Incidental Mutation 'IGL02076:Dok1'
ID185988
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dok1
Ensembl Gene ENSMUSG00000068335
Gene Namedocking protein 1
Synonymsp62DOK
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.197) question?
Stock #IGL02076
Quality Score
Status
Chromosome6
Chromosomal Location83030934-83033471 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83032831 bp
ZygosityHeterozygous
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]
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: ENSMUST00000204891
Predicted Effect probably benign
Transcript: ENSMUST00000204900
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: 8,136,900 Y407C probably damaging Het
Capn5 T A 7: 98,131,743 K276* probably null Het
Cct4 T C 11: 23,002,394 V495A probably damaging Het
Dapk3 A G 10: 81,190,297 K141E probably damaging Het
Diexf T C 1: 193,130,059 H31R probably damaging Het
Dnah2 T C 11: 69,422,559 N4264S probably damaging Het
Ebf3 A G 7: 137,231,301 V215A possibly damaging Het
Efnb2 A G 8: 8,660,488 S43P probably benign Het
Jhy G A 9: 40,917,378 Q411* probably null Het
Krt73 G A 15: 101,799,935 T229I probably damaging Het
Mroh8 A G 2: 157,271,962 probably null Het
Olfm1 A G 2: 28,222,625 T223A probably damaging Het
Olfr32 T A 2: 90,138,815 E108V probably damaging Het
Olfr937 A G 9: 39,060,585 L27P probably damaging Het
Oprk1 T A 1: 5,602,289 D216E probably damaging Het
Pim1 T A 17: 29,493,803 I230N probably damaging Het
Ppm1f A C 16: 16,914,171 T162P possibly damaging Het
Rbbp8 T C 18: 11,705,819 Y186H probably damaging Het
Sema4a C T 3: 88,450,522 R225H probably damaging Het
Slc15a2 A C 16: 36,762,381 F215C probably damaging Het
Slc25a1 A G 16: 17,927,626 C41R possibly damaging Het
Stil C A 4: 115,023,637 H459Q probably benign Het
Tbc1d32 A G 10: 56,088,403 I900T possibly damaging Het
Tmem33 T C 5: 67,286,103 F208L probably damaging Het
Vmn2r72 A G 7: 85,738,367 V663A probably damaging Het
Other mutations in Dok1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01652:Dok1 APN 6 83032562 missense probably damaging 1.00
IGL01680:Dok1 APN 6 83031312 missense possibly damaging 0.91
IGL02341:Dok1 APN 6 83033054 missense probably damaging 1.00
IGL02706:Dok1 APN 6 83032334 missense probably damaging 1.00
R0417:Dok1 UTSW 6 83031569 missense probably damaging 1.00
R1169:Dok1 UTSW 6 83032048 missense possibly damaging 0.90
R1859:Dok1 UTSW 6 83032245 missense probably damaging 1.00
R5007:Dok1 UTSW 6 83032316 missense probably damaging 1.00
R5048:Dok1 UTSW 6 83032106 intron probably benign
R7618:Dok1 UTSW 6 83032891 missense probably benign 0.01
Posted On2014-05-07