Incidental Mutation 'IGL00940:Hsd3b6'
ID |
27111 |
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: 0.089)
|
Stock # |
IGL00940
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
98712820-98721759 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 98713940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 120
(F120I)
|
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: F120I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029463 Gene: ENSMUSG00000027869 AA Change: F120I
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: F120I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129911 Gene: ENSMUSG00000027869 AA Change: F120I
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anks1 |
A |
G |
17: 28,276,328 (GRCm39) |
N1024D |
probably damaging |
Het |
Cts7 |
A |
G |
13: 61,504,723 (GRCm39) |
|
probably null |
Het |
Dock3 |
T |
A |
9: 106,788,576 (GRCm39) |
|
probably benign |
Het |
Fbxo6 |
A |
G |
4: 148,230,567 (GRCm39) |
F232L |
probably benign |
Het |
Il4ra |
G |
A |
7: 125,168,347 (GRCm39) |
|
probably null |
Het |
Irs4 |
A |
T |
X: 140,505,140 (GRCm39) |
F1019I |
unknown |
Het |
Klc1 |
A |
G |
12: 111,753,932 (GRCm39) |
T464A |
probably damaging |
Het |
Mical3 |
T |
C |
6: 120,999,371 (GRCm39) |
T660A |
possibly damaging |
Het |
Ndufs7 |
T |
A |
10: 80,090,955 (GRCm39) |
V158E |
probably damaging |
Het |
Nhs |
T |
A |
X: 160,620,226 (GRCm39) |
N1510I |
probably damaging |
Het |
Or51e2 |
A |
G |
7: 102,391,469 (GRCm39) |
V247A |
probably damaging |
Het |
Or8k38 |
T |
G |
2: 86,488,070 (GRCm39) |
H244P |
probably damaging |
Het |
Pole2 |
G |
A |
12: 69,262,134 (GRCm39) |
T148I |
probably damaging |
Het |
Pramel1 |
T |
A |
4: 143,124,126 (GRCm39) |
L267H |
probably damaging |
Het |
Rag1 |
T |
C |
2: 101,472,733 (GRCm39) |
E803G |
probably damaging |
Het |
Rassf1 |
G |
T |
9: 107,435,510 (GRCm39) |
|
probably benign |
Het |
Rnf220 |
T |
C |
4: 117,164,872 (GRCm39) |
K210R |
probably benign |
Het |
Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
Snd1 |
T |
C |
6: 28,745,174 (GRCm39) |
|
probably benign |
Het |
Spmip9 |
C |
A |
6: 70,890,372 (GRCm39) |
R140L |
probably benign |
Het |
Ssb |
T |
A |
2: 69,701,179 (GRCm39) |
|
probably null |
Het |
Tlr5 |
T |
C |
1: 182,801,761 (GRCm39) |
V355A |
possibly damaging |
Het |
Ush2a |
A |
T |
1: 188,090,158 (GRCm39) |
R414* |
probably null |
Het |
Zfyve26 |
A |
G |
12: 79,327,674 (GRCm39) |
S559P |
probably benign |
Het |
|
Other mutations in Hsd3b6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00693:Hsd3b6
|
APN |
3 |
98,713,594 (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 |
2013-04-17 |