Incidental Mutation 'R2845:Hsd3b1'
ID |
251497 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hsd3b1
|
Ensembl Gene |
ENSMUSG00000027871 |
Gene Name |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 |
Synonyms |
D3Ertd383e |
MMRRC Submission |
040438-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R2845 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
98759510-98767110 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98760094 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 299
(E299G)
|
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: E299G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029465 Gene: ENSMUSG00000027871 AA Change: E299G
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: E299G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102630 Gene: ENSMUSG00000027871 AA Change: E299G
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap25 |
C |
T |
6: 87,436,949 (GRCm39) |
E634K |
possibly damaging |
Het |
Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Cep152 |
A |
G |
2: 125,429,894 (GRCm39) |
I676T |
probably damaging |
Het |
Cherp |
C |
A |
8: 73,220,247 (GRCm39) |
A449S |
probably damaging |
Het |
Col19a1 |
C |
T |
1: 24,598,762 (GRCm39) |
G77E |
unknown |
Het |
Cplane1 |
G |
A |
15: 8,245,864 (GRCm39) |
R1412H |
probably damaging |
Het |
Csnk1g2 |
A |
G |
10: 80,474,438 (GRCm39) |
S220G |
probably damaging |
Het |
Efcab7 |
T |
A |
4: 99,766,835 (GRCm39) |
V20D |
probably damaging |
Het |
Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
Frem3 |
T |
C |
8: 81,339,849 (GRCm39) |
F714S |
probably damaging |
Het |
Gpx6 |
A |
T |
13: 21,503,045 (GRCm39) |
|
probably null |
Het |
Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
Mrgpra2a |
T |
A |
7: 47,076,878 (GRCm39) |
M127L |
probably benign |
Het |
Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
Pign |
C |
A |
1: 105,585,521 (GRCm39) |
L9F |
possibly damaging |
Het |
Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
Plekhh3 |
T |
C |
11: 101,061,056 (GRCm39) |
|
probably benign |
Het |
Pramel22 |
G |
A |
4: 143,380,868 (GRCm39) |
S385F |
probably damaging |
Het |
Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
Ptpru |
T |
A |
4: 131,546,972 (GRCm39) |
I168F |
probably benign |
Het |
Sbf1 |
A |
G |
15: 89,187,421 (GRCm39) |
|
probably null |
Het |
Skint10 |
T |
C |
4: 112,573,023 (GRCm39) |
S258G |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
Tas2r138 |
T |
C |
6: 40,589,701 (GRCm39) |
S182G |
probably benign |
Het |
Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
Zfp24 |
G |
T |
18: 24,150,885 (GRCm39) |
T87K |
probably damaging |
Het |
Zfp407 |
G |
T |
18: 84,576,522 (GRCm39) |
C1530* |
probably null |
Het |
|
Other mutations in Hsd3b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00534:Hsd3b1
|
APN |
3 |
98,760,562 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGGCACTTTGTGTCCAATATC -3'
(R):5'- CTTCGAGACCCCAAGAAGTC -3'
Sequencing Primer
(F):5'- ATTGTCCCTATCCACTCTGAGG -3'
(R):5'- GTCTACAAGCATCCAAGGACAGTTC -3'
|
Posted On |
2014-12-04 |