Incidental Mutation 'R0946:Apbb1'
ID 82103
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 039085-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0946 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 105207690-105230860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105223062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 183 (L183Q)
Ref Sequence ENSEMBL: ENSMUSP00000140973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081165] [ENSMUST00000186868] [ENSMUST00000187051] [ENSMUST00000187683] [ENSMUST00000187721] [ENSMUST00000188001] [ENSMUST00000191601] [ENSMUST00000189378] [ENSMUST00000191011] [ENSMUST00000210079] [ENSMUST00000188440] [ENSMUST00000189265] [ENSMUST00000190369] [ENSMUST00000189072] [ENSMUST00000188726]
AlphaFold Q9QXJ1
Predicted Effect probably benign
Transcript: ENSMUST00000081165
AA Change: L183Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079932
Gene: ENSMUSG00000037032
AA Change: L183Q

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: ENSMUST00000187721
SMART Domains Protein: ENSMUSP00000140192
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
WW 54 85 3.7e-7 SMART
low complexity region 87 99 N/A INTRINSIC
Pfam:PID 170 242 1.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188001
Predicted Effect probably benign
Transcript: ENSMUST00000191601
AA Change: L183Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140116
Gene: ENSMUSG00000037032
AA Change: L183Q

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: ENSMUST00000189378
AA Change: L183Q

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000140979
Gene: ENSMUSG00000037032
AA Change: L183Q

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 benign
Transcript: ENSMUST00000191011
AA Change: L183Q

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000140973
Gene: ENSMUSG00000037032
AA Change: L183Q

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 benign
Transcript: ENSMUST00000210079
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 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
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 benign
Transcript: ENSMUST00000188726
Meta Mutation Damage Score 0.0973 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
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 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230112D13Rik A G 14: 34,234,099 (GRCm39) M64T unknown Het
Adamts15 C T 9: 30,813,493 (GRCm39) G891R probably damaging Het
Adck5 G A 15: 76,477,486 (GRCm39) V107I possibly damaging Het
Aoc3 G A 11: 101,223,131 (GRCm39) V456M possibly damaging Het
Camsap3 A G 8: 3,654,442 (GRCm39) H693R probably benign Het
Ccdc88a A G 11: 29,406,509 (GRCm39) T414A probably benign Het
Cdh17 T C 4: 11,795,581 (GRCm39) V387A probably benign Het
Coasy G T 11: 100,976,696 (GRCm39) V489F probably damaging Het
Ercc6 A T 14: 32,274,578 (GRCm39) M574L probably benign Het
Esrrb T C 12: 86,552,598 (GRCm39) L180P probably damaging Het
Fam83b A T 9: 76,398,679 (GRCm39) V808D probably damaging Het
Fat3 C T 9: 15,909,100 (GRCm39) V2301I possibly damaging Het
Ftdc1 C A 16: 58,435,075 (GRCm39) R83S probably damaging Het
Hyal4 T A 6: 24,755,912 (GRCm39) Y43* probably null Het
Hydin C A 8: 111,257,685 (GRCm39) L2372M probably benign Het
Lrrc4c T C 2: 97,459,809 (GRCm39) V145A probably benign Het
Lypd10 A G 7: 24,413,167 (GRCm39) K162R probably benign Het
Muc21 A C 17: 35,929,105 (GRCm39) S1581A probably benign Het
Myh4 A G 11: 67,142,577 (GRCm39) I913V possibly damaging Het
Nat10 C T 2: 103,561,719 (GRCm39) G654D probably damaging Het
Nbn A T 4: 15,970,719 (GRCm39) probably null Het
Nup50l A T 6: 96,142,677 (GRCm39) N122K possibly damaging Het
Oas3 T C 5: 120,907,128 (GRCm39) Y503C unknown Het
Or11g7 C A 14: 50,691,130 (GRCm39) T207K probably benign Het
Pappa G T 4: 65,233,029 (GRCm39) probably null Het
Pfas A G 11: 68,884,121 (GRCm39) probably null Het
Pfas G T 11: 68,881,573 (GRCm39) probably null Het
Pign A T 1: 105,519,422 (GRCm39) M500K probably benign Het
Pkhd1 T C 1: 20,269,605 (GRCm39) K3313R probably benign Het
Ptk2b A G 14: 66,396,047 (GRCm39) V807A probably benign Het
Ptpdc1 C T 13: 48,740,286 (GRCm39) E382K probably damaging Het
Rfpl4b A T 10: 38,696,833 (GRCm39) I256N probably benign Het
Skap1 C G 11: 96,432,295 (GRCm39) S88* probably null Het
Slc4a2 T C 5: 24,640,884 (GRCm39) S742P probably damaging Het
Supv3l1 T C 10: 62,265,599 (GRCm39) D647G probably damaging Het
Tmem184c A C 8: 78,331,386 (GRCm39) V121G probably damaging Het
Tonsl T C 15: 76,507,421 (GRCm39) I118V probably benign Het
Top1 T A 2: 160,554,588 (GRCm39) Y446* probably null Het
Trim37 A G 11: 87,037,781 (GRCm39) R172G probably damaging Het
Vgll4 C A 6: 114,867,768 (GRCm39) probably null Het
Vgll4 T A 6: 114,867,769 (GRCm39) probably null Het
Vmn1r5 T G 6: 56,963,150 (GRCm39) I275S possibly damaging Het
Vwde A T 6: 13,187,874 (GRCm39) H584Q probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp282 T A 6: 47,856,943 (GRCm39) W59R probably damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zswim2 T A 2: 83,754,103 (GRCm39) T186S 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
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
R4812:Apbb1 UTSW 7 105,223,232 (GRCm39) missense probably damaging 0.99
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'- CCACGGCAGCACACATGATGAATAG -3'
(R):5'- AATGTGACCTTGACCTTGGCGGAG -3'

Sequencing Primer
(F):5'- CCCCTGACTGAGAGAATGTTG -3'
(R):5'- GCATCTATACTCTGAGCTGGAGC -3'
Posted On 2013-11-08