Incidental Mutation 'R4505:Mvb12a'
ID 331975
Institutional Source Beutler Lab
Gene Symbol Mvb12a
Ensembl Gene ENSMUSG00000031813
Gene Name multivesicular body subunit 12A
Synonyms 1110012M11Rik, Fam125a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R4505 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 71995552-72000670 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 71996103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 86 (A86S)
Ref Sequence ENSEMBL: ENSMUSP00000148449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034272] [ENSMUST00000212326] [ENSMUST00000212954]
AlphaFold Q78HU3
Predicted Effect probably benign
Transcript: ENSMUST00000034272
AA Change: A86S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034272
Gene: ENSMUSG00000031813
AA Change: A86S

DomainStartEndE-ValueType
Pfam:DUF2464 8 259 2e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212234
Predicted Effect probably benign
Transcript: ENSMUST00000212326
AA Change: A86S

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212659
Predicted Effect probably benign
Transcript: ENSMUST00000212954
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,152,445 (GRCm39) I1367N probably damaging Het
Acbd4 A G 11: 102,995,605 (GRCm39) probably benign Het
Adarb2 A T 13: 8,747,727 (GRCm39) S428C probably damaging Het
Atl3 T A 19: 7,498,184 (GRCm39) D193E probably benign Het
Bhlhe22 T C 3: 18,109,123 (GRCm39) S58P probably benign Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Epha10 A G 4: 124,809,480 (GRCm39) probably benign Het
Farp2 A T 1: 93,546,732 (GRCm39) N917I probably damaging Het
Fbh1 A G 2: 11,753,828 (GRCm39) V838A possibly damaging Het
Fras1 T A 5: 96,929,207 (GRCm39) N3870K probably damaging Het
Gm6632 C T 5: 59,211,821 (GRCm39) noncoding transcript Het
Gpr20 T C 15: 73,568,321 (GRCm39) T23A probably benign Het
Grb14 A C 2: 64,852,912 (GRCm39) V26G probably damaging Het
H2-T5 A T 17: 36,472,372 (GRCm39) probably benign Het
Itgb4 G A 11: 115,874,087 (GRCm39) silent Het
Jak1 T C 4: 101,011,800 (GRCm39) T1101A probably benign Het
Kcnq3 A T 15: 65,867,191 (GRCm39) Y817* probably null Het
Krtcap2 A G 3: 89,153,563 (GRCm39) probably benign Het
Lhx5 C A 5: 120,578,073 (GRCm39) H298N possibly damaging Het
Lrig3 C T 10: 125,849,216 (GRCm39) P979S probably benign Het
Map3k13 A G 16: 21,740,928 (GRCm39) S752G probably benign Het
Map4 T C 9: 109,861,253 (GRCm39) S206P probably benign Het
Mon2 A G 10: 122,845,494 (GRCm39) S1405P probably damaging Het
Or5p62 T C 7: 107,771,175 (GRCm39) I259V probably benign Het
Or8a1b C T 9: 37,622,760 (GRCm39) V272I probably benign Het
Pithd1 T C 4: 135,706,144 (GRCm39) N37S probably benign Het
Piwil4 T C 9: 14,637,259 (GRCm39) T352A probably damaging Het
Prb1a T A 6: 132,184,533 (GRCm39) R367* probably null Het
Psmb4 A C 3: 94,793,456 (GRCm39) Y142D probably damaging Het
Ptprs T C 17: 56,758,678 (GRCm39) N181S possibly damaging Het
Rcbtb2 T C 14: 73,411,345 (GRCm39) L370P probably damaging Het
Ric8a A G 7: 140,438,429 (GRCm39) I223V probably benign Het
Runx1t1 G T 4: 13,889,676 (GRCm39) C535F probably damaging Het
Samd4b A G 7: 28,106,925 (GRCm39) M329T probably benign Het
Serpinb9g T A 13: 33,670,546 (GRCm39) F11L probably damaging Het
Slc25a51 C T 4: 45,399,768 (GRCm39) V141M probably benign Het
Sp110 T G 1: 85,516,894 (GRCm39) Q201P probably damaging Het
Taar3 A G 10: 23,825,471 (GRCm39) I6V possibly damaging Het
Tjp2 T C 19: 24,086,195 (GRCm39) T776A possibly damaging Het
Tmc1 C T 19: 20,845,738 (GRCm39) V162I probably benign Het
Upf1 G A 8: 70,790,216 (GRCm39) R637C probably damaging Het
Ush2a A G 1: 188,460,793 (GRCm39) T2685A possibly damaging Het
Vmn2r102 C T 17: 19,880,845 (GRCm39) T62I probably benign Het
Vps13c A T 9: 67,846,316 (GRCm39) Q2128L probably benign Het
Zfp26 T C 9: 20,353,561 (GRCm39) E76G probably benign Het
Zfp28 T C 7: 6,397,160 (GRCm39) S532P probably damaging 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
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
R8289:Mvb12a UTSW 8 71,995,703 (GRCm39) critical splice donor site probably null
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'- AGAAAGCCGGCTACTTCCTG -3'
(R):5'- AGGTATGCCCCACTATGCTC -3'

Sequencing Primer
(F):5'- GGCTACTTCCTGTGCCTGAG -3'
(R):5'- TGAGATAAAGGCCTCACTCTGTAGC -3'
Posted On 2015-07-21