Incidental Mutation 'IGL01292:Xpnpep3'
ID72935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xpnpep3
Ensembl Gene ENSMUSG00000022401
Gene NameX-prolyl aminopeptidase 3, mitochondrial
SynonymsE430012M05Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01292
Quality Score
Status
Chromosome15
Chromosomal Location81400138-81457482 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 81427498 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 135 (V135G)
Ref Sequence ENSEMBL: ENSMUSP00000132822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041609] [ENSMUST00000163754] [ENSMUST00000165258] [ENSMUST00000167799]
Predicted Effect probably damaging
Transcript: ENSMUST00000041609
AA Change: V135G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000038331
Gene: ENSMUSG00000022401
AA Change: V135G

DomainStartEndE-ValueType
AMP_N 67 213 6.36e-54 SMART
Pfam:Peptidase_M24 253 366 1.8e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163296
Predicted Effect probably damaging
Transcript: ENSMUST00000163754
AA Change: V135G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132822
Gene: ENSMUSG00000022401
AA Change: V135G

DomainStartEndE-ValueType
AMP_N 67 213 6.36e-54 SMART
Pfam:Peptidase_M24 253 481 1.1e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164144
Predicted Effect probably benign
Transcript: ENSMUST00000165258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167799
SMART Domains Protein: ENSMUSP00000126038
Gene: ENSMUSG00000022401

DomainStartEndE-ValueType
AMP_N 67 203 6.87e-50 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,660,874 S1045G probably benign Het
Aak1 T C 6: 86,949,538 probably benign Het
Car15 A G 16: 17,835,529 F258S probably damaging Het
Cpd A G 11: 76,846,245 I241T possibly damaging Het
Dchs1 T C 7: 105,760,891 D1758G probably damaging Het
Eogt T A 6: 97,144,027 N75I possibly damaging Het
Eps8l1 T C 7: 4,478,920 probably benign Het
Gdpd4 T C 7: 98,014,954 probably benign Het
Igbp1b C T 6: 138,657,535 E304K probably benign Het
Ighv1-63 A G 12: 115,495,858 S40P probably damaging Het
Intu T C 3: 40,664,266 V234A probably benign Het
Lrrc6 A T 15: 66,481,233 probably benign Het
Mars A T 10: 127,305,518 I334N probably damaging Het
Morc2a C A 11: 3,688,175 A967D probably damaging Het
Mtrf1l A T 10: 5,814,090 M291K probably benign Het
Muc19 A G 15: 91,894,276 noncoding transcript Het
Myl3 A T 9: 110,767,977 D135V probably damaging Het
Myt1 T A 2: 181,805,012 L537M probably damaging Het
Ndst4 A G 3: 125,438,754 D324G probably damaging Het
Plce1 T A 19: 38,651,785 probably benign Het
Prkab1 A T 5: 116,024,110 F47Y probably damaging Het
Prkag2 C T 5: 25,021,965 S98N probably benign Het
Rasgef1a T A 6: 118,080,383 V15D possibly damaging Het
Scgb1b19 T A 7: 33,287,626 C67* probably null Het
Slc25a15 T C 8: 22,390,036 D31G possibly damaging Het
Slc4a11 C T 2: 130,690,832 probably null Het
Snx15 A T 19: 6,119,885 M331K probably benign Het
Tsks T C 7: 44,952,558 Y224H probably damaging Het
Ufd1 T C 16: 18,821,114 S123P probably damaging Het
Other mutations in Xpnpep3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01093:Xpnpep3 APN 15 81436768 missense possibly damaging 0.93
IGL02219:Xpnpep3 APN 15 81427456 missense probably damaging 1.00
zebra UTSW 15 81430842 missense probably damaging 1.00
FR4449:Xpnpep3 UTSW 15 81427422 missense possibly damaging 0.96
R0069:Xpnpep3 UTSW 15 81430798 missense probably benign 0.18
R0069:Xpnpep3 UTSW 15 81430798 missense probably benign 0.18
R0304:Xpnpep3 UTSW 15 81430714 missense probably damaging 1.00
R0518:Xpnpep3 UTSW 15 81427492 missense possibly damaging 0.94
R0521:Xpnpep3 UTSW 15 81427492 missense possibly damaging 0.94
R0639:Xpnpep3 UTSW 15 81430837 missense probably benign 0.32
R0725:Xpnpep3 UTSW 15 81430842 missense probably damaging 1.00
R1674:Xpnpep3 UTSW 15 81430767 missense probably benign
R1840:Xpnpep3 UTSW 15 81427353 missense probably benign 0.00
R2571:Xpnpep3 UTSW 15 81450926 missense probably damaging 1.00
R3956:Xpnpep3 UTSW 15 81451029 splice site probably benign
R4242:Xpnpep3 UTSW 15 81427656 missense probably benign 0.05
R4997:Xpnpep3 UTSW 15 81448376 nonsense probably null
R5635:Xpnpep3 UTSW 15 81436769 missense probably benign 0.40
R5789:Xpnpep3 UTSW 15 81415864 intron probably benign
R6190:Xpnpep3 UTSW 15 81438099 missense probably benign 0.00
R7006:Xpnpep3 UTSW 15 81442448 missense probably damaging 1.00
R7295:Xpnpep3 UTSW 15 81414534 missense probably damaging 0.99
R7353:Xpnpep3 UTSW 15 81430887 missense probably benign 0.42
Posted On2013-10-07