Incidental Mutation 'R9333:Hsd3b3'
| ID |
711148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsd3b3
|
| Ensembl Gene |
ENSMUSG00000062410 |
| Gene Name |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 3 |
| Synonyms |
9030618K22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R9333 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
98648839-98670443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98649216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 369
(D369G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090743]
[ENSMUST00000094050]
[ENSMUST00000107018]
[ENSMUST00000107019]
[ENSMUST00000146196]
|
| AlphaFold |
P26150 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090743
AA Change: D369G
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000088246
Gene: ENSMUSG00000062410
AA Change: D369G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
5 |
132 |
8.2e-7 |
PFAM |
|
Pfam:adh_short
|
5 |
133 |
3.9e-8 |
PFAM |
|
Pfam:Polysacc_synt_2
|
6 |
134 |
3.5e-13 |
PFAM |
|
Pfam:NmrA
|
6 |
136 |
2.5e-8 |
PFAM |
|
Pfam:NAD_binding_10
|
6 |
237 |
5.8e-10 |
PFAM |
|
Pfam:Epimerase
|
6 |
256 |
1.4e-27 |
PFAM |
|
Pfam:3Beta_HSD
|
7 |
288 |
1.6e-114 |
PFAM |
|
Pfam:NAD_binding_4
|
8 |
220 |
1.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094050
AA Change: D314G
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000091592
Gene: ENSMUSG00000062410
AA Change: D314G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:3Beta_HSD
|
7 |
51 |
2e-12 |
PFAM |
|
Pfam:NAD_binding_4
|
39 |
162 |
7.4e-7 |
PFAM |
|
Pfam:Epimerase
|
43 |
201 |
2.1e-12 |
PFAM |
|
Pfam:3Beta_HSD
|
48 |
233 |
4.1e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107018
AA Change: D314G
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102632
Gene: ENSMUSG00000062410
AA Change: D314G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
5 |
132 |
8.2e-7 |
PFAM |
|
Pfam:adh_short
|
5 |
133 |
3.9e-8 |
PFAM |
|
Pfam:Polysacc_synt_2
|
6 |
134 |
3.5e-13 |
PFAM |
|
Pfam:NmrA
|
6 |
136 |
2.5e-8 |
PFAM |
|
Pfam:NAD_binding_10
|
6 |
237 |
5.8e-10 |
PFAM |
|
Pfam:Epimerase
|
6 |
256 |
1.4e-27 |
PFAM |
|
Pfam:3Beta_HSD
|
7 |
288 |
1.6e-114 |
PFAM |
|
Pfam:NAD_binding_4
|
8 |
220 |
1.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107019
AA Change: D369G
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102633
Gene: ENSMUSG00000062410
AA Change: D369G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Polysacc_synt_2
|
6 |
135 |
1.9e-13 |
PFAM |
|
Pfam:NmrA
|
6 |
137 |
5.6e-8 |
PFAM |
|
Pfam:Epimerase
|
6 |
250 |
2e-26 |
PFAM |
|
Pfam:GDP_Man_Dehyd
|
7 |
213 |
1.9e-13 |
PFAM |
|
Pfam:3Beta_HSD
|
7 |
288 |
4.3e-116 |
PFAM |
|
Pfam:NAD_binding_4
|
8 |
207 |
2.5e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146196
|
| SMART Domains |
Protein: ENSMUSP00000121360
Gene: ENSMUSG00000062410
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RmlD_sub_bind
|
4 |
174 |
1.9e-7 |
PFAM |
|
Pfam:adh_short
|
5 |
133 |
5.6e-9 |
PFAM |
|
Pfam:KR
|
5 |
133 |
9.5e-8 |
PFAM |
|
Pfam:Polysacc_synt_2
|
6 |
135 |
2.8e-14 |
PFAM |
|
Pfam:NmrA
|
6 |
137 |
1.8e-9 |
PFAM |
|
Pfam:Epimerase
|
6 |
187 |
2.2e-23 |
PFAM |
|
Pfam:NAD_binding_10
|
6 |
187 |
1.4e-10 |
PFAM |
|
Pfam:3Beta_HSD
|
7 |
187 |
9.3e-76 |
PFAM |
|
Pfam:NAD_binding_4
|
8 |
176 |
6.5e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196741
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
G |
T |
4: 123,754,416 (GRCm39) |
G110V |
probably benign |
Het |
| Abraxas1 |
T |
C |
5: 100,959,939 (GRCm39) |
S138G |
probably damaging |
Het |
| Aldoart1 |
C |
T |
4: 72,770,367 (GRCm39) |
R147H |
probably benign |
Het |
| Arfgef1 |
C |
A |
1: 10,222,037 (GRCm39) |
E1556* |
probably null |
Het |
| Arhgap39 |
C |
T |
15: 76,619,325 (GRCm39) |
R753H |
probably damaging |
Het |
| Asb2 |
G |
A |
12: 103,311,955 (GRCm39) |
Q56* |
probably null |
Het |
| Atp8b3 |
T |
C |
10: 80,360,180 (GRCm39) |
I964V |
probably benign |
Het |
| Baiap3 |
C |
A |
17: 25,467,676 (GRCm39) |
R338L |
possibly damaging |
Het |
| Clcn4 |
T |
A |
7: 7,292,192 (GRCm39) |
M540L |
probably damaging |
Het |
| Crbn |
T |
C |
6: 106,776,984 (GRCm39) |
H12R |
probably benign |
Het |
| D6Wsu163e |
A |
G |
6: 126,952,096 (GRCm39) |
Y530C |
probably damaging |
Het |
| Dolpp1 |
T |
A |
2: 30,287,140 (GRCm39) |
F191I |
probably damaging |
Het |
| Fam217a |
T |
C |
13: 35,100,876 (GRCm39) |
T94A |
probably benign |
Het |
| Fanci |
T |
C |
7: 79,067,594 (GRCm39) |
W347R |
possibly damaging |
Het |
| Fbxo39 |
A |
T |
11: 72,208,349 (GRCm39) |
N234Y |
probably damaging |
Het |
| Fbxo4 |
A |
G |
15: 3,998,502 (GRCm39) |
S319P |
probably benign |
Het |
| Gm14403 |
A |
G |
2: 177,200,919 (GRCm39) |
N46S |
probably benign |
Het |
| Grm2 |
C |
A |
9: 106,525,416 (GRCm39) |
R433L |
possibly damaging |
Het |
| Gtf2i |
C |
T |
5: 134,271,840 (GRCm39) |
D855N |
probably benign |
Het |
| Hcn2 |
T |
A |
10: 79,561,991 (GRCm39) |
M329K |
possibly damaging |
Het |
| Kctd12 |
T |
C |
14: 103,219,054 (GRCm39) |
K275E |
probably damaging |
Het |
| Klra4 |
T |
A |
6: 130,021,080 (GRCm39) |
K238N |
probably damaging |
Het |
| Kremen2 |
T |
A |
17: 23,962,775 (GRCm39) |
T104S |
probably damaging |
Het |
| Lmf2 |
G |
A |
15: 89,239,577 (GRCm39) |
L26F |
probably damaging |
Het |
| Mageb3 |
A |
T |
2: 121,784,973 (GRCm39) |
V243E |
probably damaging |
Het |
| Mfsd10 |
A |
G |
5: 34,792,427 (GRCm39) |
V258A |
probably damaging |
Het |
| Myh10 |
A |
C |
11: 68,680,980 (GRCm39) |
Q1007P |
probably benign |
Het |
| Ndufaf5 |
A |
G |
2: 140,035,513 (GRCm39) |
E243G |
probably benign |
Het |
| Or2ag16 |
T |
C |
7: 106,351,782 (GRCm39) |
D271G |
probably damaging |
Het |
| Orm3 |
T |
C |
4: 63,274,528 (GRCm39) |
I31T |
probably damaging |
Het |
| Pgm2 |
C |
A |
5: 64,263,100 (GRCm39) |
T249K |
probably benign |
Het |
| Prcp |
T |
C |
7: 92,577,894 (GRCm39) |
Y388H |
probably damaging |
Het |
| Prmt3 |
T |
G |
7: 49,456,308 (GRCm39) |
I306M |
probably damaging |
Het |
| Rag2 |
A |
T |
2: 101,460,752 (GRCm39) |
D354V |
probably benign |
Het |
| Reep1 |
A |
G |
6: 71,772,198 (GRCm39) |
D162G |
probably damaging |
Het |
| Rnpep |
A |
T |
1: 135,191,862 (GRCm39) |
W575R |
probably damaging |
Het |
| Rpl28 |
T |
C |
7: 4,796,079 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
C |
7: 28,774,214 (GRCm39) |
|
probably null |
Het |
| Spg11 |
G |
A |
2: 121,932,244 (GRCm39) |
R533C |
probably damaging |
Het |
| Tcf7l2 |
C |
A |
19: 55,919,928 (GRCm39) |
S487* |
probably null |
Het |
| Usp39 |
T |
C |
6: 72,314,710 (GRCm39) |
N232S |
probably benign |
Het |
| Vmn2r26 |
C |
T |
6: 124,003,009 (GRCm39) |
P140S |
probably benign |
Het |
| Vmn2r34 |
C |
T |
7: 7,675,367 (GRCm39) |
V674I |
probably benign |
Het |
|
| Other mutations in Hsd3b3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01551:Hsd3b3
|
APN |
3 |
98,649,216 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01776:Hsd3b3
|
APN |
3 |
98,651,163 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02189:Hsd3b3
|
APN |
3 |
98,649,454 (GRCm39) |
missense |
probably benign |
|
|
R0689:Hsd3b3
|
UTSW |
3 |
98,649,295 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0893:Hsd3b3
|
UTSW |
3 |
98,649,757 (GRCm39) |
splice site |
probably null |
|
|
R1759:Hsd3b3
|
UTSW |
3 |
98,649,399 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2008:Hsd3b3
|
UTSW |
3 |
98,649,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3931:Hsd3b3
|
UTSW |
3 |
98,649,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:Hsd3b3
|
UTSW |
3 |
98,649,396 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4664:Hsd3b3
|
UTSW |
3 |
98,649,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Hsd3b3
|
UTSW |
3 |
98,649,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4766:Hsd3b3
|
UTSW |
3 |
98,649,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Hsd3b3
|
UTSW |
3 |
98,649,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Hsd3b3
|
UTSW |
3 |
98,649,340 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5622:Hsd3b3
|
UTSW |
3 |
98,649,524 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6280:Hsd3b3
|
UTSW |
3 |
98,660,621 (GRCm39) |
splice site |
probably null |
|
|
R6348:Hsd3b3
|
UTSW |
3 |
98,663,265 (GRCm39) |
splice site |
probably null |
|
|
R7070:Hsd3b3
|
UTSW |
3 |
98,649,787 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7283:Hsd3b3
|
UTSW |
3 |
98,649,673 (GRCm39) |
nonsense |
probably null |
|
|
R7747:Hsd3b3
|
UTSW |
3 |
98,651,214 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8054:Hsd3b3
|
UTSW |
3 |
98,649,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8553:Hsd3b3
|
UTSW |
3 |
98,651,205 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9130:Hsd3b3
|
UTSW |
3 |
98,651,211 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9164:Hsd3b3
|
UTSW |
3 |
98,660,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Hsd3b3
|
UTSW |
3 |
98,651,276 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAAAGAAGGCTTGTGGC -3'
(R):5'- TGGAAACTGTGAGCTTCCTG -3'
Sequencing Primer
(F):5'- CTGGGTCAGTGACTGGCAAG -3'
(R):5'- CCTGCTGAGTCCAATCTACAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation