Incidental Mutation 'R2225:Mvb12b'
ID 239652
Institutional Source Beutler Lab
Gene Symbol Mvb12b
Ensembl Gene ENSMUSG00000038740
Gene Name multivesicular body subunit 12B
Synonyms Fam125b, 2610200O14Rik, 2610528K11Rik
MMRRC Submission 040226-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.864) question?
Stock # R2225 (G1)
Quality Score 210
Status Validated
Chromosome 2
Chromosomal Location 33619965-33777958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33730211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 60 (T60I)
Ref Sequence ENSEMBL: ENSMUSP00000115744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041555] [ENSMUST00000148660]
AlphaFold Q6KAU4
Predicted Effect possibly damaging
Transcript: ENSMUST00000041555
AA Change: T89I

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000048901
Gene: ENSMUSG00000038740
AA Change: T89I

DomainStartEndE-ValueType
low complexity region 13 22 N/A INTRINSIC
Pfam:DUF2464 46 297 1.7e-87 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000148660
AA Change: T60I

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115744
Gene: ENSMUSG00000038740
AA Change: T60I

DomainStartEndE-ValueType
Pfam:DUF2464 17 189 1.4e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192765
Meta Mutation Damage Score 0.2450 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A C 6: 88,813,349 (GRCm39) L439R probably damaging Het
Adcy10 A G 1: 165,345,829 (GRCm39) T293A probably damaging Het
Aen C A 7: 78,552,199 (GRCm39) T15K probably benign Het
Aggf1 A G 13: 95,507,354 (GRCm39) S144P probably damaging Het
Akap9 A T 5: 4,127,271 (GRCm39) R3706S probably damaging Het
Btd A G 14: 31,389,017 (GRCm39) D246G probably benign Het
Ccdc33 A G 9: 57,989,305 (GRCm39) S123P probably damaging Het
Cep152 T C 2: 125,423,704 (GRCm39) E899G probably damaging Het
Cpsf6 A T 10: 117,198,941 (GRCm39) probably benign Het
Crybg3 A G 16: 59,375,041 (GRCm39) I2071T probably damaging Het
Cwc22 T A 2: 77,738,495 (GRCm39) probably benign Het
Ddah2 T A 17: 35,279,187 (GRCm39) I16N probably damaging Het
Dld T G 12: 31,391,448 (GRCm39) M123L probably benign Het
Eif5b A T 1: 38,058,304 (GRCm39) K202I unknown Het
Gm6430 T C 1: 96,953,441 (GRCm39) noncoding transcript Het
Hdac9 C T 12: 34,457,801 (GRCm39) V251I probably benign Het
Hoxa10 T C 6: 52,209,616 (GRCm39) E52G probably damaging Het
Hspa4 C T 11: 53,177,760 (GRCm39) V117M probably benign Het
Htra4 T C 8: 25,515,736 (GRCm39) D434G probably benign Het
Itgb3 A G 11: 104,556,336 (GRCm39) M726V probably benign Het
Itih1 A G 14: 30,651,534 (GRCm39) V886A possibly damaging Het
Kdm1b TCATTGTCC TCATTGTCCATTGTCC 13: 47,217,564 (GRCm39) probably null Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Limk1 G T 5: 134,690,410 (GRCm39) probably null Het
Lonrf1 T C 8: 36,703,252 (GRCm39) D308G probably damaging Het
Muc4 G A 16: 32,587,316 (GRCm39) C2719Y possibly damaging Het
Muc4 A T 16: 32,576,265 (GRCm39) probably benign Het
Myh2 C T 11: 67,084,555 (GRCm39) T1698M probably benign Het
Naalad2 A T 9: 18,287,829 (GRCm39) V267E possibly damaging Het
Nkpd1 A T 7: 19,253,745 (GRCm39) Y37F probably benign Het
Or10d5 T C 9: 39,861,833 (GRCm39) K78R possibly damaging Het
Or2l5 T C 16: 19,333,996 (GRCm39) H130R probably benign Het
Or8g33 T C 9: 39,337,915 (GRCm39) I151V probably benign Het
Plekhg2 G A 7: 28,059,760 (GRCm39) P1190S probably benign Het
Reck A G 4: 43,922,837 (GRCm39) T371A probably benign Het
Rnf185 T C 11: 3,382,445 (GRCm39) D44G probably damaging Het
Rpgrip1l T C 8: 91,948,095 (GRCm39) E1196G probably benign Het
Rundc1 A G 11: 101,322,170 (GRCm39) probably benign Het
Sf3b3 T C 8: 111,541,205 (GRCm39) Y970C probably damaging Het
Sfxn1 A G 13: 54,239,536 (GRCm39) T20A possibly damaging Het
Shprh T C 10: 11,037,979 (GRCm39) probably benign Het
Spata31d1a T A 13: 59,851,529 (GRCm39) I200L probably benign Het
Srsf6 G A 2: 162,773,619 (GRCm39) S10N probably damaging Het
Tbxa2r A G 10: 81,168,983 (GRCm39) Y224C probably benign Het
Tlr5 A G 1: 182,799,941 (GRCm39) probably benign Het
Tmem270 A G 5: 134,935,492 (GRCm39) L21P probably damaging Het
Tmtc2 T C 10: 105,206,218 (GRCm39) E359G probably benign Het
Tnn A T 1: 159,975,035 (GRCm39) C131S probably damaging Het
Tnnt2 A G 1: 135,771,529 (GRCm39) probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tph1 A G 7: 46,314,598 (GRCm39) probably null Het
Wiz C T 17: 32,575,899 (GRCm39) V836M probably damaging Het
Zfp451 T A 1: 33,809,988 (GRCm39) probably benign Het
Zfp738 A G 13: 67,818,431 (GRCm39) F520S probably damaging 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
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
R6043:Mvb12b UTSW 2 33,764,402 (GRCm39) missense probably damaging 1.00
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'- ATGAAACGCAGTGCTGGCTG -3'
(R):5'- CACTAATGAGATGCCAGGAGAC -3'

Sequencing Primer
(F):5'- CAGTGCTGGCTGCTGATTCTAC -3'
(R):5'- ATGCCAGGAGACTTGGGGC -3'
Posted On 2014-10-15