Incidental Mutation 'IGL01475:Apba1'
ID88424
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 #IGL01475
Quality Score
Status
Chromosome19
Chromosomal Location23758876-23949597 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 23917586 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 462 (D462V)
Ref Sequence ENSEMBL: ENSMUSP00000025830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025830]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025830
AA Change: D462V

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025830
Gene: ENSMUSG00000024897
AA Change: D462V

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik A T 14: 59,142,803 N15K possibly damaging Het
4833427G06Rik A G 9: 51,100,058 I93T probably benign Het
Adam32 A T 8: 24,872,648 I587K probably damaging Het
Adamtsl4 T C 3: 95,677,533 S942G probably benign Het
Adamtsl5 A G 10: 80,344,916 F104S probably damaging Het
Adgrf5 A G 17: 43,450,354 D980G probably benign Het
Arhgef11 T C 3: 87,727,126 probably benign Het
Cd74 T C 18: 60,810,321 probably benign Het
Cdc16 T C 8: 13,781,542 S592P probably benign Het
Cenpj A G 14: 56,565,045 M21T possibly damaging Het
Col28a1 A G 6: 8,103,521 L425S probably damaging Het
Dbt C T 3: 116,520,259 T25I possibly damaging Het
Dguok C A 6: 83,490,570 M98I possibly damaging Het
Dmxl1 T C 18: 49,871,714 L943P probably damaging Het
Eloa G A 4: 136,010,920 S243L probably benign Het
Enkur C A 2: 21,196,719 A52S probably damaging Het
Ezh1 T C 11: 101,192,961 E744G probably damaging Het
Fbxw11 T C 11: 32,722,101 S190P possibly damaging Het
Foxb1 G A 9: 69,759,268 probably benign Het
Gabra5 C T 7: 57,408,684 G439S probably damaging Het
Gtf2h2 A T 13: 100,481,033 V207D probably damaging Het
Krt76 A G 15: 101,888,513 V317A probably benign Het
Lair1 C A 7: 4,009,684 probably benign Het
Lrit2 T A 14: 37,069,094 H243Q probably damaging Het
Mast3 C T 8: 70,779,530 A1268T probably damaging Het
Matn2 G A 15: 34,316,525 M4I possibly damaging Het
Mob1b T A 5: 88,749,643 F137I probably damaging Het
Mreg T C 1: 72,164,166 probably benign Het
Nom1 T C 5: 29,446,274 V684A possibly damaging Het
Pate2 T A 9: 35,669,702 L1Q probably null Het
Pla2r1 T C 2: 60,441,081 probably benign Het
Plxna1 A G 6: 89,354,888 F447L possibly damaging Het
Pno1 A T 11: 17,210,992 I114N probably damaging Het
Ppp1r7 T G 1: 93,360,818 probably benign Het
Pprc1 T A 19: 46,071,529 Y1503N probably benign Het
Rab30 T C 7: 92,835,722 V132A probably damaging Het
Slc15a4 T C 5: 127,601,960 T439A probably benign Het
Slc29a3 A G 10: 60,723,817 V186A possibly damaging Het
Stxbp5l G A 16: 37,345,092 T88I possibly damaging Het
Tarbp1 A G 8: 126,433,962 V1250A probably benign Het
Tcte2 A T 17: 13,717,562 probably benign Het
Trp53bp1 A T 2: 121,270,319 probably null Het
Trpc4 A T 3: 54,266,407 L407F possibly damaging Het
Vmn1r6 T C 6: 57,002,911 F164S probably damaging Het
Zfp579 C A 7: 4,994,744 R56L probably benign Het
Other mutations in Apba1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01991:Apba1 APN 19 23937472 missense possibly damaging 0.80
IGL02048:Apba1 APN 19 23937636 splice site probably null
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 On2013-11-18