Incidental Mutation 'IGL01298:Haus8'
ID73206
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 #IGL01298
Quality Score
Status
Chromosome8
Chromosomal Location71248561-71272934 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 71253113 bp
ZygosityHeterozygous
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]
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: 75,333,492 W263C probably damaging Het
Agtpbp1 G A 13: 59,504,226 H424Y possibly damaging Het
Angpt2 T G 8: 18,710,528 N186T probably benign Het
Ank2 A G 3: 126,959,720 V304A possibly damaging Het
Atg3 T C 16: 45,171,673 M88T possibly damaging Het
Baz1a G T 12: 54,954,809 P142Q probably damaging Het
Btbd1 G T 7: 81,794,307 probably null Het
Cacnb3 T C 15: 98,639,853 Y70H probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Cyp7a1 A T 4: 6,275,517 W19R probably damaging Het
Dock10 T A 1: 80,531,245 I1610F probably damaging Het
Gm11444 C A 11: 85,848,094 D58Y unknown Het
Gm7168 A T 17: 13,949,858 T496S probably benign Het
Gpc5 A G 14: 115,399,188 S428G probably benign Het
Ice1 A G 13: 70,604,904 L1021P possibly damaging Het
Krtap14 A T 16: 88,825,727 H121Q probably benign Het
Nwd1 T C 8: 72,662,331 V170A probably benign Het
Olfr338 T A 2: 36,377,448 M224K probably benign Het
Olfr803 T C 10: 129,692,029 Y4C probably damaging Het
Olfr938 G A 9: 39,078,724 T7I possibly damaging Het
Pfpl T C 19: 12,428,673 M96T possibly damaging Het
Pramel5 A G 4: 144,271,162 probably benign Het
Proc T C 18: 32,123,552 N354S probably benign Het
Prss40 T G 1: 34,560,766 I47L probably benign Het
Tmprss7 T C 16: 45,664,175 R541G probably benign Het
Togaram2 T C 17: 71,716,513 V788A possibly damaging Het
Trbv19 T C 6: 41,178,904 Y70H probably damaging Het
Ttk C T 9: 83,865,142 S678L probably benign Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Other mutations in Haus8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Haus8 APN 8 71255645 critical splice donor site probably null
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 On2013-10-07