Incidental Mutation 'R6311:Hsd3b5'
| ID |
509764 |
| 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 |
044469-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6311 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
98525950-98537568 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98537406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 37
(R37G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044094]
|
| AlphaFold |
Q61694 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044094
AA Change: R37G
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000041442
Gene: ENSMUSG00000038092
AA Change: R37G
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
G |
13: 68,773,911 (GRCm39) |
I1044T |
probably damaging |
Het |
| Arhgef4 |
T |
G |
1: 34,763,062 (GRCm39) |
F773V |
unknown |
Het |
| B4galnt4 |
A |
G |
7: 140,648,572 (GRCm39) |
N696S |
probably damaging |
Het |
| Cdh16 |
T |
A |
8: 105,341,065 (GRCm39) |
D786V |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 100,127,527 (GRCm39) |
Y28C |
probably damaging |
Het |
| Cgn |
C |
T |
3: 94,685,486 (GRCm39) |
|
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Chst10 |
A |
G |
1: 38,907,128 (GRCm39) |
V174A |
probably damaging |
Het |
| Clca4a |
T |
A |
3: 144,672,174 (GRCm39) |
N256I |
probably damaging |
Het |
| Cntnap5a |
G |
A |
1: 116,339,836 (GRCm39) |
W698* |
probably null |
Het |
| Ddx24 |
C |
A |
12: 103,390,166 (GRCm39) |
R275L |
probably damaging |
Het |
| Dnmt3b |
G |
T |
2: 153,515,925 (GRCm39) |
G444V |
probably damaging |
Het |
| Ermn |
A |
G |
2: 57,941,771 (GRCm39) |
F109S |
probably damaging |
Het |
| Fam227a |
C |
T |
15: 79,524,895 (GRCm39) |
A190T |
probably benign |
Het |
| Fstl4 |
T |
C |
11: 53,067,804 (GRCm39) |
W556R |
probably damaging |
Het |
| Fut2 |
T |
A |
7: 45,299,804 (GRCm39) |
I323F |
possibly damaging |
Het |
| Grik2 |
T |
G |
10: 49,454,234 (GRCm39) |
K94Q |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,648,816 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
A |
T |
10: 103,009,254 (GRCm39) |
D1076E |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,922,765 (GRCm39) |
I590N |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,500,176 (GRCm39) |
L940P |
possibly damaging |
Het |
| Nr6a1 |
T |
C |
2: 38,629,083 (GRCm39) |
I257V |
possibly damaging |
Het |
| Or5b100-ps1 |
T |
A |
19: 12,993,935 (GRCm39) |
M116K |
probably damaging |
Het |
| Or6c216 |
A |
G |
10: 129,678,776 (GRCm39) |
L45P |
possibly damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,316 (GRCm39) |
|
probably null |
Het |
| Pdcl3 |
A |
G |
1: 39,026,925 (GRCm39) |
M1V |
probably null |
Het |
| Pdzd2 |
T |
A |
15: 12,458,274 (GRCm39) |
E196D |
probably damaging |
Het |
| Pgm1 |
T |
C |
4: 99,827,237 (GRCm39) |
F379S |
possibly damaging |
Het |
| Pgm2 |
G |
A |
5: 64,273,758 (GRCm39) |
C581Y |
probably benign |
Het |
| Plbd1 |
T |
A |
6: 136,590,945 (GRCm39) |
H407L |
probably benign |
Het |
| Prdm12 |
A |
G |
2: 31,544,321 (GRCm39) |
Y308C |
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,600,255 (GRCm39) |
E893G |
probably null |
Het |
| Slc34a1 |
A |
G |
13: 23,999,005 (GRCm39) |
T133A |
probably benign |
Het |
| Slc9a8 |
T |
A |
2: 167,293,140 (GRCm39) |
S163T |
probably damaging |
Het |
| Sult2a3 |
T |
C |
7: 13,845,482 (GRCm39) |
I126V |
probably benign |
Het |
| Tlr1 |
C |
T |
5: 65,084,188 (GRCm39) |
D130N |
probably damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,361,604 (GRCm39) |
K127* |
probably null |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
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 |
|
R2930:Hsd3b5
|
UTSW |
3 |
98,526,528 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
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'- ACCAGTTGTGTATGAGACCTG -3'
(R):5'- AGGAATTCCATGACTCTGTACAC -3'
Sequencing Primer
(F):5'- CCAGTTGTGTATGAGACCTGAATTC -3'
(R):5'- CCATGACTCTGTACACATTGAATC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation