Incidental Mutation 'IGL01353:Adhfe1'
ID |
75443 |
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: 0.179)
|
Stock # |
IGL01353
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
9618173-9648195 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 9637088 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 413
(N413K)
|
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 |
probably benign
Transcript: ENSMUST00000144177
AA Change: N413K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116627 Gene: ENSMUSG00000025911 AA Change: N413K
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: N404K
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
T |
11: 94,242,934 (GRCm39) |
V1304E |
possibly damaging |
Het |
Acr |
T |
C |
15: 89,453,695 (GRCm39) |
L78P |
probably damaging |
Het |
Adamts12 |
T |
C |
15: 11,292,091 (GRCm39) |
|
probably benign |
Het |
Adgrb2 |
T |
C |
4: 129,906,093 (GRCm39) |
S872P |
probably damaging |
Het |
Apoh |
T |
A |
11: 108,288,211 (GRCm39) |
C110S |
probably damaging |
Het |
Arhgap11a |
A |
G |
2: 113,663,869 (GRCm39) |
F805L |
probably damaging |
Het |
Bin3 |
C |
T |
14: 70,372,275 (GRCm39) |
L191F |
possibly damaging |
Het |
Col3a1 |
A |
G |
1: 45,372,798 (GRCm39) |
|
probably benign |
Het |
Dapp1 |
T |
C |
3: 137,667,241 (GRCm39) |
K107R |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,233,418 (GRCm39) |
V259A |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,150,439 (GRCm39) |
M775V |
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,971,397 (GRCm39) |
L1597P |
probably damaging |
Het |
Elfn2 |
G |
A |
15: 78,556,618 (GRCm39) |
A643V |
possibly damaging |
Het |
Epha6 |
T |
C |
16: 60,245,258 (GRCm39) |
T314A |
probably damaging |
Het |
Fn1 |
C |
A |
1: 71,626,098 (GRCm39) |
W2237L |
probably damaging |
Het |
Foxp4 |
T |
A |
17: 48,199,078 (GRCm39) |
D97V |
probably damaging |
Het |
Kcnb2 |
C |
A |
1: 15,781,048 (GRCm39) |
T640K |
probably benign |
Het |
Lypd10 |
G |
T |
7: 24,413,662 (GRCm39) |
S226I |
probably damaging |
Het |
Miga2 |
G |
A |
2: 30,261,245 (GRCm39) |
|
probably null |
Het |
Nacad |
T |
A |
11: 6,550,530 (GRCm39) |
Q887L |
possibly damaging |
Het |
Or2m13 |
C |
T |
16: 19,226,333 (GRCm39) |
M145I |
probably benign |
Het |
Or4d1 |
T |
C |
11: 87,804,998 (GRCm39) |
I245V |
probably benign |
Het |
Or7e173 |
T |
C |
9: 19,938,343 (GRCm39) |
N297S |
probably damaging |
Het |
Or8k24 |
A |
T |
2: 86,216,365 (GRCm39) |
Y132* |
probably null |
Het |
Otub2 |
A |
T |
12: 103,370,581 (GRCm39) |
M288L |
probably benign |
Het |
Otud4 |
A |
G |
8: 80,391,650 (GRCm39) |
S432G |
probably benign |
Het |
Pcca |
G |
A |
14: 122,820,029 (GRCm39) |
V58I |
probably damaging |
Het |
Pdpr |
T |
A |
8: 111,847,910 (GRCm39) |
|
probably null |
Het |
Pinx1 |
C |
A |
14: 64,103,564 (GRCm39) |
Q48K |
probably benign |
Het |
Pkd1l2 |
G |
T |
8: 117,784,182 (GRCm39) |
S698R |
probably benign |
Het |
Psg29 |
A |
G |
7: 16,938,938 (GRCm39) |
R71G |
possibly damaging |
Het |
Psmd3 |
T |
A |
11: 98,581,426 (GRCm39) |
V271E |
probably benign |
Het |
Smarcc1 |
A |
G |
9: 109,964,734 (GRCm39) |
N97S |
probably benign |
Het |
Sulf2 |
C |
T |
2: 165,929,015 (GRCm39) |
G319S |
probably damaging |
Het |
Tmem67 |
C |
A |
4: 12,079,895 (GRCm39) |
C132F |
probably damaging |
Het |
Ttll7 |
T |
C |
3: 146,667,474 (GRCm39) |
L780P |
probably damaging |
Het |
Vmn1r223 |
A |
G |
13: 23,433,426 (GRCm39) |
T7A |
unknown |
Het |
Vmn1r76 |
T |
G |
7: 11,664,737 (GRCm39) |
H159P |
probably damaging |
Het |
Vnn1 |
G |
A |
10: 23,776,738 (GRCm39) |
C363Y |
probably damaging |
Het |
Wdr64 |
T |
G |
1: 175,559,151 (GRCm39) |
L305V |
probably damaging |
Het |
Zkscan4 |
T |
C |
13: 21,668,518 (GRCm39) |
L323P |
probably damaging |
Het |
Zscan10 |
A |
T |
17: 23,828,574 (GRCm39) |
H295L |
probably damaging |
Het |
|
Other mutations in Adhfe1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-10-07 |