Incidental Mutation 'IGL03266:Nae1'
ID415093
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nae1
Ensembl Gene ENSMUSG00000031878
Gene NameNEDD8 activating enzyme E1 subunit 1
SynonymsAppbp1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03266
Quality Score
Status
Chromosome8
Chromosomal Location104511028-104534637 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 104513196 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034349] [ENSMUST00000064576] [ENSMUST00000159713] [ENSMUST00000161520] [ENSMUST00000162466]
Predicted Effect probably benign
Transcript: ENSMUST00000034349
SMART Domains Protein: ENSMUSP00000034349
Gene: ENSMUSG00000031878

DomainStartEndE-ValueType
Pfam:ThiF 13 533 1.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064576
SMART Domains Protein: ENSMUSP00000067324
Gene: ENSMUSG00000052616

DomainStartEndE-ValueType
SCOP:d1ee4a_ 2 368 7e-11 SMART
low complexity region 416 428 N/A INTRINSIC
low complexity region 536 545 N/A INTRINSIC
SANT 711 762 7.07e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159330
Predicted Effect probably benign
Transcript: ENSMUST00000159713
SMART Domains Protein: ENSMUSP00000124706
Gene: ENSMUSG00000052616

DomainStartEndE-ValueType
SCOP:d1qgra_ 10 335 6e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161462
Predicted Effect probably benign
Transcript: ENSMUST00000161520
SMART Domains Protein: ENSMUSP00000125431
Gene: ENSMUSG00000052616

DomainStartEndE-ValueType
SCOP:d1qgra_ 10 336 2e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162014
SMART Domains Protein: ENSMUSP00000123925
Gene: ENSMUSG00000052616

DomainStartEndE-ValueType
SCOP:d1jdha_ 21 370 7e-8 SMART
low complexity region 382 394 N/A INTRINSIC
low complexity region 502 511 N/A INTRINSIC
low complexity region 688 695 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162466
SMART Domains Protein: ENSMUSP00000125456
Gene: ENSMUSG00000031878

DomainStartEndE-ValueType
PDB:3GZN|C 1 510 N/A PDB
SCOP:d1jw9b_ 9 145 5e-23 SMART
Coding Region Coverage
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 binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A T 6: 88,838,934 V185E probably damaging Het
Acly T C 11: 100,483,752 E815G probably damaging Het
Actr10 T G 12: 70,956,666 S261A probably benign Het
Als2cl T C 9: 110,890,856 V504A possibly damaging Het
Btla T C 16: 45,239,275 I114T probably damaging Het
Cacna2d3 T A 14: 29,300,748 I348L probably benign Het
Chst15 T A 7: 132,270,076 I159F probably damaging Het
Creld1 T A 6: 113,489,597 H208Q probably benign Het
E330021D16Rik T C 6: 136,400,923 E303G probably damaging Het
Fap C T 2: 62,537,022 V334I probably benign Het
Fat2 C T 11: 55,284,029 V1953M possibly damaging Het
Fgfr3 G A 5: 33,734,365 A595T probably damaging Het
Gm8122 T A 14: 43,232,659 M125L unknown Het
Klk1b1 T G 7: 43,970,476 L153R probably benign Het
Lrig3 T A 10: 126,013,282 M957K probably benign Het
Mc3r C T 2: 172,249,269 A137V probably benign Het
Met T A 6: 17,540,538 L821Q possibly damaging Het
Mrps17 T C 5: 129,716,742 probably benign Het
Myh2 A G 11: 67,176,324 T202A probably benign Het
Pkhd1l1 T A 15: 44,538,952 I2240N probably damaging Het
Ssfa2 G A 2: 79,642,190 probably null Het
Stat6 T C 10: 127,657,155 L552P possibly damaging Het
Trbv3 C A 6: 41,048,724 Q83K probably benign Het
Uaca A T 9: 60,863,407 D344V probably damaging Het
Uggt1 A T 1: 36,150,048 D1452E probably damaging Het
Vwf T C 6: 125,678,077 probably benign Het
Other mutations in Nae1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Nae1 APN 8 104526381 missense possibly damaging 0.70
IGL00585:Nae1 APN 8 104526278 critical splice donor site probably null
IGL00765:Nae1 APN 8 104517950 splice site probably benign
IGL01420:Nae1 APN 8 104523165 missense probably benign 0.00
IGL02314:Nae1 APN 8 104526306 missense probably damaging 0.99
IGL02565:Nae1 APN 8 104511209 missense probably damaging 1.00
IGL03202:Nae1 APN 8 104518179 splice site probably benign
pixy_stix UTSW 8 104519784 missense probably damaging 1.00
taebaeksan UTSW 8 104530391 critical splice donor site probably null
R0436:Nae1 UTSW 8 104523236 splice site probably benign
R0687:Nae1 UTSW 8 104513244 missense probably damaging 1.00
R1500:Nae1 UTSW 8 104523584 missense probably benign 0.06
R1746:Nae1 UTSW 8 104527385 missense possibly damaging 0.74
R2241:Nae1 UTSW 8 104519788 missense probably benign 0.00
R2255:Nae1 UTSW 8 104530068 missense probably damaging 1.00
R4821:Nae1 UTSW 8 104519784 missense probably damaging 1.00
R4928:Nae1 UTSW 8 104516142 missense possibly damaging 0.76
R5062:Nae1 UTSW 8 104516702 missense possibly damaging 0.60
R5240:Nae1 UTSW 8 104523144 intron probably benign
R5250:Nae1 UTSW 8 104530391 critical splice donor site probably null
R6052:Nae1 UTSW 8 104534544 missense probably benign 0.01
R6075:Nae1 UTSW 8 104524369 missense possibly damaging 0.77
R6108:Nae1 UTSW 8 104527402 missense probably benign 0.07
R6318:Nae1 UTSW 8 104523637 missense probably benign 0.40
R7120:Nae1 UTSW 8 104526278 critical splice donor site probably null
R7202:Nae1 UTSW 8 104523583 missense possibly damaging 0.77
Posted On2016-08-02