Incidental Mutation 'R3918:Adhfe1'
| ID |
307482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adhfe1
|
| Ensembl Gene |
ENSMUSG00000025911 |
| Gene Name |
alcohol dehydrogenase, iron containing, 1 |
| Synonyms |
6330565B14Rik |
| MMRRC Submission |
040816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R3918 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
9618173-9648195 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 9646441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 447
(R447H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027044]
[ENSMUST00000144177]
|
| AlphaFold |
Q8R0N6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027044
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121942
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144177
AA Change: R447H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116627
Gene: ENSMUSG00000025911
AA Change: R447H
| 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 |
unknown
Transcript: ENSMUST00000190654
AA Change: R438H
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,766,774 (GRCm39) |
I52T |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,676,515 (GRCm39) |
K72E |
probably benign |
Het |
| Best2 |
T |
G |
8: 85,736,353 (GRCm39) |
D270A |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Col18a1 |
T |
C |
10: 76,889,192 (GRCm39) |
M1721V |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,865,000 (GRCm39) |
T39A |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 65,761,800 (GRCm39) |
M3897L |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Egf |
T |
C |
3: 129,490,509 (GRCm39) |
I395V |
probably null |
Het |
| Fbln5 |
C |
T |
12: 101,717,050 (GRCm39) |
G446D |
probably damaging |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
G |
C |
1: 150,566,361 (GRCm39) |
T2214S |
probably benign |
Het |
| Lef1 |
A |
G |
3: 130,905,290 (GRCm39) |
N57S |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,621,190 (GRCm39) |
S266P |
probably benign |
Het |
| Marveld2 |
T |
C |
13: 100,748,401 (GRCm39) |
Q226R |
probably benign |
Het |
| Mest |
G |
A |
6: 30,742,749 (GRCm39) |
S132N |
probably benign |
Het |
| Mras |
T |
A |
9: 99,293,473 (GRCm39) |
I56F |
probably damaging |
Het |
| Myh13 |
G |
A |
11: 67,220,064 (GRCm39) |
E138K |
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,778,799 (GRCm39) |
T516A |
probably damaging |
Het |
| Ola1 |
A |
G |
2: 72,972,683 (GRCm39) |
V200A |
probably benign |
Het |
| Or5ak24 |
A |
T |
2: 85,261,074 (GRCm39) |
V33D |
possibly damaging |
Het |
| Patj |
C |
A |
4: 98,344,455 (GRCm39) |
P20H |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,101 (GRCm39) |
W416R |
probably benign |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Pola1 |
C |
A |
X: 92,505,078 (GRCm39) |
R1313L |
probably benign |
Het |
| Ppp1r36 |
G |
A |
12: 76,464,431 (GRCm39) |
V10I |
probably benign |
Het |
| Rnf150 |
C |
T |
8: 83,591,090 (GRCm39) |
T151I |
probably benign |
Het |
| Tank |
G |
T |
2: 61,474,130 (GRCm39) |
|
probably null |
Het |
| Tmprss4 |
C |
T |
9: 45,091,964 (GRCm39) |
V174M |
probably benign |
Het |
| Trappc13 |
T |
C |
13: 104,297,590 (GRCm39) |
T105A |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,929,838 (GRCm39) |
S1066P |
probably damaging |
Het |
| Txndc9 |
G |
A |
1: 38,033,131 (GRCm39) |
Q84* |
probably null |
Het |
| Ubr3 |
A |
T |
2: 69,846,474 (GRCm39) |
|
probably null |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
| Zfp51 |
A |
G |
17: 21,683,702 (GRCm39) |
K106E |
probably benign |
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 |
|
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 |
|
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'- TCAGGTATATTGCCCTGTAAATTGTGG -3'
(R):5'- ACCAGCAATAGGTGAGTTAAGTGTG -3'
Sequencing Primer
(F):5'- CCCTGTAAATTGTGGTAGTGGTAC -3'
(R):5'- TGTGGAGATAAGACGGCAACATC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation