Incidental Mutation 'IGL02048:Apba1'
ID185011
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apba1
Ensembl Gene ENSMUSG00000024897
Gene Nameamyloid beta (A4) precursor protein binding, family A, member 1
Synonyms6430513E09Rik, Lin-10, X11, Mint, Mint1, X11alpha
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02048
Quality Score
Status
Chromosome19
Chromosomal Location23758876-23949597 bp(+) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) A to G at 23937636 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025830]
Predicted Effect probably null
Transcript: ENSMUST00000025830
SMART Domains Protein: ENSMUSP00000025830
Gene: ENSMUSG00000024897

DomainStartEndE-ValueType
low complexity region 40 47 N/A INTRINSIC
low complexity region 59 74 N/A INTRINSIC
low complexity region 129 149 N/A INTRINSIC
low complexity region 404 421 N/A INTRINSIC
PTB 461 626 9.49e-33 SMART
PDZ 670 748 3.09e-15 SMART
PDZ 762 828 2.53e-11 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Animals carrying a homozygous mutation of this gene have reduced body size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,069,831 D1288N probably damaging Het
Abcc1 T C 16: 14,411,519 F372L probably damaging Het
Adcy2 G T 13: 68,888,067 N158K possibly damaging Het
Arap3 T C 18: 37,996,979 E43G possibly damaging Het
Bet1 A T 6: 4,082,456 probably null Het
Blm A G 7: 80,502,961 probably benign Het
Brinp1 T C 4: 68,763,142 I384V probably benign Het
Cyp3a13 T C 5: 137,918,995 probably benign Het
Dlg5 A T 14: 24,172,203 I480N possibly damaging Het
Exoc3l4 A G 12: 111,428,483 K538R probably benign Het
Flna G T X: 74,228,500 T2008K probably benign Het
Hc T A 2: 34,996,027 Q1388L probably benign Het
Ifitm1 T C 7: 140,968,292 S13P probably benign Het
Il1rapl2 A G X: 138,789,649 I288V probably benign Het
Il31 C T 5: 123,480,490 V157M possibly damaging Het
N4bp2l1 A G 5: 150,576,638 probably null Het
Nell1 T C 7: 50,219,607 I210T probably damaging Het
Olfr549 T C 7: 102,554,883 Y200H probably damaging Het
Olfr872 T A 9: 20,260,488 I216N possibly damaging Het
Phf1 A G 17: 26,934,541 probably benign Het
Phf10 G A 17: 14,945,149 P482S probably benign Het
Ppp6r3 T G 19: 3,473,848 M522L possibly damaging Het
Qtrt1 T C 9: 21,417,355 L205P probably damaging Het
Vmn2r11 T C 5: 109,054,792 I140V probably benign Het
Xylt2 C T 11: 94,666,345 E107K possibly damaging Het
Zfp512b A T 2: 181,589,922 F155Y possibly damaging Het
Zfyve27 A G 19: 42,185,857 D314G probably damaging Het
Other mutations in Apba1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Apba1 APN 19 23917586 missense possibly damaging 0.95
IGL01991:Apba1 APN 19 23937472 missense possibly damaging 0.80
IGL02522:Apba1 APN 19 23912445 splice site probably benign
IGL02728:Apba1 APN 19 23944905 missense possibly damaging 0.93
IGL02942:Apba1 APN 19 23944971 missense possibly damaging 0.78
IGL03349:Apba1 APN 19 23917575 missense probably benign 0.02
IGL03410:Apba1 APN 19 23937581 missense possibly damaging 0.67
R0052:Apba1 UTSW 19 23915951 missense possibly damaging 0.90
R0052:Apba1 UTSW 19 23915951 missense possibly damaging 0.90
R0084:Apba1 UTSW 19 23912497 missense possibly damaging 0.68
R0379:Apba1 UTSW 19 23934830 missense probably damaging 1.00
R0423:Apba1 UTSW 19 23944998 missense probably damaging 1.00
R1132:Apba1 UTSW 19 23917553 missense possibly damaging 0.83
R1291:Apba1 UTSW 19 23917672 missense probably damaging 0.97
R1681:Apba1 UTSW 19 23936561 missense probably damaging 1.00
R1714:Apba1 UTSW 19 23944952 missense possibly damaging 0.67
R1756:Apba1 UTSW 19 23893692 missense possibly damaging 0.83
R1866:Apba1 UTSW 19 23892831 missense probably benign 0.22
R2076:Apba1 UTSW 19 23893223 nonsense probably null
R2217:Apba1 UTSW 19 23893962 missense probably damaging 0.99
R3907:Apba1 UTSW 19 23937506 missense probably damaging 0.96
R4095:Apba1 UTSW 19 23944024 missense probably benign 0.00
R4529:Apba1 UTSW 19 23936535 missense probably damaging 1.00
R4557:Apba1 UTSW 19 23917592 missense probably damaging 1.00
R4972:Apba1 UTSW 19 23912536 missense probably benign 0.24
R5521:Apba1 UTSW 19 23893593 missense probably damaging 1.00
R6539:Apba1 UTSW 19 23936560 missense probably damaging 1.00
R7032:Apba1 UTSW 19 23912461 missense probably benign 0.20
R7035:Apba1 UTSW 19 23917567 missense possibly damaging 0.88
Posted On2014-05-07