Incidental Mutation 'R4861:Mzt1'
ID380265
Institutional Source Beutler Lab
Gene Symbol Mzt1
Ensembl Gene ENSMUSG00000033186
Gene Namemitotic spindle organizing protein 1
Synonyms2410129H14Rik
MMRRC Submission 042472-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.878) question?
Stock #R4861 (G1)
Quality Score225
Status Validated
Chromosome14
Chromosomal Location99034544-99046134 bp(-) (GRCm38)
Type of Mutationsplice site (6 bp from exon)
DNA Base Change (assembly) T to C at 99047474 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022656] [ENSMUST00000042662] [ENSMUST00000227128] [ENSMUST00000227744] [ENSMUST00000227948]
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 probably benign
Transcript: ENSMUST00000227948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228445
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: 69,245,905 R1153H probably damaging Het
Ahcy T C 2: 155,060,516 E411G probably benign Het
Alpi T A 1: 87,100,469 I211F probably damaging Het
Arfgef3 G A 10: 18,607,731 A1415V probably benign Het
Car3 T C 3: 14,866,896 V109A probably damaging Het
Ccdc114 A G 7: 45,942,873 E359G probably damaging Het
Cdk13 A T 13: 17,766,586 V17D probably damaging Het
Cept1 A C 3: 106,505,732 S226A probably damaging Het
Dbt A T 3: 116,548,078 I443L probably benign Het
Dync1h1 C A 12: 110,658,126 T3700N probably damaging Het
Farp2 T C 1: 93,605,419 L633S probably damaging Het
Frmd6 T G 12: 70,893,726 S382A probably damaging Het
Gm26727 T C 2: 67,432,945 I79M probably damaging Het
Gm5800 T A 14: 51,716,047 N37I probably damaging Het
Hapln1 G A 13: 89,601,452 G39S possibly damaging Het
Ice2 T A 9: 69,415,448 S408R probably benign Het
Lctl T C 9: 64,119,763 I131T possibly damaging Het
Mvk C T 5: 114,460,197 probably benign Het
Ncoa7 T A 10: 30,704,612 M117L probably benign Het
Npy4r C T 14: 34,146,883 W149* probably null Het
Nr5a2 A G 1: 136,948,720 probably null Het
Plg G A 17: 12,395,735 E301K probably benign Het
Pnkp C T 7: 44,862,403 S113L probably damaging Het
Rapgef2 T C 3: 79,074,436 K1084R probably benign Het
Slc41a2 T C 10: 83,316,458 Q51R probably damaging Het
Slc47a2 A T 11: 61,336,233 C170S probably benign Het
Slco1b2 A T 6: 141,671,222 N427I possibly damaging Het
Smc2 G A 4: 52,461,090 R571H probably benign Het
Sp4 G T 12: 118,300,811 probably null Het
Tas2r117 T C 6: 132,803,129 F77L probably benign Het
Tbcd C T 11: 121,601,961 R875C probably damaging Het
Thumpd2 A G 17: 81,026,801 S453P probably benign Het
Vars2 G T 17: 35,661,933 Q13K probably benign Het
Other mutations in Mzt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Mzt1 APN 14 99040670 splice site probably benign
R0542:Mzt1 UTSW 14 99040502 splice site probably benign
R1873:Mzt1 UTSW 14 99040661 critical splice acceptor site probably null
R4489:Mzt1 UTSW 14 99036490 makesense probably null
R7589:Mzt1 UTSW 14 99036512 critical splice acceptor site probably null
R7690:Mzt1 UTSW 14 99040588 missense probably damaging 1.00
R7771:Mzt1 UTSW 14 99040576 missense probably damaging 1.00
R7835:Mzt1 UTSW 14 99046003 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 On2016-04-15