Incidental Mutation 'R2960:Auh'
| ID |
255891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Auh
|
| Ensembl Gene |
ENSMUSG00000021460 |
| Gene Name |
AU RNA binding protein/enoyl-coenzyme A hydratase |
| Synonyms |
W91705 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2960 (G1)
|
| Quality Score |
200 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
52989155-53083717 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52993610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 268
(I268N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021913]
[ENSMUST00000123599]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021913
AA Change: I268N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021913
Gene: ENSMUSG00000021460
AA Change: I268N
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000123599
|
| SMART Domains |
Protein: ENSMUSP00000116179
Gene: ENSMUSG00000021460
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH_1
|
21 |
217 |
1.7e-48 |
PFAM |
|
Pfam:ECH_2
|
25 |
211 |
9.8e-30 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000137064
AA Change: I194N
|
| SMART Domains |
Protein: ENSMUSP00000121852
Gene: ENSMUSG00000021460
AA Change: I194N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH_2
|
1 |
179 |
1.9e-28 |
PFAM |
|
Pfam:ECH_1
|
1 |
236 |
1.1e-51 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl5c |
A |
G |
11: 97,885,902 (GRCm39) |
L33P |
probably damaging |
Het |
| Cimap2 |
A |
G |
4: 106,470,615 (GRCm39) |
S186P |
probably damaging |
Het |
| Defa25 |
A |
T |
8: 21,575,273 (GRCm39) |
H84L |
probably benign |
Het |
| Endou |
T |
C |
15: 97,611,687 (GRCm39) |
Y317C |
probably damaging |
Het |
| Fmn2 |
C |
T |
1: 174,437,385 (GRCm39) |
L1119F |
probably damaging |
Het |
| Glyat |
T |
A |
19: 12,617,214 (GRCm39) |
L22H |
probably damaging |
Het |
| Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
| Grb7 |
C |
T |
11: 98,343,087 (GRCm39) |
T268I |
probably damaging |
Het |
| Ints15 |
A |
T |
5: 143,293,776 (GRCm39) |
F234I |
probably benign |
Het |
| Itfg2 |
G |
A |
6: 128,390,515 (GRCm39) |
A190V |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Mdga2 |
G |
T |
12: 66,676,752 (GRCm39) |
Y513* |
probably null |
Het |
| Med8 |
A |
G |
4: 118,271,944 (GRCm39) |
T222A |
probably damaging |
Het |
| Nup43 |
T |
C |
10: 7,546,713 (GRCm39) |
V111A |
probably benign |
Het |
| Or9s14 |
A |
G |
1: 92,536,050 (GRCm39) |
I164V |
probably benign |
Het |
| Rfx3 |
G |
A |
19: 27,878,211 (GRCm39) |
Q29* |
probably null |
Het |
| Rfx8 |
A |
G |
1: 39,722,112 (GRCm39) |
V291A |
probably damaging |
Het |
| Scnn1a |
A |
G |
6: 125,299,256 (GRCm39) |
Y112C |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tmx3 |
T |
C |
18: 90,551,116 (GRCm39) |
V252A |
probably damaging |
Het |
| Vmn1r216 |
A |
G |
13: 23,284,103 (GRCm39) |
D262G |
probably benign |
Het |
| Vmn1r9 |
A |
G |
6: 57,048,657 (GRCm39) |
D244G |
possibly damaging |
Het |
| Xkr6 |
T |
A |
14: 63,844,586 (GRCm39) |
M203K |
possibly damaging |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
Het |
|
| Other mutations in Auh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
R1515: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 |
|
|
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'- GCTGATGACCTCACTAAAGCAATG -3'
(R):5'- CGCAGTTGAAGCTCAGATGATG -3'
Sequencing Primer
(F):5'- TGTCAAAAGGAACAAGGCTCC -3'
(R):5'- ATGAGTTTAGCATCTCAGCTGC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation