Incidental Mutation 'IGL02363:Hsd3b5'
ID |
290612 |
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 # |
IGL02363
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
98525950-98537568 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98537421 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 32
(I32V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041442
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044094]
|
AlphaFold |
Q61694 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044094
AA Change: I32V
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000041442 Gene: ENSMUSG00000038092 AA Change: I32V
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak8 |
T |
C |
2: 28,702,910 (GRCm39) |
S425P |
probably damaging |
Het |
Comt |
T |
C |
16: 18,229,881 (GRCm39) |
D153G |
probably benign |
Het |
Cplane1 |
A |
T |
15: 8,247,921 (GRCm39) |
H1490L |
possibly damaging |
Het |
Exoc6 |
T |
C |
19: 37,597,402 (GRCm39) |
I601T |
probably damaging |
Het |
F11 |
A |
T |
8: 45,694,568 (GRCm39) |
C598S |
probably damaging |
Het |
Galnt13 |
G |
T |
2: 55,002,872 (GRCm39) |
D524Y |
probably damaging |
Het |
Glb1l3 |
T |
C |
9: 26,764,940 (GRCm39) |
E157G |
probably damaging |
Het |
Hc |
T |
C |
2: 34,890,847 (GRCm39) |
H1323R |
probably benign |
Het |
Il6ra |
A |
G |
3: 89,778,560 (GRCm39) |
S430P |
probably benign |
Het |
Lama2 |
G |
T |
10: 27,242,062 (GRCm39) |
T298K |
probably damaging |
Het |
Nedd4l |
T |
C |
18: 65,341,116 (GRCm39) |
|
probably benign |
Het |
Ntrk3 |
T |
C |
7: 78,103,085 (GRCm39) |
D405G |
probably benign |
Het |
Opn5 |
T |
C |
17: 42,868,382 (GRCm39) |
D371G |
probably benign |
Het |
Pcdh15 |
G |
T |
10: 74,152,918 (GRCm39) |
A408S |
probably damaging |
Het |
Pim3 |
T |
C |
15: 88,747,116 (GRCm39) |
V54A |
probably benign |
Het |
Prdm5 |
T |
C |
6: 65,771,303 (GRCm39) |
F38S |
probably damaging |
Het |
Ptgs2 |
C |
T |
1: 149,981,460 (GRCm39) |
|
probably null |
Het |
Rnf185 |
A |
G |
11: 3,368,015 (GRCm39) |
I221T |
possibly damaging |
Het |
Slc27a2 |
T |
C |
2: 126,420,870 (GRCm39) |
F318L |
possibly damaging |
Het |
Spata1 |
T |
C |
3: 146,193,119 (GRCm39) |
Y124C |
possibly damaging |
Het |
Tmie |
G |
T |
9: 110,699,821 (GRCm39) |
|
probably benign |
Het |
Tph2 |
T |
C |
10: 114,915,886 (GRCm39) |
K429R |
probably benign |
Het |
Usp32 |
A |
G |
11: 84,935,613 (GRCm39) |
Y388H |
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,844,578 (GRCm39) |
Q647L |
probably benign |
Het |
|
Other mutations in Hsd3b5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00730:Hsd3b5
|
APN |
3 |
98,537,373 (GRCm39) |
missense |
probably benign |
0.05 |
IGL00827:Hsd3b5
|
APN |
3 |
98,537,414 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01530:Hsd3b5
|
APN |
3 |
98,526,439 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01930:Hsd3b5
|
APN |
3 |
98,529,475 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02396:Hsd3b5
|
APN |
3 |
98,529,343 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02448:Hsd3b5
|
APN |
3 |
98,529,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R0045:Hsd3b5
|
UTSW |
3 |
98,526,460 (GRCm39) |
missense |
probably benign |
|
R0624:Hsd3b5
|
UTSW |
3 |
98,526,720 (GRCm39) |
missense |
probably damaging |
0.98 |
R0745:Hsd3b5
|
UTSW |
3 |
98,526,855 (GRCm39) |
missense |
probably benign |
0.12 |
R0848:Hsd3b5
|
UTSW |
3 |
98,526,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R1112:Hsd3b5
|
UTSW |
3 |
98,537,393 (GRCm39) |
missense |
probably benign |
0.00 |
R1454:Hsd3b5
|
UTSW |
3 |
98,526,846 (GRCm39) |
missense |
probably benign |
0.01 |
R1631:Hsd3b5
|
UTSW |
3 |
98,529,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R1657:Hsd3b5
|
UTSW |
3 |
98,527,036 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1839:Hsd3b5
|
UTSW |
3 |
98,527,044 (GRCm39) |
missense |
probably benign |
0.30 |
R2930:Hsd3b5
|
UTSW |
3 |
98,526,528 (GRCm39) |
missense |
probably benign |
0.03 |
R2982:Hsd3b5
|
UTSW |
3 |
98,527,116 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3158:Hsd3b5
|
UTSW |
3 |
98,529,375 (GRCm39) |
missense |
probably benign |
0.00 |
R4573:Hsd3b5
|
UTSW |
3 |
98,526,964 (GRCm39) |
missense |
probably benign |
0.04 |
R4941:Hsd3b5
|
UTSW |
3 |
98,526,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R5104:Hsd3b5
|
UTSW |
3 |
98,526,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R5416:Hsd3b5
|
UTSW |
3 |
98,526,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R6311:Hsd3b5
|
UTSW |
3 |
98,537,406 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6861:Hsd3b5
|
UTSW |
3 |
98,529,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R7307:Hsd3b5
|
UTSW |
3 |
98,527,085 (GRCm39) |
missense |
probably damaging |
0.97 |
R7339:Hsd3b5
|
UTSW |
3 |
98,529,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R7615:Hsd3b5
|
UTSW |
3 |
98,537,420 (GRCm39) |
missense |
probably damaging |
0.99 |
R7673:Hsd3b5
|
UTSW |
3 |
98,526,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R7883:Hsd3b5
|
UTSW |
3 |
98,529,456 (GRCm39) |
missense |
probably benign |
0.00 |
R8398:Hsd3b5
|
UTSW |
3 |
98,526,720 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9218:Hsd3b5
|
UTSW |
3 |
98,526,354 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2015-04-16 |