Incidental Mutation 'IGL03399:Hsd17b6'
| ID |
421341 |
| 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: 0.126)
|
| Stock # |
IGL03399
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127826805-127843480 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127829625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 192
(H192Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026462]
[ENSMUST00000219183]
[ENSMUST00000219447]
[ENSMUST00000219707]
[ENSMUST00000219780]
[ENSMUST00000219953]
|
| AlphaFold |
Q9R092 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026462
AA Change: H192Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000026462
Gene: ENSMUSG00000025396
AA Change: H192Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:adh_short
|
30 |
222 |
6.2e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219183
AA Change: H192Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219447
AA Change: H192Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219707
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219780
|
| Predicted Effect |
probably benign
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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss1 |
C |
T |
2: 150,479,798 (GRCm39) |
G303D |
probably damaging |
Het |
| Adam6b |
A |
T |
12: 113,454,728 (GRCm39) |
Y515F |
probably damaging |
Het |
| Birc2 |
A |
T |
9: 7,821,088 (GRCm39) |
L412Q |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,901,368 (GRCm39) |
I1144T |
probably benign |
Het |
| Dip2b |
A |
T |
15: 100,073,208 (GRCm39) |
N770I |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,353,956 (GRCm39) |
N671D |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 119,108,426 (GRCm39) |
D823G |
probably damaging |
Het |
| Eif5 |
A |
G |
12: 111,511,024 (GRCm39) |
D367G |
probably damaging |
Het |
| Exog |
T |
G |
9: 119,276,017 (GRCm39) |
S56A |
possibly damaging |
Het |
| Hap1 |
C |
A |
11: 100,245,093 (GRCm39) |
M39I |
possibly damaging |
Het |
| Insrr |
T |
A |
3: 87,716,638 (GRCm39) |
L622Q |
probably null |
Het |
| Kars1 |
G |
T |
8: 112,734,926 (GRCm39) |
A20E |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,431,771 (GRCm39) |
D197G |
probably damaging |
Het |
| Mapk9 |
T |
A |
11: 49,774,126 (GRCm39) |
|
probably benign |
Het |
| Naip1 |
A |
T |
13: 100,545,426 (GRCm39) |
D1367E |
probably damaging |
Het |
| Oaz1 |
G |
A |
10: 80,664,176 (GRCm39) |
S84N |
probably benign |
Het |
| Ofcc1 |
T |
C |
13: 40,296,314 (GRCm39) |
R507G |
possibly damaging |
Het |
| Or1j16 |
T |
G |
2: 36,530,894 (GRCm39) |
V281G |
possibly damaging |
Het |
| Or5p6 |
A |
G |
7: 107,630,789 (GRCm39) |
F254L |
probably benign |
Het |
| Or8g24 |
A |
T |
9: 38,989,533 (GRCm39) |
C169* |
probably null |
Het |
| Pclo |
T |
A |
5: 14,816,745 (GRCm39) |
D4540E |
unknown |
Het |
| Ppp6r1 |
A |
G |
7: 4,646,251 (GRCm39) |
V150A |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,861,658 (GRCm39) |
D544G |
probably benign |
Het |
| Rab27b |
A |
G |
18: 70,120,067 (GRCm39) |
I128T |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,827,869 (GRCm39) |
E26K |
probably benign |
Het |
| Slc25a1 |
G |
T |
16: 17,743,684 (GRCm39) |
T195K |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,459,915 (GRCm39) |
N479D |
probably benign |
Het |
| Thsd7b |
G |
T |
1: 129,556,622 (GRCm39) |
W326L |
probably damaging |
Het |
| Tril |
T |
C |
6: 53,797,042 (GRCm39) |
D60G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,615,625 (GRCm39) |
R14984H |
probably damaging |
Het |
| Uba2 |
G |
A |
7: 33,843,939 (GRCm39) |
T12I |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,578,220 (GRCm39) |
|
probably benign |
Het |
| Vti1a |
A |
G |
19: 55,487,703 (GRCm39) |
K183R |
probably benign |
Het |
| Zkscan16 |
T |
C |
4: 58,956,915 (GRCm39) |
V399A |
probably benign |
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 |
|
IGL03380:Hsd17b6
|
APN |
10 |
127,830,207 (GRCm39) |
splice site |
probably null |
|
|
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 |
Incidental Mutation