Incidental Mutation 'IGL02096:2010111I01Rik'
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ID281119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2010111I01Rik
Ensembl Gene ENSMUSG00000021458
Gene NameRIKEN cDNA 2010111I01 gene
SynonymsApO, aminopeptidase O
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.210) question?
Stock #IGL02096
Quality Score
Status
Chromosome13
Chromosomal Location62964893-63326096 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 63061089 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 340 (A340E)
Ref Sequence ENSEMBL: ENSMUSP00000089148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021911] [ENSMUST00000091560]
Predicted Effect probably benign
Transcript: ENSMUST00000021911
AA Change: A338E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000021911
Gene: ENSMUSG00000021458
AA Change: A338E

DomainStartEndE-ValueType
low complexity region 143 154 N/A INTRINSIC
Pfam:Peptidase_M1 221 359 5.4e-11 PFAM
Pfam:Peptidase_M1 385 558 2.3e-15 PFAM
Pfam:Peptidase_MA_2 453 613 1.3e-12 PFAM
Leuk-A4-hydro_C 675 821 3.02e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000091560
AA Change: A340E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000089148
Gene: ENSMUSG00000021458
AA Change: A340E

DomainStartEndE-ValueType
low complexity region 143 154 N/A INTRINSIC
Pfam:Peptidase_M1 220 359 2.7e-11 PFAM
Pfam:Peptidase_M1 386 561 1.9e-15 PFAM
Leuk-A4-hydro_C 676 822 3.02e-37 SMART
Predicted Effect unknown
Transcript: ENSMUST00000220863
AA Change: A231E
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for one gene trapped allele are phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,102,533 L1584P probably damaging Het
Abca9 G T 11: 110,165,980 H5N probably benign Het
Acox1 A T 11: 116,178,198 I371N probably damaging Het
Bmp5 A G 9: 75,898,551 N445S probably damaging Het
Cacna1b G T 2: 24,678,915 A999E probably benign Het
Cdc27 A T 11: 104,528,568 probably benign Het
D430042O09Rik G A 7: 125,814,821 C379Y probably benign Het
Dmxl2 T C 9: 54,401,065 E2134G possibly damaging Het
Dnttip2 A G 3: 122,284,413 N698S possibly damaging Het
Duox1 A T 2: 122,344,174 K1271M probably damaging Het
Dync1h1 T C 12: 110,632,820 Y1870H possibly damaging Het
Edem3 A G 1: 151,804,719 T532A probably benign Het
Epx A T 11: 87,869,468 L440Q probably damaging Het
F11 A G 8: 45,246,754 F432L probably benign Het
Fam185a C A 5: 21,425,343 P59Q probably damaging Het
Fsip2 A G 2: 82,991,860 D5979G possibly damaging Het
Furin A G 7: 80,393,459 S335P probably damaging Het
Gm10130 T C 2: 150,323,714 Y5H probably damaging Het
Gtf3c1 T A 7: 125,659,112 Q1262L probably damaging Het
Hmmr A T 11: 40,707,429 V652E probably benign Het
Iapp A T 6: 142,303,473 N84I probably benign Het
Mmp17 C T 5: 129,598,688 Q304* probably null Het
Mpl T C 4: 118,457,136 T55A possibly damaging Het
Mst1r G A 9: 107,917,279 R1219H probably damaging Het
Muc6 T A 7: 141,639,850 probably benign Het
Nalcn C T 14: 123,594,503 V120I probably benign Het
Nt5dc1 A T 10: 34,399,810 C134* probably null Het
Obscn A C 11: 59,080,704 N2228K probably damaging Het
Olfr135 T A 17: 38,209,183 *313R probably null Het
Osbpl10 T C 9: 115,216,994 M566T possibly damaging Het
Pabpc1l G A 2: 164,044,347 V466I probably benign Het
Pdcd11 T G 19: 47,106,421 V548G probably benign Het
Prss27 G T 17: 24,044,977 K212N possibly damaging Het
Ranbp2 T A 10: 58,461,967 S399T probably damaging Het
Rgs19 A G 2: 181,689,283 S159P probably damaging Het
Sh2b1 A G 7: 126,469,293 S449P probably damaging Het
Slc6a18 T A 13: 73,672,751 Y238F probably benign Het
Stx11 T C 10: 12,941,480 I167V probably benign Het
Sucnr1 A G 3: 60,086,950 M300V possibly damaging Het
Synj2 A G 17: 5,990,353 T235A probably damaging Het
Ubxn2b T A 4: 6,214,749 I261N probably damaging Het
Vmn2r43 G A 7: 8,257,513 probably benign Het
Vmn2r45 A G 7: 8,481,444 M454T probably damaging Het
Vsig2 T A 9: 37,539,955 S51T probably damaging Het
Wdr41 T C 13: 95,017,456 probably benign Het
Wdr6 A C 9: 108,576,553 L44V probably damaging Het
Zfp592 T C 7: 81,025,048 Y587H probably damaging Het
Zfp735 A T 11: 73,711,428 K399N probably benign Het
Other mutations in 2010111I01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:2010111I01Rik APN 13 63199500 splice site probably benign
IGL00329:2010111I01Rik APN 13 63191163 missense probably damaging 1.00
IGL00336:2010111I01Rik APN 13 63015423 missense possibly damaging 0.78
IGL01384:2010111I01Rik APN 13 63190476 splice site probably benign
IGL01780:2010111I01Rik APN 13 63210125 missense probably benign 0.00
IGL01876:2010111I01Rik APN 13 63190522 missense probably damaging 1.00
IGL02166:2010111I01Rik APN 13 63015453 missense probably benign 0.02
IGL02184:2010111I01Rik APN 13 63068111 missense possibly damaging 0.50
R0139:2010111I01Rik UTSW 13 63190484 missense probably benign 0.01
R1209:2010111I01Rik UTSW 13 63191064 unclassified probably null
R1233:2010111I01Rik UTSW 13 63199520 missense probably damaging 0.96
R1756:2010111I01Rik UTSW 13 63068061 missense possibly damaging 0.95
R1786:2010111I01Rik UTSW 13 63210149 missense probably benign 0.00
R1861:2010111I01Rik UTSW 13 63015783 missense probably damaging 1.00
R2130:2010111I01Rik UTSW 13 63210149 missense probably benign 0.00
R2131:2010111I01Rik UTSW 13 63210149 missense probably benign 0.00
R3076:2010111I01Rik UTSW 13 63240115 missense probably damaging 0.96
R3702:2010111I01Rik UTSW 13 63015330 missense probably benign 0.01
R3912:2010111I01Rik UTSW 13 63156706 nonsense probably null
R4512:2010111I01Rik UTSW 13 63156667 missense probably damaging 0.99
R4593:2010111I01Rik UTSW 13 63068092 missense probably benign 0.01
R4596:2010111I01Rik UTSW 13 63068092 missense probably benign 0.01
R4597:2010111I01Rik UTSW 13 63068092 missense probably benign 0.01
R4616:2010111I01Rik UTSW 13 63298751 missense probably damaging 1.00
R4625:2010111I01Rik UTSW 13 63068092 missense probably benign 0.01
R4627:2010111I01Rik UTSW 13 63068092 missense probably benign 0.01
R4630:2010111I01Rik UTSW 13 63068092 missense probably benign 0.01
R4632:2010111I01Rik UTSW 13 63068092 missense probably benign 0.01
R4911:2010111I01Rik UTSW 13 63170939 critical splice acceptor site probably null
R5204:2010111I01Rik UTSW 13 63033090 missense probably benign 0.15
R5210:2010111I01Rik UTSW 13 63068110 missense probably benign 0.00
R5849:2010111I01Rik UTSW 13 63015498 missense probably benign 0.00
R5861:2010111I01Rik UTSW 13 63298812 missense probably damaging 1.00
R5960:2010111I01Rik UTSW 13 63240273 missense probably damaging 0.99
R6021:2010111I01Rik UTSW 13 63061082 missense probably damaging 1.00
R6048:2010111I01Rik UTSW 13 63240325 missense probably damaging 0.99
R6379:2010111I01Rik UTSW 13 63068243 missense probably damaging 0.97
Posted On2015-04-16