Incidental Mutation 'IGL02416:Dock11'
ID292468
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: 0.151) question?
Stock #IGL02416
Quality Score
Status
ChromosomeX
Chromosomal Location35888832-36076562 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 36020086 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 1119 (V1119E)
Ref Sequence ENSEMBL: ENSMUSP00000110921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033419] [ENSMUST00000115266]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033419
AA Change: V1290E

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033419
Gene: ENSMUSG00000031093
AA Change: V1290E

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 probably damaging
Transcript: ENSMUST00000115266
AA Change: V1119E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110921
Gene: ENSMUSG00000031093
AA Change: V1119E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140175
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T C 14: 68,572,833 N227S probably null Het
Adgrf5 T G 17: 43,444,980 probably null Het
Arid2 G A 15: 96,350,055 G116D possibly damaging Het
Arsa T A 15: 89,474,788 H225L probably damaging Het
Atf6 T A 1: 170,747,157 K571* probably null Het
Bicdl1 A C 5: 115,663,885 L38R probably damaging Het
Cct4 T C 11: 23,002,868 S515P probably damaging Het
Celsr3 A C 9: 108,832,119 D1388A probably damaging Het
Clca2 T C 3: 145,085,016 T432A probably benign Het
Des T A 1: 75,362,728 probably null Het
Dysf A G 6: 84,192,914 N1763S possibly damaging Het
Emilin1 A G 5: 30,917,788 S458G possibly damaging Het
Fhdc1 T G 3: 84,445,228 M897L probably benign Het
Foxj1 T C 11: 116,332,003 S325G probably benign Het
Gm5407 A G 16: 49,296,887 noncoding transcript Het
Gm6576 T C 15: 27,025,987 noncoding transcript Het
Hells G A 19: 38,964,627 S743N probably benign Het
Ighv2-9-1 A T 12: 113,770,111 L30Q probably damaging Het
Iqgap1 A T 7: 80,726,038 L1363H probably damaging Het
Lrp2 T C 2: 69,469,633 D3025G probably damaging Het
Mef2d C T 3: 88,156,502 R79C probably damaging Het
Mical1 G T 10: 41,484,810 probably null Het
Micu2 A T 14: 57,923,965 V300E probably damaging Het
Mmgt2 T C 11: 62,664,877 L17P probably damaging Het
Olfr1182 A G 2: 88,446,830 I36T probably benign Het
Olfr371 T A 8: 85,231,033 C179* probably null Het
Olfr873 A T 9: 20,300,245 E15V probably benign Het
Pigb A G 9: 73,017,432 S482P probably benign Het
Pkd1l2 T A 8: 117,040,835 T1239S possibly damaging Het
Pou1f1 T C 16: 65,531,956 I187T probably damaging Het
Prox1 C T 1: 190,161,130 A373T probably benign Het
Rabgap1 T C 2: 37,561,950 I954T probably benign Het
Scube3 T G 17: 28,164,136 C429W probably damaging Het
Slco6b1 T A 1: 96,924,333 noncoding transcript Het
Strc A T 2: 121,369,058 I1300N probably damaging Het
Tdrd6 T A 17: 43,624,738 R1806S probably benign Het
Trpm8 T A 1: 88,360,716 L860Q probably damaging Het
Vmn1r8 A G 6: 57,036,620 R219G probably damaging Het
Wdr48 A G 9: 119,924,760 S649G probably damaging 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
IGL00963:Dock11 APN X 36032382 missense possibly damaging 0.63
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
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 On2015-04-16