Incidental Mutation 'R7302:Haus1'
ID 567073
Institutional Source Beutler Lab
Gene Symbol Haus1
Ensembl Gene ENSMUSG00000041840
Gene Name HAUS augmin-like complex, subunit 1
Synonyms Ccdc5, HEI-C, spindle associated
MMRRC Submission 045406-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R7302 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 77845267-77861586 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77848666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 181 (N181D)
Ref Sequence ENSEMBL: ENSMUSP00000035826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048192]
AlphaFold Q8BHX1
Predicted Effect probably benign
Transcript: ENSMUST00000048192
AA Change: N181D

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000035826
Gene: ENSMUSG00000041840
AA Change: N181D

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (50/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik C T 14: 35,817,306 (GRCm39) P69S probably benign Het
Adam17 A G 12: 21,405,694 (GRCm39) probably benign Het
Bcl7a T A 5: 123,482,757 (GRCm39) M22K probably benign Het
C6 T A 15: 4,826,432 (GRCm39) C672S probably damaging Het
Capn11 C T 17: 45,954,738 (GRCm39) R133H probably damaging Het
Ccdc102a A G 8: 95,640,066 (GRCm39) L76P probably damaging Het
Cfhr4 T C 1: 139,667,436 (GRCm39) probably null Het
Cotl1 T G 8: 120,537,040 (GRCm39) I125L probably benign Het
Dennd5a A T 7: 109,504,906 (GRCm39) M868K probably damaging Het
Depdc5 T C 5: 33,136,852 (GRCm39) I1374T probably damaging Het
Dhx36 T C 3: 62,386,814 (GRCm39) Y646C probably benign Het
Ecpas T C 4: 58,834,593 (GRCm39) K762E probably benign Het
Egln2 A G 7: 26,864,310 (GRCm39) V205A probably damaging Het
Eri2 T A 7: 119,386,009 (GRCm39) M229L probably benign Het
Fancf C A 7: 51,511,452 (GRCm39) R184L probably damaging Het
Fancl A T 11: 26,353,363 (GRCm39) E86D probably damaging Het
Fignl2 T C 15: 100,951,259 (GRCm39) D341G unknown Het
Gm14410 A T 2: 176,885,648 (GRCm39) H205Q probably damaging Het
Hmbox1 T C 14: 65,066,115 (GRCm39) Y285C probably damaging Het
Igkv3-9 A G 6: 70,565,739 (GRCm39) M113V probably benign Het
Ivd T C 2: 118,701,985 (GRCm39) V139A probably benign Het
Limch1 A T 5: 67,116,942 (GRCm39) Y119F probably benign Het
Lrp1 C T 10: 127,374,856 (GRCm39) R4534Q probably benign Het
Mbd3l2 G A 9: 18,355,738 (GRCm39) S21N probably benign Het
Mob1b A G 5: 88,901,036 (GRCm39) N148D probably benign Het
Mylk4 A T 13: 32,904,548 (GRCm39) D195E probably benign Het
Ndufa7 T C 17: 34,048,687 (GRCm39) S50P probably benign Het
Nectin4 G T 1: 171,214,203 (GRCm39) E453* probably null Het
Nell1 T G 7: 50,506,017 (GRCm39) F741L probably benign Het
Ntng1 T A 3: 109,739,933 (GRCm39) H369L possibly damaging Het
Plin4 T A 17: 56,409,330 (GRCm39) M1297L probably benign Het
Pnp G A 14: 51,188,404 (GRCm39) V193M probably damaging Het
Ppp1r10 T G 17: 36,241,773 (GRCm39) S849R unknown Het
Rpgrip1 A G 14: 52,387,012 (GRCm39) E981G unknown Het
Sbsn T C 7: 30,451,309 (GRCm39) F108S probably benign Het
Scn11a A G 9: 119,636,017 (GRCm39) M310T probably benign Het
Sf3b1 A G 1: 55,055,949 (GRCm39) S97P probably benign Het
Sgsh A G 11: 119,238,525 (GRCm39) V313A probably benign Het
Slc25a10 G T 11: 120,382,782 (GRCm39) probably benign Het
Slc9a2 T A 1: 40,806,828 (GRCm39) V705E possibly damaging Het
Surf2 G T 2: 26,808,894 (GRCm39) C116F probably damaging Het
Tnks1bp1 T C 2: 84,882,698 (GRCm39) I175T probably benign Het
Tnxb C T 17: 34,897,875 (GRCm39) T841I probably benign Het
Ttll3 A G 6: 113,386,246 (GRCm39) D693G probably damaging Het
Ust A G 10: 8,393,973 (GRCm39) L64P probably damaging Het
Vmn1r77 C T 7: 11,775,983 (GRCm39) S253F possibly damaging Het
Vmn2r66 A G 7: 84,654,423 (GRCm39) M512T probably benign Het
Zfp13 C T 17: 23,800,036 (GRCm39) G89D probably damaging Het
Zfp616 T A 11: 73,976,205 (GRCm39) Y825N probably benign Het
Zfp865 A G 7: 5,032,252 (GRCm39) Y79C possibly damaging Het
Zfyve26 A T 12: 79,297,942 (GRCm39) F1916I probably damaging Het
Other mutations in Haus1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02133:Haus1 APN 18 77,854,611 (GRCm39) missense probably damaging 1.00
R0116:Haus1 UTSW 18 77,849,770 (GRCm39) nonsense probably null
R1086:Haus1 UTSW 18 77,854,553 (GRCm39) splice site probably benign
R1580:Haus1 UTSW 18 77,854,620 (GRCm39) missense probably damaging 1.00
R6604:Haus1 UTSW 18 77,851,797 (GRCm39) missense probably damaging 0.99
R7101:Haus1 UTSW 18 77,854,570 (GRCm39) missense possibly damaging 0.94
R7229:Haus1 UTSW 18 77,851,834 (GRCm39) missense probably benign 0.00
R9696:Haus1 UTSW 18 77,847,202 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAACTTGGGCAGGTTCCAGAC -3'
(R):5'- ACTCGTGGTATAACAATAGCTGG -3'

Sequencing Primer
(F):5'- GTTCCAGACCTTCCGCGTAG -3'
(R):5'- CAATAGCTGGCAAGTAGGCTGTC -3'
Posted On 2019-06-26