Incidental Mutation 'R8092:Hsd3b6'
| ID |
629933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsd3b6
|
| Ensembl Gene |
ENSMUSG00000027869 |
| Gene Name |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6 |
| Synonyms |
3beta-HSD VI |
| MMRRC Submission |
067524-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R8092 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
98712820-98721759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 98713456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 281
(D281V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029463]
[ENSMUST00000170847]
|
| AlphaFold |
O35469 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029463
AA Change: D281V
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029463
Gene: ENSMUSG00000027869
AA Change: D281V
| 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: D281V
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129911
Gene: ENSMUSG00000027869
AA Change: D281V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
T |
C |
12: 88,427,831 (GRCm39) |
S483P |
possibly damaging |
Het |
| Agr3 |
T |
A |
12: 35,997,593 (GRCm39) |
|
probably null |
Het |
| Anxa4 |
T |
C |
6: 86,718,873 (GRCm39) |
D282G |
probably damaging |
Het |
| Aplp2 |
A |
C |
9: 31,074,640 (GRCm39) |
|
probably null |
Het |
| Arfgef2 |
G |
A |
2: 166,701,754 (GRCm39) |
V714M |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,244,278 (GRCm39) |
F1393I |
probably benign |
Het |
| Cfap206 |
G |
A |
4: 34,728,897 (GRCm39) |
P3S |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,463,261 (GRCm39) |
D1410E |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,455,184 (GRCm39) |
Y1101C |
probably damaging |
Het |
| Chtf8 |
A |
G |
8: 107,612,938 (GRCm39) |
V121A |
possibly damaging |
Het |
| Dnajc3 |
A |
T |
14: 119,207,994 (GRCm39) |
|
probably null |
Het |
| Dpys |
C |
T |
15: 39,710,010 (GRCm39) |
D140N |
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,415,029 (GRCm39) |
Y642C |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,272,513 (GRCm39) |
V901I |
probably damaging |
Het |
| Gm45861 |
T |
C |
8: 28,057,823 (GRCm39) |
M1127T |
unknown |
Het |
| Gnpnat1 |
A |
G |
14: 45,618,388 (GRCm39) |
|
probably null |
Het |
| Kng2 |
T |
A |
16: 22,806,672 (GRCm39) |
Q509L |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,726,880 (GRCm39) |
D52E |
probably benign |
Het |
| Ly6g6c |
A |
G |
17: 35,287,867 (GRCm39) |
Y27C |
probably damaging |
Het |
| Mcc |
G |
A |
18: 44,892,299 (GRCm39) |
T105I |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,801,891 (GRCm39) |
K1279E |
probably benign |
Het |
| Ntmt2 |
A |
G |
1: 163,544,819 (GRCm39) |
Y55H |
probably damaging |
Het |
| Ntn4 |
A |
C |
10: 93,576,918 (GRCm39) |
K529Q |
probably damaging |
Het |
| Or4f57 |
C |
A |
2: 111,790,652 (GRCm39) |
M255I |
probably benign |
Het |
| P2ry14 |
C |
T |
3: 59,022,867 (GRCm39) |
V198M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,727,560 (GRCm39) |
D2139E |
unknown |
Het |
| Plxnb1 |
T |
A |
9: 108,929,573 (GRCm39) |
V143E |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,097,357 (GRCm39) |
D954Y |
probably damaging |
Het |
| Qrsl1 |
G |
A |
10: 43,760,749 (GRCm39) |
P278L |
probably damaging |
Het |
| Rnf17 |
C |
T |
14: 56,724,479 (GRCm39) |
R1108C |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,145,907 (GRCm39) |
S1716G |
probably benign |
Het |
| Slfn4 |
A |
T |
11: 83,079,831 (GRCm39) |
H507L |
probably benign |
Het |
| Snx18 |
T |
C |
13: 113,753,685 (GRCm39) |
E416G |
probably damaging |
Het |
| Srp9 |
T |
C |
1: 181,959,001 (GRCm39) |
V81A |
probably benign |
Het |
| Tex101 |
G |
A |
7: 24,369,778 (GRCm39) |
T62M |
probably damaging |
Het |
| Utp25 |
G |
A |
1: 192,802,671 (GRCm39) |
L349F |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Zbtb42 |
G |
T |
12: 112,646,275 (GRCm39) |
C150F |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGACAAGTGGCTCATAGC -3'
(R):5'- CGGTTGTACGGGCAAATTC -3'
Sequencing Primer
(F):5'- TCATAGCCCAGATCTCGCTGAG -3'
(R):5'- GTTGTACGGGCAAATTCTCCACAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation