Incidental Mutation 'IGL02137:Hoatz'
ID 281385
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hoatz
Ensembl Gene ENSMUSG00000032057
Gene Name HOATZ cilia and flagella associated protein
Synonyms 4833427G06Rik, Hoatzin
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.480) question?
Stock # IGL02137
Quality Score
Status
Chromosome 9
Chromosomal Location 50992415-51013378 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 50997408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170947] [ENSMUST00000214452]
AlphaFold Q80Y73
Predicted Effect probably benign
Transcript: ENSMUST00000170947
Predicted Effect probably benign
Transcript: ENSMUST00000214452
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik T C X: 80,501,262 (GRCm39) D116G probably benign Het
Acp2 G T 2: 91,034,028 (GRCm39) G66V probably damaging Het
Adam32 C T 8: 25,362,610 (GRCm39) G605D probably damaging Het
Adam4 T C 12: 81,467,877 (GRCm39) D248G possibly damaging Het
Adamts15 C A 9: 30,821,956 (GRCm39) G494W probably damaging Het
Arfgef1 A T 1: 10,283,338 (GRCm39) N190K probably damaging Het
Bach2 C T 4: 32,501,621 (GRCm39) probably benign Het
Bloc1s1 T C 10: 128,758,517 (GRCm39) probably benign Het
Casz1 G T 4: 149,017,925 (GRCm39) A405S possibly damaging Het
Cplx4 T C 18: 66,090,125 (GRCm39) D98G probably benign Het
Dync2h1 T C 9: 7,134,349 (GRCm39) N1553D probably benign Het
Erich5 G A 15: 34,470,900 (GRCm39) C43Y probably damaging Het
Exosc10 A C 4: 148,645,590 (GRCm39) R123S probably damaging Het
Inpp5f T C 7: 128,296,853 (GRCm39) V377A probably damaging Het
Lrp1b T C 2: 40,620,700 (GRCm39) probably benign Het
Mrps17 G A 5: 129,793,847 (GRCm39) V14M probably benign Het
Mtrr G A 13: 68,716,920 (GRCm39) S431F possibly damaging Het
Myo5a T C 9: 75,068,817 (GRCm39) probably null Het
Nsfl1c T A 2: 151,351,509 (GRCm39) I291N probably damaging Het
Ntsr1 T A 2: 180,180,628 (GRCm39) probably null Het
Or4n4 T C 14: 50,519,135 (GRCm39) T192A probably benign Het
Park7 T C 4: 150,988,288 (GRCm39) I102M probably benign Het
Pik3c2a T A 7: 115,950,039 (GRCm39) Q1326L probably benign Het
Rapgef3 T C 15: 97,648,025 (GRCm39) D693G probably benign Het
Rep15 G A 6: 146,934,845 (GRCm39) R228H probably benign Het
Slc25a1 A G 16: 17,745,234 (GRCm39) V100A probably benign Het
Slc9a4 T C 1: 40,640,059 (GRCm39) F284L possibly damaging Het
Sox10 G T 15: 79,043,393 (GRCm39) D52E probably benign Het
St3gal5 C A 6: 72,105,266 (GRCm39) T6N probably benign Het
Tbc1d22a A G 15: 86,183,870 (GRCm39) D243G probably benign Het
Tll1 T C 8: 64,469,132 (GRCm39) Y997C possibly damaging Het
Tmem8b A T 4: 43,689,434 (GRCm39) H276L probably benign Het
Tnpo3 T C 6: 29,609,450 (GRCm39) Y12C probably damaging Het
Tns3 A T 11: 8,442,578 (GRCm39) M595K possibly damaging Het
Trav18 T A 14: 54,069,192 (GRCm39) M78K probably benign Het
Uba7 A G 9: 107,856,952 (GRCm39) probably benign Het
Vmn1r167 A T 7: 23,204,864 (GRCm39) S51T probably damaging Het
Vmn1r83 A T 7: 12,055,761 (GRCm39) Y99N probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Other mutations in Hoatz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Hoatz APN 9 50,994,886 (GRCm39) nonsense probably null
IGL01475:Hoatz APN 9 51,011,358 (GRCm39) missense probably benign 0.28
R0080:Hoatz UTSW 9 51,013,102 (GRCm39) missense probably benign 0.32
R0082:Hoatz UTSW 9 51,013,102 (GRCm39) missense probably benign 0.32
R0631:Hoatz UTSW 9 51,013,253 (GRCm39) missense probably benign 0.00
R1655:Hoatz UTSW 9 50,994,921 (GRCm39) missense probably damaging 0.98
R2116:Hoatz UTSW 9 51,012,384 (GRCm39) missense possibly damaging 0.74
R2444:Hoatz UTSW 9 51,011,298 (GRCm39) critical splice donor site probably null
R8869:Hoatz UTSW 9 50,992,832 (GRCm39) critical splice acceptor site probably null
R8936:Hoatz UTSW 9 51,011,298 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16