Incidental Mutation 'IGL02341:Dok1'
ID 289078
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: 0.130) question?
Stock # IGL02341
Quality Score
Status
Chromosome 6
Chromosomal Location 83007915-83010448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83010035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 25 (T25A)
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: T25A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087079
Gene: ENSMUSG00000068335
AA Change: T25A

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 unknown
Transcript: ENSMUST00000149918
AA Change: N24S
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 C T 15: 96,270,066 (GRCm39) S1393L probably benign Het
Bahcc1 T A 11: 120,163,346 (GRCm39) I548N probably damaging Het
Baiap3 A T 17: 25,467,290 (GRCm39) L405Q possibly damaging Het
Cacna1g T G 11: 94,352,978 (GRCm39) Q349P probably damaging Het
Ccdc30 T C 4: 119,213,978 (GRCm39) T184A possibly damaging Het
Ccdc63 A G 5: 122,251,261 (GRCm39) I383T probably benign Het
Ccnk A G 12: 108,161,989 (GRCm39) E298G unknown Het
Ccnt1 T C 15: 98,444,664 (GRCm39) E223G possibly damaging Het
Clcc1 T A 3: 108,580,699 (GRCm39) L333I possibly damaging Het
Cyp2b10 G A 7: 25,610,667 (GRCm39) R59Q probably benign Het
Cyp3a41b T A 5: 145,510,461 (GRCm39) T138S probably benign Het
Dennd4a C T 9: 64,749,843 (GRCm39) R145* probably null Het
Dnah8 A T 17: 30,966,231 (GRCm39) I2474F probably damaging Het
Ears2 G A 7: 121,638,987 (GRCm39) A479V probably benign Het
Erc1 T A 6: 119,571,934 (GRCm39) I981F possibly damaging Het
Gm8730 A G 8: 103,591,775 (GRCm39) noncoding transcript Het
Gm9962 C T 7: 57,037,042 (GRCm39) probably benign Het
Has3 A T 8: 107,600,637 (GRCm39) Y33F probably damaging Het
Hk1 A G 10: 62,120,159 (GRCm39) S607P possibly damaging Het
Hlcs T A 16: 94,031,969 (GRCm39) I612F probably damaging Het
Llgl2 T A 11: 115,741,946 (GRCm39) S663T possibly damaging Het
Lrriq1 T C 10: 103,060,802 (GRCm39) H100R probably benign Het
Lypd8l T C 11: 58,503,656 (GRCm39) S17G possibly damaging Het
Magi2 T A 5: 20,671,201 (GRCm39) I678N probably damaging Het
Megf11 G A 9: 64,451,902 (GRCm39) G109S probably damaging Het
Morc2b A T 17: 33,356,281 (GRCm39) I497K probably damaging Het
Mybpc2 A C 7: 44,164,354 (GRCm39) S404A probably benign Het
Mylip A G 13: 45,544,752 (GRCm39) R59G probably damaging Het
Mylk3 A T 8: 86,078,601 (GRCm39) I501N probably damaging Het
Myo19 A G 11: 84,778,871 (GRCm39) probably benign Het
Nat2 A G 8: 67,954,370 (GRCm39) Y160C possibly damaging Het
Nf1 C T 11: 79,455,752 (GRCm39) A2554V probably benign Het
Niban3 A T 8: 72,056,443 (GRCm39) N381I possibly damaging Het
Ninl A T 2: 150,786,525 (GRCm39) C153* probably null Het
Nlrp5 C T 7: 23,103,577 (GRCm39) R15C probably benign Het
Nphp4 A T 4: 152,639,926 (GRCm39) probably benign Het
Obscn C A 11: 59,026,651 (GRCm39) R184L probably benign Het
Or6c202 T A 10: 128,996,302 (GRCm39) I184F probably benign Het
Or6c6c A T 10: 129,541,358 (GRCm39) T204S probably damaging Het
Or6c8 A T 10: 128,915,330 (GRCm39) C167* probably null Het
Phip A T 9: 82,814,936 (GRCm39) V262D probably damaging Het
Ptprg T A 14: 12,154,360 (GRCm38) S694T probably benign Het
Reck T A 4: 43,925,160 (GRCm39) D466E probably damaging Het
Rimbp2 G T 5: 128,878,025 (GRCm39) Y213* probably null Het
Scn2a C T 2: 65,518,721 (GRCm39) T365M probably damaging Het
Scpep1 T A 11: 88,835,314 (GRCm39) T120S probably benign Het
Sp7 T A 15: 102,267,657 (GRCm39) T50S possibly damaging Het
Tbc1d1 A G 5: 64,432,750 (GRCm39) R304G probably damaging Het
Tiam1 A G 16: 89,695,257 (GRCm39) S67P probably damaging Het
Tjp1 G A 7: 64,962,382 (GRCm39) T1185I probably damaging Het
Tspan2 T A 3: 102,672,529 (GRCm39) I178N probably damaging Het
Tusc2 T A 9: 107,442,109 (GRCm39) *103R probably null Het
Uggt1 A T 1: 36,203,600 (GRCm39) *47R probably null Het
Unc13c T A 9: 73,840,492 (GRCm39) I120F possibly damaging Het
Vcpip1 T A 1: 9,795,175 (GRCm39) K1065N possibly damaging Het
Zfp532 C A 18: 65,757,849 (GRCm39) P594Q 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
IGL02076:Dok1 APN 6 83,009,812 (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 2015-04-16