Incidental Mutation 'R1561:Bace1'
ID 170613
Institutional Source Beutler Lab
Gene Symbol Bace1
Ensembl Gene ENSMUSG00000032086
Gene Name beta-site APP cleaving enzyme 1
Synonyms
MMRRC Submission 039600-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.380) question?
Stock # R1561 (G1)
Quality Score 204
Status Not validated
Chromosome 9
Chromosomal Location 45749878-45775694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 45750492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 56 (R56L)
Ref Sequence ENSEMBL: ENSMUSP00000077249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034591] [ENSMUST00000078111]
AlphaFold P56818
Predicted Effect probably benign
Transcript: ENSMUST00000034591
AA Change: R56L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000034591
Gene: ENSMUSG00000032086
AA Change: R56L

DomainStartEndE-ValueType
low complexity region 27 45 N/A INTRINSIC
Pfam:Asp 74 418 3.1e-46 PFAM
Pfam:TAXi_C 259 417 1.2e-13 PFAM
transmembrane domain 455 477 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000078111
AA Change: R56L

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000077249
Gene: ENSMUSG00000032086
AA Change: R56L

DomainStartEndE-ValueType
low complexity region 27 45 N/A INTRINSIC
Pfam:Asp 74 295 9.5e-34 PFAM
Pfam:TAXi_C 290 383 1.5e-8 PFAM
transmembrane domain 421 443 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159499
SMART Domains Protein: ENSMUSP00000124773
Gene: ENSMUSG00000032086

DomainStartEndE-ValueType
Pfam:Asp 4 61 4.5e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182691
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. Homozygous knockout mice for this gene exhibit a wide range of nervous system defects, growth retardation, metabolic abnormalities, and increased neonatal lethality. [provided by RefSeq, Nov 2015]
PHENOTYPE: Some alleles with a targeted mutation exhibit small body size, postnatal lethality, hyperactivity, decreased anxiety, and abnormal APP processing by neurons, while others appear normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,184,431 (GRCm39) N69D probably benign Het
Alms1 T A 6: 85,606,034 (GRCm39) Y2561* probably null Het
Ap1g2 T C 14: 55,342,344 (GRCm39) E171G probably damaging Het
Atg7 T C 6: 114,678,133 (GRCm39) V341A possibly damaging Het
Cd200l1 A G 16: 45,262,875 (GRCm39) V88A possibly damaging Het
Chfr A T 5: 110,306,674 (GRCm39) D472V probably benign Het
Ckap2l G A 2: 129,112,645 (GRCm39) T621I probably benign Het
Cmip A G 8: 118,180,589 (GRCm39) T554A probably benign Het
Crocc C T 4: 140,757,579 (GRCm39) E905K probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
F5 C A 1: 164,014,472 (GRCm39) S581* probably null Het
Fam227a T A 15: 79,520,963 (GRCm39) Y291F possibly damaging Het
Gpr151 A T 18: 42,712,221 (GRCm39) S152R probably benign Het
Gpr158 A T 2: 21,820,505 (GRCm39) probably null Het
Kcna5 T C 6: 126,511,546 (GRCm39) Y194C probably damaging Het
Khsrp A G 17: 57,332,639 (GRCm39) S214P probably benign Het
Mrgprb1 C G 7: 48,096,873 (GRCm39) probably null Het
Mrnip C T 11: 50,067,676 (GRCm39) T30I probably damaging Het
Mtus2 A C 5: 148,013,362 (GRCm39) K52Q probably benign Het
Naca G T 10: 127,876,267 (GRCm39) probably benign Het
Obscn T G 11: 58,926,899 (GRCm39) T5539P probably damaging Het
Or13p3 T A 4: 118,566,751 (GRCm39) I49N probably damaging Het
Or9m1 C T 2: 87,733,505 (GRCm39) V172I probably benign Het
Ovca2 A G 11: 75,068,805 (GRCm39) L198P probably damaging Het
Pdzrn4 T C 15: 92,575,518 (GRCm39) V308A possibly damaging Het
Pkd1l3 A G 8: 110,341,445 (GRCm39) I99M unknown Het
Polr3b T A 10: 84,470,776 (GRCm39) M139K probably damaging Het
Prkag2 T C 5: 25,076,593 (GRCm39) Y191C probably damaging Het
Prss47 A T 13: 65,194,062 (GRCm39) C278S probably damaging Het
Ptprm T C 17: 67,247,536 (GRCm39) T600A probably damaging Het
Ruvbl1 T C 6: 88,456,136 (GRCm39) V70A probably damaging Het
Sf3a1 T C 11: 4,129,217 (GRCm39) V726A probably benign Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Slc26a3 A G 12: 31,516,451 (GRCm39) N603S probably benign Het
Slc2a1 A G 4: 118,993,606 (GRCm39) E481G possibly damaging Het
Slc35a5 A C 16: 44,971,884 (GRCm39) S127A possibly damaging Het
Spen C A 4: 141,199,694 (GRCm39) G2978* probably null Het
Srrt T A 5: 137,298,281 (GRCm39) E297V probably benign Het
Srsf4 T A 4: 131,625,006 (GRCm39) D134E probably damaging Het
Tdrd6 G A 17: 43,936,515 (GRCm39) S1511L probably damaging Het
Tmem65 T A 15: 58,694,707 (GRCm39) I91F probably benign Het
Top2b A G 14: 16,398,993 (GRCm38) K538E possibly damaging Het
Trappc8 G A 18: 20,974,680 (GRCm39) R883* probably null Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Vav3 T C 3: 109,402,154 (GRCm39) probably null Het
Vmn1r42 C T 6: 89,822,363 (GRCm39) G69S probably damaging Het
Zan A T 5: 137,379,100 (GRCm39) Y5333* probably null Het
Zfp994 A C 17: 22,420,206 (GRCm39) F248V probably damaging Het
Other mutations in Bace1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Bace1 APN 9 45,750,588 (GRCm39) critical splice donor site probably null
IGL03378:Bace1 APN 9 45,770,199 (GRCm39) splice site probably null
R0071:Bace1 UTSW 9 45,765,997 (GRCm39) intron probably benign
R1819:Bace1 UTSW 9 45,768,460 (GRCm39) missense possibly damaging 0.48
R2097:Bace1 UTSW 9 45,771,520 (GRCm39) missense probably benign 0.00
R4067:Bace1 UTSW 9 45,765,962 (GRCm39) missense probably damaging 1.00
R4864:Bace1 UTSW 9 45,766,109 (GRCm39) missense probably damaging 1.00
R5814:Bace1 UTSW 9 45,771,562 (GRCm39) missense probably damaging 1.00
R5818:Bace1 UTSW 9 45,770,347 (GRCm39) missense possibly damaging 0.94
R6365:Bace1 UTSW 9 45,765,974 (GRCm39) nonsense probably null
R6968:Bace1 UTSW 9 45,766,263 (GRCm39) splice site probably null
R7188:Bace1 UTSW 9 45,767,393 (GRCm39) missense probably benign
R7517:Bace1 UTSW 9 45,771,559 (GRCm39) missense probably benign 0.32
R7560:Bace1 UTSW 9 45,767,437 (GRCm39) missense possibly damaging 0.50
R7729:Bace1 UTSW 9 45,769,743 (GRCm39) missense probably damaging 1.00
R8222:Bace1 UTSW 9 45,768,491 (GRCm39) missense probably damaging 1.00
R9268:Bace1 UTSW 9 45,767,282 (GRCm39) intron probably benign
X0020:Bace1 UTSW 9 45,771,480 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CTGGAAGACCCCGAAAGCTACG -3'
(R):5'- GGGCAGGCTGCTTCATCTCTAC -3'

Sequencing Primer
(F):5'- GCTCTCCTGAGAGAAGCCAC -3'
(R):5'- GGCTGCTTCATCTCTACCCTATC -3'
Posted On 2014-04-13