Incidental Mutation 'IGL02016:Atp6v1e2'
ID183768
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v1e2
Ensembl Gene ENSMUSG00000053375
Gene NameATPase, H+ transporting, lysosomal V1 subunit E2
SynonymsE1, Atp6e1, 4930500C14Rik, lysosomal 31kDa
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.203) question?
Stock #IGL02016
Quality Score
Status
Chromosome17
Chromosomal Location86944109-86947887 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86944394 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 192 (V192D)
Ref Sequence ENSEMBL: ENSMUSP00000065285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065758]
Predicted Effect probably damaging
Transcript: ENSMUST00000065758
AA Change: V192D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065285
Gene: ENSMUSG00000053375
AA Change: V192D

DomainStartEndE-ValueType
Pfam:vATP-synt_E 18 216 1e-67 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik C A 2: 127,186,955 G108V probably damaging Het
4931406P16Rik A G 7: 34,239,101 M791T possibly damaging Het
A2ml1 T C 6: 128,558,335 E804G probably damaging Het
Abcg4 G A 9: 44,287,350 T35M probably damaging Het
Acad9 A T 3: 36,088,486 probably null Het
Adgrv1 T C 13: 81,397,453 D5571G probably damaging Het
App T A 16: 85,056,521 D223V unknown Het
Arhgap30 A G 1: 171,407,747 E563G probably damaging Het
Atr G A 9: 95,927,175 V1969I probably benign Het
Bean1 T C 8: 104,210,918 L43S possibly damaging Het
Cand1 A G 10: 119,212,568 V436A probably damaging Het
Card6 T C 15: 5,108,256 I39V probably damaging Het
Ccdc73 A G 2: 104,975,616 T300A probably benign Het
Ccdc88c T C 12: 100,941,207 T962A possibly damaging Het
Chd6 G T 2: 160,983,678 L1169I probably damaging Het
Chrna7 A T 7: 63,103,835 V312E probably damaging Het
Dna2 A G 10: 62,960,412 N540S probably benign Het
Elavl2 T C 4: 91,260,935 E209G probably damaging Het
Elmo2 A G 2: 165,295,012 probably null Het
Fto A T 8: 91,666,406 R494* probably null Het
Gm13088 T A 4: 143,655,319 E269V possibly damaging Het
Gm9966 A T 7: 95,958,807 T112S unknown Het
Gtf3c1 A C 7: 125,668,039 I940S probably damaging Het
Hecw2 C A 1: 53,831,543 Q1426H possibly damaging Het
Iars2 A C 1: 185,303,306 L579R probably damaging Het
Ifih1 A C 2: 62,606,984 M537R probably benign Het
Kcnmb4 A G 10: 116,446,462 probably benign Het
Large2 A G 2: 92,369,543 V175A possibly damaging Het
Mad2l1bp A G 17: 46,153,502 probably benign Het
Muc20 A T 16: 32,797,352 F14Y possibly damaging Het
Myom2 A G 8: 15,125,195 E1258G probably benign Het
Olfr1066 A T 2: 86,455,497 M258K probably damaging Het
Parp1 A T 1: 180,598,951 probably null Het
Prkra A T 2: 76,643,309 probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Scd1 C T 19: 44,400,307 G235S probably benign Het
Sdk1 A G 5: 142,034,429 H654R possibly damaging Het
Sesn3 A G 9: 14,320,337 Y188C probably damaging Het
Slc26a4 T C 12: 31,535,667 M461V probably damaging Het
Slc28a2 A G 2: 122,455,341 I439V probably benign Het
Smc5 T A 19: 23,273,712 N36I probably benign Het
Smurf2 A G 11: 106,822,678 F745S probably damaging Het
Spata22 A G 11: 73,336,031 N65S possibly damaging Het
Tanc1 A G 2: 59,843,590 T1680A probably benign Het
Tnxb G A 17: 34,672,275 V531M probably damaging Het
Trpm3 T G 19: 22,902,069 Y727* probably null Het
Tssk1 A T 16: 17,894,894 Y181F probably damaging Het
Ucp3 T A 7: 100,480,559 V136E probably damaging Het
Uqcrfs1 A C 13: 30,545,114 V45G probably benign Het
Uvrag A G 7: 99,099,442 I101T probably benign Het
Vmn1r206 A T 13: 22,620,164 L291Q probably damaging Het
Wnk2 T A 13: 49,056,905 I1813F probably damaging Het
Zbtb3 T A 19: 8,803,215 V64E probably damaging Het
Zeb2 A G 2: 44,988,874 I1115T possibly damaging Het
Zfp280b C T 10: 76,039,111 L275F possibly damaging Het
Other mutations in Atp6v1e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01593:Atp6v1e2 APN 17 86944299 missense probably damaging 1.00
IGL02706:Atp6v1e2 APN 17 86944934 missense probably damaging 1.00
R0505:Atp6v1e2 UTSW 17 86944578 missense probably benign 0.04
R4749:Atp6v1e2 UTSW 17 86944707 missense probably benign 0.10
R4819:Atp6v1e2 UTSW 17 86944538 missense probably benign 0.38
R5829:Atp6v1e2 UTSW 17 86944716 missense probably benign 0.01
R7010:Atp6v1e2 UTSW 17 86944345 missense probably benign 0.05
R7726:Atp6v1e2 UTSW 17 86944385 missense probably damaging 1.00
Posted On2014-05-07