Incidental Mutation 'R6430:Auh'
| ID |
518498 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Auh
|
| Ensembl Gene |
ENSMUSG00000021460 |
| Gene Name |
AU RNA binding protein/enoyl-coenzyme A hydratase |
| Synonyms |
W91705 |
| MMRRC Submission |
044568-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6430 (G1)
|
| Quality Score |
83.0076 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
52989155-53083717 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 53083446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 17
(G17C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021913]
[ENSMUST00000110031]
[ENSMUST00000119311]
[ENSMUST00000120535]
[ENSMUST00000123599]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021913
|
| SMART Domains |
Protein: ENSMUSP00000021913
Gene: ENSMUSG00000021460
| 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: ENSMUST00000110031
|
| SMART Domains |
Protein: ENSMUSP00000105658
Gene: ENSMUSG00000021460
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ECH
|
57 |
120 |
5.7e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119311
|
| SMART Domains |
Protein: ENSMUSP00000113659
Gene: ENSMUSG00000021460
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ECH_1
|
59 |
115 |
2.9e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120535
|
| SMART Domains |
Protein: ENSMUSP00000112427
Gene: ENSMUSG00000021460
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ECH_1
|
59 |
142 |
1.3e-15 |
PFAM |
|
Pfam:ECH_2
|
64 |
139 |
3.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123599
AA Change: G17C
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000116179
Gene: ENSMUSG00000021460
AA Change: G17C
| 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 |
noncoding transcript
Transcript: ENSMUST00000128380
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151469
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (47/47) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI661453 |
C |
A |
17: 47,777,722 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,622,125 (GRCm39) |
L1513Q |
probably damaging |
Het |
| Ap2a1 |
C |
A |
7: 44,553,253 (GRCm39) |
V676L |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,261,575 (GRCm39) |
V477A |
probably benign |
Het |
| B3gnt7 |
T |
C |
1: 86,233,839 (GRCm39) |
F362L |
possibly damaging |
Het |
| Cd207 |
C |
T |
6: 83,652,869 (GRCm39) |
R87H |
probably benign |
Het |
| Cdyl |
A |
G |
13: 36,055,589 (GRCm39) |
K503R |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,770,419 (GRCm39) |
S1824P |
probably damaging |
Het |
| Cmas |
T |
A |
6: 142,713,650 (GRCm39) |
M225K |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,081,153 (GRCm39) |
S396P |
possibly damaging |
Het |
| Epg5 |
T |
C |
18: 78,019,100 (GRCm39) |
S958P |
probably damaging |
Het |
| Espnl |
T |
C |
1: 91,249,970 (GRCm39) |
L39P |
possibly damaging |
Het |
| Fcsk |
A |
G |
8: 111,610,748 (GRCm39) |
V915A |
probably benign |
Het |
| Flacc1 |
T |
A |
1: 58,717,448 (GRCm39) |
K154N |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,544,345 (GRCm39) |
N438D |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,266,707 (GRCm39) |
C1932R |
probably damaging |
Het |
| Jmjd1c |
C |
T |
10: 67,059,939 (GRCm39) |
T662I |
possibly damaging |
Het |
| Kcng4 |
A |
G |
8: 120,359,789 (GRCm39) |
S196P |
probably damaging |
Het |
| Kcnh7 |
T |
G |
2: 62,680,876 (GRCm39) |
H237P |
probably benign |
Het |
| Klhl38 |
T |
C |
15: 58,185,707 (GRCm39) |
T341A |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Man2c1 |
T |
C |
9: 57,038,517 (GRCm39) |
V59A |
possibly damaging |
Het |
| Nr2c1 |
A |
T |
10: 94,031,203 (GRCm39) |
H588L |
possibly damaging |
Het |
| Or14a259 |
A |
T |
7: 86,013,181 (GRCm39) |
Y121* |
probably null |
Het |
| Or2j3 |
T |
C |
17: 38,616,249 (GRCm39) |
I34M |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,409,620 (GRCm39) |
E494G |
probably damaging |
Het |
| Per1 |
T |
C |
11: 68,995,122 (GRCm39) |
L638S |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,306,261 (GRCm39) |
E603G |
probably benign |
Het |
| Prss12 |
A |
T |
3: 123,273,243 (GRCm39) |
S280C |
probably damaging |
Het |
| Pudp |
A |
G |
18: 50,701,307 (GRCm39) |
I142T |
probably benign |
Het |
| Rabl6 |
A |
T |
2: 25,474,849 (GRCm39) |
N620K |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,039,809 (GRCm39) |
C837S |
probably null |
Het |
| Slc16a7 |
A |
G |
10: 125,066,887 (GRCm39) |
S251P |
probably damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,897,083 (GRCm39) |
I195V |
probably benign |
Het |
| Slc9a4 |
A |
T |
1: 40,640,014 (GRCm39) |
R269* |
probably null |
Het |
| Slco6c1 |
T |
A |
1: 97,003,699 (GRCm39) |
Q466L |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,359,235 (GRCm39) |
N953S |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,061,329 (GRCm39) |
V527A |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,179,947 (GRCm39) |
Y808C |
probably damaging |
Het |
| Tmem145 |
T |
C |
7: 25,008,463 (GRCm39) |
L289P |
possibly damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,212 (GRCm39) |
V389A |
probably benign |
Het |
| Vmn1r3 |
G |
A |
4: 3,184,971 (GRCm39) |
T112I |
probably benign |
Het |
| Vps11 |
C |
A |
9: 44,272,847 (GRCm39) |
A28S |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,374,945 (GRCm39) |
S802T |
probably benign |
Het |
| Zmynd10 |
A |
T |
9: 107,425,911 (GRCm39) |
K82* |
probably null |
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 |
|
|
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 |
|
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'- TACAACTCTCGCACTGACG -3'
(R):5'- AACATACAACATGGCGGCG -3'
Sequencing Primer
(F):5'- ACTGACGCCTGGGGTAG -3'
(R):5'- CCTTGAGAACGGTTGGCGTC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation