Incidental Mutation 'R6837:Aup1'
ID 537894
Institutional Source Beutler Lab
Gene Symbol Aup1
Ensembl Gene ENSMUSG00000068328
Gene Name ancient ubiquitous protein 1
Synonyms
MMRRC Submission 044945-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.308) question?
Stock # R6837 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 83031483-83034663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83034279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 396 (T396I)
Ref Sequence ENSEMBL: ENSMUSP00000090281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000707] [ENSMUST00000077502] [ENSMUST00000089645] [ENSMUST00000092618] [ENSMUST00000101257] [ENSMUST00000113962] [ENSMUST00000113963] [ENSMUST00000122955] [ENSMUST00000134606] [ENSMUST00000204803]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000000707
SMART Domains Protein: ENSMUSP00000000707
Gene: ENSMUSG00000000693

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
SR 45 146 2.1e-50 SMART
SR 170 283 1.09e-25 SMART
SR 308 408 3.72e-51 SMART
SR 418 526 8.5e-37 SMART
Pfam:Lysyl_oxidase 530 730 3.9e-103 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077502
SMART Domains Protein: ENSMUSP00000076708
Gene: ENSMUSG00000009145

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
DEXDc 30 236 5.01e-4 SMART
low complexity region 268 280 N/A INTRINSIC
low complexity region 288 301 N/A INTRINSIC
HA2 441 530 4e-19 SMART
Pfam:OB_NTP_bind 555 674 2.2e-11 PFAM
low complexity region 695 708 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089645
SMART Domains Protein: ENSMUSP00000087073
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
transmembrane domain 106 125 N/A INTRINSIC
low complexity region 128 143 N/A INTRINSIC
Pfam:Trypsin 170 341 1.1e-14 PFAM
Pfam:Trypsin_2 182 320 1.2e-34 PFAM
PDZ 371 445 2.86e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000092618
AA Change: T396I

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090281
Gene: ENSMUSG00000068328
AA Change: T396I

DomainStartEndE-ValueType
low complexity region 10 40 N/A INTRINSIC
transmembrane domain 52 74 N/A INTRINSIC
PlsC 119 222 1.04e-1 SMART
low complexity region 307 322 N/A INTRINSIC
CUE 325 366 1.3e-9 SMART
low complexity region 378 392 N/A INTRINSIC
low complexity region 421 439 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101257
SMART Domains Protein: ENSMUSP00000098815
Gene: ENSMUSG00000000693

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
SR 45 146 2.1e-50 SMART
SR 170 283 1.09e-25 SMART
SR 308 396 5.46e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113962
SMART Domains Protein: ENSMUSP00000109595
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
transmembrane domain 106 125 N/A INTRINSIC
low complexity region 128 143 N/A INTRINSIC
Pfam:Trypsin_2 182 237 2.7e-12 PFAM
Pfam:Trypsin 212 277 4.5e-6 PFAM
PDZ 285 348 4.89e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113963
SMART Domains Protein: ENSMUSP00000109596
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
transmembrane domain 106 125 N/A INTRINSIC
low complexity region 128 143 N/A INTRINSIC
Pfam:Trypsin 170 342 6.8e-15 PFAM
Pfam:Trypsin_2 182 320 7.1e-24 PFAM
PDZ 350 413 4.89e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122955
SMART Domains Protein: ENSMUSP00000138153
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
transmembrane domain 106 125 N/A INTRINSIC
low complexity region 128 143 N/A INTRINSIC
Pfam:Trypsin 170 321 2.1e-10 PFAM
Pfam:Trypsin_2 182 317 9.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132099
Predicted Effect probably benign
Transcript: ENSMUST00000134606
SMART Domains Protein: ENSMUSP00000115547
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
Pfam:Trypsin 7 180 2.7e-15 PFAM
Pfam:Trypsin_2 20 158 3.1e-24 PFAM
PDZ 209 283 2.86e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150217
SMART Domains Protein: ENSMUSP00000118234
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 4 11 N/A INTRINSIC
Pfam:Trypsin 41 215 1.6e-11 PFAM
Pfam:Trypsin_2 53 190 1.8e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203915
Predicted Effect probably benign
Transcript: ENSMUST00000204343
Predicted Effect probably benign
Transcript: ENSMUST00000204719
Predicted Effect probably benign
Transcript: ENSMUST00000204803
SMART Domains Protein: ENSMUSP00000144697
Gene: ENSMUSG00000009145

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
DEXDc 30 236 2.1e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (41/42)
MGI Phenotype FUNCTION: The protein encoded by this gene contains several conserved domains including a hydrophobic domain, an acetyltransferase domain, a ubiquitin binding domain, and a domain required for recruitment of ubiquitin-conjugating enzyme E2 G2 (Ube2g2). In humans, this protein localizes to the endoplasmic reticulum and to lipid droplets. This protein is thought to be involved both in the degradation of misfolded proteins from the endoplasmic reticulum and in the storage of neutral lipids. Reduced expression of the human ortholog of this gene strongly reduces lipid droplet clustering in the cell, and causes stabilization of misfolded proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G A 12: 53,188,045 (GRCm39) E1820K probably damaging Het
Anxa8 A T 14: 33,814,511 (GRCm39) I116F probably damaging Het
Arid4a A G 12: 71,122,289 (GRCm39) D890G probably benign Het
C2cd3 G C 7: 100,097,953 (GRCm39) E594Q probably damaging Het
Colgalt2 C T 1: 152,382,579 (GRCm39) P477L probably damaging Het
Dennd3 G A 15: 73,429,542 (GRCm39) D20N probably damaging Het
Dpysl3 A G 18: 43,570,947 (GRCm39) I109T probably benign Het
Fas A T 19: 34,284,564 (GRCm39) T24S probably damaging Het
Fras1 A T 5: 96,874,832 (GRCm39) I2332F probably damaging Het
Gm10267 T C 18: 44,291,375 (GRCm39) H32R probably benign Het
Gm57859 A G 11: 113,579,439 (GRCm39) H278R possibly damaging Het
Hcfc2 A T 10: 82,575,030 (GRCm39) I230F probably damaging Het
Hdac9 T C 12: 34,337,463 (GRCm39) T673A probably benign Het
Herc2 T G 7: 55,839,589 (GRCm39) N3366K possibly damaging Het
Hhla1 T C 15: 65,820,334 (GRCm39) N139D probably damaging Het
Hip1r A G 5: 124,136,928 (GRCm39) E632G possibly damaging Het
Kcnc2 A G 10: 112,294,407 (GRCm39) D98G probably damaging Het
Maip1 T A 1: 57,454,891 (GRCm39) *292K probably null Het
Map2 T C 1: 66,453,731 (GRCm39) F874L probably damaging Het
Myof A T 19: 37,911,404 (GRCm39) probably null Het
Notch2 A G 3: 97,978,170 (GRCm39) probably null Het
Npy5r T A 8: 67,134,392 (GRCm39) M134L probably benign Het
Ntsr2 T A 12: 16,709,710 (GRCm39) M225K probably benign Het
Nup153 G A 13: 46,847,527 (GRCm39) T634I probably damaging Het
Or51f1d T A 7: 102,700,929 (GRCm39) Y141* probably null Het
Pcsk5 T C 19: 17,416,448 (GRCm39) S1667G probably benign Het
Pex13 A G 11: 23,599,527 (GRCm39) I328T possibly damaging Het
Pkd2 T G 5: 104,624,909 (GRCm39) L235W probably damaging Het
Prune2 A T 19: 17,156,292 (GRCm39) D66V probably damaging Het
Rasal3 T C 17: 32,622,044 (GRCm39) N105S probably benign Het
Sla A T 15: 66,658,939 (GRCm39) I144N probably damaging Het
Slc5a4b A T 10: 75,898,220 (GRCm39) I498N possibly damaging Het
Snx14 C T 9: 88,262,276 (GRCm39) E872K probably benign Het
Stx16 G A 2: 173,935,795 (GRCm39) R242H probably benign Het
Tg T C 15: 66,567,984 (GRCm39) F1296S probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmf1 G A 6: 97,153,542 (GRCm39) T177M possibly damaging Het
Tuba4a T C 1: 75,194,038 (GRCm39) Q14R probably damaging Het
Vmn2r114 T C 17: 23,529,176 (GRCm39) M309V probably benign Het
Vps13c C T 9: 67,817,504 (GRCm39) P1059S probably benign Het
Yars1 T A 4: 129,103,544 (GRCm39) S298T possibly damaging Het
Other mutations in Aup1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Aup1 APN 6 83,033,390 (GRCm39) missense probably damaging 1.00
IGL02505:Aup1 APN 6 83,032,258 (GRCm39) missense probably benign 0.06
R0637:Aup1 UTSW 6 83,033,842 (GRCm39) missense probably damaging 1.00
R1544:Aup1 UTSW 6 83,032,187 (GRCm39) missense possibly damaging 0.84
R1686:Aup1 UTSW 6 83,032,226 (GRCm39) missense probably damaging 0.97
R4196:Aup1 UTSW 6 83,032,211 (GRCm39) missense probably damaging 1.00
R4512:Aup1 UTSW 6 83,033,368 (GRCm39) nonsense probably null
R5119:Aup1 UTSW 6 83,032,115 (GRCm39) missense probably damaging 0.96
R5387:Aup1 UTSW 6 83,032,005 (GRCm39) missense probably damaging 0.98
R6329:Aup1 UTSW 6 83,031,588 (GRCm39) unclassified probably benign
R7122:Aup1 UTSW 6 83,032,123 (GRCm39) missense probably benign 0.04
R7474:Aup1 UTSW 6 83,031,948 (GRCm39) missense probably benign 0.38
R7630:Aup1 UTSW 6 83,031,904 (GRCm39) missense unknown
R7701:Aup1 UTSW 6 83,032,908 (GRCm39) missense probably benign 0.21
R7747:Aup1 UTSW 6 83,031,776 (GRCm39) missense unknown
R8069:Aup1 UTSW 6 83,032,910 (GRCm39) nonsense probably null
R8213:Aup1 UTSW 6 83,031,588 (GRCm39) unclassified probably benign
R8732:Aup1 UTSW 6 83,033,602 (GRCm39) missense probably damaging 0.99
Z1176:Aup1 UTSW 6 83,033,614 (GRCm39) missense probably benign 0.00
Z1177:Aup1 UTSW 6 83,034,505 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCAAGGCCAAGACTTAAGGGC -3'
(R):5'- TCTCTGAATCTCCTGTGGGAC -3'

Sequencing Primer
(F):5'- CCAAGACTTAAGGGCAGGTCTG -3'
(R):5'- AGAGAGTGTATAGGCTTTGTCACATC -3'
Posted On 2018-10-18