Incidental Mutation 'IGL00534:Hsd3b1'
| ID |
6809 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hsd3b1
|
| Ensembl Gene |
ENSMUSG00000027871 |
| Gene Name |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 |
| Synonyms |
D3Ertd383e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
IGL00534
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
98759510-98767110 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98760562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 143
(E143G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029465]
[ENSMUST00000107016]
|
| AlphaFold |
P24815 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029465
AA Change: E143G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029465
Gene: ENSMUSG00000027871
AA Change: E143G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Epimerase
|
24 |
248 |
3.8e-23 |
PFAM |
|
Pfam:NAD_binding_4
|
25 |
226 |
3.4e-18 |
PFAM |
|
Pfam:Polysacc_synt_2
|
30 |
129 |
1.3e-8 |
PFAM |
|
Pfam:3Beta_HSD
|
34 |
282 |
1.8e-102 |
PFAM |
|
Pfam:NAD_binding_10
|
35 |
228 |
1.7e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107016
AA Change: E143G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102630
Gene: ENSMUSG00000027871
AA Change: E143G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RmlD_sub_bind
|
4 |
264 |
4.3e-8 |
PFAM |
|
Pfam:KR
|
5 |
133 |
1.1e-7 |
PFAM |
|
Pfam:Ldh_1_N
|
5 |
135 |
4.3e-7 |
PFAM |
|
Pfam:Polysacc_synt_2
|
6 |
136 |
3e-14 |
PFAM |
|
Pfam:NmrA
|
6 |
138 |
6.2e-10 |
PFAM |
|
Pfam:Epimerase
|
6 |
250 |
2.9e-30 |
PFAM |
|
Pfam:GDP_Man_Dehyd
|
7 |
216 |
6.6e-16 |
PFAM |
|
Pfam:3Beta_HSD
|
7 |
288 |
2.1e-122 |
PFAM |
|
Pfam:NAD_binding_4
|
8 |
219 |
4e-21 |
PFAM |
|
| 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 is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsj |
G |
T |
3: 126,158,594 (GRCm39) |
A58S |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,407,150 (GRCm39) |
S2148T |
probably benign |
Het |
| Esd |
T |
C |
14: 74,975,901 (GRCm39) |
V34A |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,351,553 (GRCm39) |
|
probably null |
Het |
| Glce |
G |
A |
9: 61,967,765 (GRCm39) |
T462M |
probably damaging |
Het |
| Gm382 |
A |
G |
X: 125,971,238 (GRCm39) |
Y1141C |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,479,021 (GRCm39) |
I76N |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,958,215 (GRCm39) |
T153A |
probably damaging |
Het |
| Irs1 |
A |
G |
1: 82,266,192 (GRCm39) |
S675P |
probably benign |
Het |
| Lars1 |
A |
T |
18: 42,362,719 (GRCm39) |
H573Q |
probably damaging |
Het |
| Lman2 |
T |
C |
13: 55,499,055 (GRCm39) |
E237G |
possibly damaging |
Het |
| Map2k4 |
C |
A |
11: 65,610,305 (GRCm39) |
|
probably benign |
Het |
| Pde6b |
T |
C |
5: 108,574,437 (GRCm39) |
|
probably benign |
Het |
| Pomgnt1 |
T |
C |
4: 116,009,958 (GRCm39) |
L136P |
probably damaging |
Het |
| Ralgapb |
T |
A |
2: 158,272,420 (GRCm39) |
M158K |
possibly damaging |
Het |
| Serpina3n |
A |
G |
12: 104,378,604 (GRCm39) |
E308G |
probably benign |
Het |
| Sgo2a |
T |
A |
1: 58,055,503 (GRCm39) |
N562K |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,545 (GRCm39) |
Y264C |
probably damaging |
Het |
| Snx27 |
G |
A |
3: 94,469,279 (GRCm39) |
H21Y |
probably damaging |
Het |
|
| Other mutations in Hsd3b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01955:Hsd3b1
|
APN |
3 |
98,760,463 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02894:Hsd3b1
|
APN |
3 |
98,760,245 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03136:Hsd3b1
|
APN |
3 |
98,760,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0265:Hsd3b1
|
UTSW |
3 |
98,760,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0326:Hsd3b1
|
UTSW |
3 |
98,760,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Hsd3b1
|
UTSW |
3 |
98,760,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1532:Hsd3b1
|
UTSW |
3 |
98,760,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2845:Hsd3b1
|
UTSW |
3 |
98,760,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2846:Hsd3b1
|
UTSW |
3 |
98,760,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2898:Hsd3b1
|
UTSW |
3 |
98,760,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3153:Hsd3b1
|
UTSW |
3 |
98,759,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3950:Hsd3b1
|
UTSW |
3 |
98,763,454 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4456:Hsd3b1
|
UTSW |
3 |
98,763,459 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4792:Hsd3b1
|
UTSW |
3 |
98,760,226 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4799:Hsd3b1
|
UTSW |
3 |
98,760,181 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4898:Hsd3b1
|
UTSW |
3 |
98,760,642 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5512:Hsd3b1
|
UTSW |
3 |
98,760,521 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5834:Hsd3b1
|
UTSW |
3 |
98,760,255 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5921:Hsd3b1
|
UTSW |
3 |
98,765,215 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6221:Hsd3b1
|
UTSW |
3 |
98,760,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6918:Hsd3b1
|
UTSW |
3 |
98,760,425 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7058:Hsd3b1
|
UTSW |
3 |
98,765,131 (GRCm39) |
splice site |
probably null |
|
|
R7242:Hsd3b1
|
UTSW |
3 |
98,760,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8181:Hsd3b1
|
UTSW |
3 |
98,763,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8187:Hsd3b1
|
UTSW |
3 |
98,759,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8237:Hsd3b1
|
UTSW |
3 |
98,760,426 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8695:Hsd3b1
|
UTSW |
3 |
98,760,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Hsd3b1
|
UTSW |
3 |
98,760,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9013:Hsd3b1
|
UTSW |
3 |
98,759,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9188:Hsd3b1
|
UTSW |
3 |
98,760,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Hsd3b1
|
UTSW |
3 |
98,760,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-04-20 |
Incidental Mutation