Incidental Mutation 'IGL02030:Hsd3b6'
| ID |
184333 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hsd3b6
|
| Ensembl Gene |
ENSMUSG00000027869 |
| Gene Name |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6 |
| Synonyms |
3beta-HSD VI |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL02030
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
98712820-98721759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98713489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 270
(Y270C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029463]
[ENSMUST00000170847]
|
| AlphaFold |
O35469 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029463
AA Change: Y270C
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000029463
Gene: ENSMUSG00000027869
AA Change: Y270C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Polysacc_synt_2
|
6 |
135 |
1.2e-13 |
PFAM |
|
Pfam:NmrA
|
6 |
136 |
6.3e-8 |
PFAM |
|
Pfam:Epimerase
|
6 |
250 |
1.4e-26 |
PFAM |
|
Pfam:GDP_Man_Dehyd
|
7 |
212 |
1.3e-13 |
PFAM |
|
Pfam:3Beta_HSD
|
7 |
288 |
5.9e-114 |
PFAM |
|
Pfam:NAD_binding_4
|
8 |
225 |
1.4e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170847
AA Change: Y270C
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000129911
Gene: ENSMUSG00000027869
AA Change: Y270C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
5 |
131 |
5.6e-7 |
PFAM |
|
Pfam:adh_short
|
5 |
133 |
2.7e-8 |
PFAM |
|
Pfam:Polysacc_synt_2
|
6 |
135 |
2.2e-13 |
PFAM |
|
Pfam:NmrA
|
6 |
136 |
2.3e-8 |
PFAM |
|
Pfam:NAD_binding_10
|
6 |
221 |
2.3e-10 |
PFAM |
|
Pfam:Epimerase
|
6 |
256 |
4.5e-27 |
PFAM |
|
Pfam:3Beta_HSD
|
7 |
288 |
1.9e-113 |
PFAM |
|
Pfam:NAD_binding_4
|
8 |
226 |
2.7e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196706
|
| 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 |
|---|
| Adam26a |
T |
C |
8: 44,021,894 (GRCm39) |
D532G |
probably benign |
Het |
| Adam29 |
C |
T |
8: 56,325,157 (GRCm39) |
M432I |
probably benign |
Het |
| Cbs |
A |
G |
17: 31,844,463 (GRCm39) |
|
probably null |
Het |
| Ccer1 |
A |
G |
10: 97,529,472 (GRCm39) |
Y45C |
unknown |
Het |
| Clu |
G |
A |
14: 66,213,240 (GRCm39) |
G209S |
probably benign |
Het |
| Ddx17 |
T |
C |
15: 79,414,577 (GRCm39) |
D530G |
probably benign |
Het |
| Ddx4 |
T |
C |
13: 112,761,311 (GRCm39) |
|
probably benign |
Het |
| Fry |
C |
T |
5: 150,395,083 (GRCm39) |
|
probably benign |
Het |
| Fut10 |
C |
T |
8: 31,726,006 (GRCm39) |
Q254* |
probably null |
Het |
| Gucy2e |
A |
G |
11: 69,114,642 (GRCm39) |
F1002S |
probably damaging |
Het |
| Jup |
A |
G |
11: 100,267,817 (GRCm39) |
I502T |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,652,531 (GRCm39) |
|
probably null |
Het |
| Mei1 |
T |
C |
15: 81,999,944 (GRCm39) |
V1127A |
probably benign |
Het |
| Ncstn |
A |
T |
1: 171,900,024 (GRCm39) |
|
probably benign |
Het |
| Nin |
T |
C |
12: 70,092,042 (GRCm39) |
R756G |
probably damaging |
Het |
| Notch2 |
C |
A |
3: 98,006,737 (GRCm39) |
|
probably null |
Het |
| Oacyl |
T |
C |
18: 65,870,981 (GRCm39) |
V394A |
probably damaging |
Het |
| Or1j19 |
A |
G |
2: 36,677,410 (GRCm39) |
Y291C |
probably damaging |
Het |
| Or5b21 |
T |
C |
19: 12,839,799 (GRCm39) |
F220S |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,545 (GRCm39) |
I46T |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,482,514 (GRCm39) |
|
probably null |
Het |
| Rspo3 |
T |
G |
10: 29,376,044 (GRCm39) |
E173A |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,416,095 (GRCm39) |
V467E |
possibly damaging |
Het |
| Sema7a |
G |
A |
9: 57,862,423 (GRCm39) |
E209K |
possibly damaging |
Het |
| Uchl4 |
T |
C |
9: 64,142,911 (GRCm39) |
S131P |
probably benign |
Het |
| Usp54 |
T |
C |
14: 20,616,014 (GRCm39) |
I769V |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,339,325 (GRCm39) |
M522T |
probably benign |
Het |
|
| Other mutations in Hsd3b6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00693:Hsd3b6
|
APN |
3 |
98,713,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00940:Hsd3b6
|
APN |
3 |
98,713,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02385:Hsd3b6
|
APN |
3 |
98,713,888 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02819:Hsd3b6
|
APN |
3 |
98,718,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03381:Hsd3b6
|
APN |
3 |
98,715,128 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1444:Hsd3b6
|
UTSW |
3 |
98,715,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1472:Hsd3b6
|
UTSW |
3 |
98,715,255 (GRCm39) |
splice site |
probably null |
|
|
R1996:Hsd3b6
|
UTSW |
3 |
98,713,597 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2101:Hsd3b6
|
UTSW |
3 |
98,713,553 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2108:Hsd3b6
|
UTSW |
3 |
98,713,503 (GRCm39) |
nonsense |
probably null |
|
|
R4579:Hsd3b6
|
UTSW |
3 |
98,713,541 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4628:Hsd3b6
|
UTSW |
3 |
98,713,895 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4808:Hsd3b6
|
UTSW |
3 |
98,713,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850:Hsd3b6
|
UTSW |
3 |
98,715,221 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5093:Hsd3b6
|
UTSW |
3 |
98,715,120 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6221:Hsd3b6
|
UTSW |
3 |
98,713,849 (GRCm39) |
missense |
probably benign |
|
|
R6333:Hsd3b6
|
UTSW |
3 |
98,713,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6928:Hsd3b6
|
UTSW |
3 |
98,718,269 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7404:Hsd3b6
|
UTSW |
3 |
98,713,534 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7814:Hsd3b6
|
UTSW |
3 |
98,718,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8092:Hsd3b6
|
UTSW |
3 |
98,713,456 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9055:Hsd3b6
|
UTSW |
3 |
98,713,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9249:Hsd3b6
|
UTSW |
3 |
98,713,679 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9714:Hsd3b6
|
UTSW |
3 |
98,713,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF001:Hsd3b6
|
UTSW |
3 |
98,713,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0023:Hsd3b6
|
UTSW |
3 |
98,713,849 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Hsd3b6
|
UTSW |
3 |
98,713,648 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Posted On |
2014-05-07 |
Incidental Mutation