Incidental Mutation 'IGL02034:Haus8'
ID184452
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: 0.823) question?
Stock #IGL02034
Quality Score
Status
Chromosome8
Chromosomal Location71248561-71272934 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 71255558 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 165 (N165S)
Ref Sequence ENSEMBL: ENSMUSP00000040802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035960] [ENSMUST00000110071] [ENSMUST00000123495]
Predicted Effect probably damaging
Transcript: ENSMUST00000035960
AA Change: N165S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040802
Gene: ENSMUSG00000035439
AA Change: N165S

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: N164S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105698
Gene: ENSMUSG00000035439
AA Change: N164S

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 silent
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik A G 19: 29,716,859 S1745P possibly damaging Het
Bcor A G X: 12,039,259 S1556P possibly damaging Het
Ccdc6 T A 10: 70,169,148 I241N probably benign Het
Cd81 T C 7: 143,066,249 I48T probably damaging Het
Cfap52 A G 11: 67,946,292 probably null Het
Cfap54 T C 10: 93,061,485 M264V probably damaging Het
Cmya5 G A 13: 93,084,535 probably benign Het
Csn2 A G 5: 87,696,082 probably benign Het
Cyfip1 G A 7: 55,898,353 R567Q probably damaging Het
Ehbp1 A G 11: 22,285,486 probably null Het
Ermp1 G A 19: 29,645,959 probably benign Het
Erv3 C T 2: 131,856,014 V142I possibly damaging Het
Fzd2 A G 11: 102,604,904 N58S probably damaging Het
Gcm2 G A 13: 41,105,793 R67C probably damaging Het
Gm17019 A G 5: 15,030,252 I182T possibly damaging Het
Gpr45 T C 1: 43,033,318 *374Q probably null Het
Hoxd4 T A 2: 74,728,406 L191Q probably damaging Het
I830077J02Rik A G 3: 105,927,249 probably benign Het
Lpl T C 8: 68,880,772 L7P possibly damaging Het
Lrp1b T A 2: 41,268,370 K1612* probably null Het
Myh14 G T 7: 44,616,293 A1546D possibly damaging Het
Nbea A G 3: 55,968,156 S1698P probably damaging Het
Olfr1217 C T 2: 89,023,671 V111M probably benign Het
Olfr470 G A 7: 107,845,178 T185I probably benign Het
Olfr676 C A 7: 105,035,390 T64N probably benign Het
Olfr9 A T 10: 128,990,701 Q263L probably benign Het
Otog A T 7: 46,295,993 K40* probably null Het
Rgma C A 7: 73,417,433 H145Q probably damaging Het
Rpgrip1l A T 8: 91,251,148 probably null Het
Ssxb2 T A X: 8,458,504 probably benign Het
Tmem175 C T 5: 108,642,136 T118I probably damaging Het
Wdhd1 A G 14: 47,261,351 V542A probably benign Het
Zfp977 G A 7: 42,580,712 P130S probably damaging Het
Other mutations in Haus8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Haus8 APN 8 71255645 critical splice donor site probably null
IGL01298:Haus8 APN 8 71253113 missense probably damaging 1.00
IGL01455:Haus8 APN 8 71253231 missense probably benign 0.00
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
Posted On2014-05-07