Incidental Mutation 'IGL02221:Hsd17b3'
| ID |
285140 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hsd17b3
|
| Ensembl Gene |
ENSMUSG00000033122 |
| Gene Name |
hydroxysteroid (17-beta) dehydrogenase 3 |
| Synonyms |
17(beta)HSD type 3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02221
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
64206080-64237044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 64236865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 26
(H26Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039832]
[ENSMUST00000166224]
[ENSMUST00000222783]
[ENSMUST00000222810]
|
| AlphaFold |
P70385 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039832
AA Change: H26Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000044217
Gene: ENSMUSG00000033122
AA Change: H26Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
45 |
213 |
3.4e-26 |
PFAM |
|
Pfam:adh_short_C2
|
51 |
272 |
1.2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166224
AA Change: H26Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000132011
Gene: ENSMUSG00000033122
AA Change: H26Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
45 |
240 |
2.4e-48 |
PFAM |
|
Pfam:adh_short_C2
|
51 |
272 |
3.8e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222783
AA Change: H26Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222810
AA Change: H26Q
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
T |
C |
6: 124,333,907 (GRCm39) |
I24M |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,220,071 (GRCm39) |
D390N |
probably damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,471,073 (GRCm39) |
Y407C |
probably damaging |
Het |
| B430306N03Rik |
T |
C |
17: 48,631,223 (GRCm39) |
|
probably benign |
Het |
| Cd44 |
A |
T |
2: 102,676,858 (GRCm39) |
M269K |
probably benign |
Het |
| Cdin1 |
T |
C |
2: 115,469,547 (GRCm39) |
|
probably null |
Het |
| Cpped1 |
G |
T |
16: 11,646,392 (GRCm39) |
P144Q |
probably damaging |
Het |
| Epas1 |
C |
T |
17: 87,135,275 (GRCm39) |
T636M |
possibly damaging |
Het |
| Ighv8-9 |
A |
G |
12: 115,431,947 (GRCm39) |
|
probably benign |
Het |
| Itih1 |
A |
T |
14: 30,651,544 (GRCm39) |
C883S |
probably damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Lcn3 |
A |
T |
2: 25,656,172 (GRCm39) |
M76L |
probably benign |
Het |
| Lin9 |
A |
T |
1: 180,478,399 (GRCm39) |
M53L |
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,645,384 (GRCm39) |
V687A |
possibly damaging |
Het |
| Mmd2 |
C |
T |
5: 142,555,212 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,953,123 (GRCm39) |
L619S |
probably damaging |
Het |
| Ngef |
T |
C |
1: 87,468,418 (GRCm39) |
T114A |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,289,597 (GRCm39) |
D305G |
possibly damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,013,944 (GRCm39) |
F435L |
possibly damaging |
Het |
| Nup188 |
A |
G |
2: 30,220,653 (GRCm39) |
I909V |
possibly damaging |
Het |
| Osbpl3 |
A |
C |
6: 50,304,347 (GRCm39) |
|
probably benign |
Het |
| P2ry2 |
G |
T |
7: 100,647,321 (GRCm39) |
P328H |
possibly damaging |
Het |
| Prex2 |
A |
T |
1: 11,131,569 (GRCm39) |
N46I |
probably benign |
Het |
| Prss42 |
T |
C |
9: 110,632,243 (GRCm39) |
F325L |
possibly damaging |
Het |
| Reep5 |
A |
G |
18: 34,482,850 (GRCm39) |
F120L |
probably damaging |
Het |
| Scg3 |
G |
T |
9: 75,590,939 (GRCm39) |
F23L |
probably damaging |
Het |
| Scx |
A |
G |
15: 76,343,295 (GRCm39) |
D200G |
probably benign |
Het |
| Setd5 |
C |
T |
6: 113,098,131 (GRCm39) |
|
probably benign |
Het |
| Tcf4 |
T |
A |
18: 69,480,438 (GRCm39) |
S23R |
probably damaging |
Het |
| Ttc4 |
A |
G |
4: 106,533,793 (GRCm39) |
|
probably null |
Het |
| Tyro3 |
T |
A |
2: 119,643,071 (GRCm39) |
C627S |
probably benign |
Het |
| Yipf2 |
T |
C |
9: 21,502,764 (GRCm39) |
N106S |
possibly damaging |
Het |
| Zfp619 |
T |
C |
7: 39,186,334 (GRCm39) |
L788P |
probably benign |
Het |
| Zfp831 |
G |
A |
2: 174,485,519 (GRCm39) |
V65I |
probably benign |
Het |
| Zgpat |
T |
C |
2: 181,020,651 (GRCm39) |
S275P |
probably benign |
Het |
|
| Other mutations in Hsd17b3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01407:Hsd17b3
|
APN |
13 |
64,210,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02257:Hsd17b3
|
APN |
13 |
64,207,276 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02745:Hsd17b3
|
APN |
13 |
64,234,990 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03189:Hsd17b3
|
APN |
13 |
64,210,901 (GRCm39) |
critical splice donor site |
probably null |
|
|
hermine
|
UTSW |
13 |
64,210,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02988:Hsd17b3
|
UTSW |
13 |
64,236,914 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0116:Hsd17b3
|
UTSW |
13 |
64,206,403 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0659:Hsd17b3
|
UTSW |
13 |
64,221,750 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0684:Hsd17b3
|
UTSW |
13 |
64,236,882 (GRCm39) |
missense |
probably benign |
|
|
R0834:Hsd17b3
|
UTSW |
13 |
64,236,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3750:Hsd17b3
|
UTSW |
13 |
64,210,993 (GRCm39) |
splice site |
probably null |
|
|
R3845:Hsd17b3
|
UTSW |
13 |
64,236,876 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3973:Hsd17b3
|
UTSW |
13 |
64,207,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4602:Hsd17b3
|
UTSW |
13 |
64,210,984 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5027:Hsd17b3
|
UTSW |
13 |
64,210,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5470:Hsd17b3
|
UTSW |
13 |
64,221,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5897:Hsd17b3
|
UTSW |
13 |
64,236,799 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5992:Hsd17b3
|
UTSW |
13 |
64,207,284 (GRCm39) |
splice site |
probably null |
|
|
R6898:Hsd17b3
|
UTSW |
13 |
64,207,339 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7297:Hsd17b3
|
UTSW |
13 |
64,224,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7555:Hsd17b3
|
UTSW |
13 |
64,219,816 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8743:Hsd17b3
|
UTSW |
13 |
64,210,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8786:Hsd17b3
|
UTSW |
13 |
64,219,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8904:Hsd17b3
|
UTSW |
13 |
64,212,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8994:Hsd17b3
|
UTSW |
13 |
64,210,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9324:Hsd17b3
|
UTSW |
13 |
64,206,459 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9649:Hsd17b3
|
UTSW |
13 |
64,212,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Hsd17b3
|
UTSW |
13 |
64,210,952 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2015-04-16 |
Incidental Mutation