Incidental Mutation 'R4812:Apbb1'
ID 369549
Institutional Source Beutler Lab
Gene Symbol Apbb1
Ensembl Gene ENSMUSG00000037032
Gene Name amyloid beta precursor protein binding family B member 1
Synonyms Fe65, Rir
MMRRC Submission 042431-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4812 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 105207690-105230860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105223232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 126 (N126K)
Ref Sequence ENSEMBL: ENSMUSP00000140822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081165] [ENSMUST00000186868] [ENSMUST00000187051] [ENSMUST00000187683] [ENSMUST00000188440] [ENSMUST00000188726] [ENSMUST00000189072] [ENSMUST00000189378] [ENSMUST00000191011] [ENSMUST00000191601] [ENSMUST00000210079] [ENSMUST00000189265] [ENSMUST00000190369]
AlphaFold Q9QXJ1
Predicted Effect possibly damaging
Transcript: ENSMUST00000081165
AA Change: N126K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079932
Gene: ENSMUSG00000037032
AA Change: N126K

DomainStartEndE-ValueType
low complexity region 146 184 N/A INTRINSIC
WW 254 285 6.23e-5 SMART
low complexity region 287 299 N/A INTRINSIC
PTB 365 512 4.16e-38 SMART
PTB 538 667 1.76e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186868
SMART Domains Protein: ENSMUSP00000140052
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
Pfam:WW 1 24 1.1e-5 PFAM
low complexity region 28 40 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187051
SMART Domains Protein: ENSMUSP00000139755
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
Pfam:WW 1 24 1.4e-5 PFAM
low complexity region 28 40 N/A INTRINSIC
SCOP:d1shca_ 74 120 9e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187683
SMART Domains Protein: ENSMUSP00000139426
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
Pfam:WW 1 24 2.1e-5 PFAM
low complexity region 28 40 N/A INTRINSIC
Pfam:PID 111 158 5.9e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188440
SMART Domains Protein: ENSMUSP00000140715
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
Pfam:WW 1 24 3.4e-5 PFAM
low complexity region 28 40 N/A INTRINSIC
PTB 106 223 1.4e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188726
AA Change: N126K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000189072
SMART Domains Protein: ENSMUSP00000139575
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
Pfam:WW 1 24 8.1e-5 PFAM
low complexity region 28 40 N/A INTRINSIC
PTB 106 253 1.8e-40 SMART
PTB 279 408 9.5e-39 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000189378
AA Change: N126K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140979
Gene: ENSMUSG00000037032
AA Change: N126K

DomainStartEndE-ValueType
low complexity region 146 184 N/A INTRINSIC
WW 254 285 6.23e-5 SMART
low complexity region 287 299 N/A INTRINSIC
PTB 365 510 6.86e-39 SMART
PTB 536 665 1.76e-36 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191011
AA Change: N126K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140973
Gene: ENSMUSG00000037032
AA Change: N126K

DomainStartEndE-ValueType
low complexity region 146 184 N/A INTRINSIC
WW 254 285 6.23e-5 SMART
low complexity region 287 299 N/A INTRINSIC
PTB 365 510 6.86e-39 SMART
PTB 536 665 1.76e-36 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000191601
AA Change: N126K

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140116
Gene: ENSMUSG00000037032
AA Change: N126K

DomainStartEndE-ValueType
low complexity region 146 184 N/A INTRINSIC
WW 254 285 3.7e-7 SMART
low complexity region 287 299 N/A INTRINSIC
PTB 365 512 1.8e-40 SMART
PTB 538 667 9.5e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000210079
Predicted Effect probably benign
Transcript: ENSMUST00000189265
SMART Domains Protein: ENSMUSP00000140137
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
Pfam:PID 1 34 2.3e-6 PFAM
PTB 63 192 9.5e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190369
SMART Domains Protein: ENSMUSP00000140486
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
Pfam:WW 1 24 8.1e-5 PFAM
low complexity region 28 40 N/A INTRINSIC
PTB 106 253 1.8e-40 SMART
PTB 279 408 9.5e-39 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 93% (124/133)
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 Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygotes for a null allele are hypersensitive to ionizing radiation while mouse embryonic fibroblasts are hypersensitive to DNA damaging agents. Homozygotes for a second null allele display impaired performance in learning and memory tasks, with a striking deficit in reversal spatial learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 128 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017G19Rik C T 3: 40,575,633 (GRCm39) noncoding transcript Het
Abca5 T C 11: 110,192,647 (GRCm39) D681G probably damaging Het
Actl11 T C 9: 107,808,329 (GRCm39) V884A probably damaging Het
Akr1c14 G A 13: 4,129,165 (GRCm39) V187M probably damaging Het
Bmt2 G T 6: 13,677,799 (GRCm39) R12S unknown Het
Btrc G A 19: 45,411,603 (GRCm39) C9Y possibly damaging Het
C5ar1 A C 7: 15,982,258 (GRCm39) probably null Het
C8a C T 4: 104,719,788 (GRCm39) probably null Het
Cabin1 A G 10: 75,482,428 (GRCm39) S2172P possibly damaging Het
Calcoco2 T C 11: 95,998,276 (GRCm39) D49G probably damaging Het
Camta1 C T 4: 151,215,999 (GRCm39) D974N probably null Het
Car6 T C 4: 150,281,872 (GRCm39) E47G probably damaging Het
Ccnd3 G A 17: 47,908,505 (GRCm39) probably null Het
Celf5 A T 10: 81,306,573 (GRCm39) V30E probably damaging Het
Cfap251 G A 5: 123,425,368 (GRCm39) V776I probably benign Het
Cfap46 T A 7: 139,215,916 (GRCm39) D1513V probably damaging Het
Cinp T C 12: 110,846,174 (GRCm39) Y84C probably damaging Het
Cnih1 A G 14: 47,014,001 (GRCm39) I154T probably damaging Het
Col15a1 C T 4: 47,262,479 (GRCm39) P511L possibly damaging Het
Col4a4 C T 1: 82,439,874 (GRCm39) V1364M unknown Het
Cplane1 T G 15: 8,230,607 (GRCm39) probably null Het
Crtam A G 9: 40,895,621 (GRCm39) L38P probably damaging Het
Ctnna1 T A 18: 35,372,530 (GRCm39) V495D probably damaging Het
Cubn T C 2: 13,463,887 (GRCm39) Y606C probably damaging Het
Cyp4f16 C T 17: 32,765,652 (GRCm39) A345V probably null Het
Dctn1 A T 6: 83,166,919 (GRCm39) M160L probably benign Het
Dip2c T A 13: 9,687,166 (GRCm39) C366* probably null Het
Dnajc2 G A 5: 21,968,484 (GRCm39) S401L probably benign Het
Dnmt3l A G 10: 77,893,128 (GRCm39) I302V probably benign Het
Dvl2 T C 11: 69,902,119 (GRCm39) probably benign Het
Edn1 T G 13: 42,457,116 (GRCm39) S50A probably benign Het
Efhc1 A T 1: 21,060,871 (GRCm39) R636W probably damaging Het
Epg5 T A 18: 78,022,399 (GRCm39) H1047Q probably benign Het
Etv1 T G 12: 38,911,287 (GRCm39) V371G probably damaging Het
Fap T A 2: 62,349,365 (GRCm39) I475F probably damaging Het
Fbxw15 T C 9: 109,388,990 (GRCm39) I140V probably benign Het
Fer A G 17: 64,241,292 (GRCm39) T311A probably benign Het
Fh1 A G 1: 175,429,025 (GRCm39) W497R probably damaging Het
Flot2 T A 11: 77,944,191 (GRCm39) L45Q probably damaging Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fmnl1 T C 11: 103,089,390 (GRCm39) probably benign Het
Garin5b G A 7: 4,762,071 (GRCm39) T295M probably damaging Het
Ggta1 C T 2: 35,292,735 (GRCm39) V203I probably benign Het
Gm19345 C T 7: 19,591,798 (GRCm39) V204M probably damaging Het
Gm4204 T A 1: 135,160,227 (GRCm39) noncoding transcript Het
Gm6124 C G 7: 38,872,319 (GRCm39) noncoding transcript Het
Gprin3 T A 6: 59,330,350 (GRCm39) K652N possibly damaging Het
Gucy1b2 T C 14: 62,653,346 (GRCm39) probably null Het
Hace1 C A 10: 45,562,699 (GRCm39) A738E probably benign Het
Hectd1 C T 12: 51,874,134 (GRCm39) probably null Het
Hnrnpdl T C 5: 100,184,331 (GRCm39) probably benign Het
Hyou1 T C 9: 44,298,418 (GRCm39) probably benign Het
Ifi44l G A 3: 151,465,336 (GRCm39) A138V probably benign Het
Igkv16-104 A T 6: 68,402,829 (GRCm39) I41F possibly damaging Het
Ints7 T A 1: 191,326,542 (GRCm39) D171E possibly damaging Het
Irag2 G A 6: 145,093,737 (GRCm39) G120S probably damaging Het
Kmt2a A T 9: 44,742,651 (GRCm39) probably benign Het
Kmt2e T C 5: 23,707,585 (GRCm39) V1716A possibly damaging Het
Krtap5-1 G A 7: 141,850,628 (GRCm39) S60F unknown Het
Lama4 G A 10: 38,948,765 (GRCm39) V843I probably benign Het
Laptm5 A G 4: 130,640,749 (GRCm39) probably null Het
Lbhd1 G A 19: 8,866,538 (GRCm39) A193T probably damaging Het
Lce3f C T 3: 92,900,247 (GRCm39) P23S unknown Het
Mecom A C 3: 30,194,517 (GRCm39) M1R probably null Het
Mindy4 A C 6: 55,256,088 (GRCm39) T531P possibly damaging Het
Mrpl3 A G 9: 104,951,023 (GRCm39) N263S probably damaging Het
Myo18b T C 5: 112,957,584 (GRCm39) K1460E possibly damaging Het
Myof A G 19: 37,905,007 (GRCm39) Y852H probably damaging Het
Nefl T G 14: 68,321,734 (GRCm39) V108G probably damaging Het
Nid1 T A 13: 13,681,053 (GRCm39) L1061* probably null Het
Nim1k T A 13: 120,173,920 (GRCm39) M325L probably benign Het
Nlrp1c-ps T C 11: 71,143,131 (GRCm39) noncoding transcript Het
Npsr1 C T 9: 24,201,252 (GRCm39) T59I probably damaging Het
Nr2c1 A G 10: 94,024,114 (GRCm39) T440A probably benign Het
Nup160 C T 2: 90,556,035 (GRCm39) T1245I probably damaging Het
Nup88 T A 11: 70,856,552 (GRCm39) T194S probably damaging Het
Oas3 A G 5: 120,899,212 (GRCm39) probably benign Het
Odad2 T G 18: 7,288,634 (GRCm39) T78P possibly damaging Het
Opn1sw A T 6: 29,378,038 (GRCm39) M252K probably damaging Het
Oprm1 T G 10: 6,782,698 (GRCm39) probably benign Het
Or10ag59 A G 2: 87,406,087 (GRCm39) I220V probably benign Het
Or2y1g T A 11: 49,171,284 (GRCm39) I103K possibly damaging Het
Or4x13 T A 2: 90,231,440 (GRCm39) M145K probably benign Het
Pcdha2 T A 18: 37,072,861 (GRCm39) V164E probably benign Het
Pclo A G 5: 14,590,039 (GRCm39) T780A unknown Het
Pcnx2 T A 8: 126,592,678 (GRCm39) Q762L probably benign Het
Pcyt2 A T 11: 120,505,251 (GRCm39) probably benign Het
Pdpr A G 8: 111,843,349 (GRCm39) N294D probably benign Het
Perm1 T A 4: 156,303,193 (GRCm39) V579E possibly damaging Het
Pgk2 T A 17: 40,518,281 (GRCm39) K382N possibly damaging Het
Plcb4 T A 2: 135,849,801 (GRCm39) L205Q probably damaging Het
Plekha3 C T 2: 76,516,975 (GRCm39) T109I probably damaging Het
Pnn T A 12: 59,118,404 (GRCm39) V329E possibly damaging Het
Ptpn13 A G 5: 103,671,481 (GRCm39) I469M probably benign Het
Rapgef3 A G 15: 97,651,684 (GRCm39) V603A probably benign Het
Rbms1 C T 2: 60,623,113 (GRCm39) V75I possibly damaging Het
Rbp3 T A 14: 33,676,731 (GRCm39) D226E probably damaging Het
Robo2 A T 16: 73,713,176 (GRCm39) N1189K probably benign Het
Rragd A G 4: 33,018,766 (GRCm39) T270A probably benign Het
Rxfp1 T A 3: 79,557,889 (GRCm39) T530S probably benign Het
Ryr3 T C 2: 112,742,581 (GRCm39) E479G probably damaging Het
Scd2 A T 19: 44,289,841 (GRCm39) I279F probably damaging Het
Sh3d19 A T 3: 86,031,074 (GRCm39) D746V probably damaging Het
Shroom4 A G X: 6,536,180 (GRCm39) K1133E probably benign Het
Sirpb1c A G 3: 15,887,386 (GRCm39) V151A probably damaging Het
Slc26a2 A T 18: 61,335,093 (GRCm39) I120N probably damaging Het
Slco1a1 A G 6: 141,864,319 (GRCm39) S494P probably damaging Het
Srebf2 A T 15: 82,088,026 (GRCm39) T1061S probably damaging Het
Sspo T C 6: 48,467,444 (GRCm39) L4202P probably benign Het
Synj2 G A 17: 6,060,939 (GRCm39) G215E probably damaging Het
Tbc1d19 T C 5: 53,967,148 (GRCm39) V16A probably damaging Het
Tektl1 T C 10: 78,585,050 (GRCm39) H262R probably benign Het
Tiparp T C 3: 65,460,190 (GRCm39) I495T possibly damaging Het
Tipin A G 9: 64,211,694 (GRCm39) H260R probably benign Het
Tle1 A G 4: 72,063,591 (GRCm39) S221P probably damaging Het
Tmem94 T A 11: 115,686,938 (GRCm39) L1101* probably null Het
Trim43b C T 9: 88,973,533 (GRCm39) D67N probably benign Het
Ubn2 T A 6: 38,440,661 (GRCm39) C178S probably benign Het
Vmn1r54 T C 6: 90,246,307 (GRCm39) F74L probably benign Het
Vmn2r24 A G 6: 123,756,144 (GRCm39) H72R probably benign Het
Wnk1 C T 6: 119,929,732 (GRCm39) V850I probably benign Het
Zan T G 5: 137,454,547 (GRCm39) Y1419S unknown Het
Zbtb14 T A 17: 69,694,577 (GRCm39) Y92N probably damaging Het
Zfand5 A G 19: 21,255,101 (GRCm39) K116E probably benign Het
Zfhx3 A G 8: 109,674,593 (GRCm39) E1881G possibly damaging Het
Zfp280b A G 10: 75,874,924 (GRCm39) K268E probably benign Het
Zfp541 A G 7: 15,813,035 (GRCm39) I563V probably benign Het
Zfy2 T A Y: 2,106,334 (GRCm39) I767L probably benign Het
Other mutations in Apbb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02171:Apbb1 APN 7 105,208,333 (GRCm39) splice site probably benign
athena UTSW 7 105,215,902 (GRCm39) missense probably benign
R0092:Apbb1 UTSW 7 105,208,361 (GRCm39) missense probably damaging 1.00
R0348:Apbb1 UTSW 7 105,214,510 (GRCm39) missense probably damaging 0.98
R0633:Apbb1 UTSW 7 105,208,170 (GRCm39) missense probably damaging 1.00
R0946:Apbb1 UTSW 7 105,223,062 (GRCm39) missense probably benign 0.09
R1076:Apbb1 UTSW 7 105,223,062 (GRCm39) missense probably benign 0.09
R1332:Apbb1 UTSW 7 105,214,750 (GRCm39) missense possibly damaging 0.74
R1658:Apbb1 UTSW 7 105,223,291 (GRCm39) missense probably damaging 1.00
R1739:Apbb1 UTSW 7 105,223,434 (GRCm39) missense probably benign
R4230:Apbb1 UTSW 7 105,216,891 (GRCm39) missense probably damaging 1.00
R4296:Apbb1 UTSW 7 105,223,033 (GRCm39) missense probably benign 0.16
R4385:Apbb1 UTSW 7 105,216,483 (GRCm39) missense probably benign 0.00
R4571:Apbb1 UTSW 7 105,222,969 (GRCm39) missense probably damaging 1.00
R4647:Apbb1 UTSW 7 105,214,745 (GRCm39) missense probably benign 0.01
R5044:Apbb1 UTSW 7 105,214,889 (GRCm39) intron probably benign
R5109:Apbb1 UTSW 7 105,214,242 (GRCm39) missense probably damaging 1.00
R5479:Apbb1 UTSW 7 105,214,232 (GRCm39) missense probably damaging 0.97
R5611:Apbb1 UTSW 7 105,208,690 (GRCm39) missense probably damaging 1.00
R5677:Apbb1 UTSW 7 105,208,453 (GRCm39) missense probably damaging 1.00
R5785:Apbb1 UTSW 7 105,216,922 (GRCm39) missense probably damaging 1.00
R5850:Apbb1 UTSW 7 105,216,790 (GRCm39) missense probably damaging 1.00
R5896:Apbb1 UTSW 7 105,223,432 (GRCm39) missense probably damaging 1.00
R6151:Apbb1 UTSW 7 105,223,459 (GRCm39) nonsense probably null
R6186:Apbb1 UTSW 7 105,216,933 (GRCm39) missense probably damaging 1.00
R6229:Apbb1 UTSW 7 105,222,938 (GRCm39) missense probably damaging 0.98
R6229:Apbb1 UTSW 7 105,222,937 (GRCm39) missense probably damaging 0.98
R6288:Apbb1 UTSW 7 105,208,434 (GRCm39) missense probably damaging 1.00
R6295:Apbb1 UTSW 7 105,215,902 (GRCm39) missense probably benign
R6443:Apbb1 UTSW 7 105,222,970 (GRCm39) missense probably damaging 1.00
R6729:Apbb1 UTSW 7 105,214,588 (GRCm39) missense probably damaging 1.00
R7130:Apbb1 UTSW 7 105,214,538 (GRCm39) missense probably damaging 0.98
R7209:Apbb1 UTSW 7 105,215,292 (GRCm39) missense probably damaging 1.00
R7467:Apbb1 UTSW 7 105,215,339 (GRCm39) missense probably benign 0.04
R7489:Apbb1 UTSW 7 105,216,687 (GRCm39) missense probably benign 0.30
R7588:Apbb1 UTSW 7 105,223,173 (GRCm39) missense probably benign 0.29
R7754:Apbb1 UTSW 7 105,208,509 (GRCm39) missense probably damaging 0.97
R7768:Apbb1 UTSW 7 105,216,295 (GRCm39) missense probably benign
R7785:Apbb1 UTSW 7 105,216,630 (GRCm39) missense probably benign 0.00
R7804:Apbb1 UTSW 7 105,215,807 (GRCm39) missense probably damaging 1.00
R7809:Apbb1 UTSW 7 105,223,014 (GRCm39) missense probably benign 0.04
R7995:Apbb1 UTSW 7 105,214,852 (GRCm39) missense probably benign 0.09
R9206:Apbb1 UTSW 7 105,208,727 (GRCm39) missense probably damaging 0.97
R9208:Apbb1 UTSW 7 105,208,727 (GRCm39) missense probably damaging 0.97
R9225:Apbb1 UTSW 7 105,218,063 (GRCm39) missense
Z1088:Apbb1 UTSW 7 105,208,343 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTCCAGAGGCTCAGGTAG -3'
(R):5'- CTTCGAAGTGCTATGGGAGAGG -3'

Sequencing Primer
(F):5'- GCCCTGGAGGAGAAGACAAGTC -3'
(R):5'- CCTGCCAATGCCAAGTGGTTAAAG -3'
Posted On 2016-02-04