Incidental Mutation 'IGL01923:Hsd17b7'
| ID |
180165 |
| 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 # |
IGL01923
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
169777104-169796810 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 169787035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 254
(V254A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027989]
[ENSMUST00000111353]
|
| AlphaFold |
O88736 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027989
AA Change: V254A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027989
Gene: ENSMUSG00000026675
AA Change: V254A
| 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 benign
Transcript: ENSMUST00000111353
AA Change: V254A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106985
Gene: ENSMUSG00000026675
AA Change: V254A
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
T |
A |
5: 129,255,143 (GRCm39) |
S597T |
possibly damaging |
Het |
| Btnl9 |
T |
C |
11: 49,071,409 (GRCm39) |
D138G |
probably benign |
Het |
| Cep135 |
T |
A |
5: 76,788,829 (GRCm39) |
*1141K |
probably null |
Het |
| Ctnnd2 |
A |
T |
15: 30,480,974 (GRCm39) |
Q74L |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,950,294 (GRCm39) |
W236R |
probably benign |
Het |
| Dixdc1 |
A |
T |
9: 50,606,803 (GRCm39) |
I271N |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 118,957,182 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
C |
A |
11: 66,016,061 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,404,920 (GRCm39) |
Y275F |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,187,811 (GRCm39) |
*2105R |
probably null |
Het |
| Eif4a1 |
A |
T |
11: 69,563,129 (GRCm39) |
D25E |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,883,139 (GRCm39) |
I2557N |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm12253 |
G |
T |
11: 58,325,727 (GRCm39) |
|
probably null |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Kif21a |
T |
A |
15: 90,840,633 (GRCm39) |
D143V |
probably damaging |
Het |
| Lrrc9 |
T |
C |
12: 72,557,186 (GRCm39) |
V1417A |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,274,237 (GRCm39) |
A4926T |
possibly damaging |
Het |
| Mef2a |
A |
C |
7: 66,914,620 (GRCm39) |
S91R |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,222,916 (GRCm39) |
|
probably null |
Het |
| Or6c65 |
T |
A |
10: 129,603,973 (GRCm39) |
F203I |
probably benign |
Het |
| Pbx2 |
A |
G |
17: 34,813,024 (GRCm39) |
D160G |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,619,790 (GRCm39) |
F527L |
probably benign |
Het |
| Ppm1b |
T |
C |
17: 85,301,489 (GRCm39) |
L123P |
probably damaging |
Het |
| Ppm1k |
T |
A |
6: 57,499,813 (GRCm39) |
K154N |
probably benign |
Het |
| Ppp2r1a |
T |
G |
17: 21,185,731 (GRCm39) |
*590G |
probably null |
Het |
| Raver1 |
A |
T |
9: 20,990,536 (GRCm39) |
L589Q |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,832,081 (GRCm39) |
S29P |
probably damaging |
Het |
| Senp5 |
A |
G |
16: 31,784,634 (GRCm39) |
Y673H |
probably damaging |
Het |
| Serpina3j |
T |
A |
12: 104,281,473 (GRCm39) |
|
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,817,116 (GRCm39) |
E70G |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,287,492 (GRCm39) |
Q139R |
probably damaging |
Het |
| Sva |
T |
A |
6: 42,019,104 (GRCm39) |
H91Q |
probably benign |
Het |
| Tmem263 |
C |
T |
10: 84,950,295 (GRCm39) |
Q29* |
probably null |
Het |
| Tpp1 |
T |
C |
7: 105,400,857 (GRCm39) |
N57D |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r27 |
T |
A |
6: 124,177,484 (GRCm39) |
I507L |
probably benign |
Het |
| Wdr11 |
A |
T |
7: 129,234,046 (GRCm39) |
|
probably null |
Het |
| Zfp236 |
C |
T |
18: 82,700,344 (GRCm39) |
E42K |
probably damaging |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation