Incidental Mutation 'R2846:Hsd3b1'
| ID |
251575 |
| 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 |
040439-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R2846 (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: 95.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cdnf |
T |
A |
2: 3,514,165 (GRCm39) |
M1K |
probably null |
Het |
| Ddx4 |
T |
A |
13: 112,741,146 (GRCm39) |
K496M |
probably damaging |
Het |
| Dlg1 |
T |
C |
16: 31,682,015 (GRCm39) |
S779P |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,784,560 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Gal3st2c |
A |
T |
1: 93,924,122 (GRCm39) |
Q8L |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,245,746 (GRCm39) |
V2153A |
probably benign |
Het |
| Irs4 |
C |
A |
X: 140,507,336 (GRCm39) |
G287W |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,818,667 (GRCm39) |
I1570V |
probably benign |
Het |
| Kremen1 |
GG |
GGGCG |
11: 5,151,793 (GRCm39) |
|
probably benign |
Het |
| Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,255,085 (GRCm39) |
V521A |
probably damaging |
Het |
| Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
| Or1e25 |
A |
T |
11: 73,494,209 (GRCm39) |
T268S |
probably benign |
Het |
| Pdgfrb |
C |
T |
18: 61,197,088 (GRCm39) |
P175S |
probably benign |
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 |
| Ppfia3 |
C |
A |
7: 45,005,852 (GRCm39) |
R348L |
probably damaging |
Het |
| Prr12 |
G |
C |
7: 44,695,436 (GRCm39) |
S1343R |
unknown |
Het |
| Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
| Qpct |
A |
G |
17: 79,378,171 (GRCm39) |
T114A |
probably damaging |
Het |
| Sec24d |
A |
G |
3: 123,144,395 (GRCm39) |
D624G |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,623,792 (GRCm39) |
Y259C |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Smarcb1 |
C |
A |
10: 75,733,375 (GRCm39) |
R332L |
probably damaging |
Het |
| Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,915,811 (GRCm39) |
C819S |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,230 (GRCm39) |
N180D |
possibly damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
| Tmem204 |
G |
A |
17: 25,299,307 (GRCm39) |
H71Y |
probably benign |
Het |
| Vmn1r212 |
A |
G |
13: 23,068,262 (GRCm39) |
S24P |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,211 (GRCm39) |
S208P |
possibly damaging |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,646,099 (GRCm39) |
S259G |
probably benign |
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 |
|
R2845: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'- TGTCCCTATCCACTCTGAGG -3'
(R):5'- ATATGTGGAAAATGTGGCCTGG -3'
Sequencing Primer
(F):5'- ATCCACTCTGAGGTTTTCTGC -3'
(R):5'- TGGGCACACATTCTGGCAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation