Incidental Mutation 'R5788:Hsd17b4'
ID |
448183 |
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 |
043382-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.580)
|
Stock # |
R5788 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
50261268-50329336 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 50306776 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 494
(D494N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025385
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025385]
|
AlphaFold |
P51660 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025385
AA Change: D494N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000025385 Gene: ENSMUSG00000024507 AA Change: D494N
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 |
0.2929 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
Validation Efficiency |
98% (62/63) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
A |
G |
7: 131,045,328 (GRCm39) |
Y420C |
probably benign |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Amfr |
T |
A |
8: 94,726,942 (GRCm39) |
R90S |
probably damaging |
Het |
Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
Ano5 |
G |
A |
7: 51,216,066 (GRCm39) |
D348N |
possibly damaging |
Het |
Atp8a2 |
T |
A |
14: 60,258,242 (GRCm39) |
D440V |
probably damaging |
Het |
Bahcc1 |
A |
G |
11: 120,177,178 (GRCm39) |
D2022G |
probably damaging |
Het |
Bicd1 |
T |
C |
6: 149,385,498 (GRCm39) |
F77S |
probably benign |
Het |
Ccdc66 |
C |
T |
14: 27,220,448 (GRCm39) |
R255H |
probably benign |
Het |
Ckm |
A |
G |
7: 19,153,372 (GRCm39) |
D152G |
probably benign |
Het |
Cpsf7 |
T |
G |
19: 10,518,082 (GRCm39) |
S431A |
possibly damaging |
Het |
Csmd1 |
T |
C |
8: 16,251,980 (GRCm39) |
T959A |
probably damaging |
Het |
Dkk4 |
T |
C |
8: 23,115,347 (GRCm39) |
C66R |
probably damaging |
Het |
Espl1 |
T |
A |
15: 102,232,465 (GRCm39) |
W2058R |
probably damaging |
Het |
Evi5l |
A |
T |
8: 4,256,800 (GRCm39) |
|
probably benign |
Het |
Fancg |
A |
T |
4: 43,007,130 (GRCm39) |
|
probably benign |
Het |
Flg2 |
A |
T |
3: 93,108,296 (GRCm39) |
H108L |
probably benign |
Het |
Fzd2 |
A |
T |
11: 102,496,293 (GRCm39) |
T246S |
probably benign |
Het |
Gm10428 |
T |
G |
11: 62,644,107 (GRCm39) |
|
probably benign |
Het |
Gm1988 |
T |
A |
7: 38,821,627 (GRCm39) |
|
noncoding transcript |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gm7133 |
A |
T |
1: 97,171,201 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
T |
C |
6: 135,717,962 (GRCm39) |
N710S |
probably benign |
Het |
Hcn2 |
T |
C |
10: 79,552,945 (GRCm39) |
V148A |
possibly damaging |
Het |
Hephl1 |
A |
G |
9: 14,995,579 (GRCm39) |
L483S |
possibly damaging |
Het |
Hinfp |
C |
T |
9: 44,209,105 (GRCm39) |
E338K |
possibly damaging |
Het |
Ipo4 |
C |
T |
14: 55,866,277 (GRCm39) |
V801M |
probably benign |
Het |
Kcns2 |
A |
C |
15: 34,839,000 (GRCm39) |
Y121S |
probably benign |
Het |
Kif1c |
T |
A |
11: 70,599,654 (GRCm39) |
L462H |
probably damaging |
Het |
Lrrk2 |
T |
G |
15: 91,648,851 (GRCm39) |
V1615G |
possibly damaging |
Het |
Naca |
G |
A |
10: 127,876,011 (GRCm39) |
|
probably benign |
Het |
Naip6 |
G |
T |
13: 100,436,724 (GRCm39) |
Q600K |
probably benign |
Het |
Ndufs2 |
A |
G |
1: 171,066,954 (GRCm39) |
Y135H |
probably damaging |
Het |
Nwd2 |
T |
C |
5: 63,965,114 (GRCm39) |
V1566A |
probably benign |
Het |
Or52d13 |
C |
T |
7: 103,110,086 (GRCm39) |
V110I |
possibly damaging |
Het |
Or52n4b |
T |
C |
7: 108,144,551 (GRCm39) |
I271T |
probably damaging |
Het |
Or5t17 |
A |
G |
2: 86,832,645 (GRCm39) |
T111A |
probably benign |
Het |
Or6c75 |
A |
G |
10: 129,336,779 (GRCm39) |
M1V |
probably null |
Het |
Or6c75 |
A |
T |
10: 129,336,763 (GRCm39) |
L3F |
probably benign |
Het |
Pcid2 |
C |
T |
8: 13,150,320 (GRCm39) |
|
probably null |
Het |
Pld4 |
A |
C |
12: 112,730,551 (GRCm39) |
I145L |
probably benign |
Het |
Pogk |
A |
T |
1: 166,236,580 (GRCm39) |
|
probably benign |
Het |
Rhbg |
C |
T |
3: 88,152,874 (GRCm39) |
V280I |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rxfp3 |
A |
G |
15: 11,036,250 (GRCm39) |
F374S |
possibly damaging |
Het |
Son |
A |
G |
16: 91,456,940 (GRCm39) |
|
probably benign |
Het |
Specc1l |
G |
T |
10: 75,112,755 (GRCm39) |
R994L |
probably damaging |
Het |
Tas2r135 |
T |
A |
6: 42,382,531 (GRCm39) |
D23E |
probably damaging |
Het |
Teddm2 |
A |
T |
1: 153,726,810 (GRCm39) |
H21Q |
probably benign |
Het |
Tet1 |
T |
C |
10: 62,675,737 (GRCm39) |
T780A |
possibly damaging |
Het |
Thbs1 |
T |
A |
2: 117,952,989 (GRCm39) |
D866E |
probably damaging |
Het |
Tmed4 |
A |
G |
11: 6,221,743 (GRCm39) |
W198R |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,749,575 (GRCm39) |
C3825S |
probably benign |
Het |
Uchl1 |
T |
A |
5: 66,833,754 (GRCm39) |
|
probably benign |
Het |
Wsb2 |
A |
G |
5: 117,515,483 (GRCm39) |
T363A |
possibly damaging |
Het |
Zfp266 |
A |
G |
9: 20,417,332 (GRCm39) |
Y19H |
probably damaging |
Het |
Zkscan17 |
A |
G |
11: 59,378,086 (GRCm39) |
C366R |
probably 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 |
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 |
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'- CTCTGTGACCTGAGAATGGTTC -3'
(R):5'- TGACCCTCCTCCGAGAACTTAC -3'
Sequencing Primer
(F):5'- GACCTGAGAATGGTTCTGATAATG -3'
(R):5'- CTTACTCTACAAATCAAAGCCTGGTG -3'
|
Posted On |
2016-12-15 |