Incidental Mutation 'R4821:Nae1'
ID 370225
Institutional Source Beutler Lab
Gene Symbol Nae1
Ensembl Gene ENSMUSG00000031878
Gene Name NEDD8 activating enzyme E1 subunit 1
Synonyms Appbp1
MMRRC Submission 042437-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4821 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 105237660-105261269 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 105246416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 294 (C294G)
Ref Sequence ENSEMBL: ENSMUSP00000034349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034349] [ENSMUST00000162466]
AlphaFold Q8VBW6
Predicted Effect probably damaging
Transcript: ENSMUST00000034349
AA Change: C294G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034349
Gene: ENSMUSG00000031878
AA Change: C294G

DomainStartEndE-ValueType
Pfam:ThiF 13 533 1.7e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160913
Predicted Effect possibly damaging
Transcript: ENSMUST00000162466
AA Change: C270G

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125456
Gene: ENSMUSG00000031878
AA Change: C270G

DomainStartEndE-ValueType
PDB:3GZN|C 1 510 N/A PDB
SCOP:d1jw9b_ 9 145 5e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161411
Meta Mutation Damage Score 0.9318 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 100% (79/79)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,871 (GRCm39) K150R probably damaging Het
Aak1 T C 6: 86,827,171 (GRCm39) V46A probably damaging Het
Abcb9 T C 5: 124,228,212 (GRCm39) T10A probably benign Het
Acaca A G 11: 84,185,813 (GRCm39) D116G possibly damaging Het
Adam33 G A 2: 130,903,115 (GRCm39) P43L probably benign Het
Adamtsl2 T A 2: 26,988,604 (GRCm39) probably null Het
Akap13 A G 7: 75,327,255 (GRCm39) probably benign Het
Art1 T A 7: 101,756,385 (GRCm39) L192Q probably damaging Het
Baalc A G 15: 38,796,575 (GRCm39) probably benign Het
Baz2a A G 10: 127,946,978 (GRCm39) E164G probably damaging Het
Bcs1l A G 1: 74,631,144 (GRCm39) I391V probably benign Het
Cacna1c T C 6: 118,673,386 (GRCm39) T497A probably damaging Het
Cap2 C A 13: 46,763,586 (GRCm39) T164N probably damaging Het
Ccdc57 A G 11: 120,751,225 (GRCm39) probably null Het
Ccdc88c T C 12: 100,904,338 (GRCm39) N1120S probably benign Het
Cfap210 T C 2: 69,612,452 (GRCm39) E96G possibly damaging Het
Chd7 T A 4: 8,844,706 (GRCm39) V1605D probably damaging Het
Col12a1 A T 9: 79,622,622 (GRCm39) probably benign Het
Commd3 T C 2: 18,677,339 (GRCm39) S22P probably benign Het
Cpd T C 11: 76,737,063 (GRCm39) I244V probably benign Het
Cpeb2 C A 5: 43,390,817 (GRCm39) probably benign Het
Cyp2c65 A G 19: 39,060,635 (GRCm39) D165G probably damaging Het
Ddx1 T C 12: 13,289,148 (GRCm39) Y152C probably damaging Het
Dennd4a G A 9: 64,804,531 (GRCm39) C1290Y possibly damaging Het
Ebf4 G A 2: 130,148,965 (GRCm39) M232I probably benign Het
Farp2 A G 1: 93,502,192 (GRCm39) probably null Het
Frk T C 10: 34,360,233 (GRCm39) V78A probably benign Het
Gm5799 A G 14: 43,782,098 (GRCm39) D90G probably damaging Het
Gpr45 C G 1: 43,069,613 (GRCm39) probably benign Het
Hfm1 C T 5: 107,002,606 (GRCm39) probably null Het
Igkv4-57-1 T A 6: 69,521,387 (GRCm39) D105V probably damaging Het
Impdh2-ps A G 8: 100,757,995 (GRCm39) noncoding transcript Het
Kctd4 G A 14: 76,200,217 (GRCm39) V63I probably benign Het
Lcn6 T A 2: 25,570,822 (GRCm39) L137M probably damaging Het
Lonrf1 T C 8: 36,687,126 (GRCm39) N737D probably benign Het
Mcu C T 10: 59,303,511 (GRCm39) V109M probably damaging Het
Mecom C A 3: 30,039,500 (GRCm39) K186N probably damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Mybpc1 T C 10: 88,384,727 (GRCm39) D533G probably damaging Het
Ncapg2 T G 12: 116,379,077 (GRCm39) H190Q probably damaging Het
Nkx2-2 A T 2: 147,027,763 (GRCm39) L59Q possibly damaging Het
Nrxn3 C T 12: 90,171,483 (GRCm39) T295I probably damaging Het
Obscn C T 11: 58,897,652 (GRCm39) probably benign Het
Obscn A T 11: 58,931,293 (GRCm39) M5781K probably damaging Het
Or11g24 A G 14: 50,662,206 (GRCm39) T77A possibly damaging Het
Or4k39 T C 2: 111,239,570 (GRCm39) noncoding transcript Het
Or4z4 T A 19: 12,076,110 (GRCm39) M298L probably benign Het
Pcdhb6 C A 18: 37,467,381 (GRCm39) P101T probably damaging Het
Pot1b A G 17: 55,979,885 (GRCm39) S324P possibly damaging Het
Potefam1 T C 2: 111,034,490 (GRCm39) probably null Het
Ppcdc C T 9: 57,342,194 (GRCm39) V43I probably benign Het
Prr13 A T 15: 102,369,120 (GRCm39) probably benign Het
Rab10os T A 12: 3,287,322 (GRCm39) noncoding transcript Het
Rabgap1 T C 2: 37,422,531 (GRCm39) S595P probably damaging Het
Rap1gap T C 4: 137,439,440 (GRCm39) S126P probably damaging Het
Rgs6 A T 12: 83,114,185 (GRCm39) probably null Het
Slc5a6 T A 5: 31,194,228 (GRCm39) K610* probably null Het
Sun5 C T 2: 153,711,386 (GRCm39) V27I probably benign Het
Tmco5b T C 2: 113,120,102 (GRCm39) I126T probably benign Het
Tmed7 G A 18: 46,726,480 (GRCm39) Q92* probably null Het
Trav7d-2 A G 14: 52,921,885 (GRCm39) D98G probably benign Het
Trbv16 T A 6: 41,128,936 (GRCm39) L40Q probably damaging Het
Ush2a T C 1: 188,485,848 (GRCm39) V2986A probably benign Het
Usp33 T C 3: 152,064,310 (GRCm39) V58A probably benign Het
Vmn2r94 T A 17: 18,477,293 (GRCm39) M373L probably benign Het
Ywhaq T C 12: 21,467,512 (GRCm39) probably benign Het
Zbbx G A 3: 74,989,054 (GRCm39) H345Y possibly damaging Het
Zfp346 G T 13: 55,261,626 (GRCm39) probably benign Het
Zfp616 C T 11: 73,975,033 (GRCm39) A434V probably benign Het
Zfp992 C T 4: 146,551,976 (GRCm39) H566Y probably damaging 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
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
R5240:Nae1 UTSW 8 105,249,776 (GRCm39) intron probably benign
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'- ATCAGGAATTGTGCCTCGGAC -3'
(R):5'- CCATCAGATCTCCATCAGAATCTG -3'

Sequencing Primer
(F):5'- CGGACAGGTAAATTTCCTTGACC -3'
(R):5'- CTGCACTTTGAAAATATAAAGGAC -3'
Posted On 2016-02-04