 (GRCm39) S49P probably benign Het
Zbp1 T A 2: 173,049,604 (GRCm39) Q386L possibly damaging Het
Zfp369 T C 13: 65,427,087 (GRCm39) F10S unknown Het
Zfp512 C G 5: 31,630,883 (GRCm39) I408M possibly damaging Het
Zfp952 A G 17: 33,222,756 (GRCm39) I412V probably benign Het
Other mutations in Taok1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01598:Taok1 APN 11 77,462,510 (GRCm39) missense probably damaging 1.00
IGL01629:Taok1 APN 11 77,429,030 (GRCm39) missense possibly damaging 0.63
IGL02198:Taok1 APN 11 77,466,503 (GRCm39) splice site probably benign
IGL02392:Taok1 APN 11 77,440,178 (GRCm39) missense probably benign 0.13
IGL02415:Taok1 APN 11 77,431,066 (GRCm39) unclassified probably benign
IGL02428:Taok1 APN 11 77,440,103 (GRCm39) missense probably benign 0.01
IGL02972:Taok1 APN 11 77,450,584 (GRCm39) missense probably benign 0.04
IGL03200:Taok1 APN 11 77,466,478 (GRCm39) nonsense probably null
IGL03203:Taok1 APN 11 77,430,911 (GRCm39) missense probably damaging 0.96
IGL03292:Taok1 APN 11 77,430,962 (GRCm39) missense probably benign 0.07
IGL03351:Taok1 APN 11 77,451,154 (GRCm39) missense probably damaging 0.96
R7569_taok1_653 UTSW 11 77,446,440 (GRCm39) missense probably benign 0.06
R0070:Taok1 UTSW 11 77,444,543 (GRCm39) missense probably benign
R0497:Taok1 UTSW 11 77,464,630 (GRCm39) missense probably damaging 0.97
R0535:Taok1 UTSW 11 77,444,530 (GRCm39) missense probably benign 0.00
R0558:Taok1 UTSW 11 77,450,670 (GRCm39) missense possibly damaging 0.89
R0653:Taok1 UTSW 11 77,469,550 (GRCm39) critical splice donor site probably null
R1249:Taok1 UTSW 11 77,462,463 (GRCm39) missense probably damaging 1.00
R1424:Taok1 UTSW 11 77,440,190 (GRCm39) missense probably benign 0.00
R1597:Taok1 UTSW 11 77,470,626 (GRCm39) missense probably benign 0.31
R2112:Taok1 UTSW 11 77,462,472 (GRCm39) missense probably benign 0.01
R3716:Taok1 UTSW 11 77,432,636 (GRCm39) missense probably benign 0.09
R4013:Taok1 UTSW 11 77,450,659 (GRCm39) missense possibly damaging 0.95
R4058:Taok1 UTSW 11 77,440,264 (GRCm39) missense probably benign 0.05
R4831:Taok1 UTSW 11 77,444,500 (GRCm39) missense probably null 0.34
R5036:Taok1 UTSW 11 77,440,157 (GRCm39) missense probably benign 0.01
R5917:Taok1 UTSW 11 77,451,144 (GRCm39) missense probably damaging 0.99
R6271:Taok1 UTSW 11 77,464,609 (GRCm39) missense probably damaging 1.00
R6286:Taok1 UTSW 11 77,444,599 (GRCm39) missense probably benign 0.00
R6860:Taok1 UTSW 11 77,432,627 (GRCm39) missense probably benign 0.01
R6933:Taok1 UTSW 11 77,446,479 (GRCm39) missense probably benign
R7139:Taok1 UTSW 11 77,462,459 (GRCm39) missense probably damaging 1.00
R7143:Taok1 UTSW 11 77,428,814 (GRCm39) missense probably benign
R7305:Taok1 UTSW 11 77,432,500 (GRCm39) nonsense probably null
R7340:Taok1 UTSW 11 77,470,643 (GRCm39) missense possibly damaging 0.89
R7569:Taok1 UTSW 11 77,446,440 (GRCm39) missense probably benign 0.06
R7753:Taok1 UTSW 11 77,428,725 (GRCm39) missense probably benign 0.29
R8064:Taok1 UTSW 11 77,440,130 (GRCm39) nonsense probably null
R8130:Taok1 UTSW 11 77,470,659 (GRCm39) missense possibly damaging 0.84
R8332:Taok1 UTSW 11 77,432,545 (GRCm39) missense possibly damaging 0.93
R8768:Taok1 UTSW 11 77,444,712 (GRCm39) missense probably damaging 1.00
R8775:Taok1 UTSW 11 77,470,632 (GRCm39) missense probably benign 0.42
R8775-TAIL:Taok1 UTSW 11 77,470,632 (GRCm39) missense probably benign 0.42
Z1176:Taok1 UTSW 11 77,450,752 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGCATCAGACACTGCATATTG -3'
(R):5'- AAGGACTTGGAACATGCAATGC -3'

Sequencing Primer
(F):5'- AGAGGTCCTGACTTCAATTCTCAG -3'
(R):5'- GGACTTGGAACATGCAATGCTATTG -3'
Posted On 2019-10-17