Incidental Mutation 'R8450:Hsd17b4'
| ID |
654737 |
| 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 |
067830-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.580)
|
| Stock # |
R8450 (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 G
at 50297734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 341
(L341R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025385]
|
| AlphaFold |
P51660 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025385
AA Change: L341R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025385
Gene: ENSMUSG00000024507
AA Change: L341R
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,583,962 (GRCm39) |
|
probably null |
Het |
| Arhgef2 |
G |
A |
3: 88,553,527 (GRCm39) |
R886H |
probably damaging |
Het |
| Armc12 |
T |
A |
17: 28,751,031 (GRCm39) |
D82E |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,296,841 (GRCm39) |
S382P |
probably benign |
Het |
| Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
| Cep170 |
A |
G |
1: 176,564,445 (GRCm39) |
L271S |
|
Het |
| Cers3 |
T |
C |
7: 66,414,090 (GRCm39) |
F92S |
possibly damaging |
Het |
| Chmp4c |
A |
T |
3: 10,450,746 (GRCm39) |
M109L |
possibly damaging |
Het |
| Cnmd |
T |
A |
14: 79,882,821 (GRCm39) |
K202* |
probably null |
Het |
| Cnp |
T |
C |
11: 100,467,267 (GRCm39) |
I70T |
probably damaging |
Het |
| Col27a1 |
C |
A |
4: 63,248,134 (GRCm39) |
T1721K |
unknown |
Het |
| Crtac1 |
G |
A |
19: 42,297,625 (GRCm39) |
R242W |
probably damaging |
Het |
| Cry2 |
T |
C |
2: 92,244,286 (GRCm39) |
R296G |
probably benign |
Het |
| Cyp2t4 |
A |
G |
7: 26,856,806 (GRCm39) |
D282G |
possibly damaging |
Het |
| Dip2a |
G |
T |
10: 76,100,690 (GRCm39) |
T1495N |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,687,147 (GRCm39) |
|
probably null |
Het |
| Dmp1 |
A |
T |
5: 104,360,765 (GRCm39) |
K480N |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,977,873 (GRCm39) |
S1820P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,172,798 (GRCm39) |
V220A |
probably benign |
Het |
| Eif4a3l1 |
C |
T |
6: 136,306,241 (GRCm39) |
T234I |
possibly damaging |
Het |
| Epha3 |
T |
C |
16: 63,472,853 (GRCm39) |
D344G |
possibly damaging |
Het |
| Esyt2 |
C |
A |
12: 116,327,102 (GRCm39) |
Q557K |
probably damaging |
Het |
| Fam72a |
A |
T |
1: 131,461,663 (GRCm39) |
D116V |
probably damaging |
Het |
| Fam81a |
T |
C |
9: 70,032,300 (GRCm39) |
N64S |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,826,435 (GRCm39) |
T358S |
|
Het |
| Frat2 |
A |
T |
19: 41,836,223 (GRCm39) |
I43N |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,226,073 (GRCm39) |
D1863E |
probably benign |
Het |
| Gm29735 |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
7: 141,710,266 (GRCm39) |
|
probably benign |
Het |
| Gm43302 |
A |
T |
5: 105,422,573 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
A |
G |
5: 143,363,273 (GRCm39) |
Y422C |
probably damaging |
Het |
| Hap1 |
T |
G |
11: 100,240,107 (GRCm39) |
D563A |
probably damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,475,951 (GRCm39) |
D122G |
probably benign |
Het |
| Hs3st3b1 |
G |
C |
11: 63,780,390 (GRCm39) |
P246A |
probably benign |
Het |
| Kbtbd11 |
G |
A |
8: 15,078,603 (GRCm39) |
V401M |
probably damaging |
Het |
| Lss |
T |
A |
10: 76,371,429 (GRCm39) |
L120Q |
probably damaging |
Het |
| Mdc1 |
T |
G |
17: 36,159,191 (GRCm39) |
S524A |
probably benign |
Het |
| Myoz3 |
T |
C |
18: 60,712,074 (GRCm39) |
Y168C |
probably damaging |
Het |
| Nceh1 |
C |
A |
3: 27,293,813 (GRCm39) |
D190E |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,096,194 (GRCm39) |
R5039G |
probably benign |
Het |
| Nup50 |
T |
A |
15: 84,819,476 (GRCm39) |
V250E |
probably benign |
Het |
| Pcnx3 |
T |
A |
19: 5,723,254 (GRCm39) |
N1314Y |
probably damaging |
Het |
| Pdzk1 |
A |
G |
3: 96,759,024 (GRCm39) |
N143S |
probably benign |
Het |
| Rnf223 |
T |
G |
4: 156,217,120 (GRCm39) |
L165R |
probably damaging |
Het |
| Sbf1 |
A |
T |
15: 89,183,712 (GRCm39) |
F1267Y |
probably damaging |
Het |
| Scrn3 |
T |
G |
2: 73,160,113 (GRCm39) |
I252R |
possibly damaging |
Het |
| Sdr39u1 |
T |
C |
14: 56,135,363 (GRCm39) |
I193M |
probably damaging |
Het |
| Sh2d7 |
A |
G |
9: 54,448,191 (GRCm39) |
R71G |
probably benign |
Het |
| Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
| Syk |
T |
C |
13: 52,774,935 (GRCm39) |
L225P |
probably damaging |
Het |
| Tbx1 |
A |
T |
16: 18,400,795 (GRCm39) |
V463E |
unknown |
Het |
| Tmem67 |
C |
T |
4: 12,087,891 (GRCm39) |
R19H |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,609,108 (GRCm39) |
I17666F |
possibly damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,794,831 (GRCm39) |
V1180A |
probably benign |
Het |
| Vps13a |
C |
T |
19: 16,631,871 (GRCm39) |
|
probably null |
Het |
| Wdr27 |
T |
C |
17: 15,152,787 (GRCm39) |
T107A |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,366,099 (GRCm39) |
R58G |
|
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 |
|
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 |
|
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'- CCCCTGGTATTTTGTGACCTAG -3'
(R):5'- AGGACCAAACAATGCTCCTGG -3'
Sequencing Primer
(F):5'- ACCTAGGGATCTGTCAATGTCAG -3'
(R):5'- GGCACACCTTTGCAAAGTTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation