Incidental Mutation 'IGL00809:Hsd17b7'
| ID |
11352 |
| 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 # |
IGL00809
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
169777104-169796810 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 169793324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 88
(Y88*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027989]
[ENSMUST00000111353]
|
| AlphaFold |
O88736 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027989
AA Change: Y88*
|
| SMART Domains |
Protein: ENSMUSP00000027989
Gene: ENSMUSG00000026675
AA Change: Y88*
| 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 null
Transcript: ENSMUST00000111353
AA Change: Y88*
|
| SMART Domains |
Protein: ENSMUSP00000106985
Gene: ENSMUSG00000026675
AA Change: Y88*
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193930
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,092,983 (GRCm39) |
T113A |
possibly damaging |
Het |
| Akap10 |
T |
A |
11: 61,805,897 (GRCm39) |
N277I |
possibly damaging |
Het |
| Ankrd24 |
A |
T |
10: 81,478,901 (GRCm39) |
|
probably benign |
Het |
| Bfsp2 |
T |
C |
9: 103,330,297 (GRCm39) |
E180G |
possibly damaging |
Het |
| Cd55 |
A |
T |
1: 130,380,248 (GRCm39) |
Y243* |
probably null |
Het |
| Col17a1 |
G |
T |
19: 47,669,842 (GRCm39) |
H103Q |
probably damaging |
Het |
| Diaph3 |
A |
T |
14: 87,237,463 (GRCm39) |
H311Q |
probably damaging |
Het |
| Dnah1 |
G |
A |
14: 31,022,766 (GRCm39) |
Q1124* |
probably null |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fzr1 |
G |
T |
10: 81,206,359 (GRCm39) |
S137* |
probably null |
Het |
| Gnl3 |
A |
G |
14: 30,736,146 (GRCm39) |
I298T |
possibly damaging |
Het |
| Hnrnpa2b1 |
C |
T |
6: 51,443,993 (GRCm39) |
G65S |
probably damaging |
Het |
| Itga2 |
C |
A |
13: 115,014,161 (GRCm39) |
A256S |
probably damaging |
Het |
| Itga7 |
T |
C |
10: 128,775,038 (GRCm39) |
|
probably null |
Het |
| Ivl |
T |
A |
3: 92,479,819 (GRCm39) |
Q82L |
possibly damaging |
Het |
| Lin28a |
C |
T |
4: 133,735,367 (GRCm39) |
G90S |
probably damaging |
Het |
| Lkaaear1 |
A |
T |
2: 181,339,127 (GRCm39) |
S108T |
probably benign |
Het |
| Mfsd11 |
T |
A |
11: 116,750,177 (GRCm39) |
S105T |
probably damaging |
Het |
| Osbpl9 |
C |
T |
4: 108,990,960 (GRCm39) |
R100H |
probably damaging |
Het |
| Pals2 |
C |
T |
6: 50,173,569 (GRCm39) |
R478C |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,725,811 (GRCm39) |
D1556E |
unknown |
Het |
| Phip |
G |
A |
9: 82,753,356 (GRCm39) |
S1796F |
probably damaging |
Het |
| Phtf1 |
T |
C |
3: 103,895,983 (GRCm39) |
S226P |
probably benign |
Het |
| Rapgef6 |
C |
A |
11: 54,540,126 (GRCm39) |
Q734K |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,279 (GRCm39) |
I1802N |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,684,038 (GRCm39) |
|
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,970,301 (GRCm39) |
I373V |
probably benign |
Het |
| Ttbk2 |
T |
A |
2: 120,590,750 (GRCm39) |
D303V |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,095,968 (GRCm39) |
I1163T |
probably damaging |
Het |
|
| Other mutations in Hsd17b7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03389:Hsd17b7
|
APN |
1 |
169,787,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-12-06 |
Incidental Mutation