Incidental Mutation 'IGL01736:Apip'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apip
Ensembl Gene ENSMUSG00000010911
Gene NameAPAF1 interacting protein
SynonymsCGI-29, APIP2, Mmrp19
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.203) question?
Stock #IGL01736
Quality Score
Chromosomal Location103073675-103092644 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 103087141 bp
Amino Acid Change Valine to Methionine at position 62 (V62M)
Ref Sequence ENSEMBL: ENSMUSP00000011055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011055]
Predicted Effect probably damaging
Transcript: ENSMUST00000011055
AA Change: V62M

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000011055
Gene: ENSMUSG00000010911
AA Change: V62M

Aldolase_II 25 221 1.64e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147131
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155004
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,188,442 T290A possibly damaging Het
Appbp2 T C 11: 85,214,317 K141R possibly damaging Het
Arhgef18 T A 8: 3,451,624 probably benign Het
B3galt2 A G 1: 143,646,845 T240A probably benign Het
Bivm A T 1: 44,141,813 N385I probably damaging Het
Brd4 A T 17: 32,198,675 probably benign Het
Cage1 T C 13: 38,022,813 D352G possibly damaging Het
Ceacam10 A G 7: 24,781,110 Y102C probably damaging Het
Diaph3 T C 14: 86,918,846 D677G probably benign Het
Dis3l T C 9: 64,319,254 probably null Het
Dnah6 C T 6: 73,188,377 V582M probably benign Het
Fndc3b A G 3: 27,467,403 L541P probably damaging Het
Folh1 T C 7: 86,742,236 T384A possibly damaging Het
Gdpd3 T C 7: 126,766,523 L18P probably damaging Het
Grxcr2 T A 18: 41,998,982 K7N probably damaging Het
Gulo A G 14: 65,996,876 F246L probably benign Het
Inpp4b A T 8: 81,997,339 D500V probably benign Het
Ints4 C T 7: 97,526,642 L647F probably benign Het
Kif17 T A 4: 138,286,565 L264Q possibly damaging Het
Kif21a T C 15: 90,959,745 N1104S possibly damaging Het
Ly6e T G 15: 74,958,697 L132R probably benign Het
Mis18bp1 T A 12: 65,138,678 H905L probably damaging Het
Nr2f2 A G 7: 70,354,698 S269P probably damaging Het
Olfr1176 T A 2: 88,340,427 N287K probably damaging Het
Olfr1360 C A 13: 21,674,617 C109F probably benign Het
Olfr1394 G A 11: 49,160,527 C171Y probably damaging Het
Pde8b T C 13: 95,030,402 I757V probably damaging Het
Psg23 A T 7: 18,612,197 I191N possibly damaging Het
Slc12a4 A T 8: 105,945,843 probably null Het
Snph A T 2: 151,594,173 Y209* probably null Het
Tnfaip3 T C 10: 19,006,901 H256R probably damaging Het
Tnip3 T A 6: 65,596,123 probably benign Het
Ttc3 T A 16: 94,442,527 F1130Y probably damaging Het
Twnk T G 19: 45,010,188 V515G probably damaging Het
Usp24 T A 4: 106,423,461 I2324K probably benign Het
Vwa7 T C 17: 35,019,851 F305S probably damaging Het
Ythdc2 A T 18: 44,850,668 Q567L probably damaging Het
Zbtb11 T A 16: 55,998,160 I649K probably damaging Het
Zbtb49 T C 5: 38,200,860 Y683C probably damaging Het
Zfhx4 A T 3: 5,244,092 M793L possibly damaging Het
Zmym6 T G 4: 127,108,644 I556R probably damaging Het
Zswim8 C T 14: 20,714,712 P717S probably benign Het
Other mutations in Apip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Apip APN 2 103091912 missense probably benign 0.02
IGL01631:Apip APN 2 103073849 unclassified probably benign
IGL02734:Apip APN 2 103089544 splice site probably benign
R0256:Apip UTSW 2 103088571 missense possibly damaging 0.68
R1518:Apip UTSW 2 103089493 missense probably damaging 1.00
R1829:Apip UTSW 2 103088662 missense probably benign 0.09
R4930:Apip UTSW 2 103091881 nonsense probably null
R6292:Apip UTSW 2 103092467 missense probably benign 0.42
R6300:Apip UTSW 2 103087153 missense possibly damaging 0.92
R6725:Apip UTSW 2 103092525 missense possibly damaging 0.79
R6759:Apip UTSW 2 103091846 missense probably benign 0.02
R6843:Apip UTSW 2 103092489 missense probably benign 0.14
R6968:Apip UTSW 2 103089453 missense possibly damaging 0.94
R7168:Apip UTSW 2 103092468 nonsense probably null
Posted On2014-01-21