Incidental Mutation 'R6043:Mvb12b'
ID 483646
Institutional Source Beutler Lab
Gene Symbol Mvb12b
Ensembl Gene ENSMUSG00000038740
Gene Name multivesicular body subunit 12B
Synonyms Fam125b, 2610200O14Rik, 2610528K11Rik
MMRRC Submission 044211-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.864) question?
Stock # R6043 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 33619965-33777958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 33764402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 49 (T49K)
Ref Sequence ENSEMBL: ENSMUSP00000048901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041555] [ENSMUST00000148660]
AlphaFold Q6KAU4
Predicted Effect probably damaging
Transcript: ENSMUST00000041555
AA Change: T49K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048901
Gene: ENSMUSG00000038740
AA Change: T49K

DomainStartEndE-ValueType
low complexity region 13 22 N/A INTRINSIC
Pfam:DUF2464 46 297 1.7e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146892
Predicted Effect probably damaging
Transcript: ENSMUST00000148660
AA Change: T20K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115744
Gene: ENSMUSG00000038740
AA Change: T20K

DomainStartEndE-ValueType
Pfam:DUF2464 17 189 1.4e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192765
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 T C 1: 171,080,170 (GRCm39) F44S probably damaging Het
Ap3b1 A T 13: 94,613,501 (GRCm39) T667S probably benign Het
Camsap1 T C 2: 25,819,937 (GRCm39) Y1516C probably benign Het
Ccl17 A G 8: 95,537,100 (GRCm39) M1V probably null Het
Cfhr1 T A 1: 139,478,606 (GRCm39) T255S probably benign Het
Clcn6 T C 4: 148,093,245 (GRCm39) N812D probably damaging Het
Cyp2b10 T C 7: 25,616,764 (GRCm39) F402L probably damaging Het
Dgkz A C 2: 91,766,234 (GRCm39) S776A probably benign Het
Dnaaf2 A T 12: 69,244,122 (GRCm39) L313Q probably damaging Het
Dnah10 G A 5: 124,878,924 (GRCm39) G2728S probably damaging Het
Dnah7b T A 1: 46,178,949 (GRCm39) M874K probably benign Het
Eef1akmt3 A T 10: 126,869,147 (GRCm39) L109Q probably damaging Het
Egf A G 3: 129,530,434 (GRCm39) S243P probably benign Het
Fbxw21 T C 9: 108,974,607 (GRCm39) I304M possibly damaging Het
Fcgr4 T C 1: 170,847,699 (GRCm39) V99A probably damaging Het
Fhdc1 T C 3: 84,356,193 (GRCm39) E417G probably damaging Het
Flnc G T 6: 29,446,607 (GRCm39) G939V probably damaging Het
Herc1 A G 9: 66,315,436 (GRCm39) M1173V probably benign Het
Hspa2 C T 12: 76,453,096 (GRCm39) H597Y probably damaging Het
Itgb4 C T 11: 115,870,212 (GRCm39) T64I probably benign Het
Kif16b A G 2: 142,553,820 (GRCm39) S993P probably damaging Het
Kitl T A 10: 99,899,947 (GRCm39) V84E probably damaging Het
Klra17 A G 6: 129,849,150 (GRCm39) probably null Het
Map2k3 A G 11: 60,837,572 (GRCm39) D224G probably benign Het
Medag T G 5: 149,345,672 (GRCm39) F4V probably benign Het
Mob3b C T 4: 34,985,993 (GRCm39) V182I probably benign Het
Naaladl2 A G 3: 24,112,378 (GRCm39) V568A possibly damaging Het
Nbea T C 3: 55,693,896 (GRCm39) E2174G probably benign Het
Nmd3 T C 3: 69,652,580 (GRCm39) Y389H probably benign Het
Or13g1 A G 7: 85,955,547 (GRCm39) I258T probably damaging Het
Or4p19 C T 2: 88,242,589 (GRCm39) E138K probably benign Het
Pcare T C 17: 72,057,037 (GRCm39) D880G probably damaging Het
Pcdh1 T A 18: 38,336,327 (GRCm39) N103Y probably damaging Het
Pcm1 A G 8: 41,781,815 (GRCm39) D1905G possibly damaging Het
Plcd1 A G 9: 118,901,667 (GRCm39) F619S probably damaging Het
Ptdss1 T A 13: 67,111,433 (GRCm39) D166E probably damaging Het
Rnf213 T C 11: 119,332,927 (GRCm39) V2713A probably damaging Het
Sema4f T C 6: 82,896,634 (GRCm39) N200D probably damaging Het
Tjp1 A T 7: 64,973,837 (GRCm39) N472K probably damaging Het
Trav6n-5 T C 14: 53,342,608 (GRCm39) Y49H probably benign Het
Trbv2 A G 6: 41,024,904 (GRCm39) T107A probably benign Het
Unc13c T C 9: 73,643,933 (GRCm39) N1177S possibly damaging Het
Vmn1r212 A G 13: 23,068,258 (GRCm39) V25A probably damaging Het
Zfhx4 T G 3: 5,468,487 (GRCm39) S2882A probably benign Het
Zswim5 A C 4: 116,819,818 (GRCm39) S408R probably benign Het
Other mutations in Mvb12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02429:Mvb12b APN 2 33,717,800 (GRCm39) missense probably damaging 1.00
IGL02493:Mvb12b APN 2 33,730,221 (GRCm39) missense probably benign 0.05
R1845:Mvb12b UTSW 2 33,730,169 (GRCm39) critical splice donor site probably null
R2225:Mvb12b UTSW 2 33,730,211 (GRCm39) missense possibly damaging 0.88
R4545:Mvb12b UTSW 2 33,717,712 (GRCm39) missense possibly damaging 0.63
R5631:Mvb12b UTSW 2 33,717,715 (GRCm39) missense probably damaging 1.00
R5733:Mvb12b UTSW 2 33,717,728 (GRCm39) missense probably benign 0.02
R6386:Mvb12b UTSW 2 33,717,754 (GRCm39) missense probably damaging 1.00
R6563:Mvb12b UTSW 2 33,715,128 (GRCm39) missense probably benign 0.04
R8160:Mvb12b UTSW 2 33,730,234 (GRCm39) missense probably benign 0.44
Z1176:Mvb12b UTSW 2 33,764,382 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGATGTCAAAAGCCTGTGCC -3'
(R):5'- TGTAGAGCTCACTGAGGCTG -3'

Sequencing Primer
(F):5'- AAAGCCTGTGCCAGCCAG -3'
(R):5'- TGGCTGCCCCAGGATTCTC -3'
Posted On 2017-07-14