Incidental Mutation 'IGL00570:Haus6'
ID6640
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Haus6
Ensembl Gene ENSMUSG00000038047
Gene NameHAUS augmin-like complex, subunit 6
Synonyms6230416J20Rik, D4Ertd27e
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.684) question?
Stock #IGL00570
Quality Score
Status
Chromosome4
Chromosomal Location86578855-86612055 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86607981 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 46 (F46L)
Ref Sequence ENSEMBL: ENSMUSP00000070504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070607] [ENSMUST00000125481]
Predicted Effect probably benign
Transcript: ENSMUST00000070607
AA Change: F46L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000070504
Gene: ENSMUSG00000038047
AA Change: F46L

DomainStartEndE-ValueType
Pfam:HAUS6_N 14 238 1.1e-77 PFAM
low complexity region 613 624 N/A INTRINSIC
low complexity region 771 785 N/A INTRINSIC
low complexity region 915 927 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123432
Predicted Effect probably benign
Transcript: ENSMUST00000125481
SMART Domains Protein: ENSMUSP00000118609
Gene: ENSMUSG00000038047

DomainStartEndE-ValueType
Pfam:HAUS6_N 43 69 2.3e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128381
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 a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E2.5 and E7.5 with delayed or incomplete clustering of microtubule-organizing centers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A G 5: 8,950,073 I1014V probably benign Het
Adam10 A G 9: 70,718,746 T99A possibly damaging Het
Adam11 A T 11: 102,776,350 I610F possibly damaging Het
Bcl2 T C 1: 106,712,358 T175A possibly damaging Het
Ccdc144b T A 3: 36,019,989 Y337F probably damaging Het
Col25a1 C T 3: 130,546,432 probably benign Het
Dlat A T 9: 50,645,032 probably benign Het
Enah T C 1: 181,935,696 probably benign Het
Gm29253 T C 1: 75,174,474 probably benign Het
Gsto1 T C 19: 47,857,936 V74A probably benign Het
Hdac3 G A 18: 37,944,121 probably benign Het
Mdn1 A G 4: 32,735,719 S3462G probably benign Het
Mki67 T C 7: 135,708,101 Y207C possibly damaging Het
Nat10 T A 2: 103,725,764 probably null Het
Nphp1 A C 2: 127,763,885 V340G probably damaging Het
Nrap C T 19: 56,338,113 G1170E probably benign Het
Plcg1 T A 2: 160,757,266 V878E probably damaging Het
Pld4 T C 12: 112,763,491 F69S probably benign Het
Scn9a A G 2: 66,484,142 I1733T probably damaging Het
Slc6a2 T C 8: 92,997,057 V601A possibly damaging Het
Ubr1 A G 2: 120,941,093 I438T possibly damaging Het
Unc93a C A 17: 13,120,756 probably null Het
Zfp616 G A 11: 74,085,805 A967T probably benign Het
Other mutations in Haus6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02307:Haus6 APN 4 86583835 missense possibly damaging 0.53
IGL03113:Haus6 APN 4 86583106 nonsense probably null
IGL03384:Haus6 APN 4 86583525 missense probably benign
R0436:Haus6 UTSW 4 86585807 missense probably benign 0.00
R0491:Haus6 UTSW 4 86602846 missense possibly damaging 0.93
R0620:Haus6 UTSW 4 86583514 missense possibly damaging 0.53
R1118:Haus6 UTSW 4 86585326 critical splice donor site probably null
R1969:Haus6 UTSW 4 86604246 missense probably damaging 0.99
R1985:Haus6 UTSW 4 86593609 missense possibly damaging 0.96
R2213:Haus6 UTSW 4 86581992 missense possibly damaging 0.53
R2448:Haus6 UTSW 4 86589001 missense possibly damaging 0.53
R2567:Haus6 UTSW 4 86585885 nonsense probably null
R2760:Haus6 UTSW 4 86583176 nonsense probably null
R3714:Haus6 UTSW 4 86602867 missense probably benign 0.01
R3962:Haus6 UTSW 4 86611804 missense possibly damaging 0.85
R4180:Haus6 UTSW 4 86583574 missense probably benign 0.00
R4736:Haus6 UTSW 4 86600749 critical splice donor site probably null
R4738:Haus6 UTSW 4 86600749 critical splice donor site probably null
R4929:Haus6 UTSW 4 86595433 missense probably benign 0.03
R4933:Haus6 UTSW 4 86585287 intron probably benign
R5027:Haus6 UTSW 4 86605696 missense possibly damaging 0.92
R5199:Haus6 UTSW 4 86582985 missense possibly damaging 0.85
R5240:Haus6 UTSW 4 86583178 missense possibly damaging 0.86
R5580:Haus6 UTSW 4 86599266 missense possibly damaging 0.73
R5781:Haus6 UTSW 4 86601263 missense possibly damaging 0.92
R5865:Haus6 UTSW 4 86586357 missense possibly damaging 0.73
R5926:Haus6 UTSW 4 86599316 missense probably benign
R6154:Haus6 UTSW 4 86583756 missense possibly damaging 0.96
R7166:Haus6 UTSW 4 86583687 missense possibly damaging 0.72
R7183:Haus6 UTSW 4 86583752 missense possibly damaging 0.53
R7418:Haus6 UTSW 4 86594773 missense possibly damaging 0.73
R7843:Haus6 UTSW 4 86586341 missense possibly damaging 0.85
R7926:Haus6 UTSW 4 86586341 missense possibly damaging 0.85
Z1088:Haus6 UTSW 4 86602874 missense possibly damaging 0.71
Posted On2012-04-20