Incidental Mutation 'IGL03113:Haus6'
ID419274
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 #IGL03113
Quality Score
Status
Chromosome4
Chromosomal Location86578855-86612055 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 86583106 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 843 (Q843*)
Ref Sequence ENSEMBL: ENSMUSP00000070504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070607]
Predicted Effect probably null
Transcript: ENSMUST00000070607
AA Change: Q843*
SMART Domains Protein: ENSMUSP00000070504
Gene: ENSMUSG00000038047
AA Change: Q843*

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: ENSMUST00000128381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158333
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apof G A 10: 128,269,699 V241M probably benign Het
Arhgef10 T A 8: 14,954,505 I91N probably damaging Het
Arhgef17 G A 7: 100,929,731 T670I probably benign Het
Barhl1 T C 2: 28,915,456 D75G probably benign Het
Capn13 T C 17: 73,331,113 T432A probably benign Het
Casd1 T A 6: 4,640,951 Y691N probably damaging Het
Ccdc175 C A 12: 72,144,783 V340L probably benign Het
Cdc5l A T 17: 45,433,422 M5K possibly damaging Het
Cgn A G 3: 94,779,234 F253L probably benign Het
Csmd1 T C 8: 16,028,698 K2003R probably benign Het
Disp2 T A 2: 118,790,778 probably null Het
Dnah7a T C 1: 53,433,004 N3535D possibly damaging Het
Exoc3 G A 13: 74,193,113 Q191* probably null Het
Fstl5 T A 3: 76,429,792 Y219* probably null Het
Gad2 T A 2: 22,681,355 L435Q probably benign Het
Gcnt3 A G 9: 70,034,701 V195A probably damaging Het
Hivep2 T A 10: 14,130,651 F998I probably damaging Het
Hsf5 A T 11: 87,657,364 E624D probably benign Het
Klb A G 5: 65,383,470 N969D probably benign Het
Klhl6 T A 16: 19,957,251 S186C possibly damaging Het
Klk15 T C 7: 43,938,381 F78L probably benign Het
Ldlr A G 9: 21,739,828 E514G possibly damaging Het
Map9 T A 3: 82,359,978 probably benign Het
Miga2 A T 2: 30,384,010 I99F possibly damaging Het
Morc4 T C X: 139,857,856 E189G probably benign Het
Nhlrc3 A T 3: 53,458,563 Y170N possibly damaging Het
Olfr1138 T C 2: 87,738,162 Q54R probably benign Het
Olfr1216 A G 2: 89,014,035 F10L probably damaging Het
Olfr1321 T A X: 49,727,062 N291Y probably damaging Het
Olfr401 G A 11: 74,121,703 R138Q probably benign Het
Olfr623 A T 7: 103,660,644 V202D possibly damaging Het
Olfr654 A T 7: 104,588,733 R310W probably benign Het
Olfr951 A C 9: 39,394,685 K295T probably damaging Het
Pkd1l1 G A 11: 8,834,793 T1997I probably benign Het
Poln A G 5: 34,116,862 S377P probably benign Het
Rab22a T A 2: 173,661,472 V26E probably damaging Het
Rhbdl3 T C 11: 80,353,613 V382A possibly damaging Het
Slitrk3 G T 3: 73,050,390 Q350K probably benign Het
Sult1d1 A T 5: 87,559,879 Y127* probably null Het
Vmn1r73 A T 7: 11,756,600 Y115F probably benign Het
Zfp128 T A 7: 12,890,387 D227E probably benign Het
Other mutations in Haus6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Haus6 APN 4 86607981 missense probably benign 0.32
IGL02307:Haus6 APN 4 86583835 missense possibly damaging 0.53
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 On2016-08-02