Incidental Mutation 'IGL01776:Hsd3b3'
| ID |
153865 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hsd3b3
|
| Ensembl Gene |
ENSMUSG00000062410 |
| Gene Name |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 3 |
| Synonyms |
9030618K22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL01776
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
98648839-98670443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98651163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 96
(T96A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090743]
[ENSMUST00000094050]
[ENSMUST00000107018]
[ENSMUST00000107019]
[ENSMUST00000146196]
|
| AlphaFold |
P26150 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090743
AA Change: T96A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000088246
Gene: ENSMUSG00000062410
AA Change: T96A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
5 |
132 |
8.2e-7 |
PFAM |
|
Pfam:adh_short
|
5 |
133 |
3.9e-8 |
PFAM |
|
Pfam:Polysacc_synt_2
|
6 |
134 |
3.5e-13 |
PFAM |
|
Pfam:NmrA
|
6 |
136 |
2.5e-8 |
PFAM |
|
Pfam:NAD_binding_10
|
6 |
237 |
5.8e-10 |
PFAM |
|
Pfam:Epimerase
|
6 |
256 |
1.4e-27 |
PFAM |
|
Pfam:3Beta_HSD
|
7 |
288 |
1.6e-114 |
PFAM |
|
Pfam:NAD_binding_4
|
8 |
220 |
1.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094050
|
| SMART Domains |
Protein: ENSMUSP00000091592
Gene: ENSMUSG00000062410
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:3Beta_HSD
|
7 |
51 |
2e-12 |
PFAM |
|
Pfam:NAD_binding_4
|
39 |
162 |
7.4e-7 |
PFAM |
|
Pfam:Epimerase
|
43 |
201 |
2.1e-12 |
PFAM |
|
Pfam:3Beta_HSD
|
48 |
233 |
4.1e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107018
|
| SMART Domains |
Protein: ENSMUSP00000102632
Gene: ENSMUSG00000062410
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
5 |
132 |
8.2e-7 |
PFAM |
|
Pfam:adh_short
|
5 |
133 |
3.9e-8 |
PFAM |
|
Pfam:Polysacc_synt_2
|
6 |
134 |
3.5e-13 |
PFAM |
|
Pfam:NmrA
|
6 |
136 |
2.5e-8 |
PFAM |
|
Pfam:NAD_binding_10
|
6 |
237 |
5.8e-10 |
PFAM |
|
Pfam:Epimerase
|
6 |
256 |
1.4e-27 |
PFAM |
|
Pfam:3Beta_HSD
|
7 |
288 |
1.6e-114 |
PFAM |
|
Pfam:NAD_binding_4
|
8 |
220 |
1.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107019
AA Change: T96A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000102633
Gene: ENSMUSG00000062410
AA Change: T96A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Polysacc_synt_2
|
6 |
135 |
1.9e-13 |
PFAM |
|
Pfam:NmrA
|
6 |
137 |
5.6e-8 |
PFAM |
|
Pfam:Epimerase
|
6 |
250 |
2e-26 |
PFAM |
|
Pfam:GDP_Man_Dehyd
|
7 |
213 |
1.9e-13 |
PFAM |
|
Pfam:3Beta_HSD
|
7 |
288 |
4.3e-116 |
PFAM |
|
Pfam:NAD_binding_4
|
8 |
207 |
2.5e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146196
AA Change: T96A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000121360
Gene: ENSMUSG00000062410
AA Change: T96A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RmlD_sub_bind
|
4 |
174 |
1.9e-7 |
PFAM |
|
Pfam:adh_short
|
5 |
133 |
5.6e-9 |
PFAM |
|
Pfam:KR
|
5 |
133 |
9.5e-8 |
PFAM |
|
Pfam:Polysacc_synt_2
|
6 |
135 |
2.8e-14 |
PFAM |
|
Pfam:NmrA
|
6 |
137 |
1.8e-9 |
PFAM |
|
Pfam:Epimerase
|
6 |
187 |
2.2e-23 |
PFAM |
|
Pfam:NAD_binding_10
|
6 |
187 |
1.4e-10 |
PFAM |
|
Pfam:3Beta_HSD
|
7 |
187 |
9.3e-76 |
PFAM |
|
Pfam:NAD_binding_4
|
8 |
176 |
6.5e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196741
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
G |
A |
5: 90,431,223 (GRCm39) |
Q854* |
probably null |
Het |
| Armc8 |
A |
G |
9: 99,408,936 (GRCm39) |
|
probably benign |
Het |
| Chrna7 |
A |
G |
7: 62,749,267 (GRCm39) |
V405A |
probably benign |
Het |
| Col8a2 |
C |
A |
4: 126,203,598 (GRCm39) |
|
probably benign |
Het |
| Dcn |
A |
G |
10: 97,330,938 (GRCm39) |
I91V |
possibly damaging |
Het |
| Dock7 |
T |
A |
4: 98,829,178 (GRCm39) |
R2069S |
possibly damaging |
Het |
| Gm7247 |
A |
G |
14: 51,759,356 (GRCm39) |
S112G |
possibly damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,547,789 (GRCm39) |
T2721P |
possibly damaging |
Het |
| Ifi207 |
G |
A |
1: 173,552,610 (GRCm39) |
L936F |
probably damaging |
Het |
| Kcp |
G |
A |
6: 29,497,907 (GRCm39) |
P477S |
probably damaging |
Het |
| Mei1 |
T |
C |
15: 81,980,133 (GRCm39) |
|
probably null |
Het |
| Mgmt |
T |
A |
7: 136,723,293 (GRCm39) |
L121* |
probably null |
Het |
| Mrps35 |
G |
A |
6: 146,972,214 (GRCm39) |
V286I |
probably benign |
Het |
| Naxd |
T |
C |
8: 11,555,525 (GRCm39) |
|
probably null |
Het |
| Pam |
A |
G |
1: 97,813,325 (GRCm39) |
|
probably null |
Het |
| Plcxd1 |
G |
A |
5: 110,249,246 (GRCm39) |
|
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,117,321 (GRCm39) |
|
probably null |
Het |
| Spag9 |
C |
T |
11: 94,007,553 (GRCm39) |
|
probably benign |
Het |
| Spire2 |
T |
C |
8: 124,086,131 (GRCm39) |
S288P |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,504,465 (GRCm39) |
V322A |
probably benign |
Het |
| Syt17 |
A |
C |
7: 118,009,176 (GRCm39) |
L343R |
probably damaging |
Het |
| Tap1 |
G |
A |
17: 34,412,102 (GRCm39) |
V436I |
possibly damaging |
Het |
| Virma |
C |
T |
4: 11,527,792 (GRCm39) |
R1228C |
probably damaging |
Het |
|
| Other mutations in Hsd3b3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01551:Hsd3b3
|
APN |
3 |
98,649,216 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02189:Hsd3b3
|
APN |
3 |
98,649,454 (GRCm39) |
missense |
probably benign |
|
|
R0689:Hsd3b3
|
UTSW |
3 |
98,649,295 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0893:Hsd3b3
|
UTSW |
3 |
98,649,757 (GRCm39) |
splice site |
probably null |
|
|
R1759:Hsd3b3
|
UTSW |
3 |
98,649,399 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2008:Hsd3b3
|
UTSW |
3 |
98,649,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3931:Hsd3b3
|
UTSW |
3 |
98,649,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:Hsd3b3
|
UTSW |
3 |
98,649,396 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4664:Hsd3b3
|
UTSW |
3 |
98,649,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Hsd3b3
|
UTSW |
3 |
98,649,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4766:Hsd3b3
|
UTSW |
3 |
98,649,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Hsd3b3
|
UTSW |
3 |
98,649,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Hsd3b3
|
UTSW |
3 |
98,649,340 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5622:Hsd3b3
|
UTSW |
3 |
98,649,524 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6280:Hsd3b3
|
UTSW |
3 |
98,660,621 (GRCm39) |
splice site |
probably null |
|
|
R6348:Hsd3b3
|
UTSW |
3 |
98,663,265 (GRCm39) |
splice site |
probably null |
|
|
R7070:Hsd3b3
|
UTSW |
3 |
98,649,787 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7283:Hsd3b3
|
UTSW |
3 |
98,649,673 (GRCm39) |
nonsense |
probably null |
|
|
R7747:Hsd3b3
|
UTSW |
3 |
98,651,214 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8054:Hsd3b3
|
UTSW |
3 |
98,649,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8553:Hsd3b3
|
UTSW |
3 |
98,651,205 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9130:Hsd3b3
|
UTSW |
3 |
98,651,211 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9164:Hsd3b3
|
UTSW |
3 |
98,660,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9333:Hsd3b3
|
UTSW |
3 |
98,649,216 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Hsd3b3
|
UTSW |
3 |
98,651,276 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-02-04 |
Incidental Mutation