Incidental Mutation 'IGL00333:Haus8'
ID5027
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Haus8
Ensembl Gene ENSMUSG00000035439
Gene Name4HAUS augmin-like complex, subunit 8
SynonymsHice1, 2410004L22Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.779) question?
Stock #IGL00333
Quality Score
Status
Chromosome8
Chromosomal Location71248561-71272934 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 71255645 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035960] [ENSMUST00000110071] [ENSMUST00000123495]
Predicted Effect probably null
Transcript: ENSMUST00000035960
SMART Domains Protein: ENSMUSP00000040802
Gene: ENSMUSG00000035439

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
low complexity region 130 142 N/A INTRINSIC
coiled coil region 164 201 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000110071
SMART Domains Protein: ENSMUSP00000105698
Gene: ENSMUSG00000035439

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
low complexity region 129 141 N/A INTRINSIC
coiled coil region 163 200 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123495
SMART Domains Protein: ENSMUSP00000123517
Gene: ENSMUSG00000035439

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157039
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8b3 C T 10: 80,530,987 C259Y probably damaging Het
Bag6 T G 17: 35,144,651 D770E probably damaging Het
Ccdc8 T A 7: 16,996,042 D485E unknown Het
Cyp2c54 A C 19: 40,072,078 V153G probably damaging Het
Fam214a T C 9: 75,025,790 I1006T probably benign Het
Gm10471 A G 5: 26,086,493 M105T possibly damaging Het
Hgf A T 5: 16,611,882 T499S possibly damaging Het
Ifitm1 T A 7: 140,969,624 *107R probably null Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Klk1b27 T A 7: 44,056,143 probably null Het
Lpin2 C A 17: 71,243,972 T709K probably damaging Het
Lrig3 T C 10: 126,013,148 L945P probably benign Het
Lrrn4 C T 2: 132,870,817 C362Y probably damaging Het
Map3k20 T C 2: 72,371,976 S184P probably damaging Het
Nr2f1 A T 13: 78,189,833 V231E probably damaging Het
Olfr103 A T 17: 37,336,583 Y216* probably null Het
Orc1 T C 4: 108,595,325 probably benign Het
Osr1 A C 12: 9,579,432 I102L probably benign Het
Pcbd1 A T 10: 61,092,170 Q37L probably benign Het
Pclo C T 5: 14,521,677 Q359* probably null Het
Rpgrip1 A T 14: 52,150,438 probably null Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Sspo A G 6: 48,470,453 T2184A probably benign Het
Synpo2 C T 3: 123,113,210 G819D probably damaging Het
Taar8b A G 10: 24,091,756 V180A possibly damaging Het
Tbc1d8 T C 1: 39,394,129 D324G probably damaging Het
Tcaf2 A T 6: 42,630,036 L328* probably null Het
Tmem253 T C 14: 52,017,961 L76P probably damaging Het
Tsc1 G A 2: 28,661,611 V46I probably damaging Het
Ttn A T 2: 76,949,081 F1152I probably benign Het
Txnrd2 T C 16: 18,438,351 V139A probably damaging Het
Ublcp1 T C 11: 44,460,770 D212G probably damaging Het
Utrn A T 10: 12,671,830 L1622Q probably damaging Het
Vmn2r103 A G 17: 19,793,102 T162A probably damaging Het
Other mutations in Haus8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01298:Haus8 APN 8 71253113 missense probably damaging 1.00
IGL01455:Haus8 APN 8 71253231 missense probably benign 0.00
IGL02034:Haus8 APN 8 71255558 missense probably damaging 1.00
IGL02112:Haus8 APN 8 71255561 missense probably damaging 1.00
IGL02188:Haus8 APN 8 71257415 missense probably damaging 1.00
IGL02871:Haus8 APN 8 71256494 missense probably benign 0.00
IGL02939:Haus8 APN 8 71255717 splice site probably benign
R0486:Haus8 UTSW 8 71256537 missense probably damaging 1.00
R0486:Haus8 UTSW 8 71256538 missense probably benign 0.01
R0648:Haus8 UTSW 8 71256530 missense probably damaging 1.00
R1848:Haus8 UTSW 8 71256123 intron probably benign
R2327:Haus8 UTSW 8 71255645 critical splice donor site probably null
R4575:Haus8 UTSW 8 71263092 missense probably damaging 0.99
R5294:Haus8 UTSW 8 71255710 missense unknown
R6424:Haus8 UTSW 8 71251436 nonsense probably null
R7231:Haus8 UTSW 8 71253137 missense probably benign 0.00
Posted On2012-04-20