Incidental Mutation 'IGL03299:Haus7'
ID 416193
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Haus7
Ensembl Gene ENSMUSG00000031371
Gene Name HAUS augmin-like complex, subunit 7
Synonyms Uchl5ip, 1110020L19Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL03299
Quality Score
Status
Chromosome X
Chromosomal Location 72480921-72502635 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 72496670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000076479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033737] [ENSMUST00000077243]
AlphaFold Q8BKT8
Predicted Effect probably null
Transcript: ENSMUST00000033737
Predicted Effect probably null
Transcript: ENSMUST00000077243
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the augmin complex, which regulates centrosome and mitotic spindle integrity, and is necessary for the completion of cytokinesis. The encoded protein was identified by interaction with ubiquitin C-terminal hydrolase 37. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik A G X: 126,303,476 (GRCm39) probably benign Het
Abca17 A T 17: 24,484,565 (GRCm39) C1566S probably damaging Het
Akr1cl A T 1: 65,063,874 (GRCm39) L105H probably damaging Het
Ano1 A G 7: 144,207,993 (GRCm39) F256S probably damaging Het
Arfip2 C T 7: 105,287,150 (GRCm39) R138H probably damaging Het
Cers6 T A 2: 68,692,128 (GRCm39) M50K probably benign Het
Dnah1 G A 14: 31,037,079 (GRCm39) Q256* probably null Het
Dync1h1 G A 12: 110,585,644 (GRCm39) E852K possibly damaging Het
Fars2 C T 13: 36,721,384 (GRCm39) Q443* probably null Het
Glb1l3 T C 9: 26,770,748 (GRCm39) N106S probably damaging Het
Hectd1 C T 12: 51,847,671 (GRCm39) probably benign Het
Hyal5 G T 6: 24,877,881 (GRCm39) G326C probably damaging Het
Ibtk A T 9: 85,603,189 (GRCm39) D605E probably benign Het
Kif26b T C 1: 178,649,125 (GRCm39) L415P probably benign Het
Lrrc37a C T 11: 103,388,499 (GRCm39) E2309K unknown Het
Muc5b A G 7: 141,395,117 (GRCm39) D41G unknown Het
Mxra7 A G 11: 116,695,360 (GRCm39) probably benign Het
Ncoa6 T C 2: 155,249,207 (GRCm39) T1366A probably damaging Het
Nmd3 C T 3: 69,637,762 (GRCm39) probably null Het
Or6c206 T C 10: 129,097,196 (GRCm39) V122A probably benign Het
Pla2g4a T C 1: 149,727,118 (GRCm39) N546S probably damaging Het
Prkcz T C 4: 155,371,247 (GRCm39) T139A possibly damaging Het
Rarb T C 14: 16,434,168 (GRCm38) K337E probably damaging Het
Rps6ka4 C T 19: 6,809,615 (GRCm39) probably benign Het
Scamp2 A G 9: 57,485,023 (GRCm39) probably null Het
Scn3a T A 2: 65,327,860 (GRCm39) M877L probably benign Het
Sh3pxd2b T C 11: 32,361,448 (GRCm39) probably benign Het
Slc22a29 C T 19: 8,140,012 (GRCm39) probably null Het
Slc34a1 T C 13: 24,005,094 (GRCm39) probably null Het
Srbd1 A T 17: 86,428,087 (GRCm39) I382N possibly damaging Het
Tm7sf2 T C 19: 6,112,958 (GRCm39) I387M probably benign Het
Wfs1 C A 5: 37,125,731 (GRCm39) E311* probably null Het
Zc3h13 G A 14: 75,531,381 (GRCm39) R93H probably damaging Het
Posted On 2016-08-02