Incidental Mutation 'IGL01298:Haus8'
ID 73206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Haus8
Ensembl Gene ENSMUSG00000035439
Gene Name 4HAUS augmin-like complex, subunit 8
Synonyms 2410004L22Rik, Hice1
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # IGL01298
Quality Score
Status
Chromosome 8
Chromosomal Location 71703241-71725234 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71705757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 309 (E309G)
Ref Sequence ENSEMBL: ENSMUSP00000105698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035960] [ENSMUST00000110071] [ENSMUST00000123495]
AlphaFold Q99L00
Predicted Effect probably damaging
Transcript: ENSMUST00000035960
AA Change: E310G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040802
Gene: ENSMUSG00000035439
AA Change: E310G

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 damaging
Transcript: ENSMUST00000110071
AA Change: E309G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105698
Gene: ENSMUSG00000035439
AA Change: E309G

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: 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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2a G T 10: 75,169,326 (GRCm39) W263C probably damaging Het
Agtpbp1 G A 13: 59,652,040 (GRCm39) H424Y possibly damaging Het
Angpt2 T G 8: 18,760,544 (GRCm39) N186T probably benign Het
Ank2 A G 3: 126,753,369 (GRCm39) V304A possibly damaging Het
Atg3 T C 16: 44,992,036 (GRCm39) M88T possibly damaging Het
Baz1a G T 12: 55,001,594 (GRCm39) P142Q probably damaging Het
Btbd1 G T 7: 81,444,055 (GRCm39) probably null Het
Cacnb3 T C 15: 98,537,734 (GRCm39) Y70H probably damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Cyp7a1 A T 4: 6,275,517 (GRCm39) W19R probably damaging Het
Dock10 T A 1: 80,508,962 (GRCm39) I1610F probably damaging Het
Gm11444 C A 11: 85,738,920 (GRCm39) D58Y unknown Het
Gm7168 A T 17: 14,170,120 (GRCm39) T496S probably benign Het
Gpc5 A G 14: 115,636,600 (GRCm39) S428G probably benign Het
Ice1 A G 13: 70,753,023 (GRCm39) L1021P possibly damaging Het
Krtap14 A T 16: 88,622,615 (GRCm39) H121Q probably benign Het
Nwd1 T C 8: 73,388,959 (GRCm39) V170A probably benign Het
Or1j10 T A 2: 36,267,460 (GRCm39) M224K probably benign Het
Or6c3b T C 10: 129,527,898 (GRCm39) Y4C probably damaging Het
Or8g24 G A 9: 38,990,020 (GRCm39) T7I possibly damaging Het
Pfpl T C 19: 12,406,037 (GRCm39) M96T possibly damaging Het
Pramel5 A G 4: 143,997,732 (GRCm39) probably benign Het
Proc T C 18: 32,256,605 (GRCm39) N354S probably benign Het
Prss40 T G 1: 34,599,847 (GRCm39) I47L probably benign Het
Tmprss7 T C 16: 45,484,538 (GRCm39) R541G probably benign Het
Togaram2 T C 17: 72,023,508 (GRCm39) V788A possibly damaging Het
Trbv19 T C 6: 41,155,838 (GRCm39) Y70H probably damaging Het
Ttk C T 9: 83,747,195 (GRCm39) S678L probably benign Het
Vmn2r85 T C 10: 130,254,690 (GRCm39) T665A probably benign Het
Other mutations in Haus8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Haus8 APN 8 71,708,289 (GRCm39) critical splice donor site probably null
IGL01455:Haus8 APN 8 71,705,875 (GRCm39) missense probably benign 0.00
IGL02034:Haus8 APN 8 71,708,202 (GRCm39) missense probably damaging 1.00
IGL02112:Haus8 APN 8 71,708,205 (GRCm39) missense probably damaging 1.00
IGL02188:Haus8 APN 8 71,710,059 (GRCm39) missense probably damaging 1.00
IGL02871:Haus8 APN 8 71,709,138 (GRCm39) missense probably benign 0.00
IGL02939:Haus8 APN 8 71,708,361 (GRCm39) splice site probably benign
R0486:Haus8 UTSW 8 71,709,182 (GRCm39) missense probably benign 0.01
R0486:Haus8 UTSW 8 71,709,181 (GRCm39) missense probably damaging 1.00
R0648:Haus8 UTSW 8 71,709,174 (GRCm39) missense probably damaging 1.00
R1848:Haus8 UTSW 8 71,708,767 (GRCm39) intron probably benign
R2327:Haus8 UTSW 8 71,708,289 (GRCm39) critical splice donor site probably null
R4575:Haus8 UTSW 8 71,715,736 (GRCm39) missense probably damaging 0.99
R5294:Haus8 UTSW 8 71,708,354 (GRCm39) missense unknown
R6424:Haus8 UTSW 8 71,704,080 (GRCm39) nonsense probably null
R7231:Haus8 UTSW 8 71,705,781 (GRCm39) missense probably benign 0.00
R8071:Haus8 UTSW 8 71,708,695 (GRCm39) missense probably benign 0.24
R8815:Haus8 UTSW 8 71,705,910 (GRCm39) splice site probably benign
R9752:Haus8 UTSW 8 71,715,731 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07