Incidental Mutation 'IGL02862:Adhfe1'
| ID |
362191 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adhfe1
|
| Ensembl Gene |
ENSMUSG00000025911 |
| Gene Name |
alcohol dehydrogenase, iron containing, 1 |
| Synonyms |
6330565B14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
IGL02862
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
9618173-9648195 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9624036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 170
(L170P)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027044]
[ENSMUST00000130927]
[ENSMUST00000144177]
[ENSMUST00000186467]
|
| AlphaFold |
Q8R0N6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027044
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130927
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144177
AA Change: L179P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116627
Gene: ENSMUSG00000025911
AA Change: L179P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fe-ADH
|
50 |
454 |
2.1e-105 |
PFAM |
|
Pfam:Fe-ADH_2
|
53 |
155 |
6.5e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186467
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190654
AA Change: L170P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
G |
7: 28,611,659 (GRCm39) |
|
probably benign |
Het |
| Adprh |
C |
T |
16: 38,266,396 (GRCm39) |
V249I |
probably benign |
Het |
| Akr1e1 |
T |
C |
13: 4,659,092 (GRCm39) |
T11A |
possibly damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,347,306 (GRCm39) |
E668G |
probably damaging |
Het |
| Ccdc163 |
G |
A |
4: 116,569,910 (GRCm39) |
|
probably null |
Het |
| Egfr |
A |
T |
11: 16,833,562 (GRCm39) |
Y610F |
probably benign |
Het |
| Ercc3 |
T |
C |
18: 32,376,255 (GRCm39) |
|
probably null |
Het |
| Fasn |
G |
T |
11: 120,709,805 (GRCm39) |
H417Q |
possibly damaging |
Het |
| Gjd2 |
A |
G |
2: 113,843,624 (GRCm39) |
|
probably benign |
Het |
| Grip2 |
C |
T |
6: 91,765,085 (GRCm39) |
R59H |
probably damaging |
Het |
| H2bc11 |
C |
T |
13: 22,227,515 (GRCm39) |
S39L |
possibly damaging |
Het |
| Ighv1-43 |
A |
G |
12: 114,909,859 (GRCm39) |
V21A |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,697,466 (GRCm39) |
G1368D |
probably damaging |
Het |
| Mogs |
G |
T |
6: 83,092,871 (GRCm39) |
G104C |
probably damaging |
Het |
| Nfix |
T |
A |
8: 85,440,475 (GRCm39) |
T472S |
probably benign |
Het |
| Or5m9 |
T |
C |
2: 85,877,648 (GRCm39) |
V274A |
probably benign |
Het |
| Ovch2 |
A |
T |
7: 107,394,138 (GRCm39) |
V105E |
probably damaging |
Het |
| Pex1 |
G |
T |
5: 3,655,424 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Prl7a1 |
T |
C |
13: 27,823,872 (GRCm39) |
T70A |
probably benign |
Het |
| Shmt2 |
C |
T |
10: 127,354,743 (GRCm39) |
R311Q |
probably benign |
Het |
| St3gal4 |
A |
G |
9: 34,963,543 (GRCm39) |
I255T |
probably benign |
Het |
| Taf8 |
C |
T |
17: 47,805,339 (GRCm39) |
A187T |
probably damaging |
Het |
| Tm6sf1 |
T |
A |
7: 81,520,504 (GRCm39) |
V62D |
probably damaging |
Het |
| Trpm5 |
A |
T |
7: 142,636,262 (GRCm39) |
W537R |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,831,867 (GRCm39) |
L621H |
probably damaging |
Het |
|
| Other mutations in Adhfe1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01353:Adhfe1
|
APN |
1 |
9,637,088 (GRCm39) |
missense |
probably benign |
|
|
IGL01735:Adhfe1
|
APN |
1 |
9,618,373 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02891:Adhfe1
|
APN |
1 |
9,628,396 (GRCm39) |
missense |
probably benign |
|
|
IGL03198:Adhfe1
|
APN |
1 |
9,620,177 (GRCm39) |
splice site |
probably benign |
|
|
IGL03297:Adhfe1
|
APN |
1 |
9,620,173 (GRCm39) |
splice site |
probably benign |
|
|
R0095:Adhfe1
|
UTSW |
1 |
9,630,402 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0180:Adhfe1
|
UTSW |
1 |
9,634,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0347:Adhfe1
|
UTSW |
1 |
9,623,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0590:Adhfe1
|
UTSW |
1 |
9,618,378 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1509:Adhfe1
|
UTSW |
1 |
9,623,671 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1606:Adhfe1
|
UTSW |
1 |
9,623,698 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1720:Adhfe1
|
UTSW |
1 |
9,637,125 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2048:Adhfe1
|
UTSW |
1 |
9,633,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3918:Adhfe1
|
UTSW |
1 |
9,646,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4375:Adhfe1
|
UTSW |
1 |
9,631,853 (GRCm39) |
intron |
probably benign |
|
|
R4576:Adhfe1
|
UTSW |
1 |
9,623,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:Adhfe1
|
UTSW |
1 |
9,620,803 (GRCm39) |
intron |
probably benign |
|
|
R4724:Adhfe1
|
UTSW |
1 |
9,646,475 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4760:Adhfe1
|
UTSW |
1 |
9,633,748 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4859:Adhfe1
|
UTSW |
1 |
9,628,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Adhfe1
|
UTSW |
1 |
9,637,029 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4970:Adhfe1
|
UTSW |
1 |
9,628,463 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5087:Adhfe1
|
UTSW |
1 |
9,631,851 (GRCm39) |
intron |
probably benign |
|
|
R6146:Adhfe1
|
UTSW |
1 |
9,623,943 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7013:Adhfe1
|
UTSW |
1 |
9,620,816 (GRCm39) |
intron |
probably benign |
|
|
R7084:Adhfe1
|
UTSW |
1 |
9,637,030 (GRCm39) |
missense |
probably benign |
|
|
R8024:Adhfe1
|
UTSW |
1 |
9,634,080 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8258:Adhfe1
|
UTSW |
1 |
9,628,417 (GRCm39) |
missense |
probably null |
0.00 |
|
R8259:Adhfe1
|
UTSW |
1 |
9,628,417 (GRCm39) |
missense |
probably null |
0.00 |
|
R8742:Adhfe1
|
UTSW |
1 |
9,630,401 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9149:Adhfe1
|
UTSW |
1 |
9,627,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9210:Adhfe1
|
UTSW |
1 |
9,637,036 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9212:Adhfe1
|
UTSW |
1 |
9,637,036 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9729:Adhfe1
|
UTSW |
1 |
9,623,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation