Incidental Mutation 'R5240:Nae1'
ID 400731
Institutional Source Beutler Lab
Gene Symbol Nae1
Ensembl Gene ENSMUSG00000031878
Gene Name NEDD8 activating enzyme E1 subunit 1
Synonyms Appbp1
MMRRC Submission 042811-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5240 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 105237660-105261269 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 105249776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034349] [ENSMUST00000162466]
AlphaFold Q8VBW6
Predicted Effect probably benign
Transcript: ENSMUST00000034349
SMART Domains Protein: ENSMUSP00000034349
Gene: ENSMUSG00000031878

DomainStartEndE-ValueType
Pfam:ThiF 13 533 1.7e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161474
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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 100% (69/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A C 3: 59,659,449 (GRCm39) T301P probably damaging Het
Cdc42bpg T G 19: 6,365,929 (GRCm39) L786R probably damaging Het
Cfap73 C T 5: 120,767,772 (GRCm39) V260I probably damaging Het
Chchd10 A T 10: 75,773,283 (GRCm39) N131I probably damaging Het
Chn2 T C 6: 54,197,680 (GRCm39) V190A probably benign Het
Clec2l C T 6: 38,650,387 (GRCm39) T64I probably damaging Het
Cpeb3 T A 19: 37,151,915 (GRCm39) T154S probably damaging Het
D130043K22Rik A G 13: 25,061,960 (GRCm39) E643G probably damaging Het
Ddx31 A G 2: 28,736,042 (GRCm39) M127V probably benign Het
Dennd1b A G 1: 138,990,615 (GRCm39) Y193C probably damaging Het
Dgke T A 11: 88,941,511 (GRCm39) D288V probably damaging Het
Dst T A 1: 34,247,639 (GRCm39) L1683* probably null Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
E130116L18Rik G T 5: 25,428,018 (GRCm39) probably benign Het
Eif2b5 G A 16: 20,320,148 (GRCm39) V115I possibly damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fgfr3 A T 5: 33,887,382 (GRCm39) T234S probably damaging Het
Gipc2 A T 3: 151,808,299 (GRCm39) D251E possibly damaging Het
Gm11787 A C 4: 3,511,810 (GRCm39) noncoding transcript Het
Haus6 A G 4: 86,501,415 (GRCm39) Y819H possibly damaging Het
Homez G A 14: 55,095,531 (GRCm39) A59V probably damaging Het
Iffo1 T C 6: 125,129,423 (GRCm39) V363A probably benign Het
Ifit2 T A 19: 34,551,796 (GRCm39) D445E probably benign Het
Ipo9 A C 1: 135,317,344 (GRCm39) probably benign Het
Kcnv1 C T 15: 44,976,640 (GRCm39) G216R probably damaging Het
Kdm6b A C 11: 69,292,730 (GRCm39) probably benign Het
Mplkip T C 13: 17,870,304 (GRCm39) S79P probably damaging Het
Nfe2l2 A T 2: 75,506,353 (GRCm39) N582K possibly damaging Het
Nsmce4a G A 7: 130,138,754 (GRCm39) R297C probably damaging Het
Or1e1f T C 11: 73,855,632 (GRCm39) L66P probably damaging Het
Or3a1d T A 11: 74,238,068 (GRCm39) D114V probably damaging Het
Or5p70 A T 7: 107,994,909 (GRCm39) D194V probably damaging Het
Osbp T A 19: 11,955,654 (GRCm39) F357I probably damaging Het
Pcdhb4 A G 18: 37,442,979 (GRCm39) D763G possibly damaging Het
Pcdhgb2 A C 18: 37,824,103 (GRCm39) I365L possibly damaging Het
Pde6g A G 11: 120,338,912 (GRCm39) probably benign Het
Pigo C A 4: 43,020,675 (GRCm39) V756L possibly damaging Het
Pkhd1 G T 1: 20,345,865 (GRCm39) T2721K probably benign Het
Pls1 A T 9: 95,658,675 (GRCm39) probably null Het
Prim2 A G 1: 33,519,397 (GRCm39) probably benign Het
Prkd2 T A 7: 16,589,711 (GRCm39) I471N probably benign Het
Prrc2b C T 2: 32,096,408 (GRCm39) T593I probably benign Het
Ptch2 C A 4: 116,963,335 (GRCm39) probably benign Het
Pth A T 7: 112,985,051 (GRCm39) D107E probably damaging Het
Pycr2 A C 1: 180,735,188 (GRCm39) Q315P probably benign Het
Rbpj A T 5: 53,806,782 (GRCm39) Y209F probably damaging Het
Ripk4 C A 16: 97,544,967 (GRCm39) R560L probably damaging Het
Sdr42e1 T C 8: 118,390,021 (GRCm39) R207G probably benign Het
Sipa1l1 A G 12: 82,388,362 (GRCm39) Y196C possibly damaging Het
Smarcc2 T C 10: 128,316,875 (GRCm39) probably null Het
Stom T A 2: 35,226,889 (GRCm39) I15F probably benign Het
Sugp2 G T 8: 70,695,925 (GRCm39) L299F probably benign Het
Tbrg4 A T 11: 6,567,516 (GRCm39) probably null Het
Tkt G T 14: 30,287,635 (GRCm39) G210C probably damaging Het
Tmem163 G A 1: 127,419,289 (GRCm39) probably benign Het
Trip12 A G 1: 84,771,854 (GRCm39) I98T probably benign Het
Unc5b A G 10: 60,610,419 (GRCm39) I466T probably damaging Het
Unc79 T A 12: 103,037,010 (GRCm39) F599L probably damaging Het
Vav1 G A 17: 57,604,122 (GRCm39) E151K probably damaging Het
Vcan T G 13: 89,840,651 (GRCm39) D1631A probably benign Het
Vmn2r4 A C 3: 64,314,358 (GRCm39) S208A possibly damaging Het
Zfp619 A G 7: 39,186,642 (GRCm39) T891A possibly damaging Het
Zfp672 A G 11: 58,220,527 (GRCm39) probably benign Het
Znhit1 T A 5: 137,011,235 (GRCm39) probably null Het
Other mutations in Nae1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Nae1 APN 8 105,253,013 (GRCm39) missense possibly damaging 0.70
IGL00585:Nae1 APN 8 105,252,910 (GRCm39) critical splice donor site probably null
IGL00765:Nae1 APN 8 105,244,582 (GRCm39) splice site probably benign
IGL01420:Nae1 APN 8 105,249,797 (GRCm39) missense probably benign 0.00
IGL02314:Nae1 APN 8 105,252,938 (GRCm39) missense probably damaging 0.99
IGL02565:Nae1 APN 8 105,237,841 (GRCm39) missense probably damaging 1.00
IGL03202:Nae1 APN 8 105,244,811 (GRCm39) splice site probably benign
IGL03266:Nae1 APN 8 105,239,828 (GRCm39) splice site probably benign
Hangul UTSW 8 105,246,267 (GRCm39) missense probably damaging 0.99
pixy_stix UTSW 8 105,246,416 (GRCm39) missense probably damaging 1.00
taebaeksan UTSW 8 105,257,023 (GRCm39) critical splice donor site probably null
R0436:Nae1 UTSW 8 105,249,868 (GRCm39) splice site probably benign
R0687:Nae1 UTSW 8 105,239,876 (GRCm39) missense probably damaging 1.00
R1500:Nae1 UTSW 8 105,250,216 (GRCm39) missense probably benign 0.06
R1746:Nae1 UTSW 8 105,254,017 (GRCm39) missense possibly damaging 0.74
R2241:Nae1 UTSW 8 105,246,420 (GRCm39) missense probably benign 0.00
R2255:Nae1 UTSW 8 105,256,700 (GRCm39) missense probably damaging 1.00
R4821:Nae1 UTSW 8 105,246,416 (GRCm39) missense probably damaging 1.00
R4928:Nae1 UTSW 8 105,242,774 (GRCm39) missense possibly damaging 0.76
R5062:Nae1 UTSW 8 105,243,334 (GRCm39) missense possibly damaging 0.60
R5250:Nae1 UTSW 8 105,257,023 (GRCm39) critical splice donor site probably null
R6052:Nae1 UTSW 8 105,261,176 (GRCm39) missense probably benign 0.01
R6075:Nae1 UTSW 8 105,251,001 (GRCm39) missense possibly damaging 0.77
R6108:Nae1 UTSW 8 105,254,034 (GRCm39) missense probably benign 0.07
R6318:Nae1 UTSW 8 105,250,269 (GRCm39) missense probably benign 0.40
R7120:Nae1 UTSW 8 105,252,910 (GRCm39) critical splice donor site probably null
R7202:Nae1 UTSW 8 105,250,215 (GRCm39) missense possibly damaging 0.77
R7491:Nae1 UTSW 8 105,244,871 (GRCm39) missense probably benign 0.13
R7659:Nae1 UTSW 8 105,242,796 (GRCm39) missense probably benign 0.26
R8120:Nae1 UTSW 8 105,246,267 (GRCm39) missense probably damaging 0.99
R9381:Nae1 UTSW 8 105,250,239 (GRCm39) missense probably benign 0.00
R9402:Nae1 UTSW 8 105,254,817 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GAAACACAGCCATTTGTTCTTCC -3'
(R):5'- AGCAAGCCTCTGTTTCAGTG -3'

Sequencing Primer
(F):5'- GTGTAACCCTGGCTGTCCTAGAAC -3'
(R):5'- GCCTCTGTTTCAGTGATTTTATAATG -3'
Posted On 2016-07-06