Incidental Mutation 'IGL01986:Hsd17b4'
ID |
181934 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.580)
|
Stock # |
IGL01986
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
50261268-50329336 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 50293193 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025385
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025385]
|
AlphaFold |
P51660 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025385
|
SMART Domains |
Protein: ENSMUSP00000025385 Gene: ENSMUSG00000024507
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
T |
2: 152,282,956 (GRCm39) |
I245F |
possibly damaging |
Het |
Abca3 |
G |
A |
17: 24,627,088 (GRCm39) |
G1263D |
probably damaging |
Het |
Arap2 |
A |
T |
5: 62,779,265 (GRCm39) |
S1442T |
probably damaging |
Het |
Arl15 |
C |
A |
13: 114,058,902 (GRCm39) |
S56R |
possibly damaging |
Het |
Ccdc38 |
A |
T |
10: 93,415,705 (GRCm39) |
N415Y |
probably damaging |
Het |
Ccny |
G |
A |
18: 9,377,817 (GRCm39) |
R81C |
probably damaging |
Het |
Cracd |
T |
A |
5: 77,006,457 (GRCm39) |
S939R |
unknown |
Het |
Csmd3 |
T |
C |
15: 47,522,591 (GRCm39) |
T2693A |
possibly damaging |
Het |
Fancm |
C |
T |
12: 65,173,429 (GRCm39) |
Q1914* |
probably null |
Het |
Fcsk |
T |
C |
8: 111,609,889 (GRCm39) |
T1042A |
probably benign |
Het |
Gm18856 |
G |
A |
13: 14,139,413 (GRCm39) |
|
probably benign |
Het |
Gramd1a |
A |
T |
7: 30,833,434 (GRCm39) |
L610Q |
possibly damaging |
Het |
Hspa12a |
A |
G |
19: 58,787,834 (GRCm39) |
S663P |
probably benign |
Het |
Insr |
C |
T |
8: 3,208,817 (GRCm39) |
V1215I |
probably damaging |
Het |
Kdr |
A |
G |
5: 76,113,519 (GRCm39) |
V783A |
probably benign |
Het |
Klhl9 |
T |
C |
4: 88,640,016 (GRCm39) |
D75G |
probably damaging |
Het |
Lmntd1 |
A |
G |
6: 145,365,533 (GRCm39) |
S53P |
probably damaging |
Het |
Lrrc41 |
T |
A |
4: 115,946,519 (GRCm39) |
F411L |
probably benign |
Het |
Lyst |
G |
A |
13: 13,950,212 (GRCm39) |
|
probably null |
Het |
Mmp17 |
A |
G |
5: 129,673,692 (GRCm39) |
H257R |
probably damaging |
Het |
Nkiras1 |
G |
A |
14: 18,280,071 (GRCm38) |
R154Q |
probably damaging |
Het |
Or10ag2 |
A |
G |
2: 87,248,880 (GRCm39) |
I163V |
probably benign |
Het |
Or2b4 |
A |
G |
17: 38,116,957 (GRCm39) |
K307R |
probably damaging |
Het |
Or4p21 |
C |
T |
2: 88,276,839 (GRCm39) |
V148I |
probably benign |
Het |
Or8s16 |
T |
C |
15: 98,210,660 (GRCm39) |
Y257C |
probably damaging |
Het |
Pcsk6 |
G |
A |
7: 65,577,625 (GRCm39) |
R60H |
probably damaging |
Het |
Polk |
T |
C |
13: 96,620,331 (GRCm39) |
D623G |
probably benign |
Het |
Rlf |
A |
T |
4: 121,005,303 (GRCm39) |
C1226S |
probably damaging |
Het |
Rpa2 |
C |
T |
4: 132,499,191 (GRCm39) |
P87S |
probably benign |
Het |
Rpa2 |
C |
T |
4: 132,499,192 (GRCm39) |
P87L |
probably benign |
Het |
Sema5a |
T |
C |
15: 32,682,506 (GRCm39) |
|
probably benign |
Het |
Sis |
A |
T |
3: 72,852,545 (GRCm39) |
M529K |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,460,237 (GRCm39) |
M3375T |
probably benign |
Het |
Syne3 |
A |
T |
12: 104,934,259 (GRCm39) |
L83Q |
probably damaging |
Het |
Tec |
A |
T |
5: 72,939,348 (GRCm39) |
Y222* |
probably null |
Het |
Tfap2d |
C |
T |
1: 19,189,383 (GRCm39) |
|
probably benign |
Het |
Trak1 |
G |
A |
9: 121,302,033 (GRCm39) |
A930T |
probably benign |
Het |
Ugt2b34 |
G |
T |
5: 87,049,111 (GRCm39) |
H305N |
probably benign |
Het |
Vmn2r95 |
A |
G |
17: 18,660,473 (GRCm39) |
N295S |
probably benign |
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 |
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 |
R0967:Hsd17b4
|
UTSW |
18 |
50,316,328 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Posted On |
2014-05-07 |