Incidental Mutation 'IGL01924:Apba3'
ID 180187
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apba3
Ensembl Gene ENSMUSG00000004931
Gene Name amyloid beta (A4) precursor protein-binding, family A, member 3
Synonyms X11gamma, neuronal munc18-1-interacting protein 3, Mint 3, neuron-specific X11L2 protein, Mint-3, lin-10
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.420) question?
Stock # IGL01924
Quality Score
Chromosome 10
Chromosomal Location 81266960-81273246 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 81273073 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 557 (A557S)
Ref Sequence ENSEMBL: ENSMUSP00000151985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045744] [ENSMUST00000057798] [ENSMUST00000218742] [ENSMUST00000219304] [ENSMUST00000219460] [ENSMUST00000219479] [ENSMUST00000220297]
AlphaFold O88888
Predicted Effect probably benign
Transcript: ENSMUST00000045744
SMART Domains Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917

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 benign
Transcript: ENSMUST00000057798
AA Change: A557S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000050995
Gene: ENSMUSG00000004931
AA Change: A557S

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 silent
Transcript: ENSMUST00000218297
Predicted Effect probably benign
Transcript: ENSMUST00000218742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219294
Predicted Effect probably benign
Transcript: ENSMUST00000219304
Predicted Effect probably benign
Transcript: ENSMUST00000219460
Predicted Effect probably benign
Transcript: ENSMUST00000219479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219919
Predicted Effect probably benign
Transcript: ENSMUST00000220297
AA Change: A557S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,223,986 probably benign Het
Adamts13 A G 2: 26,996,583 E938G possibly damaging Het
Aox2 C T 1: 58,287,743 T167I possibly damaging Het
Atad2b T C 12: 5,034,093 L1382P probably damaging Het
Atrn C T 2: 130,935,565 T178I probably damaging Het
B4galnt1 A G 10: 127,166,761 S88G probably benign Het
Baz2b T C 2: 59,935,271 K887E probably damaging Het
Ccdc162 A C 10: 41,569,887 F430V probably damaging Het
Cdc42bpb T A 12: 111,317,453 probably benign Het
Chit1 A G 1: 134,149,410 D317G probably benign Het
Chrnb1 A T 11: 69,795,019 probably benign Het
Cobl G T 11: 12,254,596 T620K probably benign Het
Creld1 T C 6: 113,483,960 F20L probably benign Het
Csmd2 A T 4: 128,559,947 D3475V unknown Het
Cyp3a57 A G 5: 145,372,629 D259G probably benign Het
Dbnl A G 11: 5,797,142 Y224C probably damaging Het
Det1 A T 7: 78,843,823 C144* probably null Het
Fbxo47 G T 11: 97,856,160 A360D probably damaging Het
Frrs1 G A 3: 116,885,239 G237R probably damaging Het
Gatsl2 T C 5: 134,135,602 F134S probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm4788 G A 1: 139,739,206 L444F probably damaging Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gria2 T C 3: 80,710,331 T372A probably benign Het
Hmcn2 A T 2: 31,398,917 Q2246L probably benign Het
Ide T C 19: 37,272,164 M930V unknown Het
Kdm5a T C 6: 120,394,255 probably null Het
Khnyn A G 14: 55,894,969 T625A probably benign Het
Lrrtm1 T C 6: 77,244,186 F209L possibly damaging Het
Med13 C A 11: 86,308,696 probably benign Het
Myom2 A G 8: 15,069,685 E147G probably benign Het
Myrip T A 9: 120,388,264 V88D probably damaging Het
Nbeal2 T C 9: 110,631,414 H1784R probably benign Het
Nlrp4e T A 7: 23,320,830 C247* probably null Het
Nup54 G A 5: 92,424,435 P252L probably benign Het
Olfr610 A G 7: 103,506,796 I50T possibly damaging Het
Otoa C A 7: 121,105,968 N244K probably damaging Het
Pbrm1 G A 14: 31,082,604 R960H probably damaging Het
Ptcd3 A T 6: 71,898,427 N190K probably damaging Het
Rhobtb1 T A 10: 69,270,304 L233H probably damaging Het
Sec24c T A 14: 20,689,689 F545I probably damaging Het
Slc6a15 T C 10: 103,404,825 probably null Het
Slitrk1 G A 14: 108,911,239 A680V probably benign Het
Smpd1 C T 7: 105,555,448 S178L probably benign Het
Spindoc A G 19: 7,382,677 L42P probably damaging Het
Tenm4 A G 7: 96,895,212 E2145G probably damaging Het
Tmem144 G T 3: 79,839,194 A18E probably damaging Het
Tmem213 A T 6: 38,109,438 S10C possibly damaging Het
Trav6-3 A T 14: 53,430,343 I102L probably benign Het
Trip11 T G 12: 101,886,884 N483T possibly damaging Het
Unc13b C T 4: 43,239,385 R1056* probably null Het
Wdr27 T G 17: 14,917,226 K433N probably damaging Het
Wls C A 3: 159,901,443 S189* probably null Het
Yeats2 A G 16: 20,206,167 N706D probably damaging Het
Zbp1 A G 2: 173,212,254 V158A probably benign Het
Zfp595 G T 13: 67,317,783 H139N possibly damaging Het
Other mutations in Apba3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Apba3 APN 10 81273067 missense probably damaging 1.00
IGL00332:Apba3 APN 10 81273067 missense probably damaging 1.00
IGL01577:Apba3 APN 10 81272219 missense probably damaging 1.00
IGL02655:Apba3 APN 10 81272954 missense probably benign 0.20
IGL03163:Apba3 APN 10 81269223 splice site probably null
R1381:Apba3 UTSW 10 81271756 missense possibly damaging 0.76
R2073:Apba3 UTSW 10 81269294 missense probably benign
R2114:Apba3 UTSW 10 81273112 missense probably damaging 1.00
R2196:Apba3 UTSW 10 81271708 missense probably damaging 1.00
R3773:Apba3 UTSW 10 81272609 splice site probably null
R4895:Apba3 UTSW 10 81271283 critical splice donor site probably null
R4936:Apba3 UTSW 10 81269370 splice site probably null
R6576:Apba3 UTSW 10 81273091 missense probably benign 0.04
R7141:Apba3 UTSW 10 81273055 missense probably damaging 1.00
R7305:Apba3 UTSW 10 81271233 missense probably damaging 1.00
R7498:Apba3 UTSW 10 81268901 missense possibly damaging 0.55
R7599:Apba3 UTSW 10 81272346 missense probably damaging 0.99
R8399:Apba3 UTSW 10 81268998 missense probably benign 0.21
R8791:Apba3 UTSW 10 81269270 missense probably benign 0.00
R8974:Apba3 UTSW 10 81273198 missense
R9159:Apba3 UTSW 10 81271033 missense
X0020:Apba3 UTSW 10 81271049 missense probably damaging 1.00
Posted On 2014-05-07