Incidental Mutation 'IGL00827:Hsd3b5'
| ID |
11358 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hsd3b5
|
| Ensembl Gene |
ENSMUSG00000038092 |
| Gene Name |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 5 |
| Synonyms |
3(beta)HSDV |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL00827
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
98618634-98630252 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98630098 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 34
(A34V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044094]
|
| AlphaFold |
Q61694 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044094
AA Change: A34V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041442
Gene: ENSMUSG00000038092
AA Change: A34V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RmlD_sub_bind
|
4 |
261 |
1.8e-8 |
PFAM |
|
Pfam:KR
|
5 |
133 |
3.2e-8 |
PFAM |
|
Pfam:Polysacc_synt_2
|
6 |
134 |
5.9e-12 |
PFAM |
|
Pfam:NmrA
|
6 |
147 |
2.7e-12 |
PFAM |
|
Pfam:Epimerase
|
6 |
249 |
1.2e-23 |
PFAM |
|
Pfam:GDP_Man_Dehyd
|
7 |
187 |
5.6e-12 |
PFAM |
|
Pfam:3Beta_HSD
|
7 |
288 |
2e-105 |
PFAM |
|
Pfam:NAD_binding_4
|
8 |
220 |
3.1e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196741
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
G |
13: 59,689,476 (GRCm38) |
V265A |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,713,559 (GRCm38) |
D803E |
possibly damaging |
Het |
| Camk1d |
G |
A |
2: 5,311,073 (GRCm38) |
|
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,448,457 (GRCm38) |
K3075E |
probably damaging |
Het |
| Dnmt3l |
T |
C |
10: 78,053,996 (GRCm38) |
L229P |
probably damaging |
Het |
| Dntt |
G |
A |
19: 41,039,823 (GRCm38) |
G186D |
probably benign |
Het |
| Epdr1 |
A |
G |
13: 19,594,509 (GRCm38) |
I139T |
possibly damaging |
Het |
| Fam20a |
A |
T |
11: 109,677,762 (GRCm38) |
|
probably benign |
Het |
| Hcar2 |
T |
C |
5: 123,864,502 (GRCm38) |
K313E |
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,997,114 (GRCm38) |
C323S |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,755,790 (GRCm38) |
I1513F |
probably damaging |
Het |
| Parp3 |
T |
A |
9: 106,474,406 (GRCm38) |
M208L |
probably benign |
Het |
| Ppp4r4 |
A |
G |
12: 103,579,076 (GRCm38) |
T203A |
probably benign |
Het |
| Rims2 |
G |
A |
15: 39,472,359 (GRCm38) |
G788D |
probably damaging |
Het |
| Slc4a4 |
T |
G |
5: 89,179,686 (GRCm38) |
S626A |
probably benign |
Het |
| Steap4 |
A |
G |
5: 7,976,712 (GRCm38) |
Y225C |
probably damaging |
Het |
|
| Other mutations in Hsd3b5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00730:Hsd3b5
|
APN |
3 |
98,630,057 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL01530:Hsd3b5
|
APN |
3 |
98,619,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01930:Hsd3b5
|
APN |
3 |
98,622,159 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02363:Hsd3b5
|
APN |
3 |
98,630,105 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02396:Hsd3b5
|
APN |
3 |
98,622,027 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02448:Hsd3b5
|
APN |
3 |
98,622,131 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0045:Hsd3b5
|
UTSW |
3 |
98,619,144 (GRCm38) |
missense |
probably benign |
|
|
R0624:Hsd3b5
|
UTSW |
3 |
98,619,404 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0745:Hsd3b5
|
UTSW |
3 |
98,619,539 (GRCm38) |
missense |
probably benign |
0.12 |
|
R0848:Hsd3b5
|
UTSW |
3 |
98,619,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1112:Hsd3b5
|
UTSW |
3 |
98,630,077 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1454:Hsd3b5
|
UTSW |
3 |
98,619,530 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1631:Hsd3b5
|
UTSW |
3 |
98,622,077 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1657:Hsd3b5
|
UTSW |
3 |
98,619,720 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1839:Hsd3b5
|
UTSW |
3 |
98,619,728 (GRCm38) |
missense |
probably benign |
0.30 |
|
R2930:Hsd3b5
|
UTSW |
3 |
98,619,212 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2982:Hsd3b5
|
UTSW |
3 |
98,619,800 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3158:Hsd3b5
|
UTSW |
3 |
98,622,059 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4573:Hsd3b5
|
UTSW |
3 |
98,619,648 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4941:Hsd3b5
|
UTSW |
3 |
98,619,063 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5104:Hsd3b5
|
UTSW |
3 |
98,619,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5416:Hsd3b5
|
UTSW |
3 |
98,619,150 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6311:Hsd3b5
|
UTSW |
3 |
98,630,090 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R6861:Hsd3b5
|
UTSW |
3 |
98,622,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7307:Hsd3b5
|
UTSW |
3 |
98,619,769 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7339:Hsd3b5
|
UTSW |
3 |
98,622,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7615:Hsd3b5
|
UTSW |
3 |
98,630,104 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7673:Hsd3b5
|
UTSW |
3 |
98,619,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7883:Hsd3b5
|
UTSW |
3 |
98,622,140 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8398:Hsd3b5
|
UTSW |
3 |
98,619,404 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9218:Hsd3b5
|
UTSW |
3 |
98,619,038 (GRCm38) |
missense |
probably benign |
0.03 |
|
| Posted On |
2012-12-06 |
Incidental Mutation