Incidental Mutation 'IGL00693:Hsd3b6'
ID |
11360 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hsd3b6
|
Ensembl Gene |
ENSMUSG00000027869 |
Gene Name |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6 |
Synonyms |
3beta-HSD VI |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
IGL00693
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
98712820-98721759 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 98713594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 235
(L235R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029463]
[ENSMUST00000170847]
|
AlphaFold |
O35469 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029463
AA Change: L235R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000029463 Gene: ENSMUSG00000027869 AA Change: L235R
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 |
probably damaging
Transcript: ENSMUST00000170847
AA Change: L235R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000129911 Gene: ENSMUSG00000027869 AA Change: L235R
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196706
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a7 |
G |
A |
19: 20,677,410 (GRCm39) |
P404S |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,106,696 (GRCm39) |
|
probably benign |
Het |
Ccng1 |
A |
G |
11: 40,644,885 (GRCm39) |
V4A |
probably benign |
Het |
Col4a3 |
T |
C |
1: 82,675,475 (GRCm39) |
Y1176H |
unknown |
Het |
Dyrk3 |
T |
C |
1: 131,064,074 (GRCm39) |
I3V |
possibly damaging |
Het |
Gpsm3 |
A |
G |
17: 34,810,247 (GRCm39) |
E149G |
probably damaging |
Het |
Ipo11 |
A |
T |
13: 107,033,768 (GRCm39) |
F238Y |
probably damaging |
Het |
Kcnh7 |
C |
T |
2: 62,564,598 (GRCm39) |
R887K |
probably benign |
Het |
Lrrc8a |
T |
C |
2: 30,145,327 (GRCm39) |
V47A |
probably benign |
Het |
Lsm14b |
A |
G |
2: 179,674,419 (GRCm39) |
N241D |
probably damaging |
Het |
Mtss1 |
T |
A |
15: 58,815,973 (GRCm39) |
D529V |
probably damaging |
Het |
Nup58 |
A |
T |
14: 60,475,969 (GRCm39) |
S283T |
probably benign |
Het |
Odad2 |
C |
T |
18: 7,211,504 (GRCm39) |
G790D |
probably damaging |
Het |
Pno1 |
A |
G |
11: 17,161,317 (GRCm39) |
L64P |
probably benign |
Het |
Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
Proc |
A |
G |
18: 32,256,566 (GRCm39) |
V367A |
probably benign |
Het |
Sez6l |
A |
T |
5: 112,569,879 (GRCm39) |
I964N |
probably damaging |
Het |
Speer2 |
A |
T |
16: 69,657,406 (GRCm39) |
M79K |
probably benign |
Het |
Tef |
T |
C |
15: 81,699,384 (GRCm39) |
S131P |
probably benign |
Het |
Ubr2 |
T |
C |
17: 47,283,907 (GRCm39) |
T581A |
probably benign |
Het |
Unc13c |
A |
T |
9: 73,665,884 (GRCm39) |
D1045E |
probably benign |
Het |
Vsig8 |
T |
C |
1: 172,389,156 (GRCm39) |
V136A |
probably damaging |
Het |
Wee1 |
A |
T |
7: 109,734,060 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Hsd3b6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R8092:Hsd3b6
|
UTSW |
3 |
98,713,456 (GRCm39) |
missense |
possibly damaging |
0.88 |
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 |
|
Posted On |
2012-12-06 |