Incidental Mutation 'R0095:Adhfe1'
| ID |
17376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adhfe1
|
| Ensembl Gene |
ENSMUSG00000025911 |
| Gene Name |
alcohol dehydrogenase, iron containing, 1 |
| Synonyms |
6330565B14Rik |
| MMRRC Submission |
038381-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
R0095 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
9618173-9648195 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9630402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 317
(I317T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027044]
[ENSMUST00000144177]
[ENSMUST00000186467]
|
| AlphaFold |
Q8R0N6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027044
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115480
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144177
AA Change: I317T
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116627
Gene: ENSMUSG00000025911
AA Change: I317T
| 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 |
noncoding transcript
Transcript: ENSMUST00000145176
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186467
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000190654
AA Change: I308T
|
| Meta Mutation Damage Score |
0.8002 |
| Coding Region Coverage |
- 1x: 88.6%
- 3x: 85.1%
- 10x: 74.3%
- 20x: 56.3%
|
| Validation Efficiency |
88% (50/57) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a2 |
C |
T |
11: 61,141,774 (GRCm39) |
G21D |
probably damaging |
Het |
| Alms1 |
C |
A |
6: 85,597,235 (GRCm39) |
T1156N |
possibly damaging |
Het |
| Anxa8 |
G |
A |
14: 33,808,028 (GRCm39) |
A6T |
probably benign |
Het |
| Arhgef4 |
C |
T |
1: 34,771,451 (GRCm39) |
Q86* |
probably null |
Het |
| Atp4a |
T |
A |
7: 30,420,160 (GRCm39) |
I769N |
probably damaging |
Het |
| Cacnb2 |
G |
T |
2: 14,963,586 (GRCm39) |
V61F |
probably damaging |
Het |
| Clcf1 |
T |
G |
19: 4,265,842 (GRCm39) |
|
probably benign |
Het |
| Cmah |
G |
T |
13: 24,620,668 (GRCm39) |
A301S |
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,952,555 (GRCm39) |
W448R |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,283,065 (GRCm39) |
D630E |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,501,788 (GRCm39) |
Y1434N |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,748,679 (GRCm39) |
D137G |
probably damaging |
Het |
| Fer |
A |
T |
17: 64,248,321 (GRCm39) |
E361V |
possibly damaging |
Het |
| Foxp2 |
C |
A |
6: 15,196,976 (GRCm39) |
A6E |
probably damaging |
Het |
| Gpr3 |
T |
A |
4: 132,938,597 (GRCm39) |
D25V |
probably benign |
Het |
| Gstm7 |
A |
T |
3: 107,837,879 (GRCm39) |
|
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,094,073 (GRCm39) |
V332A |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,238,617 (GRCm39) |
Y521* |
probably null |
Het |
| Itk |
T |
C |
11: 46,233,279 (GRCm39) |
D266G |
probably damaging |
Het |
| Kdm1a |
C |
T |
4: 136,278,205 (GRCm39) |
R839H |
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,900,550 (GRCm39) |
|
probably benign |
Het |
| Mmp1a |
G |
A |
9: 7,465,621 (GRCm39) |
G186D |
possibly damaging |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Necab1 |
T |
A |
4: 14,960,027 (GRCm39) |
N307Y |
possibly damaging |
Het |
| Or5p81 |
A |
C |
7: 108,267,252 (GRCm39) |
I210L |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,474,323 (GRCm39) |
F84L |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,049,534 (GRCm39) |
S562P |
probably benign |
Het |
| Rfx8 |
C |
T |
1: 39,724,696 (GRCm39) |
V222M |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,578,417 (GRCm39) |
|
probably benign |
Het |
| Rpl6 |
T |
G |
5: 121,343,902 (GRCm39) |
V115G |
possibly damaging |
Het |
| Sec16a |
A |
T |
2: 26,315,772 (GRCm39) |
|
probably null |
Het |
| Sema3d |
T |
C |
5: 12,613,314 (GRCm39) |
Y464H |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,054,714 (GRCm39) |
N299K |
probably benign |
Het |
| Tecrl |
T |
C |
5: 83,442,417 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,320,969 (GRCm39) |
T1569A |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,382,737 (GRCm39) |
|
probably null |
Het |
| Unc45a |
T |
C |
7: 79,979,291 (GRCm39) |
D567G |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,757,855 (GRCm39) |
Y596C |
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 |
|
IGL02862:Adhfe1
|
APN |
1 |
9,624,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
2013-01-20 |
Incidental Mutation