Incidental Mutation 'IGL01652:Dok1'
ID102852
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: 0.185) question?
Stock #IGL01652
Quality Score
Status
Chromosome6
Chromosomal Location83030934-83033471 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 83032562 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 143 (N143D)
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: N143D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087079
Gene: ENSMUSG00000068335
AA Change: N143D

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk A T 17: 72,603,531 V60E probably damaging Het
Ank2 T C 3: 126,933,041 K868R probably benign Het
Ankrd13a A T 5: 114,791,336 D158V probably damaging Het
Arhgap12 G T 18: 6,061,853 N380K possibly damaging Het
Cpn1 A T 19: 43,986,094 F65L possibly damaging Het
Dlec1 T A 9: 119,143,907 H1496Q probably benign Het
Dock1 C T 7: 134,777,497 probably benign Het
Fcmr C T 1: 130,878,507 P363L probably benign Het
Galk2 A G 2: 125,896,765 T171A probably benign Het
Hrh3 G T 2: 180,101,103 P244Q possibly damaging Het
Icam1 T C 9: 21,019,176 Y109H probably damaging Het
Nup93 T C 8: 94,296,559 V132A possibly damaging Het
Olfr1218 A T 2: 89,054,569 Y286N probably damaging Het
Pla2g4f T C 2: 120,302,235 I707V possibly damaging Het
Rpgrip1 G A 14: 52,145,492 probably benign Het
Sbf2 A T 7: 110,447,120 V290E probably damaging Het
Stard3 T G 11: 98,378,733 probably benign Het
Sufu T C 19: 46,475,620 Y424H probably damaging Het
Trim35 T G 14: 66,308,801 V339G probably damaging Het
Vmn1r80 A G 7: 12,193,136 I58V probably benign Het
Other mutations in Dok1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Dok1 APN 6 83031312 missense possibly damaging 0.91
IGL02076:Dok1 APN 6 83032831 missense probably damaging 1.00
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 On2014-01-21