Incidental Mutation 'IGL00498:Hsd17b1'
| ID |
4495 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hsd17b1
|
| Ensembl Gene |
ENSMUSG00000019301 |
| Gene Name |
hydroxysteroid (17-beta) dehydrogenase 1 |
| Synonyms |
Hsd17ba, 17beta-HSD |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00498
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
100969237-100971353 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100970884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 280
(H280L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001802]
[ENSMUST00000001806]
[ENSMUST00000019445]
[ENSMUST00000107308]
|
| AlphaFold |
P51656 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001802
|
| SMART Domains |
Protein: ENSMUSP00000001802
Gene: ENSMUSG00000001751
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:NAGLU_N
|
28 |
114 |
4.8e-24 |
PFAM |
|
Pfam:NAGLU
|
128 |
463 |
8.2e-150 |
PFAM |
|
Pfam:NAGLU_C
|
471 |
731 |
4.5e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001806
|
| SMART Domains |
Protein: ENSMUSP00000001806
Gene: ENSMUSG00000001755
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
170 |
N/A |
INTRINSIC |
|
Pfam:CTP_transf_2
|
194 |
338 |
1.4e-11 |
PFAM |
|
Pfam:CoaE
|
358 |
536 |
5.6e-44 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019445
AA Change: H280L
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000019445
Gene: ENSMUSG00000019301
AA Change: H280L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
4 |
174 |
3.5e-9 |
PFAM |
|
Pfam:adh_short
|
4 |
200 |
1.6e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107308
|
| SMART Domains |
Protein: ENSMUSP00000102929
Gene: ENSMUSG00000001755
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
170 |
N/A |
INTRINSIC |
|
Pfam:CTP_transf_like
|
194 |
338 |
5.3e-11 |
PFAM |
|
Pfam:CoaE
|
358 |
536 |
1.7e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138409
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140735
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151686
|
| 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 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe female subfertility with defects in leteunization and progesterone production. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
G |
A |
2: 68,432,242 (GRCm39) |
G128R |
unknown |
Het |
| Acsm5 |
T |
C |
7: 119,141,661 (GRCm39) |
|
probably null |
Het |
| Atad2 |
A |
C |
15: 57,980,216 (GRCm39) |
F423V |
probably damaging |
Het |
| Carmil3 |
T |
A |
14: 55,739,352 (GRCm39) |
|
probably null |
Het |
| Cdc42bpa |
A |
C |
1: 179,933,686 (GRCm39) |
E775A |
probably damaging |
Het |
| Cfdp1 |
T |
C |
8: 112,567,110 (GRCm39) |
E133G |
probably benign |
Het |
| Chst3 |
A |
G |
10: 60,021,441 (GRCm39) |
F469L |
possibly damaging |
Het |
| Dbx1 |
T |
C |
7: 49,286,222 (GRCm39) |
D81G |
probably benign |
Het |
| Dmp1 |
A |
G |
5: 104,358,021 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,896,150 (GRCm39) |
T855A |
probably benign |
Het |
| Fbxw2 |
C |
T |
2: 34,695,953 (GRCm39) |
A250T |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,791,222 (GRCm39) |
C828R |
probably damaging |
Het |
| Gmfg |
G |
T |
7: 28,145,810 (GRCm39) |
R83L |
possibly damaging |
Het |
| Gpr37l1 |
A |
G |
1: 135,089,440 (GRCm39) |
|
probably benign |
Het |
| Hcfc1r1 |
G |
A |
17: 23,892,982 (GRCm39) |
R9Q |
probably damaging |
Het |
| Hsd17b12 |
A |
C |
2: 93,913,510 (GRCm39) |
|
probably null |
Het |
| Itga1 |
A |
G |
13: 115,167,729 (GRCm39) |
V99A |
probably benign |
Het |
| Kcnn1 |
A |
G |
8: 71,305,524 (GRCm39) |
S229P |
probably damaging |
Het |
| Klhdc8a |
A |
G |
1: 132,230,756 (GRCm39) |
N207S |
probably benign |
Het |
| Lrrtm4 |
T |
C |
6: 79,999,529 (GRCm39) |
W314R |
probably damaging |
Het |
| Malrd1 |
T |
C |
2: 16,146,997 (GRCm39) |
|
probably benign |
Het |
| Marcks |
T |
C |
10: 37,014,513 (GRCm39) |
K7E |
probably damaging |
Het |
| Mov10 |
A |
G |
3: 104,708,263 (GRCm39) |
|
probably benign |
Het |
| Pclo |
A |
T |
5: 14,590,753 (GRCm39) |
T1018S |
unknown |
Het |
| Sdk1 |
T |
C |
5: 142,071,361 (GRCm39) |
Y1184H |
probably damaging |
Het |
| Slc6a18 |
A |
T |
13: 73,819,838 (GRCm39) |
M244K |
possibly damaging |
Het |
| Snx19 |
C |
T |
9: 30,340,233 (GRCm39) |
T457I |
possibly damaging |
Het |
| Stard3 |
T |
A |
11: 98,267,356 (GRCm39) |
V158D |
possibly damaging |
Het |
| Tnks |
G |
T |
8: 35,328,843 (GRCm39) |
|
probably benign |
Het |
| Ugt2b34 |
A |
G |
5: 87,049,084 (GRCm39) |
S314P |
probably damaging |
Het |
| Usp15 |
G |
A |
10: 122,949,501 (GRCm39) |
S952L |
probably benign |
Het |
| Utp11 |
A |
G |
4: 124,573,532 (GRCm39) |
V214A |
possibly damaging |
Het |
|
| Other mutations in Hsd17b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01602:Hsd17b1
|
APN |
11 |
100,969,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01605:Hsd17b1
|
APN |
11 |
100,969,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03121:Hsd17b1
|
APN |
11 |
100,970,870 (GRCm39) |
nonsense |
probably null |
|
|
R2184:Hsd17b1
|
UTSW |
11 |
100,969,357 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2237:Hsd17b1
|
UTSW |
11 |
100,970,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2239:Hsd17b1
|
UTSW |
11 |
100,969,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2380:Hsd17b1
|
UTSW |
11 |
100,969,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3777:Hsd17b1
|
UTSW |
11 |
100,969,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4469:Hsd17b1
|
UTSW |
11 |
100,970,838 (GRCm39) |
missense |
probably benign |
|
|
R5185:Hsd17b1
|
UTSW |
11 |
100,971,024 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6701:Hsd17b1
|
UTSW |
11 |
100,970,981 (GRCm39) |
nonsense |
probably null |
|
|
R7108:Hsd17b1
|
UTSW |
11 |
100,970,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7396:Hsd17b1
|
UTSW |
11 |
100,970,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9171:Hsd17b1
|
UTSW |
11 |
100,969,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9462:Hsd17b1
|
UTSW |
11 |
100,969,806 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Z1177:Hsd17b1
|
UTSW |
11 |
100,970,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation