Incidental Mutation 'IGL01693:Akr1b8'
| ID |
104173 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akr1b8
|
| Ensembl Gene |
ENSMUSG00000029762 |
| Gene Name |
aldo-keto reductase family 1, member B8 |
| Synonyms |
Fgfrp, Fgrp |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01693
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
34331081-34345396 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34340271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 145
(M145K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038406]
|
| AlphaFold |
P45377 |
| PDB Structure |
FR-1 PROTEIN/NADPH/ZOPOLRESTAT COMPLEX [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038406
AA Change: M145K
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000040244
Gene: ENSMUSG00000029762
AA Change: M145K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
15 |
294 |
4.1e-62 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133370
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
T |
C |
15: 76,610,167 (GRCm39) |
D943G |
probably null |
Het |
| Arhgap42 |
A |
T |
9: 9,006,507 (GRCm39) |
W630R |
probably damaging |
Het |
| Bbs5 |
T |
A |
2: 69,493,424 (GRCm39) |
S225T |
probably benign |
Het |
| Cacna1f |
A |
T |
X: 7,491,606 (GRCm39) |
N1159Y |
probably damaging |
Het |
| Catsperg1 |
A |
G |
7: 28,884,523 (GRCm39) |
|
probably benign |
Het |
| Cemip2 |
A |
C |
19: 21,779,251 (GRCm39) |
I354L |
probably benign |
Het |
| Cep15 |
T |
C |
14: 12,287,380 (GRCm38) |
L55P |
probably damaging |
Het |
| Cep97 |
A |
T |
16: 55,750,957 (GRCm39) |
W20R |
probably damaging |
Het |
| Cmtm8 |
G |
A |
9: 114,618,773 (GRCm39) |
T160M |
probably damaging |
Het |
| Csf2ra |
A |
G |
19: 61,214,434 (GRCm39) |
S244P |
possibly damaging |
Het |
| Dnah7b |
C |
T |
1: 46,397,307 (GRCm39) |
P3913S |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,944,527 (GRCm39) |
|
probably null |
Het |
| Ezh1 |
C |
T |
11: 101,106,084 (GRCm39) |
M100I |
probably benign |
Het |
| Gadl1 |
C |
A |
9: 115,778,653 (GRCm39) |
P189Q |
probably damaging |
Het |
| Gcnt2 |
G |
A |
13: 41,041,549 (GRCm39) |
S236N |
probably benign |
Het |
| H1f7 |
A |
C |
15: 98,154,262 (GRCm39) |
Y296D |
unknown |
Het |
| Hmcn1 |
T |
A |
1: 150,459,031 (GRCm39) |
D5191V |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,365,415 (GRCm39) |
D4194E |
probably damaging |
Het |
| Ncf2 |
C |
A |
1: 152,700,074 (GRCm39) |
T203K |
probably benign |
Het |
| Or5a1 |
C |
A |
19: 12,097,921 (GRCm39) |
V40L |
probably benign |
Het |
| Pate8 |
G |
A |
9: 36,492,662 (GRCm39) |
T81I |
probably benign |
Het |
| Phf8 |
T |
A |
X: 150,333,871 (GRCm39) |
V113E |
probably damaging |
Het |
| Pkm |
G |
T |
9: 59,577,805 (GRCm39) |
K207N |
probably damaging |
Het |
| Slco1a6 |
G |
T |
6: 142,078,935 (GRCm39) |
S120* |
probably null |
Het |
| Sox10 |
C |
T |
15: 79,040,473 (GRCm39) |
V195M |
possibly damaging |
Het |
| Swt1 |
A |
G |
1: 151,297,855 (GRCm39) |
I24T |
probably benign |
Het |
| Thada |
T |
C |
17: 84,754,072 (GRCm39) |
T300A |
probably benign |
Het |
| Vmn2r17 |
T |
C |
5: 109,600,384 (GRCm39) |
Y561H |
probably damaging |
Het |
|
| Other mutations in Akr1b8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02266:Akr1b8
|
APN |
6 |
34,331,208 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02481:Akr1b8
|
APN |
6 |
34,340,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02483:Akr1b8
|
APN |
6 |
34,340,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03260:Akr1b8
|
APN |
6 |
34,340,394 (GRCm39) |
splice site |
probably benign |
|
|
IGL03337:Akr1b8
|
APN |
6 |
34,331,209 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0310:Akr1b8
|
UTSW |
6 |
34,342,194 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0384:Akr1b8
|
UTSW |
6 |
34,341,265 (GRCm39) |
splice site |
probably benign |
|
|
R4674:Akr1b8
|
UTSW |
6 |
34,333,359 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4696:Akr1b8
|
UTSW |
6 |
34,340,312 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7209:Akr1b8
|
UTSW |
6 |
34,333,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9797:Akr1b8
|
UTSW |
6 |
34,333,278 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9799:Akr1b8
|
UTSW |
6 |
34,333,278 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2014-01-21 |
Incidental Mutation