Incidental Mutation 'IGL02076:Dok1'
ID 185988
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dok1
Ensembl Gene ENSMUSG00000068335
Gene Name docking protein 1
Synonyms p62DOK
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # IGL02076
Quality Score
Status
Chromosome 6
Chromosomal Location 83007915-83010448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83009812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 99 (L99P)
Ref Sequence ENSEMBL: ENSMUSP00000087079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000707] [ENSMUST00000089651] [ENSMUST00000101257] [ENSMUST00000113980] [ENSMUST00000149918]
AlphaFold P97465
PDB Structure Crystal Structure of Dok1 PTB Domain [X-RAY DIFFRACTION]
Crystal Structure of Dok1 PTB Domain Complex [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000000707
SMART Domains Protein: ENSMUSP00000000707
Gene: ENSMUSG00000000693

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
SR 45 146 2.1e-50 SMART
SR 170 283 1.09e-25 SMART
SR 308 408 3.72e-51 SMART
SR 418 526 8.5e-37 SMART
Pfam:Lysyl_oxidase 530 730 3.9e-103 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000089651
AA Change: L99P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087079
Gene: ENSMUSG00000068335
AA Change: L99P

DomainStartEndE-ValueType
PH 4 121 1.31e-8 SMART
IRS 151 254 1.21e-45 SMART
PTBI 152 254 3.84e-59 SMART
low complexity region 411 424 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101257
SMART Domains Protein: ENSMUSP00000098815
Gene: ENSMUSG00000000693

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
SR 45 146 2.1e-50 SMART
SR 170 283 1.09e-25 SMART
SR 308 396 5.46e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113980
SMART Domains Protein: ENSMUSP00000109613
Gene: ENSMUSG00000030041

DomainStartEndE-ValueType
low complexity region 151 163 N/A INTRINSIC
low complexity region 239 250 N/A INTRINSIC
low complexity region 446 457 N/A INTRINSIC
low complexity region 482 500 N/A INTRINSIC
low complexity region 504 512 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144906
Predicted Effect probably benign
Transcript: ENSMUST00000149918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152679
Predicted Effect probably benign
Transcript: ENSMUST00000204900
Predicted Effect probably benign
Transcript: ENSMUST00000204891
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a signal transduction pathway downstream of receptor tyrosine kinases. The encoded protein is a scaffold protein that helps form a platform for the assembly of multiprotein signaling complexes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice display mild abnormalities in myeloid cell proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,186,900 (GRCm39) Y407C probably damaging Het
Capn5 T A 7: 97,780,950 (GRCm39) K276* probably null Het
Cct4 T C 11: 22,952,394 (GRCm39) V495A probably damaging Het
Dapk3 A G 10: 81,026,131 (GRCm39) K141E probably damaging Het
Dnah2 T C 11: 69,313,385 (GRCm39) N4264S probably damaging Het
Ebf3 A G 7: 136,833,030 (GRCm39) V215A possibly damaging Het
Efnb2 A G 8: 8,710,488 (GRCm39) S43P probably benign Het
Jhy G A 9: 40,828,674 (GRCm39) Q411* probably null Het
Krt73 G A 15: 101,708,370 (GRCm39) T229I probably damaging Het
Mroh8 A G 2: 157,113,882 (GRCm39) probably null Het
Olfm1 A G 2: 28,112,637 (GRCm39) T223A probably damaging Het
Oprk1 T A 1: 5,672,512 (GRCm39) D216E probably damaging Het
Or4b1d T A 2: 89,969,159 (GRCm39) E108V probably damaging Het
Or8g23 A G 9: 38,971,881 (GRCm39) L27P probably damaging Het
Pim1 T A 17: 29,712,777 (GRCm39) I230N probably damaging Het
Ppm1f A C 16: 16,732,035 (GRCm39) T162P possibly damaging Het
Rbbp8 T C 18: 11,838,876 (GRCm39) Y186H probably damaging Het
Sema4a C T 3: 88,357,829 (GRCm39) R225H probably damaging Het
Slc15a2 A C 16: 36,582,743 (GRCm39) F215C probably damaging Het
Slc25a1 A G 16: 17,745,490 (GRCm39) C41R possibly damaging Het
Stil C A 4: 114,880,834 (GRCm39) H459Q probably benign Het
Tbc1d32 A G 10: 55,964,499 (GRCm39) I900T possibly damaging Het
Tmem33 T C 5: 67,443,446 (GRCm39) F208L probably damaging Het
Utp25 T C 1: 192,812,367 (GRCm39) H31R probably damaging Het
Vmn2r72 A G 7: 85,387,575 (GRCm39) V663A probably damaging Het
Other mutations in Dok1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01652:Dok1 APN 6 83,009,543 (GRCm39) missense probably damaging 1.00
IGL01680:Dok1 APN 6 83,008,293 (GRCm39) missense possibly damaging 0.91
IGL02341:Dok1 APN 6 83,010,035 (GRCm39) missense probably damaging 1.00
IGL02706:Dok1 APN 6 83,009,315 (GRCm39) missense probably damaging 1.00
R0417:Dok1 UTSW 6 83,008,550 (GRCm39) missense probably damaging 1.00
R1169:Dok1 UTSW 6 83,009,029 (GRCm39) missense possibly damaging 0.90
R1859:Dok1 UTSW 6 83,009,226 (GRCm39) missense probably damaging 1.00
R5007:Dok1 UTSW 6 83,009,297 (GRCm39) missense probably damaging 1.00
R5048:Dok1 UTSW 6 83,009,087 (GRCm39) intron probably benign
R7618:Dok1 UTSW 6 83,009,872 (GRCm39) missense probably benign 0.01
R8918:Dok1 UTSW 6 83,008,324 (GRCm39) missense probably benign 0.04
R9138:Dok1 UTSW 6 83,009,806 (GRCm39) missense probably damaging 1.00
R9248:Dok1 UTSW 6 83,008,893 (GRCm39) missense possibly damaging 0.94
R9381:Dok1 UTSW 6 83,009,972 (GRCm39) missense probably damaging 1.00
R9448:Dok1 UTSW 6 83,009,972 (GRCm39) missense probably damaging 1.00
R9495:Dok1 UTSW 6 83,009,972 (GRCm39) missense probably damaging 1.00
R9514:Dok1 UTSW 6 83,009,972 (GRCm39) missense probably damaging 1.00
R9516:Dok1 UTSW 6 83,009,972 (GRCm39) missense probably damaging 1.00
R9714:Dok1 UTSW 6 83,008,275 (GRCm39) missense probably benign
Posted On 2014-05-07