Incidental Mutation 'IGL03380:Hsd17b6'
ID |
420642 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hsd17b6
|
Ensembl Gene |
ENSMUSG00000025396 |
Gene Name |
hydroxysteroid (17-beta) dehydrogenase 6 |
Synonyms |
Hsd17b9, Rdh8, 17betaHSD9 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
IGL03380
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
127826805-127843480 bp(-) (GRCm39) |
Type of Mutation |
splice site (3369 bp from exon) |
DNA Base Change (assembly) |
T to C
at 127830207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151374
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026462]
[ENSMUST00000219183]
[ENSMUST00000219447]
[ENSMUST00000219707]
[ENSMUST00000219780]
[ENSMUST00000219953]
|
AlphaFold |
Q9R092 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026462
AA Change: D188G
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000026462 Gene: ENSMUSG00000025396 AA Change: D188G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:adh_short
|
30 |
222 |
6.2e-40 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219183
AA Change: D188G
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219447
AA Change: D188G
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000219707
|
Predicted Effect |
probably null
Transcript: ENSMUST00000219780
|
Predicted Effect |
probably null
Transcript: ENSMUST00000219953
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. [provided by RefSeq, Aug 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,248,574 (GRCm39) |
N2774D |
probably benign |
Het |
Aldh1a2 |
T |
G |
9: 71,162,399 (GRCm39) |
Y149* |
probably null |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Arhgap23 |
A |
G |
11: 97,343,344 (GRCm39) |
D542G |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,889,529 (GRCm39) |
E582G |
probably benign |
Het |
C4b |
A |
T |
17: 34,959,260 (GRCm39) |
V438D |
probably benign |
Het |
Caps2 |
A |
G |
10: 112,036,601 (GRCm39) |
E345G |
probably benign |
Het |
Cdk19 |
C |
T |
10: 40,352,908 (GRCm39) |
P308L |
probably benign |
Het |
Drc3 |
A |
G |
11: 60,268,731 (GRCm39) |
E307G |
probably benign |
Het |
Dst |
G |
A |
1: 34,296,881 (GRCm39) |
A1041T |
probably damaging |
Het |
Elp2 |
T |
C |
18: 24,755,537 (GRCm39) |
V428A |
probably benign |
Het |
Eml5 |
G |
T |
12: 98,840,906 (GRCm39) |
|
probably benign |
Het |
Fam120b |
G |
A |
17: 15,623,396 (GRCm39) |
|
probably benign |
Het |
Fpr-rs6 |
G |
A |
17: 20,403,245 (GRCm39) |
L39F |
possibly damaging |
Het |
Fsd1 |
T |
C |
17: 56,302,456 (GRCm39) |
I300T |
probably benign |
Het |
Hspa1a |
T |
C |
17: 35,189,253 (GRCm39) |
K550R |
probably benign |
Het |
Krba1 |
A |
G |
6: 48,380,387 (GRCm39) |
H37R |
possibly damaging |
Het |
Lama2 |
T |
C |
10: 26,926,261 (GRCm39) |
D2117G |
probably damaging |
Het |
Map4k2 |
T |
C |
19: 6,394,620 (GRCm39) |
F332S |
possibly damaging |
Het |
Mindy1 |
T |
C |
3: 95,198,329 (GRCm39) |
|
probably benign |
Het |
Nhsl1 |
T |
G |
10: 18,399,627 (GRCm39) |
Y284* |
probably null |
Het |
Or5b109 |
T |
A |
19: 13,212,365 (GRCm39) |
F250L |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,270,894 (GRCm39) |
T3220S |
probably damaging |
Het |
Pramel7 |
A |
T |
2: 87,321,716 (GRCm39) |
D106E |
probably benign |
Het |
Psme3 |
T |
C |
11: 101,210,852 (GRCm39) |
|
probably null |
Het |
Rsph1 |
T |
C |
17: 31,496,210 (GRCm39) |
E7G |
unknown |
Het |
Slc13a2 |
T |
C |
11: 78,289,908 (GRCm39) |
T469A |
probably benign |
Het |
Slc30a9 |
C |
T |
5: 67,473,054 (GRCm39) |
T46I |
probably benign |
Het |
Slc37a4 |
T |
G |
9: 44,311,320 (GRCm39) |
S204A |
probably benign |
Het |
Slc8b1 |
T |
C |
5: 120,657,800 (GRCm39) |
F88L |
probably damaging |
Het |
Smpd3 |
C |
T |
8: 106,986,291 (GRCm39) |
V504I |
probably benign |
Het |
Tbx4 |
A |
G |
11: 85,805,465 (GRCm39) |
N418S |
probably benign |
Het |
Tmem132c |
A |
G |
5: 127,613,506 (GRCm39) |
T470A |
probably benign |
Het |
Tmem207 |
A |
T |
16: 26,345,407 (GRCm39) |
C20S |
probably damaging |
Het |
Usp43 |
G |
A |
11: 67,766,142 (GRCm39) |
A761V |
possibly damaging |
Het |
Vmn1r191 |
C |
T |
13: 22,363,055 (GRCm39) |
S233N |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,513,874 (GRCm39) |
E256D |
probably benign |
Het |
Zc3hav1 |
T |
C |
6: 38,313,493 (GRCm39) |
Y184C |
probably damaging |
Het |
|
Other mutations in Hsd17b6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02314:Hsd17b6
|
APN |
10 |
127,833,777 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03399:Hsd17b6
|
APN |
10 |
127,829,625 (GRCm39) |
missense |
probably benign |
0.00 |
R0277:Hsd17b6
|
UTSW |
10 |
127,827,274 (GRCm39) |
missense |
probably benign |
0.05 |
R1731:Hsd17b6
|
UTSW |
10 |
127,830,348 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1780:Hsd17b6
|
UTSW |
10 |
127,830,196 (GRCm39) |
critical splice donor site |
probably null |
|
R4357:Hsd17b6
|
UTSW |
10 |
127,829,637 (GRCm39) |
splice site |
probably null |
|
R4668:Hsd17b6
|
UTSW |
10 |
127,830,295 (GRCm39) |
splice site |
probably null |
|
R4824:Hsd17b6
|
UTSW |
10 |
127,829,524 (GRCm39) |
missense |
probably benign |
|
R5390:Hsd17b6
|
UTSW |
10 |
127,827,308 (GRCm39) |
missense |
probably benign |
|
R5976:Hsd17b6
|
UTSW |
10 |
127,827,308 (GRCm39) |
missense |
probably benign |
|
R6382:Hsd17b6
|
UTSW |
10 |
127,827,196 (GRCm39) |
missense |
probably damaging |
0.97 |
R6442:Hsd17b6
|
UTSW |
10 |
127,829,636 (GRCm39) |
splice site |
probably null |
|
R7367:Hsd17b6
|
UTSW |
10 |
127,829,492 (GRCm39) |
missense |
probably benign |
0.02 |
R7597:Hsd17b6
|
UTSW |
10 |
127,827,227 (GRCm39) |
missense |
probably benign |
0.25 |
R7913:Hsd17b6
|
UTSW |
10 |
127,833,645 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8719:Hsd17b6
|
UTSW |
10 |
127,829,492 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9103:Hsd17b6
|
UTSW |
10 |
127,833,876 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2016-08-02 |