Incidental Mutation 'IGL03410:Dock5'
ID421757
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dock5
Ensembl Gene ENSMUSG00000044447
Gene Namededicator of cytokinesis 5
Synonymslr2, 1110060D06Rik, rlc
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.566) question?
Stock #IGL03410
Quality Score
Status
Chromosome14
Chromosomal Location67752135-67933442 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 67846086 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 125 (I125V)
Ref Sequence ENSEMBL: ENSMUSP00000036674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039135]
Predicted Effect probably benign
Transcript: ENSMUST00000039135
AA Change: I125V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447
AA Change: I125V

DomainStartEndE-ValueType
SH3 11 68 1.45e-13 SMART
Pfam:DOCK_N 71 434 9e-110 PFAM
Pfam:DOCK-C2 439 636 1.1e-57 PFAM
low complexity region 752 764 N/A INTRINSIC
Pfam:DHR-2 1133 1635 6.4e-99 PFAM
low complexity region 1663 1692 N/A INTRINSIC
low complexity region 1815 1824 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224823
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family act as guanine nucleotide exchange factors for small Rho family G proteins. The protein encoded by this gene is thought to associate with adaptors CRK and CRKL, and function in regulation of intestinal epithelial cell spreading and migration on collagen IV. Similar proteins in mouse and zebrafish also function in myoblast fusion. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mutations at this locus result in lens abnormalities involving cataracts and rupturing of the lens nucleus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,001,896 V409E probably damaging Het
1700086D15Rik A G 11: 65,152,567 probably benign Het
Apba1 A G 19: 23,937,581 N715S possibly damaging Het
Arfgef3 G T 10: 18,600,490 A1527D probably damaging Het
Cmtm2a G T 8: 104,283,869 P133T probably damaging Het
Cyp2d9 T C 15: 82,456,699 V483A probably benign Het
Dclre1b T A 3: 103,808,140 D14V probably damaging Het
Dok3 G T 13: 55,524,231 Y211* probably null Het
Fat4 T C 3: 38,891,176 V1406A probably damaging Het
Fbn2 A G 18: 58,050,243 F1790S possibly damaging Het
Gm13083 C A 4: 143,615,281 H93Q probably benign Het
Gm4787 A T 12: 81,379,174 M70K probably damaging Het
Gulp1 A T 1: 44,708,617 D10V probably damaging Het
Hagh T C 17: 24,860,942 probably benign Het
Htt A G 5: 34,799,445 E206G probably damaging Het
Hyou1 A G 9: 44,388,058 E682G probably benign Het
Igkv4-59 G T 6: 69,438,466 A35E probably damaging Het
Krt78 A G 15: 101,953,986 V80A probably damaging Het
Lars2 G A 9: 123,418,776 A333T possibly damaging Het
Lrrc4 G A 6: 28,830,516 R367W probably damaging Het
Med1 A T 11: 98,189,183 M44K possibly damaging Het
Mep1a T A 17: 43,478,095 probably null Het
Mmrn1 A G 6: 60,975,835 I367V probably benign Het
Myo18a T C 11: 77,848,004 L1677P probably damaging Het
Neb T C 2: 52,319,705 T246A probably benign Het
Nkiras1 A G 14: 18,280,073 R155G probably benign Het
Nrip1 T C 16: 76,292,491 N726S probably benign Het
Nyap2 A G 1: 81,241,441 T393A possibly damaging Het
Olfr1029 T A 2: 85,975,420 M59K probably damaging Het
Olfr1272 A G 2: 90,282,213 Y121H probably damaging Het
Olfr32 G A 2: 90,139,145 probably benign Het
Oprm1 A T 10: 6,830,051 I238F probably damaging Het
Pcnx2 T A 8: 125,887,040 E557D probably damaging Het
Pole A G 5: 110,324,559 I1563V probably benign Het
Prdx3 T G 19: 60,871,410 probably benign Het
Rgsl1 C T 1: 153,793,755 R295K probably null Het
Rhbdl2 T A 4: 123,829,670 L289* probably null Het
Rnps1 A G 17: 24,421,861 probably benign Het
Rpgrip1 A G 14: 52,158,366 probably benign Het
Ryr2 A T 13: 11,588,147 Y4518N probably damaging Het
Scyl3 A G 1: 163,944,867 N296S probably damaging Het
Sipa1l3 G A 7: 29,348,539 T1308M probably damaging Het
Slc39a9 A G 12: 80,644,888 D3G probably damaging Het
Slc4a9 A G 18: 36,529,687 E165G probably benign Het
Slc6a3 A T 13: 73,538,657 I48F probably benign Het
Stxbp3 C T 3: 108,802,160 C354Y probably damaging Het
Terb1 C A 8: 104,473,042 probably benign Het
Tfrc G A 16: 32,624,831 probably null Het
Toporsl A C 4: 52,611,134 R342S probably benign Het
Ttc26 T C 6: 38,385,500 L70P probably damaging Het
Ube2d3 T A 3: 135,465,217 W141R probably damaging Het
Vps13b G T 15: 35,910,340 V3417L probably benign Het
Other mutations in Dock5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Dock5 APN 14 67786889 splice site probably benign
IGL00930:Dock5 APN 14 67771077 missense probably damaging 1.00
IGL01525:Dock5 APN 14 67805720 splice site probably benign
IGL01759:Dock5 APN 14 67881259 nonsense probably null
IGL01941:Dock5 APN 14 67812232 missense probably damaging 1.00
IGL02025:Dock5 APN 14 67763287 missense probably damaging 1.00
IGL02093:Dock5 APN 14 67839543 splice site probably benign
IGL02179:Dock5 APN 14 67806496 splice site probably benign
IGL02208:Dock5 APN 14 67828450 missense probably benign 0.06
IGL02605:Dock5 APN 14 67828438 missense probably benign 0.18
IGL02608:Dock5 APN 14 67828439 missense probably benign 0.01
IGL02938:Dock5 APN 14 67757218 splice site probably benign
IGL02971:Dock5 APN 14 67757109 missense probably null 1.00
IGL02983:Dock5 APN 14 67764670 missense probably damaging 1.00
IGL03151:Dock5 APN 14 67866067 missense probably damaging 1.00
PIT4366001:Dock5 UTSW 14 67824674 missense possibly damaging 0.83
R0026:Dock5 UTSW 14 67846081 missense probably benign 0.00
R0058:Dock5 UTSW 14 67781036 missense probably benign 0.00
R0058:Dock5 UTSW 14 67781036 missense probably benign 0.00
R0112:Dock5 UTSW 14 67819641 missense probably benign
R0127:Dock5 UTSW 14 67846042 missense probably benign 0.13
R0144:Dock5 UTSW 14 67786286 missense probably benign 0.18
R0312:Dock5 UTSW 14 67795991 missense possibly damaging 0.82
R0360:Dock5 UTSW 14 67822680 splice site probably benign
R0364:Dock5 UTSW 14 67822680 splice site probably benign
R0496:Dock5 UTSW 14 67817518 missense probably damaging 1.00
R0506:Dock5 UTSW 14 67784792 splice site probably benign
R0586:Dock5 UTSW 14 67809032 missense probably damaging 1.00
R0597:Dock5 UTSW 14 67784934 intron probably null
R0625:Dock5 UTSW 14 67841163 missense probably benign
R1109:Dock5 UTSW 14 67806478 missense possibly damaging 0.80
R1221:Dock5 UTSW 14 67759161 missense probably benign 0.00
R1278:Dock5 UTSW 14 67839566 missense possibly damaging 0.80
R1927:Dock5 UTSW 14 67846062 missense possibly damaging 0.60
R1944:Dock5 UTSW 14 67757135 nonsense probably null
R1946:Dock5 UTSW 14 67786316 missense probably damaging 1.00
R2046:Dock5 UTSW 14 67812142 missense probably benign
R2101:Dock5 UTSW 14 67794010 missense probably benign 0.02
R2252:Dock5 UTSW 14 67784812 missense probably damaging 0.98
R2882:Dock5 UTSW 14 67839620 missense probably damaging 0.99
R3110:Dock5 UTSW 14 67857922 missense possibly damaging 0.72
R3112:Dock5 UTSW 14 67857922 missense possibly damaging 0.72
R4236:Dock5 UTSW 14 67756492 missense probably benign 0.02
R4242:Dock5 UTSW 14 67828490 missense probably benign 0.19
R4244:Dock5 UTSW 14 67774582 missense probably benign 0.41
R4646:Dock5 UTSW 14 67842779 missense probably benign 0.01
R4793:Dock5 UTSW 14 67800354 missense probably benign 0.26
R4841:Dock5 UTSW 14 67817563 missense probably damaging 0.98
R4842:Dock5 UTSW 14 67817563 missense probably damaging 0.98
R5159:Dock5 UTSW 14 67792289 missense probably benign 0.04
R5164:Dock5 UTSW 14 67817661 nonsense probably null
R5206:Dock5 UTSW 14 67763184 missense probably benign 0.35
R5207:Dock5 UTSW 14 67776284 missense probably benign 0.06
R5322:Dock5 UTSW 14 67770266 missense probably benign 0.41
R5374:Dock5 UTSW 14 67805756 missense possibly damaging 0.81
R5413:Dock5 UTSW 14 67764655 missense probably damaging 1.00
R5476:Dock5 UTSW 14 67814007 missense possibly damaging 0.92
R5504:Dock5 UTSW 14 67803086 missense probably benign 0.01
R5677:Dock5 UTSW 14 67777603 missense probably benign 0.00
R5773:Dock5 UTSW 14 67796058 missense possibly damaging 0.95
R5845:Dock5 UTSW 14 67841101 missense possibly damaging 0.82
R5957:Dock5 UTSW 14 67857994 missense probably benign
R6154:Dock5 UTSW 14 67859912 missense probably benign 0.03
R6268:Dock5 UTSW 14 67790275 nonsense probably null
R6393:Dock5 UTSW 14 67822602 missense probably benign 0.32
R6512:Dock5 UTSW 14 67824648 missense possibly damaging 0.93
R6759:Dock5 UTSW 14 67795996 missense probably benign 0.00
R7012:Dock5 UTSW 14 67822586 missense probably damaging 1.00
R7061:Dock5 UTSW 14 67770254 missense probably damaging 0.96
R7196:Dock5 UTSW 14 67756470 missense probably damaging 1.00
R7200:Dock5 UTSW 14 67771702 nonsense probably null
R7311:Dock5 UTSW 14 67828502 missense probably benign 0.25
X0023:Dock5 UTSW 14 67771088 missense probably benign 0.15
Posted On2016-08-02