Incidental Mutation 'IGL03297:Adhfe1'
ID |
416138 |
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 # |
IGL03297
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
9618173-9648195 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 9620173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027044]
[ENSMUST00000072079]
[ENSMUST00000130927]
[ENSMUST00000144177]
[ENSMUST00000186467]
|
AlphaFold |
Q8R0N6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027044
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000072079
|
SMART Domains |
Protein: ENSMUSP00000071955 Gene: ENSMUSG00000061024
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
22 |
N/A |
INTRINSIC |
Pfam:RRS1
|
31 |
193 |
3.5e-62 |
PFAM |
low complexity region
|
302 |
337 |
N/A |
INTRINSIC |
low complexity region
|
351 |
365 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130927
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144177
|
SMART Domains |
Protein: ENSMUSP00000116627 Gene: ENSMUSG00000025911
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 benign
Transcript: ENSMUST00000190654
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
G |
A |
4: 86,341,663 (GRCm39) |
G1624S |
probably damaging |
Het |
Ano6 |
C |
A |
15: 95,860,158 (GRCm39) |
T760N |
probably damaging |
Het |
Camsap2 |
T |
C |
1: 136,225,539 (GRCm39) |
M196V |
probably benign |
Het |
Cd209d |
T |
C |
8: 3,928,476 (GRCm39) |
D3G |
possibly damaging |
Het |
Cdh5 |
T |
A |
8: 104,854,831 (GRCm39) |
F253Y |
probably damaging |
Het |
Cnot10 |
T |
C |
9: 114,427,784 (GRCm39) |
E610G |
possibly damaging |
Het |
Cnot4 |
T |
C |
6: 35,001,158 (GRCm39) |
N579S |
probably benign |
Het |
Csmd1 |
G |
T |
8: 16,059,432 (GRCm39) |
S2101* |
probably null |
Het |
Dgkq |
C |
A |
5: 108,798,140 (GRCm39) |
R706L |
probably damaging |
Het |
Gm5422 |
T |
C |
10: 31,125,727 (GRCm39) |
|
noncoding transcript |
Het |
Gpr34 |
A |
G |
X: 13,505,681 (GRCm39) |
Y70C |
probably damaging |
Het |
Herc6 |
T |
A |
6: 57,639,374 (GRCm39) |
L914Q |
probably benign |
Het |
Ifitm6 |
T |
C |
7: 140,595,948 (GRCm39) |
Y115C |
probably damaging |
Het |
Iqcg |
G |
T |
16: 32,856,002 (GRCm39) |
|
probably benign |
Het |
Myo15a |
A |
G |
11: 60,369,967 (GRCm39) |
D909G |
probably damaging |
Het |
Nefl |
A |
G |
14: 68,321,673 (GRCm39) |
T88A |
possibly damaging |
Het |
Nfatc2 |
T |
A |
2: 168,378,138 (GRCm39) |
N509I |
probably damaging |
Het |
Nkd1 |
T |
C |
8: 89,300,902 (GRCm39) |
|
probably benign |
Het |
Npas2 |
T |
C |
1: 39,331,771 (GRCm39) |
V62A |
possibly damaging |
Het |
Oas2 |
T |
G |
5: 120,873,150 (GRCm39) |
D635A |
possibly damaging |
Het |
Obscn |
C |
T |
11: 58,951,712 (GRCm39) |
V4014M |
possibly damaging |
Het |
Ogfr |
C |
A |
2: 180,236,200 (GRCm39) |
H262N |
possibly damaging |
Het |
Or10aa1 |
T |
G |
1: 173,869,683 (GRCm39) |
S56A |
probably benign |
Het |
Or8b49 |
A |
T |
9: 38,505,821 (GRCm39) |
L101F |
probably benign |
Het |
Pa2g4 |
T |
C |
10: 128,399,105 (GRCm39) |
D104G |
probably damaging |
Het |
Parp11 |
T |
C |
6: 127,467,045 (GRCm39) |
|
probably benign |
Het |
Ppp2r5a |
C |
T |
1: 191,086,959 (GRCm39) |
V360I |
probably benign |
Het |
Ptpn13 |
A |
T |
5: 103,688,943 (GRCm39) |
K912I |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,329,202 (GRCm39) |
S938P |
probably benign |
Het |
Slc15a1 |
A |
C |
14: 121,724,096 (GRCm39) |
I170S |
probably damaging |
Het |
Smchd1 |
T |
C |
17: 71,656,695 (GRCm39) |
N1924S |
probably benign |
Het |
Sprr4 |
G |
A |
3: 92,407,731 (GRCm39) |
P24S |
unknown |
Het |
Trim30b |
A |
T |
7: 104,015,102 (GRCm39) |
N95K |
probably benign |
Het |
Tyw1 |
C |
T |
5: 130,369,575 (GRCm39) |
A687V |
probably damaging |
Het |
Vmn2r14 |
T |
A |
5: 109,363,973 (GRCm39) |
I648F |
probably damaging |
Het |
Vmn2r78 |
T |
A |
7: 86,569,969 (GRCm39) |
C162* |
probably null |
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 |
|
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 |
2016-08-02 |