Incidental Mutation 'R5044:Apbb1'
ID 394260
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 042634-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5044 (G1)
Quality Score 204
Status Validated
Chromosome 7
Chromosomal Location 105207690-105230860 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 105214889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000081165] [ENSMUST00000186814] [ENSMUST00000186868] [ENSMUST00000187051] [ENSMUST00000187057] [ENSMUST00000187683] [ENSMUST00000187721] [ENSMUST00000210079] [ENSMUST00000188001] [ENSMUST00000191601] [ENSMUST00000189265] [ENSMUST00000191011] [ENSMUST00000188368] [ENSMUST00000188440] [ENSMUST00000189072] [ENSMUST00000189378] [ENSMUST00000190369]
AlphaFold Q9QXJ1
Predicted Effect probably benign
Transcript: ENSMUST00000081165
SMART Domains Protein: ENSMUSP00000079932
Gene: ENSMUSG00000037032

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: ENSMUST00000186814
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: ENSMUST00000187057
SMART Domains Protein: ENSMUSP00000139899
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
WW 31 62 3.7e-7 SMART
low complexity region 64 76 N/A INTRINSIC
PTB 142 287 3.8e-41 SMART
PTB 313 442 9.5e-39 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 noncoding transcript
Transcript: ENSMUST00000190961
Predicted Effect probably benign
Transcript: ENSMUST00000210079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191250
Predicted Effect probably benign
Transcript: ENSMUST00000188001
Predicted Effect probably benign
Transcript: ENSMUST00000211614
Predicted Effect probably benign
Transcript: ENSMUST00000191601
SMART Domains Protein: ENSMUSP00000140116
Gene: ENSMUSG00000037032

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: 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: ENSMUST00000191011
SMART Domains Protein: ENSMUSP00000140973
Gene: ENSMUSG00000037032

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: ENSMUST00000188368
SMART Domains Protein: ENSMUSP00000139788
Gene: ENSMUSG00000037032

DomainStartEndE-ValueType
WW 31 62 3.7e-7 SMART
low complexity region 64 76 N/A INTRINSIC
PTB 142 289 1.8e-40 SMART
PTB 315 444 9.5e-39 SMART
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: 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: ENSMUST00000189378
SMART Domains Protein: ENSMUSP00000140979
Gene: ENSMUSG00000037032

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: 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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 96% (73/76)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,323,323 (GRCm39) F3387I possibly damaging Het
Acacb T A 5: 114,304,088 (GRCm39) S170R probably benign Het
Adamtsl4 A G 3: 95,588,960 (GRCm39) probably null Het
Adgrv1 A G 13: 81,637,050 (GRCm39) C3464R probably benign Het
Cad A G 5: 31,212,365 (GRCm39) T23A probably benign Het
Cdca7 A G 2: 72,313,759 (GRCm39) R183G probably benign Het
Cdpf1 T C 15: 85,693,513 (GRCm39) T5A probably benign Het
Cep85 T C 4: 133,883,490 (GRCm39) D133G probably damaging Het
Chrna9 T C 5: 66,128,359 (GRCm39) L189P probably damaging Het
Clca3a1 A C 3: 144,713,689 (GRCm39) probably null Het
Cntn1 G T 15: 92,140,876 (GRCm39) V201F probably damaging Het
Col4a3 A G 1: 82,644,267 (GRCm39) E352G unknown Het
Ddhd2 T C 8: 26,242,164 (GRCm39) Y237C probably damaging Het
Dnah6 A C 6: 73,014,605 (GRCm39) F3609V probably benign Het
Epha3 T C 16: 63,422,650 (GRCm39) K580R possibly damaging Het
Fam135b T C 15: 71,334,560 (GRCm39) N878S probably benign Het
Fbn1 T G 2: 125,171,022 (GRCm39) T1938P probably damaging Het
Foxg1 T C 12: 49,431,969 (GRCm39) V234A probably damaging Het
Garin5b T C 7: 4,761,660 (GRCm39) N351D probably benign Het
Glt1d1 A T 5: 127,721,478 (GRCm39) N55I probably benign Het
Gm17641 C A 3: 68,776,807 (GRCm39) probably benign Het
Gm7665 A G 18: 16,407,788 (GRCm39) noncoding transcript Het
Hgf A C 5: 16,819,892 (GRCm39) N541T probably benign Het
Hipk2 G A 6: 38,795,814 (GRCm39) P152S probably benign Het
Jarid2 C T 13: 45,060,041 (GRCm39) L720F probably damaging Het
Kifc5b A G 17: 27,143,761 (GRCm39) E511G probably damaging Het
Ldlr G A 9: 21,646,538 (GRCm39) A235T probably benign Het
Lmln A G 16: 32,894,550 (GRCm39) D231G possibly damaging Het
Lrp1 A G 10: 127,403,364 (GRCm39) C2070R probably damaging Het
Mbl1 A G 14: 40,880,681 (GRCm39) T190A possibly damaging Het
Mpdz A T 4: 81,299,934 (GRCm39) S355T probably benign Het
Muc19 C T 15: 91,772,332 (GRCm39) noncoding transcript Het
Mycbp2 A C 14: 103,376,671 (GRCm39) probably null Het
Naa20 T C 2: 145,757,762 (GRCm39) S164P probably damaging Het
Nme4 A T 17: 26,312,807 (GRCm39) probably benign Het
Npas2 A T 1: 39,386,587 (GRCm39) R619* probably null Het
Nudt19 G A 7: 35,255,171 (GRCm39) T20I possibly damaging Het
Or4c119 T A 2: 88,987,283 (GRCm39) K79* probably null Het
Or5b97 A G 19: 12,878,365 (GRCm39) Y260H probably damaging Het
Pitpnc1 A G 11: 107,187,054 (GRCm39) Y90H possibly damaging Het
Rcor2 A G 19: 7,247,150 (GRCm39) T6A probably benign Het
Rif1 T A 2: 51,999,940 (GRCm39) S1131R probably damaging Het
Rtkn T A 6: 83,127,972 (GRCm39) D377E probably benign Het
Rtn4rl2 T A 2: 84,702,846 (GRCm39) N242I probably damaging Het
Sbno2 G A 10: 79,898,022 (GRCm39) L719F probably benign Het
Scn11a G T 9: 119,648,897 (GRCm39) D55E probably damaging Het
Setd1b T A 5: 123,289,929 (GRCm39) I632N unknown Het
Spaca6 A G 17: 18,051,458 (GRCm39) T45A probably benign Het
Srpk2 A T 5: 23,729,390 (GRCm39) D416E possibly damaging Het
Sspo A T 6: 48,443,889 (GRCm39) probably null Het
Sycp1 A T 3: 102,752,370 (GRCm39) I804N probably benign Het
Tdp2 G A 13: 25,015,809 (GRCm39) R32Q probably benign Het
Tgfbr3 A G 5: 107,284,795 (GRCm39) V618A possibly damaging Het
Tmc3 C T 7: 83,258,326 (GRCm39) P439S probably benign Het
Tnxb A T 17: 34,936,457 (GRCm39) D2740V probably damaging Het
Tspyl4 A G 10: 34,173,933 (GRCm39) T142A probably benign Het
Ttn T C 2: 76,710,785 (GRCm39) probably benign Het
Tubgcp4 T C 2: 121,004,061 (GRCm39) L34P probably damaging Het
Tubgcp6 G T 15: 88,983,748 (GRCm39) probably benign Het
Unc79 T A 12: 103,078,962 (GRCm39) V1690E probably benign Het
Vps4b T C 1: 106,724,148 (GRCm39) probably null Het
Wtap A G 17: 13,186,525 (GRCm39) S341P possibly damaging Het
Wwc1 T C 11: 35,774,172 (GRCm39) T363A probably benign Het
Zbtb8a G A 4: 129,254,293 (GRCm39) T67M probably damaging Het
Zfp865 T C 7: 5,037,668 (GRCm39) 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
R4812:Apbb1 UTSW 7 105,223,232 (GRCm39) missense probably damaging 0.99
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'- TTCTAGAGCAAAGGTGACAGC -3'
(R):5'- AAGCACCAAGGCTCCCTTTC -3'

Sequencing Primer
(F):5'- TGACAGCTAGTTAAGGGAGTGG -3'
(R):5'- AAGGCTCCCTTTCTGTGTG -3'
Posted On 2016-06-15