Incidental Mutation 'IGL02986:Akr1c6'
| ID |
406726 |
| 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: 0.056)
|
| Stock # |
IGL02986
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
4484354-4507529 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 4486414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 74
(V74L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021630]
[ENSMUST00000156277]
[ENSMUST00000220941]
|
| AlphaFold |
P70694 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021630
AA Change: V74L
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000021630
Gene: ENSMUSG00000021210
AA Change: V74L
| 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 benign
Transcript: ENSMUST00000156277
AA Change: V21L
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117624
Gene: ENSMUSG00000021210
AA Change: V21L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
1 |
173 |
3e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220941
AA Change: V74L
PolyPhen 2
Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,263,311 (GRCm39) |
V264A |
possibly damaging |
Het |
| Atp10a |
T |
G |
7: 58,478,469 (GRCm39) |
V1504G |
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,641,690 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
A |
T |
9: 108,718,454 (GRCm39) |
|
probably null |
Het |
| Coro1b |
T |
C |
19: 4,199,470 (GRCm39) |
V43A |
possibly damaging |
Het |
| Dab1 |
A |
G |
4: 104,336,418 (GRCm39) |
T5A |
probably benign |
Het |
| Dennd5a |
C |
T |
7: 109,534,731 (GRCm39) |
A47T |
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,150,399 (GRCm39) |
T69A |
possibly damaging |
Het |
| Dhx37 |
G |
A |
5: 125,496,379 (GRCm39) |
P721L |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,016,495 (GRCm39) |
N641D |
probably benign |
Het |
| Espnl |
A |
T |
1: 91,272,572 (GRCm39) |
Q600L |
probably benign |
Het |
| Esyt1 |
A |
G |
10: 128,352,626 (GRCm39) |
V693A |
probably damaging |
Het |
| Fscn2 |
A |
G |
11: 120,258,176 (GRCm39) |
D366G |
possibly damaging |
Het |
| Gcsam |
C |
A |
16: 45,440,366 (GRCm39) |
F136L |
probably benign |
Het |
| Gm10643 |
A |
T |
8: 84,790,887 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
A |
T |
19: 56,299,624 (GRCm39) |
D174V |
probably benign |
Het |
| Hgfac |
T |
C |
5: 35,201,207 (GRCm39) |
V210A |
probably benign |
Het |
| Hipk3 |
T |
C |
2: 104,264,086 (GRCm39) |
D804G |
probably damaging |
Het |
| L3mbtl1 |
T |
C |
2: 162,812,225 (GRCm39) |
W757R |
probably damaging |
Het |
| Lrrfip2 |
A |
G |
9: 110,990,461 (GRCm39) |
|
probably null |
Het |
| Ly75 |
T |
C |
2: 60,138,535 (GRCm39) |
D1444G |
probably damaging |
Het |
| Mars1 |
A |
G |
10: 127,133,438 (GRCm39) |
V765A |
probably benign |
Het |
| Med1 |
A |
G |
11: 98,047,086 (GRCm39) |
|
probably benign |
Het |
| Msln |
G |
A |
17: 25,971,907 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,197,645 (GRCm39) |
|
probably null |
Het |
| Or1p1c |
T |
G |
11: 74,160,928 (GRCm39) |
F238V |
possibly damaging |
Het |
| Or7e173 |
A |
T |
9: 19,939,007 (GRCm39) |
F76I |
probably benign |
Het |
| Otop2 |
T |
A |
11: 115,220,393 (GRCm39) |
M411K |
probably benign |
Het |
| Picalm |
A |
G |
7: 89,856,793 (GRCm39) |
I649M |
probably benign |
Het |
| Plekha8 |
T |
C |
6: 54,606,851 (GRCm39) |
L382P |
probably damaging |
Het |
| Pspn |
A |
G |
17: 57,306,853 (GRCm39) |
|
probably benign |
Het |
| Rnf215 |
A |
G |
11: 4,089,793 (GRCm39) |
T269A |
probably damaging |
Het |
| Rps6kc1 |
A |
T |
1: 190,566,258 (GRCm39) |
L329Q |
probably damaging |
Het |
| Srms |
T |
A |
2: 180,854,290 (GRCm39) |
R92S |
possibly damaging |
Het |
| Ssxb10 |
C |
A |
X: 8,201,845 (GRCm39) |
S157* |
probably null |
Het |
| Tfap2c |
T |
C |
2: 172,399,171 (GRCm39) |
S448P |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,843,352 (GRCm39) |
N855D |
probably benign |
Het |
| Timeless |
A |
C |
10: 128,085,629 (GRCm39) |
D887A |
possibly damaging |
Het |
| Tyms |
T |
C |
5: 30,266,997 (GRCm39) |
Y169C |
probably damaging |
Het |
| Unc45b |
T |
A |
11: 82,808,005 (GRCm39) |
C207S |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,611,147 (GRCm39) |
F1390S |
probably damaging |
Het |
| Vmn2r53 |
A |
T |
7: 12,315,393 (GRCm39) |
|
probably benign |
Het |
| Zfp369 |
A |
T |
13: 65,428,095 (GRCm39) |
D18V |
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 |
|
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 |
|
IGL03258:Akr1c6
|
APN |
13 |
4,486,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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