Incidental Mutation 'IGL00490:Mzt1'
ID 5861
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mzt1
Ensembl Gene ENSMUSG00000033186
Gene Name mitotic spindle organizing protein 1
Synonyms 2410129H14Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # IGL00490
Quality Score
Status
Chromosome 14
Chromosomal Location 99271980-99283570 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 99278106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042662] [ENSMUST00000227948]
AlphaFold Q8BUR9
Predicted Effect probably benign
Transcript: ENSMUST00000042662
SMART Domains Protein: ENSMUSP00000037557
Gene: ENSMUSG00000033186

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:MOZART1 19 65 4.1e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227197
Predicted Effect probably benign
Transcript: ENSMUST00000227948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228445
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 A G 4: 129,905,665 (GRCm39) E837G possibly damaging Het
Atp13a3 A G 16: 30,171,172 (GRCm39) M291T probably benign Het
Coq8b C A 7: 26,956,902 (GRCm39) H518Q probably benign Het
Crebrf A G 17: 26,962,067 (GRCm39) D388G probably damaging Het
Cyp2d10 A T 15: 82,287,515 (GRCm39) S244T possibly damaging Het
Ddr2 A T 1: 169,832,763 (GRCm39) L99H probably damaging Het
Dennd1a G T 2: 37,691,164 (GRCm39) D251E probably damaging Het
Fam210a G T 18: 68,401,983 (GRCm39) T210N probably damaging Het
Gigyf2 C A 1: 87,364,572 (GRCm39) Q951K probably damaging Het
Gramd1b T A 9: 40,221,337 (GRCm39) I280F probably damaging Het
Gsdmc3 T A 15: 63,731,526 (GRCm39) K335N probably benign Het
Loxhd1 A T 18: 77,518,770 (GRCm39) T993S possibly damaging Het
Mfsd6 A G 1: 52,747,413 (GRCm39) L484P probably damaging Het
Myt1l T A 12: 29,877,423 (GRCm39) V358E unknown Het
Nrxn2 C A 19: 6,523,623 (GRCm39) H514Q possibly damaging Het
Nup214 G A 2: 31,923,991 (GRCm39) E2K probably damaging Het
Pcdhb4 G T 18: 37,442,969 (GRCm39) G760W possibly damaging Het
Ptger2 T C 14: 45,239,198 (GRCm39) probably benign Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Smcr8 T A 11: 60,669,458 (GRCm39) probably null Het
Spef2 A T 15: 9,740,621 (GRCm39) D46E probably damaging Het
Tbc1d32 G A 10: 56,031,861 (GRCm39) P689L probably damaging Het
Tep1 C A 14: 51,070,930 (GRCm39) W2123L probably damaging Het
Thg1l T C 11: 45,845,048 (GRCm39) E8G probably benign Het
Tmem236 A G 2: 14,224,189 (GRCm39) Y326C probably damaging Het
Trip4 C T 9: 65,740,692 (GRCm39) G573R probably damaging Het
Trrap C T 5: 144,762,035 (GRCm39) T2320I probably benign Het
Tsnaxip1 A G 8: 106,568,816 (GRCm39) N435S probably damaging Het
Ube3a A G 7: 58,921,858 (GRCm39) N77D probably damaging Het
Uvrag A T 7: 98,628,948 (GRCm39) I373N probably damaging Het
Other mutations in Mzt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0542:Mzt1 UTSW 14 99,277,938 (GRCm39) splice site probably benign
R1873:Mzt1 UTSW 14 99,278,097 (GRCm39) critical splice acceptor site probably null
R4489:Mzt1 UTSW 14 99,273,926 (GRCm39) makesense probably null
R4861:Mzt1 UTSW 14 99,284,910 (GRCm39) splice site probably null
R7589:Mzt1 UTSW 14 99,273,948 (GRCm39) critical splice acceptor site probably null
R7690:Mzt1 UTSW 14 99,278,024 (GRCm39) missense probably damaging 1.00
R7771:Mzt1 UTSW 14 99,278,012 (GRCm39) missense probably damaging 1.00
R7835:Mzt1 UTSW 14 99,283,439 (GRCm39) missense probably benign 0.03
Posted On 2012-04-20