Incidental Mutation 'R3750:Hsd17b3'
| ID |
310155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsd17b3
|
| Ensembl Gene |
ENSMUSG00000033122 |
| Gene Name |
hydroxysteroid (17-beta) dehydrogenase 3 |
| Synonyms |
17(beta)HSD type 3 |
| MMRRC Submission |
040735-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3750 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
64206080-64237044 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 64210993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039832]
[ENSMUST00000039832]
[ENSMUST00000166224]
[ENSMUST00000166224]
[ENSMUST00000222783]
[ENSMUST00000222783]
[ENSMUST00000222810]
|
| AlphaFold |
P70385 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039832
|
| SMART Domains |
Protein: ENSMUSP00000044217
Gene: ENSMUSG00000033122
| 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 null
Transcript: ENSMUST00000039832
|
| SMART Domains |
Protein: ENSMUSP00000044217
Gene: ENSMUSG00000033122
| 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 null
Transcript: ENSMUST00000166224
|
| SMART Domains |
Protein: ENSMUSP00000132011
Gene: ENSMUSG00000033122
| 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 null
Transcript: ENSMUST00000166224
|
| SMART Domains |
Protein: ENSMUSP00000132011
Gene: ENSMUSG00000033122
| 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: ENSMUST00000221513
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222783
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222783
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222810
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (38/38) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
| Adam12 |
T |
C |
7: 133,774,594 (GRCm39) |
D5G |
probably damaging |
Het |
| Adam26b |
A |
C |
8: 43,974,234 (GRCm39) |
V256G |
probably benign |
Het |
| Ago1 |
A |
G |
4: 126,354,837 (GRCm39) |
I125T |
probably benign |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,445,936 (GRCm39) |
N319K |
possibly damaging |
Het |
| Clcn6 |
G |
T |
4: 148,108,644 (GRCm39) |
C128* |
probably null |
Het |
| Col6a4 |
C |
A |
9: 105,897,864 (GRCm39) |
|
probably null |
Het |
| Cyp4v3 |
G |
A |
8: 45,768,745 (GRCm39) |
R272* |
probably null |
Het |
| Dlg5 |
G |
A |
14: 24,215,328 (GRCm39) |
A665V |
probably damaging |
Het |
| Foxd1 |
G |
C |
13: 98,492,424 (GRCm39) |
A433P |
unknown |
Het |
| Kcnc4 |
A |
G |
3: 107,355,506 (GRCm39) |
V314A |
probably benign |
Het |
| Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
| Marcks |
G |
A |
10: 37,016,866 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
| Nefh |
A |
G |
11: 4,889,937 (GRCm39) |
V894A |
probably benign |
Het |
| Pdzph1 |
A |
T |
17: 59,280,331 (GRCm39) |
Y650* |
probably null |
Het |
| Plce1 |
A |
C |
19: 38,766,343 (GRCm39) |
I2109L |
probably benign |
Het |
| Pramel18 |
T |
A |
4: 101,767,073 (GRCm39) |
D107E |
possibly damaging |
Het |
| Primpol |
A |
T |
8: 47,052,848 (GRCm39) |
D154E |
probably benign |
Het |
| Relch |
C |
T |
1: 105,681,302 (GRCm39) |
T1178I |
probably damaging |
Het |
| Rtca |
A |
T |
3: 116,286,650 (GRCm39) |
F327L |
probably benign |
Het |
| Scn2a |
T |
G |
2: 65,544,115 (GRCm39) |
V832G |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Skil |
A |
G |
3: 31,170,983 (GRCm39) |
N354S |
probably benign |
Het |
| Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
| Spata31 |
G |
T |
13: 65,069,557 (GRCm39) |
L568F |
probably benign |
Het |
| Spon1 |
T |
C |
7: 113,365,621 (GRCm39) |
L19P |
probably damaging |
Het |
| Spon1 |
T |
A |
7: 113,616,024 (GRCm39) |
V297E |
possibly damaging |
Het |
| Tas2r136 |
A |
T |
6: 132,754,200 (GRCm39) |
F309Y |
probably damaging |
Het |
| Tcp11l1 |
A |
G |
2: 104,528,887 (GRCm39) |
I137T |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,584,350 (GRCm39) |
H22253Y |
probably damaging |
Het |
| Upf1 |
G |
T |
8: 70,786,000 (GRCm39) |
N975K |
possibly damaging |
Het |
| Usp1 |
C |
T |
4: 98,822,357 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
| Zswim4 |
G |
A |
8: 84,938,676 (GRCm39) |
P1069S |
possibly damaging |
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 |
|
IGL02221:Hsd17b3
|
APN |
13 |
64,236,865 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAAAAGCCTGCAGTGAG -3'
(R):5'- TTACGCCGCAAGACTACAG -3'
Sequencing Primer
(F):5'- TTATAGACAGCTCCCTCGGG -3'
(R):5'- GCCGCAAGACTACAGAGTGAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation