Incidental Mutation 'R4513:Hsd17b14'
| ID |
377830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsd17b14
|
| Ensembl Gene |
ENSMUSG00000030825 |
| Gene Name |
hydroxysteroid (17-beta) dehydrogenase 14 |
| Synonyms |
0610039E24Rik, retSDR3, Dhrs10 |
| MMRRC Submission |
041759-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R4513 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45204345-45216745 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45212339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 124
(L124F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107752]
[ENSMUST00000210300]
|
| AlphaFold |
E9Q3D4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107752
AA Change: L124F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103381
Gene: ENSMUSG00000030825
AA Change: L124F
| 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 |
noncoding transcript
Transcript: ENSMUST00000115479
AA Change: L90F
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133242
AA Change: L124F
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121017
Gene: ENSMUSG00000030825
AA Change: L124F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
10 |
163 |
9.9e-29 |
PFAM |
|
Pfam:KR
|
10 |
177 |
2e-13 |
PFAM |
|
Pfam:Epimerase
|
12 |
161 |
2.3e-8 |
PFAM |
|
Pfam:3Beta_HSD
|
13 |
152 |
5.1e-7 |
PFAM |
|
Pfam:adh_short_C2
|
16 |
159 |
4.4e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141247
AA Change: A125V
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147958
AA Change: L34F
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209551
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209566
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210300
AA Change: L124F
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210383
|
| Meta Mutation Damage Score |
0.1310 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
100% (56/56) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
A |
G |
17: 57,717,947 (GRCm39) |
I320V |
probably benign |
Het |
| Akap6 |
T |
C |
12: 52,842,787 (GRCm39) |
V45A |
probably benign |
Het |
| Ankrd28 |
A |
T |
14: 31,465,242 (GRCm39) |
S312T |
probably damaging |
Het |
| Cenpn |
A |
G |
8: 117,660,135 (GRCm39) |
Y68C |
probably damaging |
Het |
| Cfap96 |
G |
T |
8: 46,421,175 (GRCm39) |
T116K |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,145,943 (GRCm39) |
I966N |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,046,722 (GRCm39) |
T752A |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,327,168 (GRCm39) |
S952R |
probably null |
Het |
| Dop1a |
G |
A |
9: 86,402,612 (GRCm39) |
E1271K |
probably benign |
Het |
| Fgfr3 |
A |
G |
5: 33,880,460 (GRCm39) |
|
probably benign |
Het |
| Gm10110 |
A |
G |
14: 90,135,151 (GRCm39) |
|
noncoding transcript |
Het |
| Got1l1 |
C |
T |
8: 27,688,513 (GRCm39) |
M279I |
probably benign |
Het |
| Guf1 |
T |
C |
5: 69,719,005 (GRCm39) |
V230A |
probably benign |
Het |
| Id3 |
G |
T |
4: 135,871,669 (GRCm39) |
|
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,187,547 (GRCm39) |
S711G |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,361 (GRCm39) |
M782T |
possibly damaging |
Het |
| Lsm12 |
T |
C |
11: 102,057,909 (GRCm39) |
|
probably null |
Het |
| Map1b |
T |
A |
13: 99,580,741 (GRCm39) |
D117V |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,752,238 (GRCm39) |
T807A |
probably damaging |
Het |
| Mapk14 |
T |
C |
17: 28,943,798 (GRCm39) |
F129S |
probably damaging |
Het |
| Mapkbp1 |
T |
A |
2: 119,854,174 (GRCm39) |
I1257N |
possibly damaging |
Het |
| Mcm3 |
A |
G |
1: 20,880,456 (GRCm39) |
Y459H |
probably damaging |
Het |
| Mkln1 |
T |
C |
6: 31,410,093 (GRCm39) |
|
probably benign |
Het |
| Msh5 |
A |
T |
17: 35,249,664 (GRCm39) |
I627N |
possibly damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,637,204 (GRCm39) |
H488R |
probably benign |
Het |
| Nrg1 |
G |
T |
8: 32,967,105 (GRCm39) |
|
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,676,782 (GRCm39) |
M82V |
probably benign |
Het |
| Or51q1 |
T |
C |
7: 103,628,648 (GRCm39) |
V89A |
probably benign |
Het |
| Or51t4 |
T |
C |
7: 102,597,945 (GRCm39) |
L81P |
probably damaging |
Het |
| Or5b120 |
A |
T |
19: 13,479,986 (GRCm39) |
Y93F |
probably benign |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,107,034 (GRCm39) |
C910S |
probably damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,179,196 (GRCm39) |
E357G |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,424,718 (GRCm39) |
M242V |
probably benign |
Het |
| Rbm11 |
T |
C |
16: 75,393,475 (GRCm39) |
F57S |
probably damaging |
Het |
| Sbp |
G |
A |
17: 24,164,286 (GRCm39) |
G183D |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,599,382 (GRCm39) |
V719A |
unknown |
Het |
| Slc16a7 |
T |
G |
10: 125,069,308 (GRCm39) |
|
probably null |
Het |
| Slc29a1 |
A |
C |
17: 45,899,992 (GRCm39) |
Y232* |
probably null |
Het |
| Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
| Spanxn4 |
A |
T |
12: 62,734,886 (GRCm39) |
|
noncoding transcript |
Het |
| Spata31d1d |
T |
C |
13: 59,876,368 (GRCm39) |
Q389R |
probably benign |
Het |
| Srgap1 |
A |
G |
10: 121,706,231 (GRCm39) |
|
probably null |
Het |
| St6gal2 |
A |
T |
17: 55,790,018 (GRCm39) |
N351Y |
probably benign |
Het |
| Tle2 |
A |
G |
10: 81,423,394 (GRCm39) |
D491G |
probably damaging |
Het |
| Tmem33 |
T |
C |
5: 67,443,468 (GRCm39) |
V215A |
probably benign |
Het |
| Trav6-3 |
A |
G |
14: 53,667,548 (GRCm39) |
T7A |
probably benign |
Het |
| Ube2q2 |
C |
A |
9: 55,057,084 (GRCm39) |
P56T |
probably benign |
Het |
| Unc79 |
T |
C |
12: 102,988,019 (GRCm39) |
V208A |
probably damaging |
Het |
| Xkr7 |
T |
C |
2: 152,896,553 (GRCm39) |
I469T |
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 |
|
IGL03493:Hsd17b14
|
APN |
7 |
45,205,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTAGCTTGATGAGGACTGGAG -3'
(R):5'- ACATCAACTGCAGGGTTACC -3'
Sequencing Primer
(F):5'- CTTGATGAGGACTGGAGATGGAATAG -3'
(R):5'- GGGTTACCTTTCCCCTCAGAG -3'
|
| Posted On |
2016-04-11 |
Incidental Mutation