Incidental Mutation 'R5240:Nae1'
ID400731
Institutional Source Beutler Lab
Gene Symbol Nae1
Ensembl Gene ENSMUSG00000031878
Gene NameNEDD8 activating enzyme E1 subunit 1
SynonymsAppbp1
MMRRC Submission 042811-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5240 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location104511028-104534637 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 104523144 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034349] [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 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: 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213067
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
Cdc42bpg T G 19: 6,315,899 L786R probably damaging Het
Cfap73 C T 5: 120,629,707 V260I probably damaging Het
Chchd10 A T 10: 75,937,449 N131I probably damaging Het
Chn2 T C 6: 54,220,695 V190A probably benign Het
Clec2l C T 6: 38,673,452 T64I probably damaging Het
Cpeb3 T A 19: 37,174,515 T154S probably damaging Het
D130043K22Rik A G 13: 24,877,977 E643G probably damaging Het
Ddx31 A G 2: 28,846,030 M127V probably benign Het
Dennd1b A G 1: 139,062,877 Y193C probably damaging Het
Dgke T A 11: 89,050,685 D288V probably damaging Het
Dst T A 1: 34,208,558 L1683* probably null Het
Dupd1 G A 14: 21,677,023 R186W probably benign Het
E130116L18Rik G T 5: 25,223,020 probably benign Het
Eif2b5 G A 16: 20,501,398 V115I possibly damaging Het
Fchsd1 C T 18: 37,959,873 probably benign Het
Fgfr3 A T 5: 33,730,038 T234S probably damaging Het
Gipc2 A T 3: 152,102,662 D251E possibly damaging Het
Gm11787 A C 4: 3,511,810 noncoding transcript Het
Gm5538 A C 3: 59,752,028 T301P probably damaging Het
Haus6 A G 4: 86,583,178 Y819H possibly damaging Het
Homez G A 14: 54,858,074 A59V probably damaging Het
Iffo1 T C 6: 125,152,460 V363A probably benign Het
Ifit2 T A 19: 34,574,396 D445E probably benign Het
Ipo9 A C 1: 135,389,606 probably benign Het
Kcnv1 C T 15: 45,113,244 G216R probably damaging Het
Kdm6b A C 11: 69,401,904 probably benign Het
Mplkip T C 13: 17,695,719 S79P probably damaging Het
Nfe2l2 A T 2: 75,676,009 N582K possibly damaging Het
Nsmce4a G A 7: 130,537,024 R297C probably damaging Het
Olfr397 T C 11: 73,964,806 L66P probably damaging Het
Olfr411 T A 11: 74,347,242 D114V probably damaging Het
Olfr495 A T 7: 108,395,702 D194V probably damaging Het
Osbp T A 19: 11,978,290 F357I probably damaging Het
Pcdhb4 A G 18: 37,309,926 D763G possibly damaging Het
Pcdhgb2 A C 18: 37,691,050 I365L possibly damaging Het
Pde6g A G 11: 120,448,086 probably benign Het
Pigo C A 4: 43,020,675 V756L possibly damaging Het
Pkhd1 G T 1: 20,275,641 T2721K probably benign Het
Pls1 A T 9: 95,776,622 probably null Het
Prim2 A G 1: 33,480,316 probably benign Het
Prkd2 T A 7: 16,855,786 I471N probably benign Het
Prrc2b C T 2: 32,206,396 T593I probably benign Het
Ptch2 C A 4: 117,106,138 probably benign Het
Pth A T 7: 113,385,844 D107E probably damaging Het
Pycr2 A C 1: 180,907,623 Q315P probably benign Het
Rbpj A T 5: 53,649,440 Y209F probably damaging Het
Ripk4 C A 16: 97,743,767 R560L probably damaging Het
Sdr42e1 T C 8: 117,663,282 R207G probably benign Het
Sipa1l1 A G 12: 82,341,588 Y196C possibly damaging Het
Smarcc2 T C 10: 128,481,006 probably null Het
Stom T A 2: 35,336,877 I15F probably benign Het
Sugp2 G T 8: 70,243,275 L299F probably benign Het
Tbrg4 A T 11: 6,617,516 probably null Het
Tkt G T 14: 30,565,678 G210C probably damaging Het
Tmem163 G A 1: 127,491,552 probably benign Het
Trip12 A G 1: 84,794,133 I98T probably benign Het
Unc5b A G 10: 60,774,640 I466T probably damaging Het
Unc79 T A 12: 103,070,751 F599L probably damaging Het
Vav1 G A 17: 57,297,122 E151K probably damaging Het
Vcan T G 13: 89,692,532 D1631A probably benign Het
Vmn2r4 A C 3: 64,406,937 S208A possibly damaging Het
Zfp619 A G 7: 39,537,218 T891A possibly damaging Het
Zfp672 A G 11: 58,329,701 probably benign Het
Znhit1 T A 5: 136,982,381 probably null 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
IGL03266:Nae1 APN 8 104513196 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
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
R7491:Nae1 UTSW 8 104518239 missense probably benign 0.13
R7659:Nae1 UTSW 8 104516164 missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- GAAACACAGCCATTTGTTCTTCC -3'
(R):5'- AGCAAGCCTCTGTTTCAGTG -3'

Sequencing Primer
(F):5'- GTGTAACCCTGGCTGTCCTAGAAC -3'
(R):5'- GCCTCTGTTTCAGTGATTTTATAATG -3'
Posted On2016-07-06