Incidental Mutation 'IGL03381:Hsd3b6'
ID |
420679 |
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 # |
IGL03381
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
98712820-98721759 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98715128 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 88
(V88A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029463]
[ENSMUST00000170847]
|
AlphaFold |
O35469 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029463
AA Change: V88A
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000029463 Gene: ENSMUSG00000027869 AA Change: V88A
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 |
possibly damaging
Transcript: ENSMUST00000170847
AA Change: V88A
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000129911 Gene: ENSMUSG00000027869 AA Change: V88A
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A330017A19Rik |
T |
C |
17: 47,200,812 (GRCm39) |
|
probably benign |
Het |
Abca16 |
T |
C |
7: 120,127,041 (GRCm39) |
F1243S |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,666,086 (GRCm39) |
V1990A |
probably damaging |
Het |
Arhgdib |
G |
A |
6: 136,909,314 (GRCm39) |
T69I |
probably benign |
Het |
Atf2 |
G |
A |
2: 73,659,012 (GRCm39) |
A214V |
probably benign |
Het |
Ccr2 |
G |
A |
9: 123,906,409 (GRCm39) |
V230I |
probably benign |
Het |
Cnksr1 |
T |
C |
4: 133,959,482 (GRCm39) |
E384G |
probably damaging |
Het |
Epha5 |
T |
A |
5: 84,479,191 (GRCm39) |
D271V |
probably damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gpr15 |
A |
G |
16: 58,538,339 (GRCm39) |
F250S |
probably damaging |
Het |
Gzmf |
A |
T |
14: 56,444,450 (GRCm39) |
V41E |
probably benign |
Het |
H2-T10 |
C |
T |
17: 36,430,246 (GRCm39) |
D232N |
probably benign |
Het |
H2-T10 |
T |
A |
17: 36,430,249 (GRCm39) |
K231* |
probably null |
Het |
Kit |
C |
T |
5: 75,767,788 (GRCm39) |
T57M |
probably benign |
Het |
Klhl22 |
A |
G |
16: 17,610,591 (GRCm39) |
D614G |
possibly damaging |
Het |
Matr3 |
T |
A |
18: 35,712,078 (GRCm39) |
|
probably benign |
Het |
Mff |
A |
G |
1: 82,719,661 (GRCm39) |
Y213C |
probably damaging |
Het |
Mrnip |
A |
G |
11: 50,090,417 (GRCm39) |
T194A |
probably benign |
Het |
Msh6 |
T |
C |
17: 88,292,537 (GRCm39) |
F431L |
probably damaging |
Het |
Mttp |
G |
A |
3: 137,810,704 (GRCm39) |
R637C |
probably damaging |
Het |
Nlrc3 |
A |
G |
16: 3,782,179 (GRCm39) |
V410A |
probably benign |
Het |
Or4c120 |
A |
G |
2: 89,001,523 (GRCm39) |
I11T |
possibly damaging |
Het |
Or52a5b |
T |
C |
7: 103,417,044 (GRCm39) |
I187V |
probably benign |
Het |
Or5b108 |
T |
A |
19: 13,168,769 (GRCm39) |
V246D |
probably damaging |
Het |
Pramel21 |
T |
C |
4: 143,343,625 (GRCm39) |
|
probably benign |
Het |
Psip1 |
T |
C |
4: 83,404,022 (GRCm39) |
T2A |
probably benign |
Het |
Rbm33 |
T |
C |
5: 28,599,390 (GRCm39) |
F921L |
unknown |
Het |
Rhbdl2 |
T |
C |
4: 123,716,610 (GRCm39) |
V189A |
possibly damaging |
Het |
Rpap2 |
C |
T |
5: 107,768,067 (GRCm39) |
P302S |
probably benign |
Het |
Sec23ip |
T |
A |
7: 128,352,029 (GRCm39) |
V32D |
probably damaging |
Het |
Sh3yl1 |
T |
C |
12: 30,976,836 (GRCm39) |
I47T |
possibly damaging |
Het |
Spmip4 |
T |
C |
6: 50,566,116 (GRCm39) |
S120G |
probably damaging |
Het |
Tenm2 |
A |
C |
11: 35,959,238 (GRCm39) |
S1104A |
probably benign |
Het |
Ufd1 |
A |
G |
16: 18,644,507 (GRCm39) |
D190G |
probably damaging |
Het |
Ugt1a7c |
T |
C |
1: 88,023,512 (GRCm39) |
F224L |
probably benign |
Het |
Utp20 |
G |
T |
10: 88,657,867 (GRCm39) |
F64L |
probably damaging |
Het |
Vmn1r198 |
A |
G |
13: 22,539,006 (GRCm39) |
Y164C |
probably benign |
Het |
Wdcp |
T |
A |
12: 4,901,926 (GRCm39) |
V594D |
probably damaging |
Het |
Xirp2 |
A |
C |
2: 67,344,570 (GRCm39) |
E2270D |
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 |
IGL02030:Hsd3b6
|
APN |
3 |
98,713,489 (GRCm39) |
missense |
probably benign |
0.07 |
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 |
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 |
2016-08-02 |