Incidental Mutation 'IGL01736:Apip'
ID 105701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apip
Ensembl Gene ENSMUSG00000010911
Gene Name APAF1 interacting protein
Synonyms APIP2, CGI-29, Mmrp19
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01736
Quality Score
Status
Chromosome 2
Chromosomal Location 102904020-102922989 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102917486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 62 (V62M)
Ref Sequence ENSEMBL: ENSMUSP00000011055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011055]
AlphaFold Q9WVQ5
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

DomainStartEndE-ValueType
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: 114,326,503 (GRCm39) T290A possibly damaging Het
Appbp2 T C 11: 85,105,143 (GRCm39) K141R possibly damaging Het
Arhgef18 T A 8: 3,501,624 (GRCm39) probably benign Het
B3galt2 A G 1: 143,522,583 (GRCm39) T240A probably benign Het
Bivm A T 1: 44,180,973 (GRCm39) N385I probably damaging Het
Brd4 A T 17: 32,417,649 (GRCm39) probably benign Het
Cage1 T C 13: 38,206,789 (GRCm39) D352G possibly damaging Het
Ceacam10 A G 7: 24,480,535 (GRCm39) Y102C probably damaging Het
Diaph3 T C 14: 87,156,282 (GRCm39) D677G probably benign Het
Dis3l T C 9: 64,226,536 (GRCm39) probably null Het
Dnah6 C T 6: 73,165,360 (GRCm39) V582M probably benign Het
Fndc3b A G 3: 27,521,552 (GRCm39) L541P probably damaging Het
Folh1 T C 7: 86,391,444 (GRCm39) T384A possibly damaging Het
Gdpd3 T C 7: 126,365,695 (GRCm39) L18P probably damaging Het
Grxcr2 T A 18: 42,132,047 (GRCm39) K7N probably damaging Het
Gulo A G 14: 66,234,325 (GRCm39) F246L probably benign Het
Inpp4b A T 8: 82,723,968 (GRCm39) D500V probably benign Het
Ints4 C T 7: 97,175,849 (GRCm39) L647F probably benign Het
Kif17 T A 4: 138,013,876 (GRCm39) L264Q possibly damaging Het
Kif21a T C 15: 90,843,948 (GRCm39) N1104S possibly damaging Het
Ly6e T G 15: 74,830,546 (GRCm39) L132R probably benign Het
Mis18bp1 T A 12: 65,185,452 (GRCm39) H905L probably damaging Het
Nr2f2 A G 7: 70,004,446 (GRCm39) S269P probably damaging Het
Or2b2b C A 13: 21,858,787 (GRCm39) C109F probably benign Het
Or2o1 G A 11: 49,051,354 (GRCm39) C171Y probably damaging Het
Or5d46 T A 2: 88,170,771 (GRCm39) N287K probably damaging Het
Pde8b T C 13: 95,166,910 (GRCm39) I757V probably damaging Het
Psg23 A T 7: 18,346,122 (GRCm39) I191N possibly damaging Het
Slc12a4 A T 8: 106,672,475 (GRCm39) probably null Het
Snph A T 2: 151,436,093 (GRCm39) Y209* probably null Het
Tnfaip3 T C 10: 18,882,649 (GRCm39) H256R probably damaging Het
Tnip3 T A 6: 65,573,107 (GRCm39) probably benign Het
Ttc3 T A 16: 94,243,386 (GRCm39) F1130Y probably damaging Het
Twnk T G 19: 44,998,627 (GRCm39) V515G probably damaging Het
Usp24 T A 4: 106,280,658 (GRCm39) I2324K probably benign Het
Vwa7 T C 17: 35,238,827 (GRCm39) F305S probably damaging Het
Ythdc2 A T 18: 44,983,735 (GRCm39) Q567L probably damaging Het
Zbtb11 T A 16: 55,818,523 (GRCm39) I649K probably damaging Het
Zbtb49 T C 5: 38,358,204 (GRCm39) Y683C probably damaging Het
Zfhx4 A T 3: 5,309,152 (GRCm39) M793L possibly damaging Het
Zmym6 T G 4: 127,002,437 (GRCm39) I556R probably damaging Het
Zswim8 C T 14: 20,764,780 (GRCm39) P717S probably benign Het
Other mutations in Apip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Apip APN 2 102,922,257 (GRCm39) missense probably benign 0.02
IGL01631:Apip APN 2 102,904,194 (GRCm39) unclassified probably benign
IGL02734:Apip APN 2 102,919,889 (GRCm39) splice site probably benign
BB006:Apip UTSW 2 102,913,366 (GRCm39) missense probably benign 0.00
BB016:Apip UTSW 2 102,913,366 (GRCm39) missense probably benign 0.00
G1patch:Apip UTSW 2 102,922,870 (GRCm39) missense possibly damaging 0.79
R0256:Apip UTSW 2 102,918,916 (GRCm39) missense possibly damaging 0.68
R1518:Apip UTSW 2 102,919,838 (GRCm39) missense probably damaging 1.00
R1829:Apip UTSW 2 102,919,007 (GRCm39) missense probably benign 0.09
R4930:Apip UTSW 2 102,922,226 (GRCm39) nonsense probably null
R6292:Apip UTSW 2 102,922,812 (GRCm39) missense probably benign 0.42
R6300:Apip UTSW 2 102,917,498 (GRCm39) missense possibly damaging 0.92
R6725:Apip UTSW 2 102,922,870 (GRCm39) missense possibly damaging 0.79
R6759:Apip UTSW 2 102,922,191 (GRCm39) missense probably benign 0.02
R6843:Apip UTSW 2 102,922,834 (GRCm39) missense probably benign 0.14
R6968:Apip UTSW 2 102,919,798 (GRCm39) missense possibly damaging 0.94
R7168:Apip UTSW 2 102,922,813 (GRCm39) nonsense probably null
R7494:Apip UTSW 2 102,922,896 (GRCm39) missense probably benign 0.00
R7929:Apip UTSW 2 102,913,366 (GRCm39) missense probably benign 0.00
R8492:Apip UTSW 2 102,922,866 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21