Incidental Mutation 'R4296:Apbb1'
ID 323323
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 041656-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4296 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 105207690-105230860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 105223033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 193 (Q193K)
Ref Sequence ENSEMBL: ENSMUSP00000079932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081165] [ENSMUST00000186868] [ENSMUST00000187051] [ENSMUST00000187683] [ENSMUST00000187721] [ENSMUST00000188001] [ENSMUST00000188440] [ENSMUST00000189378] [ENSMUST00000191011] [ENSMUST00000191601] [ENSMUST00000210079] [ENSMUST00000188726] [ENSMUST00000189072] [ENSMUST00000190369] [ENSMUST00000189265]
AlphaFold Q9QXJ1
Predicted Effect probably benign
Transcript: ENSMUST00000081165
AA Change: Q193K

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000079932
Gene: ENSMUSG00000037032
AA Change: Q193K

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: 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: ENSMUST00000189378
AA Change: Q193K

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000140979
Gene: ENSMUSG00000037032
AA Change: Q193K

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: Q193K

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000140973
Gene: ENSMUSG00000037032
AA Change: Q193K

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: ENSMUST00000191601
AA Change: Q193K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000140116
Gene: ENSMUSG00000037032
AA Change: Q193K

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: ENSMUST00000188726
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: 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: ENSMUST00000189265
SMART Domains Protein: ENSMUSP00000140137
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
Pfam:PID 1 34 2.3e-6 PFAM
PTB 63 192 9.5e-39 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G T 19: 43,811,513 (GRCm39) G993C probably damaging Het
Abcc2 G C 19: 43,811,514 (GRCm39) G993A probably damaging Het
Abi3bp A T 16: 56,488,673 (GRCm39) H810L probably benign Het
Aldh1l2 T C 10: 83,358,641 (GRCm39) D5G probably benign Het
Aldh7a1 A T 18: 56,678,035 (GRCm39) probably null Het
Aox1 T A 1: 58,096,559 (GRCm39) probably null Het
Arl9 C A 5: 77,154,396 (GRCm39) N41K probably damaging Het
Armc1 A G 3: 19,203,680 (GRCm39) M82T probably damaging Het
Bms1 T C 6: 118,381,960 (GRCm39) E526G probably damaging Het
Cacna1a C T 8: 85,285,922 (GRCm39) R809C probably damaging Het
Cd200r1 T C 16: 44,610,033 (GRCm39) I84T probably damaging Het
Cgrrf1 T C 14: 47,069,812 (GRCm39) V27A probably damaging Het
Clec4f G A 6: 83,629,557 (GRCm39) Q334* probably null Het
Cpeb3 C T 19: 37,151,389 (GRCm39) G329D possibly damaging Het
Ctnnbl1 C T 2: 157,661,490 (GRCm39) probably null Het
Dip2b A T 15: 100,079,217 (GRCm39) M810L probably benign Het
Eml3 T C 19: 8,908,773 (GRCm39) S158P probably damaging Het
Eps8l2 G T 7: 140,938,175 (GRCm39) E470* probably null Het
Flt3l A G 7: 44,783,428 (GRCm39) F146S probably damaging Het
Glmn A T 5: 107,706,368 (GRCm39) V419E possibly damaging Het
Gm11360 T A 13: 28,140,295 (GRCm39) I53N probably damaging Het
Gpbp1l1 T A 4: 116,444,656 (GRCm39) V275D possibly damaging Het
Harbi1 T A 2: 91,543,100 (GRCm39) M187K possibly damaging Het
Has3 T C 8: 107,605,054 (GRCm39) V420A possibly damaging Het
Huwe1 C A X: 150,671,444 (GRCm39) T1012K probably benign Het
Iqcg G A 16: 32,837,345 (GRCm39) probably benign Het
Itga4 G A 2: 79,103,143 (GRCm39) G111R probably damaging Het
Keap1 A G 9: 21,145,282 (GRCm39) S243P probably damaging Het
Kmt2a C T 9: 44,732,472 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,584,098 (GRCm39) N286S probably damaging Het
Ltbp3 A T 19: 5,806,610 (GRCm39) probably null Het
Mbtps1 C T 8: 120,249,238 (GRCm39) C684Y possibly damaging Het
Mcm3ap A T 10: 76,343,171 (GRCm39) I1688F probably damaging Het
Midn C T 10: 79,987,553 (GRCm39) T21I probably damaging Het
Naf1 C T 8: 67,342,114 (GRCm39) P580S possibly damaging Het
Nherf4 G A 9: 44,160,158 (GRCm39) R349C probably benign Het
Nlrp3 A T 11: 59,440,487 (GRCm39) E688V possibly damaging Het
Nusap1 A G 2: 119,470,129 (GRCm39) H259R probably damaging Het
Nxpe4 A G 9: 48,310,284 (GRCm39) T516A probably damaging Het
Oas1g T A 5: 121,017,230 (GRCm39) T275S probably damaging Het
Ogdh T G 11: 6,299,374 (GRCm39) F743V probably damaging Het
Or5aq6 T C 2: 86,922,974 (GRCm39) T256A probably benign Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Or6c215 C A 10: 129,638,169 (GRCm39) C75F probably damaging Het
Or6c75 C A 10: 129,337,339 (GRCm39) C195* probably null Het
Or9i1b A G 19: 13,896,717 (GRCm39) E111G probably damaging Het
Peg10 GGAT GGATCCCCATCATGAT 6: 4,756,472 (GRCm39) probably benign Het
Piezo1 T A 8: 123,217,866 (GRCm39) Y819F probably damaging Het
Plekhg2 C A 7: 28,070,591 (GRCm39) G20C probably damaging Het
Polq A G 16: 36,881,663 (GRCm39) T997A possibly damaging Het
Polr3a T A 14: 24,503,264 (GRCm39) Q1190L possibly damaging Het
Ppp1r15a T A 7: 45,173,173 (GRCm39) K800* probably null Het
Prkdc T A 16: 15,555,769 (GRCm39) M2181K probably damaging Het
Pskh1 C A 8: 106,639,536 (GRCm39) A72E probably benign Het
Purg T C 8: 33,877,321 (GRCm39) Y320H probably damaging Het
Rab3gap2 T A 1: 184,988,034 (GRCm39) probably null Het
Rnps1 T A 17: 24,644,089 (GRCm39) probably benign Het
Scgb2b21 A T 7: 33,219,233 (GRCm39) V57E probably benign Het
Sdhaf2 A T 19: 10,502,439 (GRCm39) I7N probably benign Het
Six4 A G 12: 73,150,899 (GRCm39) Y549H probably damaging Het
Slc4a10 G T 2: 62,064,772 (GRCm39) V209F possibly damaging Het
Slc4a11 C A 2: 130,526,927 (GRCm39) V734F probably benign Het
Stk4 T A 2: 163,959,904 (GRCm39) M27K possibly damaging Het
Tecrl A T 5: 83,461,174 (GRCm39) C79* probably null Het
Tgm3 G T 2: 129,880,333 (GRCm39) V380L possibly damaging Het
Tiam2 A T 17: 3,501,120 (GRCm39) M920L probably benign Het
Tjp1 T C 7: 64,968,237 (GRCm39) N729S probably damaging Het
Tlr12 A G 4: 128,511,581 (GRCm39) L223P probably damaging Het
Tmem268 T C 4: 63,484,005 (GRCm39) probably null Het
Tmpo A T 10: 90,998,818 (GRCm39) I323K possibly damaging Het
Tmx4 T C 2: 134,440,549 (GRCm39) S302G probably benign Het
Trip11 C A 12: 101,852,127 (GRCm39) E361* probably null Het
Tspyl3 T A 2: 153,067,076 (GRCm39) N54I possibly damaging Het
Upp2 A T 2: 58,668,021 (GRCm39) Y220F probably damaging Het
Usp22 G T 11: 61,052,290 (GRCm39) probably null Het
Vezt ACTCCTCCT ACTCCT 10: 93,809,793 (GRCm39) probably benign Het
Vmn1r235 G T 17: 21,482,562 (GRCm39) G296W probably damaging Het
Vmn1r89 T C 7: 12,954,113 (GRCm39) V94A possibly damaging Het
Zfp607a A T 7: 27,565,073 (GRCm39) E80V probably damaging 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
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'- ATTGCCACATCTAGCTCCAC -3'
(R):5'- GCATCTATACTCTGAGCTGGAG -3'

Sequencing Primer
(F):5'- TAGCTCCACAAGGTACCTGTG -3'
(R):5'- AACCGAGGGCTTCATGGATC -3'
Posted On 2015-06-20