Incidental Mutation 'R5288:Vta1'
ID 424507
Institutional Source Beutler Lab
Gene Symbol Vta1
Ensembl Gene ENSMUSG00000019868
Gene Name vesicle (multivesicular body) trafficking 1
MMRRC Submission 042842-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R5288 (G1)
Quality Score 215
Status Not validated
Chromosome 10
Chromosomal Location 14654755-14705560 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 14705399 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 21 (L21F)
Ref Sequence ENSEMBL: ENSMUSP00000119829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020018] [ENSMUST00000154132] [ENSMUST00000190114] [ENSMUST00000191238]
AlphaFold Q9CR26
Predicted Effect unknown
Transcript: ENSMUST00000020018
AA Change: L21F
Predicted Effect unknown
Transcript: ENSMUST00000149485
AA Change: L20F
SMART Domains Protein: ENSMUSP00000118498
Gene: ENSMUSG00000019868
AA Change: L20F

low complexity region 1 12 N/A INTRINSIC
Pfam:Vta1 16 158 2.2e-50 PFAM
low complexity region 170 181 N/A INTRINSIC
low complexity region 184 197 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151805
Predicted Effect probably damaging
Transcript: ENSMUST00000154132
AA Change: L21F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119829
Gene: ENSMUSG00000019868
AA Change: L21F

low complexity region 2 12 N/A INTRINSIC
Pfam:Vta1 16 158 1.6e-53 PFAM
low complexity region 170 181 N/A INTRINSIC
low complexity region 184 197 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188021
Predicted Effect probably benign
Transcript: ENSMUST00000190114
SMART Domains Protein: ENSMUSP00000140754
Gene: ENSMUSG00000019865

Pfam:7tm_1 8 119 6.8e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191238
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110001I22Rik T G 16: 13,677,758 (GRCm38) N240K probably benign Het
Abcc12 A T 8: 86,566,539 (GRCm38) Y7N probably damaging Het
Adcy1 A C 11: 7,161,351 (GRCm38) I881L probably benign Het
Aftph T C 11: 20,726,994 (GRCm38) D205G probably damaging Het
Aldh7a1 T A 18: 56,534,253 (GRCm38) N316Y possibly damaging Het
Ankrd36 A G 11: 5,689,340 (GRCm38) probably benign Het
C87414 C T 5: 93,637,748 (GRCm38) M224I possibly damaging Het
Ccdc88a T G 11: 29,498,416 (GRCm38) N1465K possibly damaging Het
Ccpg1 G A 9: 73,013,044 (GRCm38) S647N probably benign Het
Cep70 T A 9: 99,281,075 (GRCm38) L325Q probably damaging Het
Cfap46 A G 7: 139,613,507 (GRCm38) probably null Het
Cftr C T 6: 18,226,129 (GRCm38) Q359* probably null Het
Chrne A T 11: 70,615,087 (GRCm38) N457K possibly damaging Het
Cntn2 A G 1: 132,523,677 (GRCm38) I438T probably benign Het
Cntn4 T C 6: 106,181,804 (GRCm38) L10P possibly damaging Het
Copg1 G T 6: 87,890,207 (GRCm38) M87I possibly damaging Het
Cyfip1 A T 7: 55,925,135 (GRCm38) M1045L possibly damaging Het
Cyp2c29 C T 19: 39,330,372 (GRCm38) P432L probably damaging Het
Dcaf11 T A 14: 55,563,376 (GRCm38) D96E probably damaging Het
Dmxl2 A G 9: 54,378,757 (GRCm38) S2715P probably benign Het
Dnhd1 G A 7: 105,714,437 (GRCm38) E4069K possibly damaging Het
Dpy19l4 T A 4: 11,289,721 (GRCm38) N330I probably damaging Het
Dpy19l4 G T 4: 11,304,014 (GRCm38) A132D probably damaging Het
Duox2 A G 2: 122,295,136 (GRCm38) V330A probably benign Het
Dusp11 T C 6: 85,947,605 (GRCm38) *322W probably null Het
Dusp8 T A 7: 142,089,993 (GRCm38) Q61L possibly damaging Het
Eml3 G A 19: 8,939,274 (GRCm38) G720S probably damaging Het
F11 A G 8: 45,246,796 (GRCm38) S418P probably damaging Het
Fam91a1 G A 15: 58,448,394 (GRCm38) S645N probably benign Het
Fat2 G A 11: 55,267,656 (GRCm38) T3412I probably benign Het
Fbxo38 A G 18: 62,540,971 (GRCm38) M13T probably benign Het
Fbxo48 G T 11: 16,954,329 (GRCm38) L160F possibly damaging Het
Gm10134 T A 2: 28,506,360 (GRCm38) probably benign Het
Gm11787 T C 4: 3,511,795 (GRCm38) noncoding transcript Het
Gm14085 C A 2: 122,522,778 (GRCm38) L480I probably benign Het
Gpatch8 A T 11: 102,508,227 (GRCm38) probably null Het
Gucy2g G A 19: 55,215,116 (GRCm38) A750V probably damaging Het
Hephl1 T C 9: 15,076,854 (GRCm38) T653A possibly damaging Het
Herc3 T A 6: 58,874,278 (GRCm38) M504K probably damaging Het
Hmcn2 A G 2: 31,460,321 (GRCm38) T5077A probably benign Het
Ifitm3 T C 7: 141,010,641 (GRCm38) N2S probably benign Het
Ighe T C 12: 113,271,472 (GRCm38) H356R probably benign Het
Ighv10-3 T A 12: 114,523,505 (GRCm38) M99L probably benign Het
Izumo4 C A 10: 80,702,805 (GRCm38) C30* probably null Het
Jag1 A T 2: 137,095,544 (GRCm38) H303Q possibly damaging Het
Kif24 T C 4: 41,395,373 (GRCm38) E500G probably benign Het
Kng1 A T 16: 23,079,092 (GRCm38) D414V probably damaging Het
Loxhd1 A C 18: 77,363,612 (GRCm38) D410A probably damaging Het
Ltn1 T C 16: 87,416,011 (GRCm38) K554R possibly damaging Het
Ly75 A G 2: 60,303,641 (GRCm38) C1547R probably damaging Het
Ms4a6d A T 19: 11,587,136 (GRCm38) S124T possibly damaging Het
Mtfr2 A G 10: 20,357,702 (GRCm38) D339G probably damaging Het
Myh10 T A 11: 68,801,608 (GRCm38) L1369Q probably damaging Het
Myh11 A T 16: 14,208,008 (GRCm38) V1366D possibly damaging Het
Nadsyn1 A G 7: 143,803,286 (GRCm38) V491A possibly damaging Het
Nav3 T C 10: 109,853,105 (GRCm38) N437S probably benign Het
Ncf1 A G 5: 134,221,805 (GRCm38) L373P probably damaging Het
Neb A T 2: 52,189,861 (GRCm38) I85N probably damaging Het
Nktr A G 9: 121,748,593 (GRCm38) K576E probably benign Het
Nmur2 T A 11: 56,040,214 (GRCm38) I224F probably damaging Het
Oas3 A G 5: 120,756,990 (GRCm38) F978S probably damaging Het
Olfr1115 C T 2: 87,252,483 (GRCm38) P182L probably benign Het
Olfr1331 T C 4: 118,869,575 (GRCm38) S264P probably damaging Het
Olfr330 A T 11: 58,529,482 (GRCm38) M168K probably damaging Het
Olfr457 T A 6: 42,471,252 (GRCm38) I309F probably benign Het
Olfr484 T C 7: 108,125,168 (GRCm38) T32A probably benign Het
Pcyox1 A T 6: 86,392,354 (GRCm38) probably null Het
Pdcd7 G A 9: 65,358,692 (GRCm38) W477* probably null Het
Pitpnm1 T C 19: 4,103,435 (GRCm38) F197S probably damaging Het
Plce1 C A 19: 38,760,091 (GRCm38) N1755K probably damaging Het
Pnpla7 C A 2: 25,041,019 (GRCm38) P882Q probably damaging Het
Pold2 A G 11: 5,876,760 (GRCm38) L58P probably damaging Het
Pomt1 C G 2: 32,244,299 (GRCm38) Y277* probably null Het
Pou4f2 A G 8: 78,436,329 (GRCm38) Y26H unknown Het
Ppm1e A T 11: 87,358,551 (GRCm38) L118Q possibly damaging Het
Prdx2 T A 8: 84,971,673 (GRCm38) Y164* probably null Het
Prkra T G 2: 76,639,278 (GRCm38) T146P probably damaging Het
Prpf8 A G 11: 75,495,799 (GRCm38) D1038G probably damaging Het
Rab4a A T 8: 123,827,374 (GRCm38) I16L probably benign Het
Rai2 A G X: 161,778,640 (GRCm38) N363S probably benign Het
Ranbp17 A T 11: 33,219,241 (GRCm38) V991D possibly damaging Het
Rimbp2 G A 5: 128,788,592 (GRCm38) T557M probably benign Het
Rmi1 G A 13: 58,409,466 (GRCm38) G510R probably damaging Het
Sdad1 A G 5: 92,286,825 (GRCm38) *687Q probably null Het
Sema6d T C 2: 124,664,246 (GRCm38) L720P probably damaging Het
Setx T G 2: 29,134,033 (GRCm38) probably null Het
Sgsm3 T C 15: 81,007,999 (GRCm38) V256A probably benign Het
Soga3 A G 10: 29,196,770 (GRCm38) D686G probably benign Het
Sppl2c T A 11: 104,187,301 (GRCm38) I309K possibly damaging Het
Stard9 A G 2: 120,700,630 (GRCm38) E2456G probably damaging Het
Strn3 C G 12: 51,648,020 (GRCm38) R320P probably damaging Het
Supv3l1 A T 10: 62,430,596 (GRCm38) N600K possibly damaging Het
Syne2 T A 12: 76,099,338 (GRCm38) S6377T possibly damaging Het
Tas2r123 A T 6: 132,847,227 (GRCm38) H29L probably benign Het
Tbl3 C T 17: 24,705,970 (GRCm38) V52M possibly damaging Het
Tbp A G 17: 15,507,347 (GRCm38) I145V probably benign Het
Tcf20 A T 15: 82,855,709 (GRCm38) S514T possibly damaging Het
Tgm4 A G 9: 123,056,494 (GRCm38) Y367C probably damaging Het
Tle1 C T 4: 72,141,844 (GRCm38) V258M probably damaging Het
Tln1 C T 4: 43,540,661 (GRCm38) V1447I probably benign Het
Tnfrsf11b C T 15: 54,278,226 (GRCm38) A8T probably benign Het
Trim80 A T 11: 115,448,017 (GRCm38) T558S probably benign Het
Trmt6 C A 2: 132,808,783 (GRCm38) A302S probably benign Het
Tsen15 C T 1: 152,383,380 (GRCm38) V76I probably damaging Het
Ttc17 A T 2: 94,303,640 (GRCm38) W1067R probably damaging Het
Ucn3 A T 13: 3,941,474 (GRCm38) F59L probably benign Het
Ulk3 T A 9: 57,590,740 (GRCm38) I108N possibly damaging Het
Vmn2r94 A C 17: 18,244,466 (GRCm38) Y521D probably damaging Het
Vps45 T C 3: 96,057,774 (GRCm38) M1V probably null Het
Zdhhc21 C T 4: 82,847,692 (GRCm38) G2D probably damaging Het
Zfp169 A T 13: 48,490,275 (GRCm38) C459S possibly damaging Het
Zfp90 C T 8: 106,425,368 (GRCm38) T571M probably damaging Het
Zswim8 A T 14: 20,718,871 (GRCm38) N1119I possibly damaging Het
Other mutations in Vta1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01684:Vta1 APN 10 14,684,131 (GRCm38) missense probably damaging 0.98
IGL02331:Vta1 APN 10 14,705,394 (GRCm38) missense probably damaging 1.00
IGL03161:Vta1 APN 10 14,667,972 (GRCm38) missense possibly damaging 0.54
R2680:Vta1 UTSW 10 14,705,427 (GRCm38) unclassified probably benign
R4751:Vta1 UTSW 10 14,655,816 (GRCm38) missense probably benign 0.03
R5064:Vta1 UTSW 10 14,705,478 (GRCm38) unclassified probably benign
R5635:Vta1 UTSW 10 14,668,122 (GRCm38) splice site probably null
R6146:Vta1 UTSW 10 14,705,352 (GRCm38) missense probably damaging 1.00
R7853:Vta1 UTSW 10 14,655,717 (GRCm38) missense probably damaging 0.96
R8151:Vta1 UTSW 10 14,667,953 (GRCm38) missense probably damaging 1.00
R9052:Vta1 UTSW 10 14,675,948 (GRCm38) missense probably benign 0.14
R9143:Vta1 UTSW 10 14,676,032 (GRCm38) missense possibly damaging 0.83
R9172:Vta1 UTSW 10 14,675,999 (GRCm38) missense probably damaging 1.00
R9495:Vta1 UTSW 10 14,655,839 (GRCm38) missense probably benign 0.22
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-08-04