Incidental Mutation 'R0590:Adhfe1'
ID |
55907 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adhfe1
|
Ensembl Gene |
ENSMUSG00000025911 |
Gene Name |
alcohol dehydrogenase, iron containing, 1 |
Synonyms |
6330565B14Rik |
MMRRC Submission |
038780-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R0590 (G1)
|
Quality Score |
85 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
9618173-9648195 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 9618378 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116627
(fasta)
|
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 null
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
|
Meta Mutation Damage Score |
0.9492 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.7%
|
Validation Efficiency |
100% (47/47) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat2 |
C |
T |
4: 49,383,273 (GRCm39) |
M93I |
probably benign |
Het |
Adamts16 |
T |
C |
13: 70,949,073 (GRCm39) |
D196G |
probably benign |
Het |
AI661453 |
A |
G |
17: 47,777,999 (GRCm39) |
|
probably benign |
Het |
Apc |
G |
T |
18: 34,449,283 (GRCm39) |
E2026* |
probably null |
Het |
Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
Cad |
T |
C |
5: 31,219,575 (GRCm39) |
S688P |
probably damaging |
Het |
Ccdc191 |
C |
T |
16: 43,751,704 (GRCm39) |
R345* |
probably null |
Het |
Dcaf13 |
T |
A |
15: 39,008,480 (GRCm39) |
|
probably benign |
Het |
Drc1 |
A |
G |
5: 30,520,480 (GRCm39) |
D607G |
probably benign |
Het |
Fhip1a |
T |
C |
3: 85,579,683 (GRCm39) |
R841G |
probably benign |
Het |
Gli1 |
G |
T |
10: 127,167,432 (GRCm39) |
A607E |
possibly damaging |
Het |
Gls |
G |
A |
1: 52,251,534 (GRCm39) |
|
probably benign |
Het |
Gria1 |
A |
T |
11: 57,180,235 (GRCm39) |
Q728H |
probably damaging |
Het |
Hcrtr1 |
A |
G |
4: 130,029,487 (GRCm39) |
L198P |
probably damaging |
Het |
Ifngr1 |
T |
A |
10: 19,479,690 (GRCm39) |
|
probably benign |
Het |
Ipo5 |
T |
C |
14: 121,181,769 (GRCm39) |
V954A |
possibly damaging |
Het |
Kcnh5 |
G |
T |
12: 75,012,035 (GRCm39) |
A628D |
probably damaging |
Het |
Kif14 |
T |
C |
1: 136,410,210 (GRCm39) |
S646P |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,935,966 (GRCm39) |
S133P |
probably damaging |
Het |
Neb |
T |
C |
2: 52,027,302 (GRCm39) |
M7143V |
probably damaging |
Het |
Nelfa |
G |
A |
5: 34,059,169 (GRCm39) |
P229S |
probably damaging |
Het |
Nfatc2 |
T |
C |
2: 168,413,119 (GRCm39) |
T169A |
probably damaging |
Het |
Nr1h4 |
A |
G |
10: 89,292,429 (GRCm39) |
Y398H |
probably damaging |
Het |
Nrcam |
A |
G |
12: 44,610,815 (GRCm39) |
E511G |
probably damaging |
Het |
Ocstamp |
T |
A |
2: 165,239,671 (GRCm39) |
R172W |
probably damaging |
Het |
Or10ag60 |
A |
G |
2: 87,438,338 (GRCm39) |
E202G |
probably damaging |
Het |
Or8d1 |
T |
A |
9: 38,766,766 (GRCm39) |
M136K |
probably damaging |
Het |
Or8g19 |
T |
C |
9: 39,056,017 (GRCm39) |
V207A |
probably benign |
Het |
Phf14 |
G |
A |
6: 11,961,577 (GRCm39) |
V405I |
possibly damaging |
Het |
Plk5 |
G |
A |
10: 80,196,057 (GRCm39) |
R238H |
probably damaging |
Het |
Pole |
A |
G |
5: 110,465,792 (GRCm39) |
E1240G |
probably benign |
Het |
Prdm15 |
A |
G |
16: 97,598,961 (GRCm39) |
I899T |
possibly damaging |
Het |
Psip1 |
T |
C |
4: 83,376,381 (GRCm39) |
N486S |
probably benign |
Het |
Rlf |
A |
G |
4: 121,028,030 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 88,997,759 (GRCm39) |
S255P |
probably damaging |
Het |
Rusf1 |
A |
G |
7: 127,896,642 (GRCm39) |
L134P |
probably damaging |
Het |
Sema6c |
A |
G |
3: 95,079,934 (GRCm39) |
K711E |
probably damaging |
Het |
Slc4a10 |
A |
T |
2: 62,021,237 (GRCm39) |
|
probably benign |
Het |
Trim36 |
T |
G |
18: 46,305,643 (GRCm39) |
S435R |
probably benign |
Het |
Ucp1 |
A |
G |
8: 84,018,232 (GRCm39) |
|
probably benign |
Het |
Vmn1r17 |
T |
C |
6: 57,337,999 (GRCm39) |
Y122C |
probably benign |
Het |
Vmn1r23 |
A |
G |
6: 57,903,349 (GRCm39) |
V143A |
probably benign |
Het |
Wdfy4 |
T |
A |
14: 32,763,131 (GRCm39) |
Q2166L |
probably benign |
Het |
Zc3h7b |
C |
T |
15: 81,661,199 (GRCm39) |
T346M |
possibly damaging |
Het |
Zfhx4 |
T |
A |
3: 5,467,693 (GRCm39) |
V2617D |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCAGAAGTTTTCCTCCTGGAGTC -3'
(R):5'- CCTCATTGGATACTTGAGCAGCCC -3'
Sequencing Primer
(F):5'- TTCCTCCTGGAGTCCAGCAG -3'
(R):5'- AGAGCTGTTTCTGCACATAGACC -3'
|
Posted On |
2013-07-11 |