Incidental Mutation 'R2982:Hsd3b5'
| ID |
257094 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2982 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
98525950-98537568 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 98527116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 110
(D110V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044094]
|
| AlphaFold |
Q61694 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044094
AA Change: D110V
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041442
Gene: ENSMUSG00000038092
AA Change: D110V
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr1 |
T |
C |
8: 26,048,227 (GRCm39) |
F106L |
probably benign |
Het |
| Hpse2 |
T |
A |
19: 43,373,182 (GRCm39) |
D149V |
probably null |
Het |
| Klhl42 |
T |
C |
6: 146,993,114 (GRCm39) |
Y29H |
probably damaging |
Het |
| Klk1 |
G |
A |
7: 43,878,863 (GRCm39) |
C117Y |
probably damaging |
Het |
| Mfhas1 |
T |
C |
8: 36,058,269 (GRCm39) |
Y915H |
probably benign |
Het |
| Msantd2 |
A |
G |
9: 37,434,639 (GRCm39) |
Q293R |
probably damaging |
Het |
| Or1l4b |
G |
T |
2: 37,036,393 (GRCm39) |
M56I |
probably damaging |
Het |
| Or7a36 |
T |
C |
10: 78,820,274 (GRCm39) |
S217P |
probably damaging |
Het |
| Or9g20 |
T |
A |
2: 85,629,694 (GRCm39) |
I307F |
probably benign |
Het |
| Osgin1 |
T |
G |
8: 120,169,274 (GRCm39) |
L35R |
probably damaging |
Het |
| Rufy1 |
C |
T |
11: 50,310,535 (GRCm39) |
R210K |
possibly damaging |
Het |
| Spats2 |
T |
C |
15: 99,108,927 (GRCm39) |
S426P |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,938,756 (GRCm39) |
I28F |
possibly damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Zfp512 |
C |
A |
5: 31,634,122 (GRCm39) |
|
probably null |
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 |
|
IGL01930:Hsd3b5
|
APN |
3 |
98,529,475 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTTGTTGCCAGCACTGCC -3'
(R):5'- CCTTTCCAGAATATACATGTCACTC -3'
Sequencing Primer
(F):5'- GCCAGCACTGCCTTCTCAG -3'
(R):5'- CATGTCACTCTATGAATTTCAGAGTG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation