Incidental Mutation 'IGL02133:Haus1'
ID 281061
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Haus1
Ensembl Gene ENSMUSG00000041840
Gene Name HAUS augmin-like complex, subunit 1
Synonyms HEI-C, Ccdc5, spindle associated
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL02133
Quality Score
Status
Chromosome 18
Chromosomal Location 77757567-77767780 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77766911 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 53 (L53Q)
Ref Sequence ENSEMBL: ENSMUSP00000035826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048192]
AlphaFold Q8BHX1
Predicted Effect probably damaging
Transcript: ENSMUST00000048192
AA Change: L53Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035826
Gene: ENSMUSG00000041840
AA Change: L53Q

DomainStartEndE-ValueType
coiled coil region 49 79 N/A INTRINSIC
coiled coil region 128 178 N/A INTRINSIC
low complexity region 210 229 N/A INTRINSIC
coiled coil region 249 277 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HAUS1 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
1700011H14Rik T A 14: 49,232,967 Q165L probably benign Het
9530068E07Rik G T 11: 52,403,510 A193S probably damaging Het
Adam4 A G 12: 81,420,029 V606A probably benign Het
Atp2c2 A G 8: 119,754,335 I821V probably benign Het
Bmi1 A T 2: 18,683,677 R160W probably damaging Het
Ccdc88c G A 12: 100,940,090 R1062C probably damaging Het
Cntnap3 A T 13: 64,751,673 probably benign Het
Col20a1 C T 2: 181,007,144 T940I probably damaging Het
Csmd3 A C 15: 47,857,942 M1535R possibly damaging Het
Dhx38 C A 8: 109,558,241 E487* probably null Het
Fam186b A G 15: 99,273,703 S888P probably damaging Het
Fancm G A 12: 65,106,475 G1235D probably benign Het
Grin3a C T 4: 49,792,946 W262* probably null Het
Gtdc1 A T 2: 44,575,443 M305K probably damaging Het
H2-M9 T C 17: 36,641,737 E139G possibly damaging Het
Hgfac A G 5: 35,046,587 Y483C probably damaging Het
Hipk2 C T 6: 38,819,134 V67I probably benign Het
Kbtbd8 T C 6: 95,121,732 probably benign Het
Kndc1 A G 7: 139,920,767 T683A probably benign Het
Ldhb A T 6: 142,492,500 M277K probably benign Het
Mgam T C 6: 40,643,076 L33P probably damaging Het
Ndst1 A G 18: 60,699,546 F571L probably benign Het
Neb G T 2: 52,212,804 probably null Het
Nrxn1 A G 17: 90,643,243 S503P probably damaging Het
Paqr3 A G 5: 97,095,931 V308A probably benign Het
Scnn1g T C 7: 121,743,699 F292L probably damaging Het
Stk3 A G 15: 35,099,516 F88S probably damaging Het
Tcaf2 T A 6: 42,627,396 E683V probably benign Het
Tprkb T C 6: 85,927,911 V123A probably benign Het
Ush2a T C 1: 188,443,343 Y1213H probably damaging Het
Vwa5b1 A G 4: 138,586,557 probably null Het
Wls A G 3: 159,897,370 Y140C probably damaging Het
Zan A G 5: 137,411,498 S28P possibly damaging Het
Other mutations in Haus1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0116:Haus1 UTSW 18 77762070 nonsense probably null
R1086:Haus1 UTSW 18 77766853 splice site probably benign
R1580:Haus1 UTSW 18 77766920 missense probably damaging 1.00
R6604:Haus1 UTSW 18 77764097 missense probably damaging 0.99
R7101:Haus1 UTSW 18 77766870 missense possibly damaging 0.94
R7229:Haus1 UTSW 18 77764134 missense probably benign 0.00
R7302:Haus1 UTSW 18 77760966 missense probably benign 0.05
R9696:Haus1 UTSW 18 77759502 missense probably benign
Posted On 2015-04-16