Incidental Mutation 'IGL03165:Hsd17b7'
ID |
411588 |
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 # |
IGL03165
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
169777104-169796810 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 169780649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 320
(E320K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027989
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027989]
[ENSMUST00000111353]
|
AlphaFold |
O88736 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027989
AA Change: E320K
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000027989 Gene: ENSMUSG00000026675 AA Change: E320K
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
|
SMART Domains |
Protein: ENSMUSP00000106985 Gene: ENSMUSG00000026675
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: ENSMUST00000133563
|
Meta Mutation Damage Score |
0.7956 |
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 |
Adgrb3 |
T |
C |
1: 25,133,475 (GRCm39) |
I334V |
probably benign |
Het |
Axdnd1 |
T |
A |
1: 156,205,959 (GRCm39) |
Y519F |
probably benign |
Het |
C4b |
A |
G |
17: 34,958,929 (GRCm39) |
F500S |
probably benign |
Het |
Cacng2 |
A |
T |
15: 77,879,863 (GRCm39) |
I153N |
possibly damaging |
Het |
Ces1d |
T |
A |
8: 93,916,147 (GRCm39) |
H160L |
probably benign |
Het |
Cnnm3 |
T |
G |
1: 36,564,313 (GRCm39) |
|
probably benign |
Het |
Ctnna3 |
A |
G |
10: 64,781,720 (GRCm39) |
T728A |
probably damaging |
Het |
Cyp2g1 |
G |
A |
7: 26,509,201 (GRCm39) |
V92M |
possibly damaging |
Het |
Dock2 |
C |
A |
11: 34,578,360 (GRCm39) |
V35F |
probably damaging |
Het |
Eif2a |
C |
A |
3: 58,456,049 (GRCm39) |
Y349* |
probably null |
Het |
Erp44 |
C |
T |
4: 48,236,872 (GRCm39) |
|
probably null |
Het |
Flg2 |
C |
T |
3: 93,121,918 (GRCm39) |
H1363Y |
unknown |
Het |
Flnc |
G |
T |
6: 29,449,377 (GRCm39) |
G1425W |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,339,158 (GRCm39) |
N484D |
probably benign |
Het |
Fstl3 |
A |
G |
10: 79,615,799 (GRCm39) |
D95G |
probably benign |
Het |
Gldc |
A |
G |
19: 30,076,393 (GRCm39) |
S1018P |
possibly damaging |
Het |
Gstk1 |
T |
G |
6: 42,226,368 (GRCm39) |
I159S |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,841,660 (GRCm39) |
E3513G |
probably damaging |
Het |
Hpca |
A |
T |
4: 129,012,383 (GRCm39) |
I51N |
probably damaging |
Het |
Igkv4-74 |
T |
C |
6: 69,162,289 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
C |
A |
6: 39,147,848 (GRCm39) |
|
probably benign |
Het |
Or1e23 |
A |
T |
11: 73,407,710 (GRCm39) |
L105* |
probably null |
Het |
Or52z14 |
T |
C |
7: 103,253,218 (GRCm39) |
I119T |
probably damaging |
Het |
Or5al6 |
A |
C |
2: 85,976,412 (GRCm39) |
L222R |
possibly damaging |
Het |
Pa2g4 |
A |
T |
10: 128,394,929 (GRCm39) |
|
probably null |
Het |
Pdlim3 |
T |
A |
8: 46,372,035 (GRCm39) |
L360Q |
possibly damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Polk |
T |
A |
13: 96,653,196 (GRCm39) |
Q68L |
probably benign |
Het |
Ppfia2 |
T |
G |
10: 106,603,348 (GRCm39) |
L195R |
probably damaging |
Het |
Ranbp1 |
A |
T |
16: 18,065,145 (GRCm39) |
|
probably benign |
Het |
Rbm12b1 |
A |
G |
4: 12,145,845 (GRCm39) |
R606G |
possibly damaging |
Het |
Ryr1 |
A |
G |
7: 28,804,465 (GRCm39) |
V488A |
probably benign |
Het |
Sall2 |
A |
T |
14: 52,551,625 (GRCm39) |
D521E |
probably damaging |
Het |
Sntg1 |
A |
T |
1: 8,515,328 (GRCm39) |
C402S |
probably damaging |
Het |
Spg7 |
T |
C |
8: 123,807,551 (GRCm39) |
|
probably null |
Het |
Stk31 |
G |
A |
6: 49,422,198 (GRCm39) |
E750K |
probably damaging |
Het |
Tlr2 |
A |
G |
3: 83,745,255 (GRCm39) |
I276T |
probably benign |
Het |
Trav12-2 |
A |
T |
14: 53,854,206 (GRCm39) |
H60L |
probably benign |
Het |
Urb1 |
A |
G |
16: 90,577,192 (GRCm39) |
L775S |
probably damaging |
Het |
Utp14b |
A |
G |
1: 78,642,237 (GRCm39) |
D45G |
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 |
|
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 |
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 |
2016-08-02 |