Incidental Mutation 'IGL01384:2010111I01Rik'
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ID78999
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: 0.192) question?
Stock #IGL01384
Quality Score
Status
Chromosome13
Chromosomal Location62964893-63326096 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 63190476 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021911] [ENSMUST00000091560] [ENSMUST00000222907]
Predicted Effect probably benign
Transcript: ENSMUST00000021911
SMART Domains Protein: ENSMUSP00000021911
Gene: ENSMUSG00000021458

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
SMART Domains Protein: ENSMUSP00000089148
Gene: ENSMUSG00000021458

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 noncoding transcript
Transcript: ENSMUST00000220457
Predicted Effect probably benign
Transcript: ENSMUST00000220863
Predicted Effect probably benign
Transcript: ENSMUST00000221676
Predicted Effect probably benign
Transcript: ENSMUST00000222282
Predicted Effect probably benign
Transcript: ENSMUST00000222907
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,745,405 R683G possibly damaging Het
Abca9 A G 11: 110,145,637 S549P probably damaging Het
Adgrd1 T C 5: 129,097,209 S17P possibly damaging Het
AI464131 G T 4: 41,498,151 A493E probably damaging Het
Ankrd36 C A 11: 5,628,348 H546N probably benign Het
Bivm T G 1: 44,126,747 I119S possibly damaging Het
Ccdc88a G T 11: 29,503,915 D1693Y probably damaging Het
Clcn6 G A 4: 148,018,966 R242C probably damaging Het
Clec4a2 A C 6: 123,127,988 K79T probably damaging Het
Cspp1 G A 1: 10,116,680 R129H probably damaging Het
Cyp2c40 A T 19: 39,812,583 M47K probably benign Het
Dmxl1 A G 18: 49,857,334 D280G probably benign Het
Fbxo38 A G 18: 62,522,416 S400P probably damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Gen1 T C 12: 11,255,241 I184M probably benign Het
Gm9949 A T 18: 62,184,018 probably benign Het
Grtp1 A T 8: 13,179,629 V253E probably damaging Het
Lamb1 T A 12: 31,320,931 M1327K probably benign Het
Lrp2 T C 2: 69,453,812 D3874G probably null Het
Lrp2 T A 2: 69,483,502 D2295V probably damaging Het
Mrvi1 A G 7: 110,926,501 V148A possibly damaging Het
Muc5b A T 7: 141,846,818 I509F unknown Het
Mug1 A C 6: 121,849,474 probably benign Het
Myh7 A T 14: 54,971,459 L1903Q probably damaging Het
Mylk G T 16: 34,938,952 A1229S probably benign Het
Ncam1 A T 9: 49,509,852 I721N possibly damaging Het
Olfr888 T A 9: 38,109,562 I287N probably damaging Het
Pla2g2c A G 4: 138,743,701 K131R probably benign Het
Rpgrip1l A T 8: 91,273,640 I557N probably benign Het
Sirpb1b T A 3: 15,548,729 N98Y probably damaging Het
Stab1 A G 14: 31,150,408 V1182A probably benign Het
Tagap1 T C 17: 6,956,883 D138G probably benign Het
Tiam2 T A 17: 3,427,202 F567I probably benign Het
Ush2a A T 1: 188,553,228 D1987V possibly damaging Het
Vmn1r36 A T 6: 66,716,462 I37N probably damaging Het
Wif1 A T 10: 121,084,950 T226S possibly damaging Het
Zfp428 A G 7: 24,510,742 D22G possibly damaging Het
Zfp521 A T 18: 13,843,923 N1144K 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
IGL01780:2010111I01Rik APN 13 63210125 missense probably benign 0.00
IGL01876:2010111I01Rik APN 13 63190522 missense probably damaging 1.00
IGL02096:2010111I01Rik APN 13 63061089 missense probably benign 0.04
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 On2013-11-05