Incidental Mutation 'IGL01444:Haus2'
ID 84373
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Haus2
Ensembl Gene ENSMUSG00000027285
Gene Name HAUS augmin-like complex, subunit 2
Synonyms 2410007P03Rik, Cep27, 1700101G24Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # IGL01444
Quality Score
Status
Chromosome 2
Chromosomal Location 120439864-120452041 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120446423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 115 (R115K)
Ref Sequence ENSEMBL: ENSMUSP00000117299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028741] [ENSMUST00000110706] [ENSMUST00000124187]
AlphaFold Q9CQS9
Predicted Effect probably benign
Transcript: ENSMUST00000028741
SMART Domains Protein: ENSMUSP00000028741
Gene: ENSMUSG00000027285

DomainStartEndE-ValueType
Pfam:HAUS2 4 67 1.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110706
AA Change: R83K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106334
Gene: ENSMUSG00000027285
AA Change: R83K

DomainStartEndE-ValueType
Pfam:HAUS2 1 199 2.4e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124187
AA Change: R115K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000117299
Gene: ENSMUSG00000027285
AA Change: R115K

DomainStartEndE-ValueType
Pfam:HAUS2 5 215 1.2e-62 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,146,183 (GRCm39) N517I probably damaging Het
Adam25 G A 8: 41,207,958 (GRCm39) R408H probably benign Het
Adam34l A T 8: 44,079,470 (GRCm39) D251E probably benign Het
Ang C A 14: 51,339,124 (GRCm39) Y88* probably null Het
Ankrd42 T C 7: 92,259,793 (GRCm39) T327A probably damaging Het
Birc6 A G 17: 74,938,682 (GRCm39) D2696G probably damaging Het
Chd3 G A 11: 69,239,568 (GRCm39) T1717M probably benign Het
Csmd1 T A 8: 16,250,069 (GRCm39) M970L probably benign Het
Dhx32 T C 7: 133,350,706 (GRCm39) I121M possibly damaging Het
Dnah11 G A 12: 117,983,967 (GRCm39) S2506F possibly damaging Het
Dscam T A 16: 96,474,909 (GRCm39) I1218F possibly damaging Het
Duox1 T C 2: 122,170,571 (GRCm39) L1197P probably damaging Het
Eps8l2 T C 7: 140,941,288 (GRCm39) probably benign Het
Exoc3 T C 13: 74,355,054 (GRCm39) K49R probably damaging Het
Exoc8 T A 8: 125,622,580 (GRCm39) T596S possibly damaging Het
F13a1 C T 13: 37,102,551 (GRCm39) G391R probably null Het
Fat3 A T 9: 15,910,144 (GRCm39) S1953T probably damaging Het
Gls2 C A 10: 128,037,216 (GRCm39) N252K probably damaging Het
Ift122 A G 6: 115,861,340 (GRCm39) K262E probably benign Het
Islr2 C T 9: 58,105,661 (GRCm39) C533Y probably damaging Het
Lrp2 A T 2: 69,274,060 (GRCm39) F3997I possibly damaging Het
Nt5c1a C T 4: 123,109,962 (GRCm39) R354W probably damaging Het
Or6c206 T A 10: 129,097,204 (GRCm39) C125S probably damaging Het
Pcolce A T 5: 137,605,738 (GRCm39) S200R probably damaging Het
Plec A G 15: 76,063,497 (GRCm39) V2213A possibly damaging Het
Prmt3 T A 7: 49,430,120 (GRCm39) D74E probably benign Het
Ptk7 A G 17: 46,876,313 (GRCm39) F1046S probably damaging Het
Ranbp2 T C 10: 58,311,122 (GRCm39) Y887H possibly damaging Het
Sanbr T G 11: 23,570,225 (GRCm39) probably benign Het
Sez6l2 G A 7: 126,561,055 (GRCm39) E447K possibly damaging Het
Shld2 C A 14: 33,959,514 (GRCm39) V823F probably damaging Het
Snrnp70 C T 7: 45,036,660 (GRCm39) probably null Het
Timm10 T A 2: 84,660,208 (GRCm39) V49E probably damaging Het
Tox2 T C 2: 163,067,386 (GRCm39) probably benign Het
Usp20 T A 2: 30,888,801 (GRCm39) M1K probably null Het
Usp32 A C 11: 84,949,990 (GRCm39) L223V probably damaging Het
Zeb1 G T 18: 5,767,906 (GRCm39) A806S probably damaging Het
Zeb1 T C 18: 5,767,138 (GRCm39) S550P probably benign Het
Other mutations in Haus2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0003:Haus2 UTSW 2 120,449,449 (GRCm39) splice site probably benign
R4021:Haus2 UTSW 2 120,446,411 (GRCm39) missense probably damaging 1.00
R4717:Haus2 UTSW 2 120,449,583 (GRCm39) missense probably benign 0.00
R4939:Haus2 UTSW 2 120,449,517 (GRCm39) missense probably damaging 1.00
R7862:Haus2 UTSW 2 120,443,570 (GRCm39) missense probably benign 0.22
Posted On 2013-11-11