Incidental Mutation 'R7835:Mzt1'
ID 605939
Institutional Source Beutler Lab
Gene Symbol Mzt1
Ensembl Gene ENSMUSG00000033186
Gene Name mitotic spindle organizing protein 1
Synonyms 2410129H14Rik
MMRRC Submission 045889-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.922) question?
Stock # R7835 (G1)
Quality Score 144.008
Status Validated
Chromosome 14
Chromosomal Location 99034544-99046134 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99046003 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 21 (T21A)
Ref Sequence ENSEMBL: ENSMUSP00000037557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022656] [ENSMUST00000042662] [ENSMUST00000227128] [ENSMUST00000227744] [ENSMUST00000227948]
AlphaFold Q8BUR9
Predicted Effect probably benign
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
AA Change: T21A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000037557
Gene: ENSMUSG00000033186
AA Change: T21A

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:MOZART1 19 65 4.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227128
Predicted Effect probably benign
Transcript: ENSMUST00000227744
Predicted Effect probably benign
Transcript: ENSMUST00000227948
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T A 7: 79,099,875 (GRCm38) S1465T probably benign Het
Accsl T A 2: 93,865,984 (GRCm38) K90* probably null Het
Adamts3 A T 5: 89,700,440 (GRCm38) D674E possibly damaging Het
Adap2 T A 11: 80,160,231 (GRCm38) V129D probably benign Het
Ank3 A G 10: 69,987,727 (GRCm38) D742G Het
C1ra G A 6: 124,517,725 (GRCm38) E316K probably benign Het
C330021F23Rik A G 8: 3,580,452 (GRCm38) probably benign Het
Cachd1 G T 4: 100,974,153 (GRCm38) probably null Het
Ccne1 G T 7: 38,102,845 (GRCm38) Q133K probably benign Het
Cers3 C T 7: 66,773,639 (GRCm38) H111Y possibly damaging Het
Chst5 A T 8: 111,890,602 (GRCm38) L129M probably damaging Het
Depdc7 A G 2: 104,728,185 (GRCm38) S164P probably benign Het
Dnah10 G A 5: 124,777,234 (GRCm38) A1966T probably damaging Het
Fam208a G T 14: 27,476,643 (GRCm38) G1311C probably damaging Het
Fcgbp T G 7: 28,117,207 (GRCm38) S2365A possibly damaging Het
Ihh A G 1: 74,946,366 (GRCm38) V320A probably damaging Het
Kdm5d T C Y: 900,558 (GRCm38) V201A possibly damaging Het
Kif13b T A 14: 64,767,452 (GRCm38) H1117Q probably benign Het
Lcn8 C A 2: 25,655,296 (GRCm38) probably null Het
Lrp4 T C 2: 91,495,042 (GRCm38) V1404A possibly damaging Het
Lrrc61 A T 6: 48,568,572 (GRCm38) T110S probably benign Het
Mrpl19 G A 6: 81,962,126 (GRCm38) R232C probably damaging Het
Muc5ac G C 7: 141,809,303 (GRCm38) G2117A unknown Het
Naip6 G T 13: 100,316,004 (GRCm38) A183E probably benign Het
Neb T C 2: 52,150,577 (GRCm38) D6624G probably benign Het
Nup85 A G 11: 115,570,071 (GRCm38) D183G probably benign Het
Olfm5 A T 7: 104,154,445 (GRCm38) Y195* probably null Het
Olfr828 T A 9: 18,815,809 (GRCm38) M162L probably benign Het
Piezo2 A T 18: 63,082,945 (GRCm38) F1216I probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 109,624,195 (GRCm38) probably benign Het
Polr1a T C 6: 71,915,142 (GRCm38) V135A probably benign Het
Ppcdc A G 9: 57,420,276 (GRCm38) S83P probably benign Het
Prss21 A T 17: 23,869,451 (GRCm38) Q130L possibly damaging Het
Rdx T A 9: 52,065,788 (GRCm38) N112K probably damaging Het
Rgs22 A G 15: 36,081,911 (GRCm38) probably null Het
Rps26 C T 10: 128,626,126 (GRCm38) V40I probably benign Het
Runx2 A T 17: 44,608,236 (GRCm38) M405K probably damaging Het
Serinc2 A C 4: 130,275,487 (GRCm38) C4G unknown Het
Sh3rf2 C A 18: 42,111,170 (GRCm38) R266S probably benign Het
Slc38a10 A G 11: 120,116,996 (GRCm38) I386T possibly damaging Het
Stab2 G A 10: 86,872,619 (GRCm38) P1694L probably benign Het
Taf4 G A 2: 179,932,029 (GRCm38) T682M probably damaging Het
Tmem102 A G 11: 69,804,345 (GRCm38) V267A probably damaging Het
Trim65 A G 11: 116,130,929 (GRCm38) L26P probably damaging Het
Vmn1r160 T A 7: 22,871,954 (GRCm38) M244K possibly damaging Het
Vmn1r57 A T 7: 5,221,139 (GRCm38) H221L probably benign Het
Wdr89 C A 12: 75,632,899 (GRCm38) V194F probably damaging Het
Wee1 C A 7: 110,130,878 (GRCm38) Y396* probably null Het
Zfp451 A T 1: 33,772,979 (GRCm38) V885D probably damaging Het
Zfp981 A T 4: 146,537,876 (GRCm38) Q419H probably benign Het
Znfx1 A G 2: 167,039,827 (GRCm38) Y1081H probably damaging Het
Other mutations in Mzt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Mzt1 APN 14 99,040,670 (GRCm38) splice site probably benign
R0542:Mzt1 UTSW 14 99,040,502 (GRCm38) splice site probably benign
R1873:Mzt1 UTSW 14 99,040,661 (GRCm38) critical splice acceptor site probably null
R4489:Mzt1 UTSW 14 99,036,490 (GRCm38) makesense probably null
R4861:Mzt1 UTSW 14 99,047,474 (GRCm38) splice site probably null
R7589:Mzt1 UTSW 14 99,036,512 (GRCm38) critical splice acceptor site probably null
R7690:Mzt1 UTSW 14 99,040,588 (GRCm38) missense probably damaging 1.00
R7771:Mzt1 UTSW 14 99,040,576 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGGTGCTCAATCACTGGAAAC -3'
(R):5'- TTCAAATCAACGCGGTCCG -3'

Sequencing Primer
(F):5'- TTACTGAAACGCCTGGGC -3'
(R):5'- AGTTCCGGGTCAGGCCTTCTCC -3'
Posted On 2019-12-20