Incidental Mutation 'R2369:Dok6'
ID 246449
Institutional Source Beutler Lab
Gene Symbol Dok6
Ensembl Gene ENSMUSG00000073514
Gene Name docking protein 6
Synonyms Dok-6
MMRRC Submission 040349-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R2369 (G1)
Quality Score 225
Status Not 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: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik A T 1: 57,421,950 (GRCm39) N109Y possibly damaging Het
9230112D13Rik A T 14: 34,233,913 (GRCm39) I126N unknown Het
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Ahcyl1 T C 3: 107,577,556 (GRCm39) D288G probably damaging Het
Atxn7l1 T C 12: 33,408,849 (GRCm39) probably null Het
Ccdc33 A T 9: 57,983,913 (GRCm39) S220T probably benign Het
Celsr3 G A 9: 108,719,751 (GRCm39) R2450H probably benign Het
Cubn T A 2: 13,496,028 (GRCm39) K69N probably damaging Het
Dclk3 A G 9: 111,317,610 (GRCm39) R749G probably benign Het
Dip2a T C 10: 76,149,030 (GRCm39) N207S probably benign Het
Esco2 G A 14: 66,059,189 (GRCm39) A496V probably damaging Het
Gbp5 A T 3: 142,206,480 (GRCm39) M55L possibly damaging Het
Grik5 T C 7: 24,757,962 (GRCm39) Y373C probably damaging Het
Hbs1l T A 10: 21,183,644 (GRCm39) S128R probably benign Het
Ing3 A G 6: 21,950,090 (GRCm39) M28V probably damaging Het
Lmtk3 A T 7: 45,444,512 (GRCm39) probably benign Het
Met G A 6: 17,531,527 (GRCm39) V602I probably benign Het
Ndufaf7 C A 17: 79,252,461 (GRCm39) A290E probably damaging Het
Notch4 A G 17: 34,804,924 (GRCm39) Q1593R probably benign Het
Npl A G 1: 153,394,623 (GRCm39) probably null Het
Paqr6 T C 3: 88,273,260 (GRCm39) L84P probably damaging Het
Pros1 A G 16: 62,748,432 (GRCm39) Y635C probably damaging Het
Rad1 C A 15: 10,486,745 (GRCm39) N47K probably damaging Het
Rassf4 A G 6: 116,615,258 (GRCm39) F304L probably damaging Het
Tmem232 A T 17: 65,709,992 (GRCm39) V432E probably damaging Het
Wdr72 A G 9: 74,117,457 (GRCm39) K723R possibly damaging Het
Xpo7 G A 14: 70,925,171 (GRCm39) R493* probably null Het
Zfp11 G A 5: 129,733,529 (GRCm39) P644L probably benign 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
R2372: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'- TGACACAGCTATCCTTGAATAGG -3'

Sequencing Primer
(F):5'- TTGCACCCTGAGAAAGTTGATAAGTG -3'
(R):5'- ATCCTTGAATAGGGAATTATCTGGG -3'
Posted On 2014-10-30