Incidental Mutation 'R2930:Hsd3b5'
ID |
264510 |
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 |
MMRRC Submission |
040512-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R2930 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
98525950-98537568 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 98526528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 306
(R306H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041442
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044094]
|
AlphaFold |
Q61694 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044094
AA Change: R306H
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000041442 Gene: ENSMUSG00000038092 AA Change: R306H
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: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
T |
2: 69,087,702 (GRCm39) |
V1021D |
probably damaging |
Het |
Abcc3 |
T |
C |
11: 94,252,636 (GRCm39) |
N749S |
probably damaging |
Het |
Adap1 |
T |
C |
5: 139,293,621 (GRCm39) |
D30G |
probably benign |
Het |
Camk2d |
C |
A |
3: 126,601,880 (GRCm39) |
H356Q |
possibly damaging |
Het |
Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
Cfap74 |
G |
A |
4: 155,522,627 (GRCm39) |
S671N |
probably damaging |
Het |
Cul7 |
C |
G |
17: 46,962,526 (GRCm39) |
D52E |
probably benign |
Het |
Dsn1 |
T |
C |
2: 156,847,381 (GRCm39) |
D19G |
probably damaging |
Het |
Fndc3b |
T |
C |
3: 27,524,435 (GRCm39) |
T442A |
probably benign |
Het |
Ilf3 |
A |
G |
9: 21,310,886 (GRCm39) |
K617E |
possibly damaging |
Het |
Krt75 |
C |
T |
15: 101,476,466 (GRCm39) |
R433Q |
probably benign |
Het |
Myrfl |
C |
T |
10: 116,653,652 (GRCm39) |
V472I |
probably damaging |
Het |
Plxna4 |
A |
G |
6: 32,142,715 (GRCm39) |
L1580P |
probably damaging |
Het |
Thop1 |
T |
C |
10: 80,909,148 (GRCm39) |
S60P |
probably damaging |
Het |
Tshz3 |
G |
A |
7: 36,471,017 (GRCm39) |
R1002Q |
possibly damaging |
Het |
Zbtb4 |
G |
T |
11: 69,667,342 (GRCm39) |
G216* |
probably null |
Het |
Zfp729b |
A |
G |
13: 67,739,973 (GRCm39) |
L764S |
probably benign |
Het |
Zmym4 |
T |
C |
4: 126,819,316 (GRCm39) |
S196G |
probably benign |
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 |
R2982:Hsd3b5
|
UTSW |
3 |
98,527,116 (GRCm39) |
missense |
possibly damaging |
0.88 |
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'- TGATAACACCCAGGGCCATG -3'
(R):5'- AGCATCCAAGGACAGTTCTATTAC -3'
Sequencing Primer
(F):5'- GTAGTGTCTCCCTGTGCTGC -3'
(R):5'- CCAAGGACAGTTCTATTACATCTCTG -3'
|
Posted On |
2015-02-05 |