Incidental Mutation 'R6475:Hsd17b4'
| ID |
517830 |
| 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 |
044608-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.580)
|
| Stock # |
R6475 (G1)
|
| Quality Score |
118.094 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
50261268-50329336 bp(+) (GRCm39) |
| Type of Mutation |
splice site (131 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 50305329 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 null
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
96% (54/56) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb5 |
T |
A |
8: 55,003,610 (GRCm39) |
V44E |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,907,503 (GRCm39) |
D865E |
probably damaging |
Het |
| Ccr4 |
A |
G |
9: 114,322,047 (GRCm39) |
V6A |
probably benign |
Het |
| Cd209a |
A |
T |
8: 3,797,031 (GRCm39) |
D102E |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,227,022 (GRCm39) |
D161G |
possibly damaging |
Het |
| Cog4 |
T |
A |
8: 111,607,526 (GRCm39) |
I671N |
possibly damaging |
Het |
| Col14a1 |
T |
G |
15: 55,309,218 (GRCm39) |
|
probably benign |
Het |
| Cpne6 |
A |
G |
14: 55,751,110 (GRCm39) |
D173G |
probably damaging |
Het |
| Daglb |
G |
T |
5: 143,467,406 (GRCm39) |
V275L |
probably benign |
Het |
| Defb43 |
G |
T |
14: 63,249,321 (GRCm39) |
|
probably null |
Het |
| Dhx30 |
A |
G |
9: 109,914,120 (GRCm39) |
V1022A |
possibly damaging |
Het |
| Egfem1 |
A |
T |
3: 29,711,312 (GRCm39) |
K297M |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,841,259 (GRCm39) |
I717V |
probably benign |
Het |
| Eif2ak1 |
T |
G |
5: 143,803,765 (GRCm39) |
|
probably null |
Het |
| Epb42 |
T |
C |
2: 120,857,614 (GRCm39) |
Y307C |
possibly damaging |
Het |
| Erlec1 |
G |
A |
11: 30,898,442 (GRCm39) |
Q10* |
probably null |
Het |
| Fam185a |
A |
G |
5: 21,630,281 (GRCm39) |
D39G |
probably benign |
Het |
| Fbxl4 |
T |
A |
4: 22,433,661 (GRCm39) |
D599E |
probably damaging |
Het |
| Fgfr2 |
T |
A |
7: 129,802,850 (GRCm39) |
T268S |
probably benign |
Het |
| Gabra1 |
A |
T |
11: 42,053,382 (GRCm39) |
M84K |
probably benign |
Het |
| Gba1 |
A |
G |
3: 89,113,235 (GRCm39) |
D222G |
probably benign |
Het |
| Gm3409 |
T |
A |
5: 146,474,596 (GRCm39) |
H37Q |
possibly damaging |
Het |
| Gm4559 |
A |
G |
7: 141,827,887 (GRCm39) |
C72R |
unknown |
Het |
| Grik4 |
T |
C |
9: 42,540,304 (GRCm39) |
N292S |
probably benign |
Het |
| Haao |
A |
G |
17: 84,139,113 (GRCm39) |
S274P |
possibly damaging |
Het |
| Igdcc4 |
A |
T |
9: 65,027,603 (GRCm39) |
S222C |
probably damaging |
Het |
| Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
| Itgb7 |
T |
A |
15: 102,124,701 (GRCm39) |
D772V |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,455,149 (GRCm39) |
L1607P |
probably damaging |
Het |
| Klf5 |
A |
G |
14: 99,538,817 (GRCm39) |
T77A |
probably benign |
Het |
| Klhl29 |
C |
T |
12: 5,141,030 (GRCm39) |
V605I |
probably damaging |
Het |
| Map4k1 |
T |
C |
7: 28,686,447 (GRCm39) |
V105A |
probably damaging |
Het |
| Mctp2 |
A |
T |
7: 71,850,092 (GRCm39) |
|
probably null |
Het |
| Med12l |
A |
G |
3: 59,164,500 (GRCm39) |
E1364G |
probably damaging |
Het |
| Mup9 |
A |
T |
4: 60,375,805 (GRCm39) |
D30E |
possibly damaging |
Het |
| Naip1 |
T |
C |
13: 100,545,596 (GRCm39) |
R1311G |
probably damaging |
Het |
| Or2ag2 |
A |
G |
7: 106,485,604 (GRCm39) |
V140A |
probably benign |
Het |
| Or2v1 |
C |
T |
11: 49,025,760 (GRCm39) |
T247I |
probably benign |
Het |
| Or4f14 |
G |
A |
2: 111,743,204 (GRCm39) |
Q24* |
probably null |
Het |
| Or8g28 |
T |
A |
9: 39,169,378 (GRCm39) |
M197L |
probably benign |
Het |
| Pkd1l3 |
A |
C |
8: 110,349,844 (GRCm39) |
T230P |
unknown |
Het |
| Pthlh |
G |
T |
6: 147,158,688 (GRCm39) |
H91N |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,681,942 (GRCm39) |
V239D |
probably damaging |
Het |
| Rita1 |
G |
A |
5: 120,749,635 (GRCm39) |
T26I |
probably damaging |
Het |
| Robo3 |
T |
C |
9: 37,334,586 (GRCm39) |
T615A |
probably damaging |
Het |
| Rpp38 |
T |
C |
2: 3,330,644 (GRCm39) |
D86G |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,533,129 (GRCm39) |
T539A |
probably damaging |
Het |
| Senp2 |
G |
T |
16: 21,842,550 (GRCm39) |
V205L |
probably damaging |
Het |
| Septin10 |
T |
C |
10: 59,028,133 (GRCm39) |
N63D |
possibly damaging |
Het |
| Sez6 |
A |
G |
11: 77,864,670 (GRCm39) |
|
|
Het |
| Spesp1 |
C |
T |
9: 62,179,715 (GRCm39) |
V398I |
probably benign |
Het |
| Tmbim7 |
G |
A |
5: 3,714,319 (GRCm39) |
G19S |
probably benign |
Het |
| Tnni3k |
A |
T |
3: 154,646,695 (GRCm39) |
L431* |
probably null |
Het |
| Trdn |
T |
A |
10: 33,340,551 (GRCm39) |
|
probably null |
Het |
| Tubb2a |
A |
G |
13: 34,259,442 (GRCm39) |
V116A |
possibly damaging |
Het |
| Ush1c |
T |
C |
7: 45,878,643 (GRCm39) |
D124G |
probably damaging |
Het |
| Zfp768 |
A |
T |
7: 126,943,827 (GRCm39) |
F103L |
probably damaging |
Het |
| Zfp799 |
A |
G |
17: 33,039,820 (GRCm39) |
S149P |
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 |
|
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 |
|
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'- TAGTCTATTCTTATTCTGGGAAGGAAC -3'
(R):5'- GAGTCTGCCGCTTCTGTCTG -3'
Sequencing Primer
(F):5'- ATGCTATAATCAGTTCTCTGTCTTTG -3'
(R):5'- CTGCCTCAGACACCTGC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation