Incidental Mutation 'R4456:Hsd3b1'
| ID |
329179 |
| 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 |
041716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R4456 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
98759510-98767110 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98763459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 48
(T48I)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029465]
[ENSMUST00000107016]
|
| AlphaFold |
P24815 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029465
AA Change: T54I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000029465
Gene: ENSMUSG00000027871
AA Change: T54I
| 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 benign
Transcript: ENSMUST00000107016
AA Change: T54I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000102630
Gene: ENSMUSG00000027871
AA Change: T54I
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149768
AA Change: T48I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000120119
Gene: ENSMUSG00000027871
AA Change: T48I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_binding_4
|
24 |
226 |
2.9e-19 |
PFAM |
|
Pfam:Epimerase
|
24 |
233 |
5.5e-24 |
PFAM |
|
Pfam:Polysacc_synt_2
|
30 |
131 |
1.6e-9 |
PFAM |
|
Pfam:3Beta_HSD
|
33 |
233 |
9.5e-82 |
PFAM |
|
Pfam:NAD_binding_10
|
35 |
228 |
9.6e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.2377 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
93% (42/45) |
| 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 |
|---|
| Abca8b |
A |
G |
11: 109,833,071 (GRCm39) |
F1210L |
probably benign |
Het |
| Amfr |
C |
T |
8: 94,711,568 (GRCm39) |
A323T |
possibly damaging |
Het |
| Apob |
T |
A |
12: 8,065,445 (GRCm39) |
I4105N |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cdc42ep1 |
A |
G |
15: 78,734,091 (GRCm39) |
E397G |
possibly damaging |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,821,138 (GRCm39) |
T1250A |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,229,800 (GRCm39) |
K2642N |
probably benign |
Het |
| Emcn |
A |
T |
3: 137,085,608 (GRCm39) |
K69* |
probably null |
Het |
| Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
| Fbxo38 |
G |
T |
18: 62,659,320 (GRCm39) |
R326S |
probably damaging |
Het |
| Fcer1g |
A |
G |
1: 171,061,808 (GRCm39) |
S3P |
probably benign |
Het |
| Glp1r |
G |
T |
17: 31,137,949 (GRCm39) |
E127* |
probably null |
Het |
| Gnmt |
G |
T |
17: 47,039,910 (GRCm39) |
H56Q |
probably benign |
Het |
| Hectd4 |
C |
T |
5: 121,446,334 (GRCm39) |
T1513I |
possibly damaging |
Het |
| Kmt2c |
A |
T |
5: 25,515,210 (GRCm39) |
C2878S |
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,486,785 (GRCm39) |
Y1290C |
probably damaging |
Het |
| Mkln1 |
A |
G |
6: 31,403,707 (GRCm39) |
Y76C |
probably damaging |
Het |
| Mri1 |
C |
A |
8: 84,983,035 (GRCm39) |
A129S |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,977,407 (GRCm39) |
H1253L |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mthfsd |
C |
T |
8: 121,832,504 (GRCm39) |
V63I |
possibly damaging |
Het |
| Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,551,205 (GRCm39) |
V2653A |
probably benign |
Het |
| Nckap5 |
A |
T |
1: 125,842,472 (GRCm39) |
|
probably benign |
Het |
| Notch4 |
G |
A |
17: 34,802,807 (GRCm39) |
V1378M |
probably damaging |
Het |
| Or51a42 |
A |
G |
7: 103,708,507 (GRCm39) |
S101P |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rasl12 |
A |
G |
9: 65,305,866 (GRCm39) |
K7R |
probably null |
Het |
| Rnf4 |
A |
G |
5: 34,508,705 (GRCm39) |
Y189C |
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,088,858 (GRCm39) |
H536R |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
A |
C |
17: 51,089,369 (GRCm39) |
S604A |
probably damaging |
Het |
| Tcp11l1 |
A |
T |
2: 104,514,567 (GRCm39) |
V400E |
probably damaging |
Het |
| Tom1l2 |
G |
T |
11: 60,243,641 (GRCm39) |
|
probably benign |
Het |
| Ttc28 |
AC |
A |
5: 111,371,924 (GRCm39) |
|
probably null |
Het |
| Txndc15 |
A |
G |
13: 55,865,977 (GRCm39) |
D147G |
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 |
|
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'- TGGGCTCCATACTTTCCCAG -3'
(R):5'- GATGCATTTTGTACAAAGGGATGTG -3'
Sequencing Primer
(F):5'- GGTACTGTACCTTTCAGATTGACATC -3'
(R):5'- GGTGCTTCCTCATTCCTGATAACTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation