Incidental Mutation 'R7367:Hsd17b4'
| ID |
571905 |
| 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 |
045451-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.580)
|
| Stock # |
R7367 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
50261268-50329336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 50288252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 227
(H227Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025385]
|
| AlphaFold |
P51660 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025385
AA Change: H227Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025385
Gene: ENSMUSG00000024507
AA Change: H227Q
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
A |
G |
3: 137,996,312 (GRCm39) |
T374A |
probably benign |
Het |
| Agps |
T |
A |
2: 75,698,657 (GRCm39) |
H348Q |
possibly damaging |
Het |
| Ankrd34b |
C |
A |
13: 92,574,795 (GRCm39) |
T9K |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,138,328 (GRCm39) |
Q1203R |
probably damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,644,388 (GRCm39) |
N123D |
probably damaging |
Het |
| Ccn6 |
A |
G |
10: 39,034,261 (GRCm39) |
C114R |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,811,227 (GRCm39) |
T358A |
probably benign |
Het |
| Cfh |
A |
T |
1: 140,014,259 (GRCm39) |
H1188Q |
probably damaging |
Het |
| Cisd1 |
A |
G |
10: 71,172,190 (GRCm39) |
Y31H |
probably damaging |
Het |
| Cnga1 |
G |
A |
5: 72,762,701 (GRCm39) |
S271F |
possibly damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,370,025 (GRCm39) |
T881A |
probably benign |
Het |
| Cracd |
T |
A |
5: 77,004,449 (GRCm39) |
L270Q |
unknown |
Het |
| Cyp2s1 |
A |
T |
7: 25,505,398 (GRCm39) |
D355E |
possibly damaging |
Het |
| Dnaaf10 |
A |
G |
11: 17,182,712 (GRCm39) |
Y291C |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,951,177 (GRCm39) |
R3044W |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 118,006,022 (GRCm39) |
D730G |
probably benign |
Het |
| Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Flacc1 |
A |
T |
1: 58,706,023 (GRCm39) |
I282N |
probably benign |
Het |
| Fsd2 |
A |
G |
7: 81,184,928 (GRCm39) |
I656T |
probably damaging |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gm45871 |
A |
T |
18: 90,609,224 (GRCm39) |
H154L |
probably benign |
Het |
| Golgb1 |
T |
A |
16: 36,718,908 (GRCm39) |
N312K |
probably benign |
Het |
| H2ac4 |
A |
G |
13: 23,935,333 (GRCm39) |
D73G |
possibly damaging |
Het |
| Hsd17b6 |
A |
T |
10: 127,829,492 (GRCm39) |
S237T |
probably benign |
Het |
| Htra4 |
A |
T |
8: 25,523,713 (GRCm39) |
V284E |
probably damaging |
Het |
| Kcnv1 |
C |
T |
15: 44,972,638 (GRCm39) |
C415Y |
probably damaging |
Het |
| Kif11 |
T |
A |
19: 37,408,789 (GRCm39) |
L1037H |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,834,751 (GRCm39) |
T1347A |
probably benign |
Het |
| Lrrc32 |
G |
T |
7: 98,148,086 (GRCm39) |
E289* |
probably null |
Het |
| Lrrc66 |
T |
C |
5: 73,765,724 (GRCm39) |
T440A |
probably benign |
Het |
| Neurl4 |
T |
C |
11: 69,799,408 (GRCm39) |
L928P |
probably damaging |
Het |
| Nos2 |
G |
A |
11: 78,840,916 (GRCm39) |
C788Y |
possibly damaging |
Het |
| Or2c1 |
A |
G |
16: 3,657,166 (GRCm39) |
T110A |
probably damaging |
Het |
| Or4x11 |
A |
G |
2: 89,868,156 (GRCm39) |
S298G |
probably benign |
Het |
| Or5m5 |
T |
C |
2: 85,814,687 (GRCm39) |
W168R |
possibly damaging |
Het |
| Pafah1b3 |
A |
G |
7: 24,995,491 (GRCm39) |
C156R |
probably benign |
Het |
| Pak1ip1 |
T |
G |
13: 41,162,371 (GRCm39) |
N151K |
probably damaging |
Het |
| Pax7 |
G |
A |
4: 139,507,060 (GRCm39) |
P326S |
probably benign |
Het |
| Pex11b |
G |
A |
3: 96,543,994 (GRCm39) |
A21T |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,516,488 (GRCm39) |
V546A |
probably benign |
Het |
| Ppat |
T |
A |
5: 77,067,711 (GRCm39) |
R260* |
probably null |
Het |
| Ppp1r13l |
C |
G |
7: 19,104,081 (GRCm39) |
S187R |
probably benign |
Het |
| Pwp2 |
C |
T |
10: 78,018,314 (GRCm39) |
G126R |
probably damaging |
Het |
| R3hdm1 |
A |
G |
1: 128,081,129 (GRCm39) |
D55G |
possibly damaging |
Het |
| Rev1 |
A |
T |
1: 38,113,488 (GRCm39) |
Y526* |
probably null |
Het |
| Rp1 |
A |
G |
1: 4,418,221 (GRCm39) |
W964R |
probably benign |
Het |
| Sarnp |
A |
G |
10: 128,669,247 (GRCm39) |
I35V |
probably damaging |
Het |
| Sec23a |
T |
C |
12: 59,013,785 (GRCm39) |
N730S |
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,011,535 (GRCm39) |
K374E |
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,122,577 (GRCm39) |
D446G |
probably benign |
Het |
| Sugct |
T |
A |
13: 17,819,399 (GRCm39) |
I149F |
probably damaging |
Het |
| Tle2 |
A |
G |
10: 81,416,152 (GRCm39) |
N142S |
probably damaging |
Het |
| Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,918,549 (GRCm39) |
Y1514N |
probably benign |
Het |
| Ubr4 |
C |
T |
4: 139,180,002 (GRCm39) |
S259L |
unknown |
Het |
| Utp20 |
A |
T |
10: 88,631,305 (GRCm39) |
L892Q |
probably benign |
Het |
| Zfp956 |
C |
T |
6: 47,940,853 (GRCm39) |
T404M |
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 |
|
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 |
|
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'- GTTGGGATGAAAATGTTCTAAAGCC -3'
(R):5'- AGCCAACATTGTACTTAGGGG -3'
Sequencing Primer
(F):5'- TGAAAATGTTCTAAAGCCTTTTAAGC -3'
(R):5'- GCTGGGATAACAGTGTATACCTCC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation