Incidental Mutation 'R0967:Hsd17b4'
| ID |
83926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsd17b4
|
| Ensembl Gene |
ENSMUSG00000024507 |
| Gene Name |
hydroxysteroid (17-beta) dehydrogenase 4 |
| Synonyms |
17[b]-HSD, Mfp-2, multifunctional protein 2, D-bifunctional protein, perMFE-2, MFP2, MFE-2 |
| MMRRC Submission |
039096-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.580)
|
| Stock # |
R0967 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
50261268-50329336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 50316328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 652
(H652N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025385]
|
| AlphaFold |
P51660 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025385
AA Change: H652N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025385
Gene: ENSMUSG00000024507
AA Change: H652N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
10 |
186 |
2.1e-17 |
PFAM |
|
Pfam:adh_short
|
10 |
208 |
2.3e-39 |
PFAM |
|
Pfam:MaoC_dehydrat_N
|
346 |
451 |
1.4e-8 |
PFAM |
|
low complexity region
|
458 |
470 |
N/A |
INTRINSIC |
|
Pfam:MaoC_dehydratas
|
479 |
600 |
1.8e-41 |
PFAM |
|
Pfam:SCP2
|
627 |
730 |
8.4e-27 |
PFAM |
|
| Meta Mutation Damage Score |
0.0670 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.1%
- 20x: 90.5%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene have abnormalities in fatty acid metabolism, retarded growth, abnormal bile salt composition, impaired coordination, demyelination and premature death. [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 |
|---|
| Adamts19 |
G |
T |
18: 59,105,812 (GRCm39) |
E736* |
probably null |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Camk1g |
T |
C |
1: 193,032,604 (GRCm39) |
E269G |
probably damaging |
Het |
| Ccrl2 |
G |
A |
9: 110,884,754 (GRCm39) |
T248M |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,716,107 (GRCm39) |
S421P |
probably damaging |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Cplane2 |
T |
C |
4: 140,947,162 (GRCm39) |
M181T |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,721,227 (GRCm39) |
E1468G |
probably null |
Het |
| Cyc1 |
T |
C |
15: 76,229,848 (GRCm39) |
|
probably benign |
Het |
| Fli1 |
T |
A |
9: 32,372,745 (GRCm39) |
T98S |
probably benign |
Het |
| Gk2 |
T |
C |
5: 97,604,155 (GRCm39) |
S228G |
probably benign |
Het |
| Gse1 |
T |
A |
8: 121,297,594 (GRCm39) |
|
probably benign |
Het |
| Hgf |
T |
A |
5: 16,798,839 (GRCm39) |
|
probably benign |
Het |
| Hif1a |
G |
A |
12: 73,984,444 (GRCm39) |
V300I |
possibly damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kif5c |
T |
A |
2: 49,588,128 (GRCm39) |
|
probably benign |
Het |
| Lgr6 |
T |
C |
1: 134,921,750 (GRCm39) |
Y198C |
probably damaging |
Het |
| Lpcat2b |
T |
A |
5: 107,582,084 (GRCm39) |
M471K |
possibly damaging |
Het |
| Med21 |
A |
G |
6: 146,551,697 (GRCm39) |
E116G |
probably benign |
Het |
| Mos |
A |
G |
4: 3,870,932 (GRCm39) |
S295P |
probably benign |
Het |
| Ms4a15 |
A |
T |
19: 10,956,685 (GRCm39) |
V209E |
probably damaging |
Het |
| Mttp |
A |
G |
3: 137,798,484 (GRCm39) |
V804A |
probably benign |
Het |
| Or10ah1-ps1 |
A |
G |
5: 143,123,594 (GRCm39) |
M121T |
probably damaging |
Het |
| Or52n4b |
T |
C |
7: 108,143,996 (GRCm39) |
I86T |
probably damaging |
Het |
| Or5ac23 |
T |
A |
16: 59,149,546 (GRCm39) |
T109S |
possibly damaging |
Het |
| Plagl1 |
T |
C |
10: 13,003,986 (GRCm39) |
|
probably benign |
Het |
| Prpf8 |
T |
A |
11: 75,385,256 (GRCm39) |
V797E |
probably damaging |
Het |
| Rars2 |
A |
G |
4: 34,646,587 (GRCm39) |
D284G |
probably benign |
Het |
| Rassf8 |
T |
C |
6: 145,765,676 (GRCm39) |
|
probably benign |
Het |
| Rfx3 |
A |
G |
19: 27,783,751 (GRCm39) |
|
probably benign |
Het |
| Ripk4 |
A |
T |
16: 97,545,372 (GRCm39) |
M362K |
probably damaging |
Het |
| Rubcn |
C |
A |
16: 32,646,087 (GRCm39) |
E815D |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,933,527 (GRCm39) |
Y1577C |
probably damaging |
Het |
| Sec24b |
C |
T |
3: 129,790,431 (GRCm39) |
R698Q |
probably damaging |
Het |
| Ssc5d |
T |
A |
7: 4,947,342 (GRCm39) |
L1232* |
probably null |
Het |
| Usp7 |
A |
T |
16: 8,514,518 (GRCm39) |
|
probably benign |
Het |
| Vmn2r51 |
T |
G |
7: 9,834,012 (GRCm39) |
H342P |
probably damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,208,827 (GRCm39) |
M550T |
probably damaging |
Het |
| Vmn2r81 |
T |
C |
10: 79,083,857 (GRCm39) |
|
probably benign |
Het |
| Zc3h13 |
T |
C |
14: 75,581,179 (GRCm39) |
I1722T |
possibly damaging |
Het |
|
| Other mutations in Hsd17b4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00646:Hsd17b4
|
APN |
18 |
50,297,912 (GRCm39) |
missense |
probably benign |
|
|
IGL01369:Hsd17b4
|
APN |
18 |
50,305,100 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01411:Hsd17b4
|
APN |
18 |
50,324,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01986:Hsd17b4
|
APN |
18 |
50,293,193 (GRCm39) |
splice site |
probably benign |
|
|
IGL02126:Hsd17b4
|
APN |
18 |
50,315,063 (GRCm39) |
missense |
probably benign |
|
|
IGL02496:Hsd17b4
|
APN |
18 |
50,288,220 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02527:Hsd17b4
|
APN |
18 |
50,293,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02553:Hsd17b4
|
APN |
18 |
50,295,164 (GRCm39) |
splice site |
probably benign |
|
|
IGL02813:Hsd17b4
|
APN |
18 |
50,261,415 (GRCm39) |
utr 5 prime |
probably benign |
|
|
inauspicious
|
UTSW |
18 |
50,279,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I0000:Hsd17b4
|
UTSW |
18 |
50,293,295 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02980:Hsd17b4
|
UTSW |
18 |
50,279,585 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0352:Hsd17b4
|
UTSW |
18 |
50,324,851 (GRCm39) |
missense |
probably benign |
|
|
R0734:Hsd17b4
|
UTSW |
18 |
50,303,844 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1418:Hsd17b4
|
UTSW |
18 |
50,263,254 (GRCm39) |
splice site |
probably benign |
|
|
R1661:Hsd17b4
|
UTSW |
18 |
50,293,282 (GRCm39) |
missense |
probably benign |
|
|
R1665:Hsd17b4
|
UTSW |
18 |
50,293,282 (GRCm39) |
missense |
probably benign |
|
|
R1752:Hsd17b4
|
UTSW |
18 |
50,303,834 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1804:Hsd17b4
|
UTSW |
18 |
50,311,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2197:Hsd17b4
|
UTSW |
18 |
50,316,369 (GRCm39) |
splice site |
probably null |
|
|
R4351:Hsd17b4
|
UTSW |
18 |
50,275,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4405:Hsd17b4
|
UTSW |
18 |
50,261,381 (GRCm39) |
start gained |
probably benign |
|
|
R4976:Hsd17b4
|
UTSW |
18 |
50,293,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5788:Hsd17b4
|
UTSW |
18 |
50,306,776 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5826:Hsd17b4
|
UTSW |
18 |
50,316,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5889:Hsd17b4
|
UTSW |
18 |
50,310,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6475:Hsd17b4
|
UTSW |
18 |
50,305,329 (GRCm39) |
splice site |
probably null |
|
|
R6632:Hsd17b4
|
UTSW |
18 |
50,312,169 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7151:Hsd17b4
|
UTSW |
18 |
50,261,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7367:Hsd17b4
|
UTSW |
18 |
50,288,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7383:Hsd17b4
|
UTSW |
18 |
50,297,917 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7397:Hsd17b4
|
UTSW |
18 |
50,279,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7509:Hsd17b4
|
UTSW |
18 |
50,297,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7697:Hsd17b4
|
UTSW |
18 |
50,263,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7722:Hsd17b4
|
UTSW |
18 |
50,279,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7764:Hsd17b4
|
UTSW |
18 |
50,279,482 (GRCm39) |
nonsense |
probably null |
|
|
R8065:Hsd17b4
|
UTSW |
18 |
50,303,819 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8264:Hsd17b4
|
UTSW |
18 |
50,279,593 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8350:Hsd17b4
|
UTSW |
18 |
50,297,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8450:Hsd17b4
|
UTSW |
18 |
50,297,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9345:Hsd17b4
|
UTSW |
18 |
50,299,981 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9654:Hsd17b4
|
UTSW |
18 |
50,272,533 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9705:Hsd17b4
|
UTSW |
18 |
50,324,791 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9790:Hsd17b4
|
UTSW |
18 |
50,324,907 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9791:Hsd17b4
|
UTSW |
18 |
50,324,907 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Hsd17b4
|
UTSW |
18 |
50,315,047 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGCTCTGGGCAGTATGATACAG -3'
(R):5'- TGCGCCAGCACATTACTTACATGG -3'
Sequencing Primer
(F):5'- CAGGTTAAAAATCACTTCTGGGGC -3'
(R):5'- ATGCTTTTGAATGTCCTGAGACC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation