Incidental Mutation 'R4506:Mvb12a'
ID 332017
Institutional Source Beutler Lab
Gene Symbol Mvb12a
Ensembl Gene ENSMUSG00000031813
Gene Name multivesicular body subunit 12A
Synonyms 1110012M11Rik, Fam125a
MMRRC Submission 041584-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R4506 (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: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,685,087 (GRCm39) P137T probably damaging Het
Abcc5 A T 16: 20,152,445 (GRCm39) I1367N probably damaging Het
Ace T A 11: 105,867,492 (GRCm39) L152Q probably damaging Het
Adam19 G A 11: 46,009,271 (GRCm39) D232N possibly damaging Het
Anapc4 A T 5: 52,993,072 (GRCm39) N61I possibly damaging Het
Ap5m1 T C 14: 49,311,218 (GRCm39) V96A probably damaging Het
Atr T A 9: 95,747,290 (GRCm39) C191S probably benign Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cnot6l A T 5: 96,234,033 (GRCm39) V326E possibly damaging Het
Fcer2a A T 8: 3,738,603 (GRCm39) probably null Het
Fgfr3 A G 5: 33,887,343 (GRCm39) T221A probably damaging Het
Gm6632 C T 5: 59,211,821 (GRCm39) noncoding transcript Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
H2-T5 A T 17: 36,472,372 (GRCm39) probably benign Het
Ip6k3 A T 17: 27,364,154 (GRCm39) L298Q possibly damaging Het
Itpr1 A G 6: 108,409,647 (GRCm39) D1727G probably damaging Het
Kdm2b T C 5: 123,026,688 (GRCm39) T589A possibly damaging Het
Krtcap2 A G 3: 89,153,563 (GRCm39) probably benign Het
Map3k13 A G 16: 21,740,928 (GRCm39) S752G probably benign Het
Nktr T A 9: 121,577,949 (GRCm39) probably benign Het
Or1e33 A T 11: 73,738,521 (GRCm39) C143* probably null Het
Or8a1b C T 9: 37,622,760 (GRCm39) V272I probably benign Het
Parp4 T A 14: 56,889,761 (GRCm39) N1847K unknown Het
Pcdhga8 G C 18: 37,949,816 (GRCm39) V411L probably damaging Het
Piwil4 T C 9: 14,637,259 (GRCm39) T352A probably damaging Het
Ric8a A G 7: 140,438,429 (GRCm39) I223V probably benign Het
Slc25a51 C T 4: 45,399,768 (GRCm39) V141M probably benign Het
Slc7a5 A T 8: 122,614,234 (GRCm39) probably null Het
Slc7a9 A T 7: 35,152,845 (GRCm39) T88S probably damaging Het
Tbrg1 T A 9: 37,565,691 (GRCm39) E87V probably damaging Het
Tnfsf4 T C 1: 161,244,745 (GRCm39) S145P probably damaging Het
Tomm34 C A 2: 163,896,292 (GRCm39) probably null Het
Trpv3 A G 11: 73,186,150 (GRCm39) N647S probably benign Het
Upf1 G A 8: 70,790,216 (GRCm39) R637C probably damaging Het
Vmn2r23 A T 6: 123,679,884 (GRCm39) Q35H probably damaging Het
Wdtc1 C T 4: 133,036,130 (GRCm39) V137M probably damaging Het
Zfp276 G A 8: 123,991,666 (GRCm39) probably null Het
Zfp90 C T 8: 107,151,496 (GRCm39) P403L possibly 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
R4505: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'- AAAGCCGGCTACTTCCTGTG -3'
(R):5'- ACAGGTATGCCCCACTATGC -3'

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