Incidental Mutation 'IGL02429:Mvb12b'
ID 293047
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mvb12b
Ensembl Gene ENSMUSG00000038740
Gene Name multivesicular body subunit 12B
Synonyms Fam125b, 2610200O14Rik, 2610528K11Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.864) question?
Stock # IGL02429
Quality Score
Status
Chromosome 2
Chromosomal Location 33619965-33777958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33717800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 114 (R114W)
Ref Sequence ENSEMBL: ENSMUSP00000115744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041555] [ENSMUST00000148660]
AlphaFold Q6KAU4
Predicted Effect probably damaging
Transcript: ENSMUST00000041555
AA Change: R143W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048901
Gene: ENSMUSG00000038740
AA Change: R143W

DomainStartEndE-ValueType
low complexity region 13 22 N/A INTRINSIC
Pfam:DUF2464 46 297 1.7e-87 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148660
AA Change: R114W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115744
Gene: ENSMUSG00000038740
AA Change: R114W

DomainStartEndE-ValueType
Pfam:DUF2464 17 189 1.4e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192765
Coding Region Coverage
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd A T 1: 127,687,453 (GRCm39) D245V probably damaging Het
Adamts16 G A 13: 70,935,289 (GRCm39) probably benign Het
Arhgap36 A G X: 48,583,583 (GRCm39) D77G possibly damaging Het
Asap1 A T 15: 64,039,589 (GRCm39) M187K probably damaging Het
Aspm T C 1: 139,407,548 (GRCm39) V2145A probably benign Het
Ccn6 T C 10: 39,030,989 (GRCm39) N178S probably benign Het
Cd46 T C 1: 194,767,732 (GRCm39) T110A probably benign Het
Chl1 T A 6: 103,641,770 (GRCm39) probably benign Het
Clca3b A G 3: 144,533,896 (GRCm39) L493S probably damaging Het
Col11a2 C T 17: 34,261,266 (GRCm39) T72M probably damaging Het
Cyfip1 T A 7: 55,521,730 (GRCm39) probably benign Het
Frmd4b T C 6: 97,302,390 (GRCm39) probably benign Het
Glyr1 A G 16: 4,837,240 (GRCm39) M397T probably benign Het
Golm2 A G 2: 121,742,468 (GRCm39) T306A probably benign Het
Gtf2a1l G T 17: 88,976,141 (GRCm39) M1I probably null Het
Hdac4 A G 1: 91,940,417 (GRCm39) L154P probably benign Het
Ints8 A T 4: 11,231,720 (GRCm39) C422S probably damaging Het
Kng2 T A 16: 22,830,829 (GRCm39) K160I probably damaging Het
Lrrc23 C A 6: 124,755,130 (GRCm39) A136S probably damaging Het
Ltf T C 9: 110,855,193 (GRCm39) I402T possibly damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mfsd4a T C 1: 131,956,237 (GRCm39) H509R probably benign Het
Mthfd1l A G 10: 4,039,334 (GRCm39) K782E probably damaging Het
Myh4 A T 11: 67,149,808 (GRCm39) K1818* probably null Het
Myo1h C T 5: 114,497,799 (GRCm39) probably benign Het
Ncapd3 T A 9: 27,000,598 (GRCm39) S1402T probably benign Het
Nutm2 A G 13: 50,623,516 (GRCm39) N71S probably benign Het
Oas1c C A 5: 120,940,133 (GRCm39) M344I probably benign Het
Or10g7 T A 9: 39,905,138 (GRCm39) F11I probably benign Het
Phldb1 A G 9: 44,612,247 (GRCm39) L1019P probably damaging Het
Plxnc1 T C 10: 94,718,453 (GRCm39) E494G probably benign Het
Pole T C 5: 110,447,666 (GRCm39) I734T probably benign Het
Ppp1r3b T C 8: 35,851,769 (GRCm39) S203P probably benign Het
Pth2r G T 1: 65,385,998 (GRCm39) M240I probably benign Het
Ptprr T A 10: 116,109,672 (GRCm39) F394I probably damaging Het
Rabgef1 T C 5: 130,239,329 (GRCm39) S265P possibly damaging Het
Rbpjl A G 2: 164,255,815 (GRCm39) D353G possibly damaging Het
Rfc3 A G 5: 151,574,596 (GRCm39) Y8H probably benign Het
Rph3a A T 5: 121,118,187 (GRCm39) probably null Het
Runx1t1 A T 4: 13,865,294 (GRCm39) probably benign Het
Slc37a1 T A 17: 31,519,483 (GRCm39) probably null Het
Slc38a10 T C 11: 120,025,714 (GRCm39) probably benign Het
Slc38a6 T C 12: 73,397,342 (GRCm39) V328A probably benign Het
Slf2 T C 19: 44,930,167 (GRCm39) S415P probably benign Het
Spata17 C A 1: 186,872,631 (GRCm39) R60L possibly damaging Het
Svil T A 18: 5,118,369 (GRCm39) D2237E probably benign Het
Swap70 T A 7: 109,863,179 (GRCm39) N169K probably benign Het
Tnfrsf11a A G 1: 105,755,443 (GRCm39) D505G probably benign Het
Traf1 A G 2: 34,839,115 (GRCm39) V70A probably benign Het
Traf3 T A 12: 111,209,899 (GRCm39) V165E probably benign Het
Trpc5 T C X: 143,194,795 (GRCm39) E570G probably damaging Het
Ubash3a A G 17: 31,460,279 (GRCm39) N601S probably benign Het
Vmn2r30 C T 7: 7,337,243 (GRCm39) C131Y possibly damaging Het
Vmn2r43 T C 7: 8,258,551 (GRCm39) I221V probably benign Het
Vmn2r97 T A 17: 19,150,596 (GRCm39) V481E possibly damaging Het
Other mutations in Mvb12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16