Incidental Mutation 'R2372:Dok6'
ID 248184
Institutional Source Beutler Lab
Gene Symbol Dok6
Ensembl Gene ENSMUSG00000073514
Gene Name docking protein 6
Synonyms Dok-6
MMRRC Submission 040352-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R2372 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 89310548-89787652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 89432988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 274 (R274G)
Ref Sequence ENSEMBL: ENSMUSP00000095103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097495]
AlphaFold Q2MHE5
Predicted Effect probably null
Transcript: ENSMUST00000097495
AA Change: R274G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000095103
Gene: ENSMUSG00000073514
AA Change: R274G

DomainStartEndE-ValueType
PH 8 114 8.99e-7 SMART
PTBI 130 232 4.39e-45 SMART
IRS 135 232 4.87e-41 SMART
low complexity region 316 328 N/A INTRINSIC
Meta Mutation Damage Score 0.1652 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 97% (36/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,009,704 (GRCm39) L135S probably damaging Het
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Alpi G T 1: 87,028,316 (GRCm39) T169N probably damaging Het
Ccdc15 T C 9: 37,226,801 (GRCm39) D378G possibly damaging Het
Cpb2 T G 14: 75,505,490 (GRCm39) V162G probably damaging Het
Dnmbp T C 19: 43,890,759 (GRCm39) E336G probably benign Het
Eef1d G A 15: 75,768,166 (GRCm39) R199C probably damaging Het
Epha8 T C 4: 136,660,321 (GRCm39) Y714C probably damaging Het
Fyb1 T C 15: 6,681,388 (GRCm39) probably benign Het
Gfpt2 A G 11: 49,698,542 (GRCm39) N46D probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gm11596 C A 11: 99,684,082 (GRCm39) E13* probably null Het
Gsx2 T C 5: 75,237,713 (GRCm39) F222L probably damaging Het
Hpca T A 4: 129,012,237 (GRCm39) K100* probably null Het
Iqsec1 A G 6: 90,671,636 (GRCm39) S89P probably damaging Het
Kif12 T A 4: 63,086,796 (GRCm39) T347S possibly damaging Het
Knop1 A G 7: 118,452,440 (GRCm39) L93S probably damaging Het
Mib1 A G 18: 10,812,045 (GRCm39) T981A probably damaging Het
N4bp2l1 C T 5: 150,496,246 (GRCm39) E123K probably damaging Het
Npr2 C T 4: 43,650,432 (GRCm39) R976W probably damaging Het
Rbpj T C 5: 53,799,537 (GRCm39) probably benign Het
Ro60 C A 1: 143,646,620 (GRCm39) E42* probably null Het
Ruvbl1 T C 6: 88,462,779 (GRCm39) V301A possibly damaging Het
Sgip1 T C 4: 102,766,988 (GRCm39) probably null Het
Sh3bp2 T C 5: 34,716,840 (GRCm39) I361T probably benign Het
Skint1 T A 4: 111,876,348 (GRCm39) Y90N probably damaging Het
Slc25a45 G A 19: 5,934,580 (GRCm39) V183I probably benign Het
Slco4c1 T A 1: 96,748,925 (GRCm39) H664L probably benign Het
Sult2a4 T A 7: 13,649,225 (GRCm39) I194L probably benign Het
Tecta C A 9: 42,299,570 (GRCm39) D173Y probably damaging Het
Tnrc18 T A 5: 142,745,459 (GRCm39) probably benign Het
Use1 T C 8: 71,821,823 (GRCm39) L169P possibly damaging Het
Zfp335 A G 2: 164,736,959 (GRCm39) L918P probably damaging Het
Zfp451 A T 1: 33,819,133 (GRCm39) probably null Het
Other mutations in Dok6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1884:Dok6 UTSW 18 89,492,130 (GRCm39) missense probably damaging 1.00
R1984:Dok6 UTSW 18 89,578,234 (GRCm39) missense probably damaging 1.00
R2369:Dok6 UTSW 18 89,432,988 (GRCm39) missense probably null 0.00
R4572:Dok6 UTSW 18 89,492,071 (GRCm39) missense possibly damaging 0.95
R4587:Dok6 UTSW 18 89,319,320 (GRCm39) missense probably benign 0.06
R4658:Dok6 UTSW 18 89,491,971 (GRCm39) splice site probably benign
R5241:Dok6 UTSW 18 89,616,913 (GRCm39) missense possibly damaging 0.77
R5995:Dok6 UTSW 18 89,439,142 (GRCm39) missense possibly damaging 0.89
R7498:Dok6 UTSW 18 89,787,443 (GRCm39) start gained probably benign
R7614:Dok6 UTSW 18 89,492,067 (GRCm39) missense probably damaging 1.00
R7840:Dok6 UTSW 18 89,578,182 (GRCm39) missense probably benign 0.00
R8041:Dok6 UTSW 18 89,578,213 (GRCm39) missense possibly damaging 0.93
R8158:Dok6 UTSW 18 89,492,071 (GRCm39) missense probably benign 0.09
R8558:Dok6 UTSW 18 89,492,066 (GRCm39) missense probably damaging 1.00
R9046:Dok6 UTSW 18 89,787,221 (GRCm39) missense probably benign 0.04
R9352:Dok6 UTSW 18 89,492,133 (GRCm39) missense probably benign 0.37
R9629:Dok6 UTSW 18 89,491,988 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- GTTGCACCCTGAGAAAGTTG -3'
(R):5'- TTGACACAGCTATCCTTGAATAGGG -3'

Sequencing Primer
(F):5'- TTGCACCCTGAGAAAGTTGATAAGTG -3'
(R):5'- ATCCTTGAATAGGGAATTATCTGGG -3'
Posted On 2014-11-11