Incidental Mutation 'IGL03258:Akr1c6'
| ID |
414720 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akr1c6
|
| Ensembl Gene |
ENSMUSG00000021210 |
| Gene Name |
aldo-keto reductase family 1, member C6 |
| Synonyms |
estradiol 17-beta-dehydrogenase (A-specific), Hsd17b5, 3alpha-HSD, Akr1c1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL03258
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
4484354-4507529 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 4486408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 72
(G72C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021630]
[ENSMUST00000156277]
[ENSMUST00000220941]
|
| AlphaFold |
P70694 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021630
AA Change: G72C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021630
Gene: ENSMUSG00000021210
AA Change: G72C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
2.2e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128695
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156277
AA Change: G19C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117624
Gene: ENSMUSG00000021210
AA Change: G19C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
1 |
173 |
3e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220941
AA Change: G72C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,931,210 (GRCm39) |
|
probably benign |
Het |
| Adam1b |
A |
G |
5: 121,639,447 (GRCm39) |
S533P |
possibly damaging |
Het |
| Carf |
C |
T |
1: 60,148,388 (GRCm39) |
T28I |
possibly damaging |
Het |
| Cog1 |
G |
A |
11: 113,545,919 (GRCm39) |
W398* |
probably null |
Het |
| Dmpk |
A |
G |
7: 18,826,131 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
T |
C |
18: 50,053,960 (GRCm39) |
V2534A |
probably damaging |
Het |
| Fam78b |
A |
T |
1: 166,906,323 (GRCm39) |
T161S |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,969,215 (GRCm39) |
T1161S |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,830,085 (GRCm39) |
D710V |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,599,095 (GRCm39) |
I122V |
probably benign |
Het |
| Ifi211 |
A |
T |
1: 173,733,098 (GRCm39) |
C188S |
probably benign |
Het |
| Lamc3 |
A |
C |
2: 31,777,695 (GRCm39) |
S114R |
probably damaging |
Het |
| Lrrc57 |
C |
T |
2: 120,435,703 (GRCm39) |
A239T |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,058,887 (GRCm39) |
Y707H |
probably damaging |
Het |
| Ms4a6b |
T |
G |
19: 11,499,072 (GRCm39) |
L62R |
probably damaging |
Het |
| Mtmr4 |
A |
T |
11: 87,502,829 (GRCm39) |
H961L |
possibly damaging |
Het |
| Myrip |
A |
G |
9: 120,270,418 (GRCm39) |
N556S |
probably benign |
Het |
| Osgep |
T |
C |
14: 51,155,346 (GRCm39) |
T71A |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,411,371 (GRCm39) |
T887A |
probably benign |
Het |
| Pwwp2a |
T |
A |
11: 43,595,392 (GRCm39) |
F186I |
probably benign |
Het |
| Serpina1b |
G |
T |
12: 103,696,655 (GRCm39) |
S251R |
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,467,936 (GRCm39) |
|
probably null |
Het |
| Slc24a5 |
G |
T |
2: 124,922,625 (GRCm39) |
|
probably null |
Het |
| Slc25a17 |
A |
G |
15: 81,213,243 (GRCm39) |
|
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 75,986,386 (GRCm39) |
V98A |
possibly damaging |
Het |
| Susd1 |
A |
T |
4: 59,379,655 (GRCm39) |
I324N |
possibly damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,566,773 (GRCm39) |
L772P |
probably damaging |
Het |
|
| Other mutations in Akr1c6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Akr1c6
|
APN |
13 |
4,498,977 (GRCm39) |
splice site |
probably benign |
|
|
IGL01838:Akr1c6
|
APN |
13 |
4,499,035 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02318:Akr1c6
|
APN |
13 |
4,488,496 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02986:Akr1c6
|
APN |
13 |
4,486,414 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL03168:Akr1c6
|
APN |
13 |
4,486,280 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03190:Akr1c6
|
APN |
13 |
4,496,412 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0940:Akr1c6
|
UTSW |
13 |
4,486,372 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1442:Akr1c6
|
UTSW |
13 |
4,507,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Akr1c6
|
UTSW |
13 |
4,496,363 (GRCm39) |
missense |
probably benign |
|
|
R1937:Akr1c6
|
UTSW |
13 |
4,496,383 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2392:Akr1c6
|
UTSW |
13 |
4,484,477 (GRCm39) |
splice site |
probably null |
|
|
R2398:Akr1c6
|
UTSW |
13 |
4,499,035 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4655:Akr1c6
|
UTSW |
13 |
4,499,428 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4761:Akr1c6
|
UTSW |
13 |
4,497,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4913:Akr1c6
|
UTSW |
13 |
4,504,524 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4923:Akr1c6
|
UTSW |
13 |
4,504,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Akr1c6
|
UTSW |
13 |
4,488,608 (GRCm39) |
splice site |
probably null |
|
|
R5255:Akr1c6
|
UTSW |
13 |
4,497,018 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5452:Akr1c6
|
UTSW |
13 |
4,504,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5660:Akr1c6
|
UTSW |
13 |
4,499,053 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6242:Akr1c6
|
UTSW |
13 |
4,486,361 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6323:Akr1c6
|
UTSW |
13 |
4,497,017 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6599:Akr1c6
|
UTSW |
13 |
4,499,318 (GRCm39) |
splice site |
probably null |
|
|
R6847:Akr1c6
|
UTSW |
13 |
4,488,497 (GRCm39) |
nonsense |
probably null |
|
|
R6989:Akr1c6
|
UTSW |
13 |
4,499,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7003:Akr1c6
|
UTSW |
13 |
4,504,514 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7251:Akr1c6
|
UTSW |
13 |
4,497,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Akr1c6
|
UTSW |
13 |
4,486,354 (GRCm39) |
missense |
probably benign |
|
|
R8257:Akr1c6
|
UTSW |
13 |
4,488,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8539:Akr1c6
|
UTSW |
13 |
4,484,474 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8705:Akr1c6
|
UTSW |
13 |
4,484,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8791:Akr1c6
|
UTSW |
13 |
4,499,373 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8833:Akr1c6
|
UTSW |
13 |
4,496,377 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
X0062:Akr1c6
|
UTSW |
13 |
4,488,534 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2016-08-02 |
Incidental Mutation