Incidental Mutation 'IGL02628:Hsd17b7'
ID |
301163 |
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 # |
IGL02628
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
169777104-169796810 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 169792058 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 117
(F117L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027989
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027989]
[ENSMUST00000111353]
|
AlphaFold |
O88736 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027989
AA Change: F117L
PolyPhen 2
Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000027989 Gene: ENSMUSG00000026675 AA Change: F117L
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: F117L
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000106985 Gene: ENSMUSG00000026675 AA Change: F117L
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr10 |
T |
A |
12: 71,001,430 (GRCm39) |
|
probably null |
Het |
Ankhd1 |
T |
C |
18: 36,780,756 (GRCm39) |
V1936A |
probably benign |
Het |
Ap3m1 |
C |
A |
14: 21,095,588 (GRCm39) |
E81* |
probably null |
Het |
Camkk1 |
T |
C |
11: 72,919,995 (GRCm39) |
|
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cmc1 |
A |
G |
9: 117,894,376 (GRCm39) |
Y33H |
probably damaging |
Het |
Cntnap5b |
A |
T |
1: 99,999,794 (GRCm39) |
D184V |
probably damaging |
Het |
F5 |
A |
T |
1: 164,021,644 (GRCm39) |
D1373V |
probably damaging |
Het |
Fam169a |
T |
C |
13: 97,247,796 (GRCm39) |
|
probably benign |
Het |
Fem1c |
G |
A |
18: 46,639,019 (GRCm39) |
R328W |
probably damaging |
Het |
Gba2 |
T |
C |
4: 43,568,919 (GRCm39) |
R579G |
probably benign |
Het |
Gm42641 |
G |
A |
9: 108,887,698 (GRCm39) |
Q98* |
probably null |
Het |
Itsn1 |
A |
G |
16: 91,696,511 (GRCm39) |
D38G |
possibly damaging |
Het |
Map1a |
T |
C |
2: 121,130,585 (GRCm39) |
I467T |
probably damaging |
Het |
Map2k4 |
T |
A |
11: 65,581,567 (GRCm39) |
I382F |
possibly damaging |
Het |
Myh1 |
T |
G |
11: 67,097,088 (GRCm39) |
|
probably benign |
Het |
Nr1h4 |
C |
T |
10: 89,309,701 (GRCm39) |
A339T |
probably damaging |
Het |
Opn4 |
T |
A |
14: 34,315,014 (GRCm39) |
T420S |
probably benign |
Het |
Or5h22 |
A |
C |
16: 58,895,155 (GRCm39) |
M96R |
probably benign |
Het |
Or6n1 |
A |
G |
1: 173,916,756 (GRCm39) |
Y50C |
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Slc17a3 |
T |
A |
13: 24,026,434 (GRCm39) |
M1K |
probably null |
Het |
T |
T |
A |
17: 8,654,190 (GRCm39) |
I125N |
probably damaging |
Het |
Tns2 |
T |
A |
15: 102,020,263 (GRCm39) |
S710T |
probably benign |
Het |
Trav3-1 |
T |
A |
14: 52,818,551 (GRCm39) |
V75E |
probably benign |
Het |
U2surp |
A |
G |
9: 95,354,143 (GRCm39) |
Y832H |
possibly damaging |
Het |
Zng1 |
T |
A |
19: 24,935,269 (GRCm39) |
E78D |
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 |
|
IGL01923:Hsd17b7
|
APN |
1 |
169,787,035 (GRCm39) |
missense |
probably benign |
|
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 |
2015-04-16 |