Incidental Mutation 'IGL00963:Dock11'
ID29594
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dock11
Ensembl Gene ENSMUSG00000031093
Gene Namededicator of cytokinesis 11
SynonymsZizimin2, 5033414A21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.242) question?
Stock #IGL00963
Quality Score
Status
ChromosomeX
Chromosomal Location35888832-36076562 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36032382 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 1197 (Q1197R)
Ref Sequence ENSEMBL: ENSMUSP00000110921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033419] [ENSMUST00000115266]
Predicted Effect probably benign
Transcript: ENSMUST00000033419
AA Change: Q1368R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000033419
Gene: ENSMUSG00000031093
AA Change: Q1368R

DomainStartEndE-ValueType
Pfam:DUF3398 52 145 4.2e-39 PFAM
PH 166 274 1.4e-17 SMART
Blast:PH 329 440 4e-58 BLAST
Pfam:DOCK-C2 636 827 2.4e-53 PFAM
low complexity region 1254 1270 N/A INTRINSIC
Pfam:DHR-2 1510 2029 7.3e-210 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115266
AA Change: Q1197R

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110921
Gene: ENSMUSG00000031093
AA Change: Q1197R

DomainStartEndE-ValueType
PH 1 90 6.82e-7 SMART
Blast:PH 145 256 5e-58 BLAST
Pfam:DOCK-C2 451 644 1.3e-60 PFAM
low complexity region 1083 1099 N/A INTRINSIC
low complexity region 1521 1529 N/A INTRINSIC
Pfam:Ded_cyto 1681 1858 1.2e-68 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI606181 A C 19: 41,593,789 probably benign Het
Alyref2 C T 1: 171,504,248 Q198* probably null Het
Ankrd13a T C 5: 114,801,802 S497P probably damaging Het
Chd5 C A 4: 152,382,938 N1644K probably damaging Het
Col13a1 T C 10: 61,838,697 probably benign Het
Ctnna3 T A 10: 64,945,949 D730E probably damaging Het
Drosha T A 15: 12,925,997 I1224N probably damaging Het
Dsc1 T C 18: 20,111,986 K42R probably null Het
Engase A G 11: 118,482,998 D322G probably damaging Het
Ephb2 T C 4: 136,658,951 D829G probably benign Het
Fgfr2 C T 7: 130,228,761 M47I probably damaging Het
Gad1-ps G T 10: 99,445,448 noncoding transcript Het
Gatb A G 3: 85,618,948 S378G probably benign Het
Hivep2 G A 10: 14,129,347 S563N probably damaging Het
Irs2 G A 8: 11,005,867 A855V probably benign Het
Jagn1 T C 6: 113,447,475 S103P probably damaging Het
Kdm6a T A X: 18,246,426 probably benign Het
Lmcd1 T C 6: 112,329,934 C356R probably damaging Het
Mefv T A 16: 3,715,720 Y229F possibly damaging Het
Myef2 T C 2: 125,115,475 Y120C probably damaging Het
Myo9a T G 9: 59,900,372 I2074S probably damaging Het
Nhs A G X: 161,847,049 S337P probably damaging Het
Nphp4 T G 4: 152,537,861 H566Q probably benign Het
Olfr618 T A 7: 103,597,637 probably null Het
Olfr715 A T 7: 107,129,065 C109* probably null Het
Pabpc2 C A 18: 39,775,337 Q552K possibly damaging Het
Podn T A 4: 108,022,174 N104I probably damaging Het
Rit1 T C 3: 88,726,431 V94A probably damaging Het
Scn7a A T 2: 66,703,945 probably benign Het
Sept4 A T 11: 87,583,373 K29M possibly damaging Het
Sowahb T C 5: 93,044,011 Y283C probably damaging Het
Srbd1 A T 17: 86,115,209 W460R probably damaging Het
Svep1 T A 4: 58,072,791 K2173* probably null Het
Tlr6 T C 5: 64,954,676 N296S possibly damaging Het
Trpm8 A G 1: 88,379,827 D1073G possibly damaging Het
Ttc28 A T 5: 111,286,389 K2399* probably null Het
Ttn A G 2: 76,887,283 probably benign Het
Uroc1 C T 6: 90,338,828 T189I probably benign Het
Usp18 C T 6: 121,255,382 Q122* probably null Het
Zfp420 T C 7: 29,875,093 I246T probably damaging Het
Zfp644 T C 5: 106,638,637 probably null Het
Zfp871 A T 17: 32,774,752 V483E probably benign Het
Other mutations in Dock11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00536:Dock11 APN X 35994434 missense probably benign 0.15
IGL00650:Dock11 APN X 36006593 splice site probably benign
IGL00769:Dock11 APN X 36004062 missense possibly damaging 0.74
IGL01389:Dock11 APN X 35993048 missense probably benign 0.43
IGL01410:Dock11 APN X 36037643 missense probably damaging 1.00
IGL01519:Dock11 APN X 35963353 missense probably benign
IGL02023:Dock11 APN X 35968769 missense probably benign 0.09
IGL02253:Dock11 APN X 36041128 missense probably damaging 1.00
IGL02416:Dock11 APN X 36020086 missense probably damaging 0.97
IGL02583:Dock11 APN X 36006717 missense possibly damaging 0.48
IGL03014:Dock11 APN X 36047046 splice site probably benign
IGL03037:Dock11 APN X 36047046 splice site probably benign
IGL03065:Dock11 APN X 36047046 splice site probably benign
IGL03277:Dock11 APN X 36013950 missense probably benign 0.32
R0816:Dock11 UTSW X 36020035 missense probably damaging 1.00
R0819:Dock11 UTSW X 36020035 missense probably damaging 1.00
R0820:Dock11 UTSW X 36020035 missense probably damaging 1.00
R1430:Dock11 UTSW X 36069912 missense probably benign 0.00
R1512:Dock11 UTSW X 36020035 missense probably damaging 1.00
Z1088:Dock11 UTSW X 36002533 missense probably benign 0.01
Z1176:Dock11 UTSW X 35984848 missense possibly damaging 0.69
Posted On2013-04-17