Incidental Mutation 'IGL03493:Hsd17b14'
| ID |
490716 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hsd17b14
|
| Ensembl Gene |
ENSMUSG00000030825 |
| Gene Name |
hydroxysteroid (17-beta) dehydrogenase 14 |
| Synonyms |
0610039E24Rik, retSDR3, Dhrs10 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL03493
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45204345-45216745 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45205515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 42
(D42V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051810]
[ENSMUST00000107752]
[ENSMUST00000209517]
[ENSMUST00000210300]
[ENSMUST00000211155]
[ENSMUST00000211797]
|
| AlphaFold |
E9Q3D4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051810
|
| SMART Domains |
Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
27 |
N/A |
INTRINSIC |
|
PH
|
55 |
155 |
8.18e-19 |
SMART |
|
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
334 |
N/A |
INTRINSIC |
|
coiled coil region
|
376 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
706 |
719 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107752
AA Change: D42V
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103381
Gene: ENSMUSG00000030825
AA Change: D42V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
10 |
187 |
4.3e-12 |
PFAM |
|
Pfam:adh_short
|
10 |
200 |
2.9e-53 |
PFAM |
|
Pfam:Epimerase
|
12 |
184 |
4.2e-7 |
PFAM |
|
Pfam:adh_short_C2
|
16 |
250 |
8.3e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209517
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210300
AA Change: D42V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210460
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210797
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000210997
AA Change: D16V
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211348
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211029
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211155
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211106
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211797
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009]
PHENOTYPE: In a high-throughput phenotyping screen, male null mice exhibit infertility, decreased sperm production, testicular degeneration and an increased anxiety-like response to stress-induced hyperthermia. Homozygous null mice also show an increase in serum IgG2a in response to antigen challenge. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldoart1 |
G |
A |
4: 72,769,884 (GRCm39) |
T253I |
probably damaging |
Het |
| Ampd2 |
T |
C |
3: 107,982,674 (GRCm39) |
E694G |
probably damaging |
Het |
| Atcay |
C |
A |
10: 81,046,407 (GRCm39) |
E306* |
probably null |
Het |
| Atp13a5 |
G |
T |
16: 29,116,342 (GRCm39) |
D546E |
probably benign |
Het |
| C2cd2 |
T |
C |
16: 97,682,861 (GRCm39) |
D125G |
probably damaging |
Het |
| Col23a1 |
T |
C |
11: 51,455,632 (GRCm39) |
|
probably null |
Het |
| Col9a1 |
T |
A |
1: 24,260,651 (GRCm39) |
|
probably benign |
Het |
| Cyp4a31 |
T |
A |
4: 115,427,952 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
G |
A |
12: 117,976,533 (GRCm39) |
R2708C |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,772,059 (GRCm39) |
I537V |
probably benign |
Het |
| Ezh1 |
T |
C |
11: 101,094,617 (GRCm39) |
T392A |
probably benign |
Het |
| Hsf2 |
A |
T |
10: 57,381,462 (GRCm39) |
I294F |
probably damaging |
Het |
| Ibtk |
G |
T |
9: 85,600,972 (GRCm39) |
S797R |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,936,950 (GRCm39) |
C183* |
probably null |
Het |
| Lnpep |
G |
T |
17: 17,799,433 (GRCm39) |
A74E |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,683,576 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
A |
G |
4: 130,677,309 (GRCm39) |
R173G |
probably benign |
Het |
| Nyap1 |
A |
G |
5: 137,733,278 (GRCm39) |
I585T |
probably damaging |
Het |
| Or13a27 |
A |
T |
7: 139,925,066 (GRCm39) |
Y279N |
probably damaging |
Het |
| Or52e7 |
A |
G |
7: 104,685,151 (GRCm39) |
T249A |
probably damaging |
Het |
| Or5d39 |
G |
A |
2: 87,980,280 (GRCm39) |
P28S |
probably benign |
Het |
| Phactr2 |
A |
G |
10: 13,133,413 (GRCm39) |
V190A |
probably benign |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Rad51c |
A |
T |
11: 87,288,579 (GRCm39) |
H201Q |
probably benign |
Het |
| Sec63 |
C |
A |
10: 42,704,937 (GRCm39) |
D730E |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,297,226 (GRCm39) |
I39M |
probably damaging |
Het |
| Trav2 |
A |
G |
14: 52,804,745 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
G |
15: 9,361,569 (GRCm39) |
Y115C |
probably damaging |
Het |
| Zfp955b |
T |
G |
17: 33,521,519 (GRCm39) |
H329Q |
probably benign |
Het |
|
| Other mutations in Hsd17b14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Hsd17b14
|
APN |
7 |
45,216,137 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02504:Hsd17b14
|
APN |
7 |
45,205,799 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03126:Hsd17b14
|
APN |
7 |
45,205,503 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03279:Hsd17b14
|
APN |
7 |
45,215,617 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
BB004:Hsd17b14
|
UTSW |
7 |
45,215,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB014:Hsd17b14
|
UTSW |
7 |
45,215,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0085:Hsd17b14
|
UTSW |
7 |
45,205,834 (GRCm39) |
unclassified |
probably benign |
|
|
R4128:Hsd17b14
|
UTSW |
7 |
45,212,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4513:Hsd17b14
|
UTSW |
7 |
45,212,339 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5903:Hsd17b14
|
UTSW |
7 |
45,215,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6649:Hsd17b14
|
UTSW |
7 |
45,205,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6899:Hsd17b14
|
UTSW |
7 |
45,212,352 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7541:Hsd17b14
|
UTSW |
7 |
45,215,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7829:Hsd17b14
|
UTSW |
7 |
45,216,209 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7927:Hsd17b14
|
UTSW |
7 |
45,215,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2017-10-20 |
Incidental Mutation