Incidental Mutation 'R4861:Mzt1'
ID 380265
Institutional Source Beutler Lab
Gene Symbol Mzt1
Ensembl Gene ENSMUSG00000033186
Gene Name mitotic spindle organizing protein 1
Synonyms 2410129H14Rik
MMRRC Submission 042472-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # R4861 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 99271980-99283570 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 99284910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022656] [ENSMUST00000042662] [ENSMUST00000227128] [ENSMUST00000227744] [ENSMUST00000227948]
AlphaFold Q8BUR9
Predicted Effect probably null
Transcript: ENSMUST00000022656
SMART Domains Protein: ENSMUSP00000022656
Gene: ENSMUSG00000022070

DomainStartEndE-ValueType
Pfam:BORA_N 7 207 2.4e-69 PFAM
low complexity region 392 403 N/A INTRINSIC
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: ENSMUST00000226823
Predicted Effect probably benign
Transcript: ENSMUST00000227128
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227197
Predicted Effect probably benign
Transcript: ENSMUST00000227744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228082
Predicted Effect probably benign
Transcript: ENSMUST00000227948
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.2%
  • 20x: 84.7%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,076,249 (GRCm39) R1153H probably damaging Het
Ahcy T C 2: 154,902,436 (GRCm39) E411G probably benign Het
Alpi T A 1: 87,028,191 (GRCm39) I211F probably damaging Het
Arfgef3 G A 10: 18,483,479 (GRCm39) A1415V probably benign Het
Car3 T C 3: 14,931,956 (GRCm39) V109A probably damaging Het
Cdk13 A T 13: 17,941,171 (GRCm39) V17D probably damaging Het
Cept1 A C 3: 106,413,048 (GRCm39) S226A probably damaging Het
Dbt A T 3: 116,341,727 (GRCm39) I443L probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Farp2 T C 1: 93,533,141 (GRCm39) L633S probably damaging Het
Frmd6 T G 12: 70,940,500 (GRCm39) S382A probably damaging Het
Gm26727 T C 2: 67,263,289 (GRCm39) I79M probably damaging Het
Gm5800 T A 14: 51,953,504 (GRCm39) N37I probably damaging Het
Hapln1 G A 13: 89,749,571 (GRCm39) G39S possibly damaging Het
Ice2 T A 9: 69,322,730 (GRCm39) S408R probably benign Het
Lctl T C 9: 64,027,045 (GRCm39) I131T possibly damaging Het
Mvk C T 5: 114,598,258 (GRCm39) probably benign Het
Ncoa7 T A 10: 30,580,608 (GRCm39) M117L probably benign Het
Npy4r C T 14: 33,868,840 (GRCm39) W149* probably null Het
Nr5a2 A G 1: 136,876,458 (GRCm39) probably null Het
Odad1 A G 7: 45,592,297 (GRCm39) E359G probably damaging Het
Plg G A 17: 12,614,622 (GRCm39) E301K probably benign Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Rapgef2 T C 3: 78,981,743 (GRCm39) K1084R probably benign Het
Slc41a2 T C 10: 83,152,322 (GRCm39) Q51R probably damaging Het
Slc47a2 A T 11: 61,227,059 (GRCm39) C170S probably benign Het
Slco1b2 A T 6: 141,616,948 (GRCm39) N427I possibly damaging Het
Smc2 G A 4: 52,461,090 (GRCm39) R571H probably benign Het
Sp4 G T 12: 118,264,546 (GRCm39) probably null Het
Tas2r117 T C 6: 132,780,092 (GRCm39) F77L probably benign Het
Tbcd C T 11: 121,492,787 (GRCm39) R875C probably damaging Het
Thumpd2 A G 17: 81,334,230 (GRCm39) S453P probably benign Het
Vars2 G T 17: 35,972,825 (GRCm39) Q13K probably benign Het
Other mutations in Mzt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Mzt1 APN 14 99,278,106 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CCTGGGCTATGGGAGATGTC -3'
(R):5'- ACAGTGCAGGACTTTGCTCC -3'

Sequencing Primer
(F):5'- GAGATGTCAGCGAATTAAAAATGC -3'
(R):5'- CCATAATTCGTTACTAGAGCGTGGC -3'
Posted On 2016-04-15