Incidental Mutation 'IGL00329:Apba3'
ID 332269
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apba3
Ensembl Gene ENSMUSG00000004931
Gene Name amyloid beta precursor protein binding family A member 3
Synonyms Mint 3, Mint-3, X11gamma, lin-10, neuron-specific X11L2 protein, neuronal munc18-1-interacting protein 3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.453) question?
Stock # IGL00329
Quality Score
Status
Chromosome 10
Chromosomal Location 81102799-81109081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81108901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 555 (P555S)
Ref Sequence ENSEMBL: ENSMUSP00000151985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045744] [ENSMUST00000057798] [ENSMUST00000220297] [ENSMUST00000219479] [ENSMUST00000219460] [ENSMUST00000218742] [ENSMUST00000219304]
AlphaFold O88888
Predicted Effect probably benign
Transcript: ENSMUST00000045744
SMART Domains Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917

DomainStartEndE-ValueType
PDZ 20 93 2.81e-18 SMART
low complexity region 119 162 N/A INTRINSIC
PDZ 196 264 2.71e-11 SMART
low complexity region 297 305 N/A INTRINSIC
PDZ 378 451 4.97e-19 SMART
SH3 466 539 9.96e-2 SMART
low complexity region 548 559 N/A INTRINSIC
GuKc 570 756 6.9e-46 SMART
Blast:GuKc 767 898 9e-27 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000057798
AA Change: P555S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050995
Gene: ENSMUSG00000004931
AA Change: P555S

DomainStartEndE-ValueType
low complexity region 5 14 N/A INTRINSIC
low complexity region 98 120 N/A INTRINSIC
low complexity region 155 171 N/A INTRINSIC
PTB 213 359 3.03e-40 SMART
PDZ 400 478 3.74e-14 SMART
PDZ 492 557 9.58e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175040
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218146
Predicted Effect probably damaging
Transcript: ENSMUST00000220297
AA Change: P555S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect silent
Transcript: ENSMUST00000218297
Predicted Effect probably benign
Transcript: ENSMUST00000219479
Predicted Effect probably benign
Transcript: ENSMUST00000219460
Predicted Effect probably benign
Transcript: ENSMUST00000218742
Predicted Effect probably benign
Transcript: ENSMUST00000219304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219919
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 an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Deletion in mutants causes abnormalities in colon morphology and physiology, increased circulating blood urea nitrogen, and decreased serum chloride, sodium and potassium levels. Surviving homozygotes display diarrhea, postnatal viability and decreased life span. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A G 3: 36,123,911 (GRCm39) N72S probably benign Het
Aopep T A 13: 63,338,977 (GRCm39) I623N probably damaging Het
Arcn1 C A 9: 44,670,333 (GRCm39) E98* probably null Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Col28a1 G T 6: 8,175,425 (GRCm39) T141K probably damaging Het
Dna2 T C 10: 62,802,222 (GRCm39) F811S probably damaging Het
Dusp19 T A 2: 80,461,269 (GRCm39) I186K probably damaging Het
Dync2li1 A G 17: 84,952,154 (GRCm39) D195G possibly damaging Het
Epm2aip1 T C 9: 111,101,855 (GRCm39) V276A possibly damaging Het
Extl3 T C 14: 65,313,070 (GRCm39) E704G probably benign Het
Gle1 T C 2: 29,829,301 (GRCm39) probably benign Het
Gm2178 C A 14: 26,235,767 (GRCm39) probably benign Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Herc2 T A 7: 55,774,047 (GRCm39) L1166Q probably damaging Het
Hsd11b2 A G 8: 106,249,759 (GRCm39) E290G probably benign Het
Inpp5d T C 1: 87,595,725 (GRCm39) V157A probably benign Het
Krt72 T A 15: 101,693,434 (GRCm39) Q160L probably damaging Het
Lrrd1 A G 5: 3,900,081 (GRCm39) K129E possibly damaging Het
Mapk13 A G 17: 28,995,379 (GRCm39) Y200C probably damaging Het
Mme G A 3: 63,287,749 (GRCm39) W750* probably null Het
Nat8l C T 5: 34,155,761 (GRCm39) P139L probably damaging Het
Nrtn C A 17: 57,058,569 (GRCm39) R144L probably benign Het
Or52h9 C A 7: 104,202,299 (GRCm39) P58T probably benign Het
Pate12 G A 9: 36,344,198 (GRCm39) probably benign Het
Pdgfa T A 5: 138,974,216 (GRCm39) probably benign Het
Rtp3 A G 9: 110,815,666 (GRCm39) V233A probably benign Het
Syne2 A G 12: 76,078,474 (GRCm39) probably benign Het
Trappc10 A T 10: 78,039,711 (GRCm39) probably benign Het
Usp24 A G 4: 106,216,288 (GRCm39) T380A probably benign Het
Vmn1r21 A T 6: 57,821,049 (GRCm39) S132T probably benign Het
Other mutations in Apba3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Apba3 APN 10 81,108,901 (GRCm39) missense probably damaging 1.00
IGL01577:Apba3 APN 10 81,108,053 (GRCm39) missense probably damaging 1.00
IGL01924:Apba3 APN 10 81,108,907 (GRCm39) missense probably benign 0.01
IGL02655:Apba3 APN 10 81,108,788 (GRCm39) missense probably benign 0.20
IGL03163:Apba3 APN 10 81,105,057 (GRCm39) splice site probably null
R1381:Apba3 UTSW 10 81,107,590 (GRCm39) missense possibly damaging 0.76
R2073:Apba3 UTSW 10 81,105,128 (GRCm39) missense probably benign
R2114:Apba3 UTSW 10 81,108,946 (GRCm39) missense probably damaging 1.00
R2196:Apba3 UTSW 10 81,107,542 (GRCm39) missense probably damaging 1.00
R3773:Apba3 UTSW 10 81,108,443 (GRCm39) splice site probably null
R4895:Apba3 UTSW 10 81,107,117 (GRCm39) critical splice donor site probably null
R4936:Apba3 UTSW 10 81,105,204 (GRCm39) splice site probably null
R6576:Apba3 UTSW 10 81,108,925 (GRCm39) missense probably benign 0.04
R7141:Apba3 UTSW 10 81,108,889 (GRCm39) missense probably damaging 1.00
R7305:Apba3 UTSW 10 81,107,067 (GRCm39) missense probably damaging 1.00
R7498:Apba3 UTSW 10 81,104,735 (GRCm39) missense possibly damaging 0.55
R7599:Apba3 UTSW 10 81,108,180 (GRCm39) missense probably damaging 0.99
R8399:Apba3 UTSW 10 81,104,832 (GRCm39) missense probably benign 0.21
R8791:Apba3 UTSW 10 81,105,104 (GRCm39) missense probably benign 0.00
R8974:Apba3 UTSW 10 81,109,032 (GRCm39) missense
R9159:Apba3 UTSW 10 81,106,867 (GRCm39) missense
X0020:Apba3 UTSW 10 81,106,883 (GRCm39) missense probably damaging 1.00
Posted On 2015-08-05