Incidental Mutation 'R8289:Mvb12a'
ID 638578
Institutional Source Beutler Lab
Gene Symbol Mvb12a
Ensembl Gene ENSMUSG00000031813
Gene Name multivesicular body subunit 12A
Synonyms 1110012M11Rik, Fam125a
MMRRC Submission 067711-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R8289 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 71995552-72000670 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 71995703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034272] [ENSMUST00000212326] [ENSMUST00000212954]
AlphaFold Q78HU3
Predicted Effect probably null
Transcript: ENSMUST00000034272
SMART Domains Protein: ENSMUSP00000034272
Gene: ENSMUSG00000031813

DomainStartEndE-ValueType
Pfam:DUF2464 8 259 2e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212326
Predicted Effect probably benign
Transcript: ENSMUST00000212954
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G C 11: 109,927,515 (GRCm39) probably benign Het
Adamts3 C A 5: 89,923,282 (GRCm39) D175Y possibly damaging Het
Adra1b G A 11: 43,726,315 (GRCm39) P201S probably damaging Het
Ahnak2 A G 12: 112,742,242 (GRCm39) V610A possibly damaging Het
Ap5s1 A C 2: 131,054,379 (GRCm39) H62P probably benign Het
Apeh A G 9: 107,963,444 (GRCm39) S593P probably damaging Het
Arhgap24 T C 5: 103,028,692 (GRCm39) V289A possibly damaging Het
Atoh1 A G 6: 64,706,893 (GRCm39) E196G probably damaging Het
Atp1b3 G A 9: 96,215,602 (GRCm39) S271L probably benign Het
Atp6v0a1 A G 11: 100,924,931 (GRCm39) R339G probably damaging Het
Calb2 T C 8: 110,894,690 (GRCm39) H27R possibly damaging Het
Camkk2 A C 5: 122,894,689 (GRCm39) L201R probably damaging Het
Car15 A G 16: 17,654,580 (GRCm39) probably null Het
Cecr2 A G 6: 120,735,077 (GRCm39) N771S probably benign Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Csmd1 T A 8: 16,108,716 (GRCm39) I1896F probably damaging Het
Cubn C T 2: 13,491,613 (GRCm39) V145I probably benign Het
Cuedc1 G A 11: 88,073,381 (GRCm39) S182N probably benign Het
Cux1 T A 5: 136,337,358 (GRCm39) E718V probably damaging Het
Cyp7a1 G A 4: 6,268,295 (GRCm39) P477S probably damaging Het
Dcaf17 T A 2: 70,885,718 (GRCm39) W16R Het
Dhx8 T A 11: 101,631,571 (GRCm39) M388K probably benign Het
Dnah14 T A 1: 181,543,780 (GRCm39) Y2453* probably null Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
F830016B08Rik G A 18: 60,433,360 (GRCm39) E148K probably benign Het
Hectd4 A G 5: 121,404,424 (GRCm39) T434A possibly damaging Het
Ide A G 19: 37,290,952 (GRCm39) L368P Het
Ide G C 19: 37,290,953 (GRCm39) L368V probably null Het
Ifi206 T C 1: 173,308,032 (GRCm39) I655V Het
Insrr A G 3: 87,721,501 (GRCm39) M1136V probably damaging Het
Kcne2 A G 16: 92,093,707 (GRCm39) E78G probably damaging Het
Lrrc23 A T 6: 124,755,267 (GRCm39) L90H probably damaging Het
Magel2 A C 7: 62,028,875 (GRCm39) Q593P unknown Het
Mrgpra3 G A 7: 47,239,468 (GRCm39) H153Y possibly damaging Het
Msln A G 17: 25,967,880 (GRCm39) V595A possibly damaging Het
Myo7a T G 7: 97,726,376 (GRCm39) M966L probably benign Het
Ncoa5 C T 2: 164,854,982 (GRCm39) D47N possibly damaging Het
Neurl4 T A 11: 69,800,206 (GRCm39) probably null Het
Or1e29 T A 11: 73,667,839 (GRCm39) M105L probably benign Het
Or4d1 T C 11: 87,805,589 (GRCm39) T48A probably benign Het
Or5p75-ps1 T A 7: 108,108,125 (GRCm39) H287Q unknown Het
Or8b37 T A 9: 37,959,000 (GRCm39) C161S probably benign Het
Osbpl7 T A 11: 96,947,405 (GRCm39) S480T probably benign Het
Podnl1 T C 8: 84,858,552 (GRCm39) L484P Het
Polr3gl G T 3: 96,489,228 (GRCm39) probably benign Het
Prkaa1 G T 15: 5,206,563 (GRCm39) V438L possibly damaging Het
Prune2 A T 19: 17,100,373 (GRCm39) H1959L probably benign Het
Rad50 A T 11: 53,589,685 (GRCm39) L172* probably null Het
Samsn1 C A 16: 75,685,684 (GRCm39) G25W probably damaging Het
Sbno1 T G 5: 124,542,068 (GRCm39) L362F probably damaging Het
Slc26a6 G A 9: 108,733,230 (GRCm39) R43H probably benign Het
Slc35f5 T G 1: 125,490,252 (GRCm39) Y49* probably null Het
Slc41a2 T C 10: 83,137,044 (GRCm39) I288V probably benign Het
Slc9c1 A G 16: 45,403,344 (GRCm39) M804V probably benign Het
Smc6 T A 12: 11,324,052 (GRCm39) S66T probably benign Het
Ssh1 T C 5: 114,080,445 (GRCm39) D995G probably benign Het
Stk11 G T 10: 79,961,740 (GRCm39) probably benign Het
Sycp1 A G 3: 102,748,353 (GRCm39) I813T probably benign Het
Tmem121b A T 6: 120,469,722 (GRCm39) S332T possibly damaging Het
Treml4 A C 17: 48,581,456 (GRCm39) I244L probably benign Het
Unc13b T A 4: 43,172,524 (GRCm39) C1117* probably null Het
Wdr35 A G 12: 9,058,020 (GRCm39) I526V probably benign Het
Zap70 T C 1: 36,820,218 (GRCm39) W500R probably damaging Het
Zfr G T 15: 12,135,357 (GRCm39) V49F noncoding transcript Het
Other mutations in Mvb12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Mvb12a APN 8 71,997,946 (GRCm39) missense probably damaging 0.99
R0265:Mvb12a UTSW 8 71,999,654 (GRCm39) missense probably damaging 1.00
R0848:Mvb12a UTSW 8 71,998,422 (GRCm39) missense probably benign 0.06
R4505:Mvb12a UTSW 8 71,996,103 (GRCm39) missense probably benign 0.13
R4506:Mvb12a UTSW 8 71,996,103 (GRCm39) missense probably benign 0.13
R6834:Mvb12a UTSW 8 71,997,896 (GRCm39) missense probably benign 0.03
R7809:Mvb12a UTSW 8 71,998,306 (GRCm39) missense probably benign 0.21
R8297:Mvb12a UTSW 8 71,997,888 (GRCm39) missense probably damaging 1.00
R9287:Mvb12a UTSW 8 71,999,638 (GRCm39) missense probably damaging 1.00
X0058:Mvb12a UTSW 8 71,998,479 (GRCm39) missense probably damaging 1.00
X0067:Mvb12a UTSW 8 72,000,220 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GCACTTTCAAAGGTGTTCTGGG -3'
(R):5'- CCACATTGTCCTGAGGGTTC -3'

Sequencing Primer
(F):5'- GAGTTGTAGTCCGAGGTTCC -3'
(R):5'- GCAAACTCAGGCTCAGGC -3'
Posted On 2020-07-28