Incidental Mutation 'IGL01930:Hsd3b5'
ID |
180402 |
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: 0.062)
|
Stock # |
IGL01930
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
98525950-98537568 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98529475 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 52
(T52A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041442
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044094]
|
AlphaFold |
Q61694 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044094
AA Change: T52A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000041442 Gene: ENSMUSG00000038092 AA Change: T52A
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433N12Rik |
C |
T |
9: 3,134,875 (GRCm39) |
|
noncoding transcript |
Het |
Acsf3 |
A |
G |
8: 123,507,085 (GRCm39) |
Y126C |
probably benign |
Het |
Akr1c20 |
T |
A |
13: 4,557,647 (GRCm39) |
|
probably benign |
Het |
Cdan1 |
T |
C |
2: 120,557,063 (GRCm39) |
|
probably benign |
Het |
Cdc42bpg |
C |
T |
19: 6,361,398 (GRCm39) |
A308V |
probably damaging |
Het |
Dek |
T |
C |
13: 47,241,611 (GRCm39) |
I318V |
probably benign |
Het |
Dvl1 |
A |
G |
4: 155,940,645 (GRCm39) |
M422V |
possibly damaging |
Het |
Dync2i1 |
A |
G |
12: 116,189,583 (GRCm39) |
|
probably null |
Het |
Erbin |
G |
A |
13: 103,977,680 (GRCm39) |
L626F |
probably damaging |
Het |
Fa2h |
A |
T |
8: 112,075,936 (GRCm39) |
V229E |
possibly damaging |
Het |
Gfpt1 |
T |
A |
6: 87,036,397 (GRCm39) |
H193Q |
possibly damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gpr162 |
A |
G |
6: 124,838,575 (GRCm39) |
L25P |
possibly damaging |
Het |
Megf8 |
T |
A |
7: 25,034,286 (GRCm39) |
V668D |
probably damaging |
Het |
Or10j2 |
T |
C |
1: 173,098,177 (GRCm39) |
V145A |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,516,751 (GRCm39) |
T1042A |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,130,857 (GRCm39) |
S735P |
probably damaging |
Het |
Serpina3n |
T |
A |
12: 104,375,231 (GRCm39) |
L101H |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,145,978 (GRCm39) |
D1674G |
probably damaging |
Het |
Sval3 |
A |
G |
6: 41,949,455 (GRCm39) |
N98D |
probably benign |
Het |
Tbc1d16 |
G |
A |
11: 119,046,901 (GRCm39) |
R449C |
possibly damaging |
Het |
Tm7sf3 |
A |
C |
6: 146,512,431 (GRCm39) |
I321S |
possibly damaging |
Het |
Tmem273 |
G |
A |
14: 32,538,814 (GRCm39) |
E92K |
probably benign |
Het |
Trappc13 |
A |
G |
13: 104,284,586 (GRCm39) |
|
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Wdr76 |
A |
G |
2: 121,341,303 (GRCm39) |
D116G |
possibly damaging |
Het |
Zscan18 |
T |
C |
7: 12,509,275 (GRCm39) |
|
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 |
IGL02363:Hsd3b5
|
APN |
3 |
98,537,421 (GRCm39) |
missense |
probably benign |
0.08 |
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 |
2014-05-07 |