Incidental Mutation 'R1515:Auh'
ID 168240
Institutional Source Beutler Lab
Gene Symbol Auh
Ensembl Gene ENSMUSG00000021460
Gene Name AU RNA binding protein/enoyl-coenzyme A hydratase
Synonyms W91705
MMRRC Submission 039562-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1515 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 52989155-53083717 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 52989532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 308 (P308L)
Ref Sequence ENSEMBL: ENSMUSP00000021913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021913]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021913
AA Change: P308L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021913
Gene: ENSMUSG00000021460
AA Change: P308L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:ECH_1 59 314 4.5e-62 PFAM
Pfam:ECH_2 64 248 1.6e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137064
SMART Domains Protein: ENSMUSP00000121852
Gene: ENSMUSG00000021460

DomainStartEndE-ValueType
Pfam:ECH_2 1 179 1.9e-28 PFAM
Pfam:ECH_1 1 236 1.1e-51 PFAM
Meta Mutation Damage Score 0.0797 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a critical step in the leucine degradation pathway. This protein also binds AU-rich elements (AREs) found in the 3' UTRs of rapidly decaying mRNAs including c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. This protein is localizes to the mitochondrial matrix and the inner mitochondrial membrane and may be involved in mitochondrial protein synthesis. Mutations in this gene are the cause of 3-methylglutaconic aciduria, type I. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A G 7: 27,336,583 (GRCm39) T401A probably damaging Het
Arhgap32 G T 9: 32,027,498 (GRCm39) V23L probably benign Het
Atmin T A 8: 117,681,579 (GRCm39) C193S possibly damaging Het
Atp13a5 C T 16: 29,152,792 (GRCm39) V225I probably benign Het
BC024139 A G 15: 76,008,526 (GRCm39) V350A possibly damaging Het
Birc6 G T 17: 74,835,631 (GRCm39) E29* probably null Het
Bnc2 T C 4: 84,332,563 (GRCm39) N104S probably null Het
C030048H21Rik T C 2: 26,147,515 (GRCm39) probably null Het
Cd320 G T 17: 34,066,613 (GRCm39) C117F probably damaging Het
Cdkal1 A G 13: 29,510,133 (GRCm39) S542P probably damaging Het
Crocc T C 4: 140,747,048 (GRCm39) T1587A probably benign Het
Defb41 T C 1: 18,330,817 (GRCm39) probably null Het
Dmtf1 A G 5: 9,190,384 (GRCm39) probably null Het
Dnhd1 A G 7: 105,353,355 (GRCm39) N2836S probably benign Het
Dpp8 G A 9: 64,986,030 (GRCm39) S840N probably benign Het
Dsc2 A G 18: 20,167,758 (GRCm39) F111L probably damaging Het
Dsc2 T A 18: 20,178,622 (GRCm39) I261F probably benign Het
Ece1 T C 4: 137,678,819 (GRCm39) V509A probably benign Het
Ecm2 T C 13: 49,671,808 (GRCm39) M103T possibly damaging Het
Emsy T C 7: 98,240,063 (GRCm39) H1064R probably damaging Het
Engase T C 11: 118,377,966 (GRCm39) V252A possibly damaging Het
F13b A G 1: 139,438,703 (GRCm39) Y369C probably damaging Het
Flii T C 11: 60,612,432 (GRCm39) probably null Het
Fzd10 T A 5: 128,679,623 (GRCm39) F448I probably damaging Het
Gpr35 T G 1: 92,910,770 (GRCm39) F161V probably damaging Het
Gprin2 T C 14: 33,917,230 (GRCm39) D180G possibly damaging Het
Grik3 A G 4: 125,564,521 (GRCm39) N501S probably benign Het
Hells A G 19: 38,956,209 (GRCm39) K802E probably damaging Het
Il1r1 T A 1: 40,332,509 (GRCm39) C96* probably null Het
Kcnk16 T A 14: 20,315,345 (GRCm39) I73F probably damaging Het
Kcnq5 A G 1: 21,472,905 (GRCm39) S652P probably benign Het
Lamc3 A G 2: 31,830,763 (GRCm39) D1500G probably damaging Het
Macf1 A G 4: 123,272,273 (GRCm39) F6468L probably damaging Het
Mgrn1 T A 16: 4,733,644 (GRCm39) F198I probably benign Het
Mmp3 A G 9: 7,451,232 (GRCm39) T323A probably benign Het
N4bp2 A G 5: 65,947,841 (GRCm39) Y157C probably benign Het
Nfkbid C A 7: 30,124,781 (GRCm39) H190Q probably benign Het
Or10a3m T C 7: 108,313,148 (GRCm39) V184A possibly damaging Het
Or5b118 T C 19: 13,449,044 (GRCm39) S237P probably damaging Het
Or6c75 T C 10: 129,337,460 (GRCm39) S236P probably damaging Het
Osgin2 C T 4: 15,998,380 (GRCm39) G414D probably benign Het
Pkd1 G A 17: 24,813,827 (GRCm39) R4097H probably benign Het
Pnkd T A 1: 74,388,968 (GRCm39) L213Q probably null Het
Ppfibp1 A G 6: 146,928,930 (GRCm39) H850R probably benign Het
Ppp6r1 T C 7: 4,646,257 (GRCm39) D148G probably damaging Het
Ptprt A T 2: 162,079,954 (GRCm39) S282T probably damaging Het
Sgsm3 T C 15: 80,894,457 (GRCm39) V536A probably benign Het
Slc22a23 T A 13: 34,387,947 (GRCm39) Q383L probably benign Het
Snx29 T C 16: 11,217,701 (GRCm39) probably null Het
Tmem229b-ps T A 10: 53,351,542 (GRCm39) noncoding transcript Het
Tmod4 A T 3: 95,035,990 (GRCm39) Y317F possibly damaging Het
Trim13 T C 14: 61,843,108 (GRCm39) M375T probably benign Het
Txndc11 A G 16: 10,892,926 (GRCm39) S935P probably damaging Het
Umod T C 7: 119,064,720 (GRCm39) N592D probably benign Het
Vmn2r118 A G 17: 55,917,643 (GRCm39) Y290H probably benign Het
Vps26b A G 9: 26,924,041 (GRCm39) M234T probably damaging Het
Zbtb48 A G 4: 152,104,658 (GRCm39) probably null Het
Zfc3h1 T A 10: 115,252,647 (GRCm39) F1320Y probably benign Het
Zfp784 A T 7: 5,039,039 (GRCm39) probably benign Het
Other mutations in Auh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Auh APN 13 52,992,138 (GRCm39) missense probably damaging 1.00
IGL02108:Auh APN 13 53,043,133 (GRCm39) splice site probably benign
IGL02613:Auh APN 13 53,073,035 (GRCm39) critical splice donor site probably null
PIT4131001:Auh UTSW 13 52,995,046 (GRCm39) missense probably damaging 1.00
R0046:Auh UTSW 13 53,083,421 (GRCm39) splice site probably benign
R0741:Auh UTSW 13 53,083,638 (GRCm39) missense possibly damaging 0.53
R1480:Auh UTSW 13 52,989,532 (GRCm39) missense probably benign 0.00
R1581:Auh UTSW 13 52,989,532 (GRCm39) missense probably benign 0.00
R1609:Auh UTSW 13 52,989,532 (GRCm39) missense probably benign 0.00
R1611:Auh UTSW 13 52,989,532 (GRCm39) missense probably benign 0.00
R1723:Auh UTSW 13 52,989,532 (GRCm39) missense probably benign 0.00
R1724:Auh UTSW 13 52,989,532 (GRCm39) missense probably benign 0.00
R1725:Auh UTSW 13 52,989,532 (GRCm39) missense probably benign 0.00
R1742:Auh UTSW 13 52,989,532 (GRCm39) missense probably benign 0.00
R1883:Auh UTSW 13 52,989,532 (GRCm39) missense probably benign 0.00
R1884:Auh UTSW 13 52,989,532 (GRCm39) missense probably benign 0.00
R1919:Auh UTSW 13 52,989,532 (GRCm39) missense probably benign 0.00
R2022:Auh UTSW 13 52,989,532 (GRCm39) missense probably benign 0.00
R2071:Auh UTSW 13 52,989,532 (GRCm39) missense probably benign 0.00
R2114:Auh UTSW 13 52,989,532 (GRCm39) missense probably benign 0.00
R2147:Auh UTSW 13 52,989,532 (GRCm39) missense probably benign 0.00
R2149:Auh UTSW 13 52,989,532 (GRCm39) missense probably benign 0.00
R2429:Auh UTSW 13 53,073,052 (GRCm39) missense probably damaging 1.00
R2508:Auh UTSW 13 53,052,755 (GRCm39) nonsense probably null
R2960:Auh UTSW 13 52,993,610 (GRCm39) missense probably damaging 1.00
R3787:Auh UTSW 13 53,083,493 (GRCm39) missense possibly damaging 0.95
R4594:Auh UTSW 13 53,067,002 (GRCm39) unclassified probably benign
R4989:Auh UTSW 13 52,995,065 (GRCm39) missense probably damaging 1.00
R5863:Auh UTSW 13 53,052,694 (GRCm39) missense probably benign 0.06
R6041:Auh UTSW 13 53,073,122 (GRCm39) missense possibly damaging 0.71
R6425:Auh UTSW 13 52,995,080 (GRCm39) missense probably damaging 1.00
R6430:Auh UTSW 13 53,083,446 (GRCm39) missense probably benign 0.41
R6434:Auh UTSW 13 53,083,446 (GRCm39) missense probably benign 0.41
R6664:Auh UTSW 13 53,052,703 (GRCm39) missense probably damaging 0.99
R6865:Auh UTSW 13 52,992,165 (GRCm39) missense probably damaging 1.00
R7615:Auh UTSW 13 53,073,049 (GRCm39) missense probably benign 0.00
R8379:Auh UTSW 13 53,063,349 (GRCm39) makesense probably null
R8774:Auh UTSW 13 52,993,631 (GRCm39) missense probably benign 0.21
R8774-TAIL:Auh UTSW 13 52,993,631 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- CGTGTTTTGACCACGGACATTGC -3'
(R):5'- TGTGTGCTCTGATCCAGGCCATTG -3'

Sequencing Primer
(F):5'- CTGAATAAATATGACATGGCGCAC -3'
(R):5'- TGGCCCCATTGTTAGGAGAC -3'
Posted On 2014-04-13