Incidental Mutation 'IGL03389:Hsd17b7'
ID |
420982 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hsd17b7
|
Ensembl Gene |
ENSMUSG00000026675 |
Gene Name |
hydroxysteroid (17-beta) dehydrogenase 7 |
Synonyms |
ERG27 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03389
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
169777104-169796810 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 169787320 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 228
(T228I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106985
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027989]
[ENSMUST00000111353]
|
AlphaFold |
O88736 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027989
AA Change: T228I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027989 Gene: ENSMUSG00000026675 AA Change: T228I
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
3 |
104 |
2.2e-16 |
PFAM |
Pfam:KR
|
4 |
102 |
2.2e-8 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111353
AA Change: T228I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106985 Gene: ENSMUSG00000026675 AA Change: T228I
Domain | Start | End | E-Value | Type |
Pfam:KR
|
3 |
103 |
2.3e-8 |
PFAM |
Pfam:adh_short
|
3 |
236 |
5.2e-28 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123230
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133563
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010] PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality, abnormal brain development, abnormal branchial arches, pericardial effusion, and abnormal cardiovascular development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff3 |
A |
T |
1: 38,249,430 (GRCm39) |
V559E |
possibly damaging |
Het |
Alpk2 |
G |
T |
18: 65,437,937 (GRCm39) |
P1619Q |
possibly damaging |
Het |
Amz1 |
C |
A |
5: 140,737,782 (GRCm39) |
F347L |
probably benign |
Het |
Ank1 |
T |
C |
8: 23,578,076 (GRCm39) |
|
probably null |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Cdc16 |
A |
G |
8: 13,809,179 (GRCm39) |
Y48C |
probably damaging |
Het |
Cfap91 |
C |
T |
16: 38,144,498 (GRCm39) |
|
probably null |
Het |
Cul2 |
A |
G |
18: 3,431,029 (GRCm39) |
D538G |
probably benign |
Het |
Cyp2j13 |
T |
A |
4: 95,956,558 (GRCm39) |
I184F |
probably damaging |
Het |
Cyp4a12b |
A |
T |
4: 115,291,005 (GRCm39) |
R344S |
possibly damaging |
Het |
Dis3 |
A |
G |
14: 99,332,783 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,985,805 (GRCm39) |
H1424R |
probably damaging |
Het |
Eef2 |
A |
G |
10: 81,015,540 (GRCm39) |
I354V |
probably benign |
Het |
Elmo1 |
A |
G |
13: 20,526,596 (GRCm39) |
D382G |
probably damaging |
Het |
Epas1 |
T |
A |
17: 87,131,131 (GRCm39) |
S304T |
probably benign |
Het |
Fry |
A |
T |
5: 150,317,696 (GRCm39) |
D892V |
probably damaging |
Het |
Gprc5a |
G |
T |
6: 135,060,823 (GRCm39) |
D355Y |
possibly damaging |
Het |
Ift74 |
T |
C |
4: 94,510,149 (GRCm39) |
V60A |
possibly damaging |
Het |
Insrr |
A |
T |
3: 87,716,038 (GRCm39) |
I578F |
probably damaging |
Het |
Izumo1 |
T |
C |
7: 45,273,613 (GRCm39) |
F122S |
probably damaging |
Het |
Lss |
G |
A |
10: 76,372,173 (GRCm39) |
R176H |
probably damaging |
Het |
Ltb |
T |
C |
17: 35,414,044 (GRCm39) |
S61P |
probably benign |
Het |
Mybphl |
T |
C |
3: 108,283,034 (GRCm39) |
V274A |
probably benign |
Het |
Myo9a |
T |
G |
9: 59,776,890 (GRCm39) |
L1096W |
probably damaging |
Het |
Nlrc5 |
T |
A |
8: 95,248,102 (GRCm39) |
L1690H |
probably damaging |
Het |
Nrap |
A |
T |
19: 56,340,148 (GRCm39) |
S790T |
probably benign |
Het |
Nrcam |
A |
G |
12: 44,596,689 (GRCm39) |
D308G |
probably benign |
Het |
Or10a3 |
G |
A |
7: 108,479,982 (GRCm39) |
T277M |
probably damaging |
Het |
Or1j17 |
A |
G |
2: 36,578,274 (GRCm39) |
T87A |
probably benign |
Het |
Pias2 |
A |
G |
18: 77,185,354 (GRCm39) |
D138G |
probably damaging |
Het |
Prpf4b |
T |
C |
13: 35,084,439 (GRCm39) |
|
probably benign |
Het |
Rapgef3 |
A |
G |
15: 97,647,397 (GRCm39) |
S788P |
probably damaging |
Het |
Slc5a6 |
T |
C |
5: 31,194,821 (GRCm39) |
Y525C |
probably damaging |
Het |
Snx32 |
T |
C |
19: 5,546,082 (GRCm39) |
|
probably benign |
Het |
Tnfaip3 |
T |
C |
10: 18,880,735 (GRCm39) |
E444G |
probably benign |
Het |
Ttc27 |
T |
C |
17: 75,165,028 (GRCm39) |
Y745H |
probably benign |
Het |
|
Other mutations in Hsd17b7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00809:Hsd17b7
|
APN |
1 |
169,793,324 (GRCm39) |
nonsense |
probably null |
|
IGL01923:Hsd17b7
|
APN |
1 |
169,787,035 (GRCm39) |
missense |
probably benign |
|
IGL02628:Hsd17b7
|
APN |
1 |
169,792,058 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02830:Hsd17b7
|
APN |
1 |
169,780,649 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02886:Hsd17b7
|
APN |
1 |
169,780,649 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03064:Hsd17b7
|
APN |
1 |
169,787,287 (GRCm39) |
missense |
probably benign |
0.35 |
IGL03123:Hsd17b7
|
APN |
1 |
169,780,649 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03139:Hsd17b7
|
APN |
1 |
169,780,649 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03165:Hsd17b7
|
APN |
1 |
169,780,649 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03270:Hsd17b7
|
APN |
1 |
169,780,649 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03098:Hsd17b7
|
UTSW |
1 |
169,780,649 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03138:Hsd17b7
|
UTSW |
1 |
169,780,649 (GRCm39) |
missense |
probably damaging |
0.98 |
R0299:Hsd17b7
|
UTSW |
1 |
169,787,363 (GRCm39) |
splice site |
probably benign |
|
R0723:Hsd17b7
|
UTSW |
1 |
169,783,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R1301:Hsd17b7
|
UTSW |
1 |
169,788,774 (GRCm39) |
splice site |
probably benign |
|
R1449:Hsd17b7
|
UTSW |
1 |
169,787,251 (GRCm39) |
splice site |
probably null |
|
R1806:Hsd17b7
|
UTSW |
1 |
169,788,698 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1874:Hsd17b7
|
UTSW |
1 |
169,783,562 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2365:Hsd17b7
|
UTSW |
1 |
169,792,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R4824:Hsd17b7
|
UTSW |
1 |
169,788,764 (GRCm39) |
missense |
probably benign |
0.10 |
R4859:Hsd17b7
|
UTSW |
1 |
169,794,826 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5644:Hsd17b7
|
UTSW |
1 |
169,783,517 (GRCm39) |
missense |
probably damaging |
0.99 |
R5889:Hsd17b7
|
UTSW |
1 |
169,783,487 (GRCm39) |
missense |
probably benign |
0.00 |
R8967:Hsd17b7
|
UTSW |
1 |
169,796,685 (GRCm39) |
nonsense |
probably null |
|
R9263:Hsd17b7
|
UTSW |
1 |
169,794,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R9329:Hsd17b7
|
UTSW |
1 |
169,794,875 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2016-08-02 |