Incidental Mutation 'R5447:Hsd17b8'
| ID |
429159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsd17b8
|
| Ensembl Gene |
ENSMUSG00000073422 |
| Gene Name |
hydroxysteroid 17-beta dehydrogenase 8 |
| Synonyms |
H2-Ke6, Ring2, H-2Ke6 |
| MMRRC Submission |
043012-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5447 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34245007-34247029 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34245886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 202
(V202D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025183]
[ENSMUST00000025186]
[ENSMUST00000044858]
[ENSMUST00000045467]
[ENSMUST00000114303]
[ENSMUST00000169397]
[ENSMUST00000171872]
|
| AlphaFold |
P50171 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025183
|
| SMART Domains |
Protein: ENSMUSP00000025183
Gene: ENSMUSG00000024325
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
48 |
87 |
7.92e-8 |
SMART |
|
low complexity region
|
171 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
261 |
N/A |
INTRINSIC |
|
Pfam:RAWUL
|
272 |
400 |
4.8e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025186
|
| SMART Domains |
Protein: ENSMUSP00000025186
Gene: ENSMUSG00000024327
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
123 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
140 |
473 |
2.4e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044858
|
| SMART Domains |
Protein: ENSMUSP00000036585
Gene: ENSMUSG00000039656
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
186 |
N/A |
INTRINSIC |
|
ZnF_C4
|
189 |
260 |
3.98e-39 |
SMART |
|
low complexity region
|
269 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
316 |
N/A |
INTRINSIC |
|
HOLI
|
328 |
491 |
1.91e-50 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045467
AA Change: V195D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038069
Gene: ENSMUSG00000073422
AA Change: V195D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
10 |
201 |
1.5e-16 |
PFAM |
|
Pfam:adh_short
|
10 |
213 |
4.5e-52 |
PFAM |
|
Pfam:adh_short_C2
|
16 |
258 |
8.6e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083621
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114303
AA Change: V202D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133546
Gene: ENSMUSG00000073422
AA Change: V202D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
10 |
202 |
5.5e-16 |
PFAM |
|
Pfam:adh_short
|
22 |
193 |
2.7e-30 |
PFAM |
|
Pfam:adh_short_C2
|
23 |
234 |
1.4e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167145
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173425
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172739
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174399
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174851
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173810
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173616
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174054
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169397
|
| SMART Domains |
Protein: ENSMUSP00000130102
Gene: ENSMUSG00000024327
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
123 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
140 |
473 |
1.9e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171872
|
| SMART Domains |
Protein: ENSMUSP00000133146
Gene: ENSMUSG00000024327
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
123 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
140 |
246 |
4.7e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199860
|
| Meta Mutation Damage Score |
0.9364 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (71/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,891,061 (GRCm39) |
I479V |
probably damaging |
Het |
| Adam30 |
A |
G |
3: 98,068,659 (GRCm39) |
D164G |
probably benign |
Het |
| Adgrl3 |
T |
A |
5: 81,613,188 (GRCm39) |
|
probably benign |
Het |
| Adrb1 |
T |
C |
19: 56,711,519 (GRCm39) |
I239T |
probably benign |
Het |
| Albfm1 |
C |
A |
5: 90,732,169 (GRCm39) |
A458E |
probably damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,192,018 (GRCm39) |
T572A |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,744,332 (GRCm39) |
E1391G |
probably damaging |
Het |
| BC016579 |
A |
G |
16: 45,469,252 (GRCm39) |
V72A |
probably benign |
Het |
| Btnl10 |
A |
T |
11: 58,813,144 (GRCm39) |
I258F |
probably benign |
Het |
| Cdh5 |
A |
T |
8: 104,855,994 (GRCm39) |
D309V |
probably damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,881,063 (GRCm39) |
D1042G |
probably damaging |
Het |
| Clk2 |
G |
T |
3: 89,074,498 (GRCm39) |
V53F |
possibly damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,182,413 (GRCm39) |
D15G |
possibly damaging |
Het |
| Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,721,240 (GRCm39) |
Y1836C |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,172,245 (GRCm39) |
F1905L |
probably damaging |
Het |
| E130114P18Rik |
A |
G |
4: 97,578,955 (GRCm39) |
S7P |
unknown |
Het |
| Fam110a |
T |
C |
2: 151,812,629 (GRCm39) |
E47G |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Helb |
T |
A |
10: 119,938,806 (GRCm39) |
D556V |
possibly damaging |
Het |
| Hoxd4 |
A |
G |
2: 74,557,687 (GRCm39) |
E22G |
probably damaging |
Het |
| Il1rl2 |
T |
G |
1: 40,368,316 (GRCm39) |
I162R |
probably damaging |
Het |
| Lhfpl5 |
A |
G |
17: 28,795,071 (GRCm39) |
T33A |
probably damaging |
Het |
| Mapk8ip3 |
G |
A |
17: 25,118,163 (GRCm39) |
A1283V |
probably benign |
Het |
| Mettl13 |
A |
G |
1: 162,363,449 (GRCm39) |
V227A |
probably benign |
Het |
| Mmgt2 |
T |
A |
11: 62,555,824 (GRCm39) |
C57* |
probably null |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Mylk2 |
T |
C |
2: 152,754,430 (GRCm39) |
S175P |
probably damaging |
Het |
| Neu4 |
C |
T |
1: 93,950,140 (GRCm39) |
T33M |
probably damaging |
Het |
| Nfs1 |
C |
T |
2: 155,984,056 (GRCm39) |
R107H |
probably benign |
Het |
| Nfxl1 |
C |
T |
5: 72,686,512 (GRCm39) |
R563Q |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,612,495 (GRCm39) |
D70G |
probably benign |
Het |
| Nup160 |
C |
A |
2: 90,555,959 (GRCm39) |
Q1220K |
possibly damaging |
Het |
| Or1ad8 |
G |
A |
11: 50,898,170 (GRCm39) |
V124M |
possibly damaging |
Het |
| Or1e22 |
A |
G |
11: 73,377,002 (GRCm39) |
V216A |
probably benign |
Het |
| Or52s6 |
A |
C |
7: 103,092,147 (GRCm39) |
M61R |
probably damaging |
Het |
| Or5k8 |
A |
T |
16: 58,644,846 (GRCm39) |
C75* |
probably null |
Het |
| Pdgfrb |
T |
A |
18: 61,201,180 (GRCm39) |
V422E |
probably damaging |
Het |
| Pear1 |
G |
A |
3: 87,666,449 (GRCm39) |
R85C |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,309,609 (GRCm39) |
M2780L |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,550,410 (GRCm39) |
V62A |
possibly damaging |
Het |
| Prol1 |
C |
T |
5: 88,476,125 (GRCm39) |
P172S |
unknown |
Het |
| Proz |
A |
G |
8: 13,122,578 (GRCm39) |
I231V |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,675,059 (GRCm39) |
M718L |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,736,128 (GRCm39) |
C102R |
possibly damaging |
Het |
| Robo2 |
A |
T |
16: 73,770,654 (GRCm39) |
Y490* |
probably null |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Skint6 |
T |
A |
4: 112,963,106 (GRCm39) |
S442C |
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,502,485 (GRCm39) |
E303G |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Stk10 |
C |
T |
11: 32,554,166 (GRCm39) |
Q618* |
probably null |
Het |
| Tmc3 |
A |
T |
7: 83,271,569 (GRCm39) |
E907V |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,729,451 (GRCm39) |
|
probably benign |
Het |
| Vps39 |
T |
C |
2: 120,183,413 (GRCm39) |
D19G |
probably benign |
Het |
| Zan |
T |
C |
5: 137,470,453 (GRCm39) |
S229G |
probably damaging |
Het |
| Zfp141 |
A |
T |
7: 42,124,983 (GRCm39) |
C496* |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,356,768 (GRCm39) |
S665P |
possibly damaging |
Het |
|
| Other mutations in Hsd17b8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01763:Hsd17b8
|
APN |
17 |
34,245,835 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1419:Hsd17b8
|
UTSW |
17 |
34,246,617 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1565:Hsd17b8
|
UTSW |
17 |
34,246,469 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2017:Hsd17b8
|
UTSW |
17 |
34,245,187 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3802:Hsd17b8
|
UTSW |
17 |
34,245,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3803:Hsd17b8
|
UTSW |
17 |
34,245,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4988:Hsd17b8
|
UTSW |
17 |
34,246,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5081:Hsd17b8
|
UTSW |
17 |
34,246,552 (GRCm39) |
unclassified |
probably benign |
|
|
R5164:Hsd17b8
|
UTSW |
17 |
34,245,952 (GRCm39) |
unclassified |
probably benign |
|
|
R5475:Hsd17b8
|
UTSW |
17 |
34,246,287 (GRCm39) |
unclassified |
probably benign |
|
|
R5667:Hsd17b8
|
UTSW |
17 |
34,245,435 (GRCm39) |
missense |
probably null |
1.00 |
|
R5671:Hsd17b8
|
UTSW |
17 |
34,245,435 (GRCm39) |
missense |
probably null |
1.00 |
|
R6052:Hsd17b8
|
UTSW |
17 |
34,246,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6833:Hsd17b8
|
UTSW |
17 |
34,246,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Hsd17b8
|
UTSW |
17 |
34,246,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7853:Hsd17b8
|
UTSW |
17 |
34,246,411 (GRCm39) |
missense |
probably benign |
0.32 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAACACTCACGTGGGTAG -3'
(R):5'- CTCACTGTAGGTGGGGAATATCG -3'
Sequencing Primer
(F):5'- ACACTCACGTGGGTAGAAGTTTC -3'
(R):5'- TCGGACAAACGAATTATGCGTC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation