Incidental Mutation 'R6918:Hsd3b1'
| ID |
539436 |
| 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 |
045005-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R6918 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
98759510-98767110 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98760425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 189
(Y189H)
|
| 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: Y189H
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029465
Gene: ENSMUSG00000027871
AA Change: Y189H
| 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: Y189H
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102630
Gene: ENSMUSG00000027871
AA Change: Y189H
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (48/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
C |
17: 24,627,632 (GRCm39) |
K1359Q |
probably damaging |
Het |
| Ace |
T |
C |
11: 105,863,769 (GRCm39) |
Y406H |
probably damaging |
Het |
| Acsl6 |
A |
G |
11: 54,232,582 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,599,643 (GRCm39) |
Y1959N |
possibly damaging |
Het |
| Chrna7 |
T |
A |
7: 62,809,299 (GRCm39) |
I76F |
probably benign |
Het |
| Cuedc1 |
C |
T |
11: 88,077,899 (GRCm39) |
T296I |
probably benign |
Het |
| Ddc |
A |
G |
11: 11,769,307 (GRCm39) |
V409A |
probably damaging |
Het |
| Dhx8 |
T |
A |
11: 101,629,247 (GRCm39) |
Y212* |
probably null |
Het |
| Dnah6 |
T |
A |
6: 73,158,738 (GRCm39) |
K622* |
probably null |
Het |
| Dscaml1 |
A |
G |
9: 45,341,805 (GRCm39) |
H72R |
probably benign |
Het |
| Dyrk1b |
A |
G |
7: 27,885,350 (GRCm39) |
D396G |
probably damaging |
Het |
| Gstm2 |
A |
G |
3: 107,892,557 (GRCm39) |
|
probably null |
Het |
| Kif1c |
G |
A |
11: 70,597,813 (GRCm39) |
E356K |
probably damaging |
Het |
| Kirrel2 |
A |
C |
7: 30,150,239 (GRCm39) |
C17G |
probably damaging |
Het |
| Klhl12 |
A |
G |
1: 134,403,584 (GRCm39) |
H259R |
possibly damaging |
Het |
| Krt1 |
A |
G |
15: 101,758,612 (GRCm39) |
V184A |
probably damaging |
Het |
| Lmod2 |
A |
T |
6: 24,603,594 (GRCm39) |
N190Y |
probably benign |
Het |
| Lrp2 |
A |
C |
2: 69,319,649 (GRCm39) |
V1958G |
probably damaging |
Het |
| Ly6h |
T |
C |
15: 75,437,507 (GRCm39) |
S37G |
probably damaging |
Het |
| Man2a2 |
A |
T |
7: 80,002,940 (GRCm39) |
H1056Q |
possibly damaging |
Het |
| Misp3 |
T |
G |
8: 84,738,313 (GRCm39) |
M1L |
probably benign |
Het |
| Mixl1 |
T |
A |
1: 180,522,243 (GRCm39) |
I213F |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,650,023 (GRCm39) |
I268T |
probably benign |
Het |
| Mtx2 |
C |
T |
2: 74,706,697 (GRCm39) |
T224I |
probably damaging |
Het |
| Or8c15 |
G |
A |
9: 38,120,948 (GRCm39) |
V198M |
possibly damaging |
Het |
| Oscp1 |
A |
C |
4: 125,970,571 (GRCm39) |
D120A |
possibly damaging |
Het |
| Parp1 |
G |
A |
1: 180,416,235 (GRCm39) |
V545I |
possibly damaging |
Het |
| Pipox |
A |
G |
11: 77,772,380 (GRCm39) |
I330T |
probably damaging |
Het |
| Pkp2 |
A |
G |
16: 16,090,082 (GRCm39) |
Y790C |
probably damaging |
Het |
| Pomt1 |
T |
A |
2: 32,142,873 (GRCm39) |
|
probably null |
Het |
| Pp2d1 |
G |
A |
17: 53,822,487 (GRCm39) |
T193M |
probably damaging |
Het |
| Prkra |
G |
T |
2: 76,460,797 (GRCm39) |
H300Q |
probably damaging |
Het |
| Ror2 |
T |
G |
13: 53,265,487 (GRCm39) |
N523T |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,069,831 (GRCm39) |
D1355E |
unknown |
Het |
| Rsph4a |
T |
C |
10: 33,781,272 (GRCm39) |
Y41H |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,162,557 (GRCm39) |
I230F |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 23,913,513 (GRCm39) |
M1K |
probably null |
Het |
| Tex15 |
T |
G |
8: 34,063,212 (GRCm39) |
L1155V |
probably benign |
Het |
| Tmprss3 |
T |
C |
17: 31,407,331 (GRCm39) |
K321E |
probably benign |
Het |
| Trappc14 |
A |
G |
5: 138,258,926 (GRCm39) |
V211A |
probably benign |
Het |
| Tsc2 |
A |
T |
17: 24,832,203 (GRCm39) |
C728S |
probably damaging |
Het |
| Ube2e3 |
A |
T |
2: 78,750,383 (GRCm39) |
K203M |
probably damaging |
Het |
| Unc50 |
A |
T |
1: 37,477,783 (GRCm39) |
T222S |
probably damaging |
Het |
| Vmn1r236 |
A |
T |
17: 21,507,878 (GRCm39) |
H332L |
probably benign |
Het |
| Vmn2r7 |
G |
A |
3: 64,598,760 (GRCm39) |
T599I |
probably benign |
Het |
| Zfp334 |
A |
T |
2: 165,223,799 (GRCm39) |
D81E |
possibly damaging |
Het |
| Zfp710 |
A |
G |
7: 79,731,788 (GRCm39) |
I322V |
possibly damaging |
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 |
|
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 |
|
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'- ACTTCTTGGGGTCTCGAAGG -3'
(R):5'- AGGCCTGTGTTCAAGCAAGTG -3'
Sequencing Primer
(F):5'- GTCTCGAAGGCCCCTGG -3'
(R):5'- TTGATGTTGCAGGGCCCAAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation