Incidental Mutation 'R2197:Hsd17b4'
ID |
238467 |
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 |
040199-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.580)
|
Stock # |
R2197 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
50261268-50329336 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 50316369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025385
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025385]
[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 |
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam11 |
A |
T |
11: 102,660,750 (GRCm39) |
I94F |
possibly damaging |
Het |
Ankrd50 |
A |
T |
3: 38,509,741 (GRCm39) |
D875E |
probably damaging |
Het |
Arf3 |
T |
C |
15: 98,639,285 (GRCm39) |
N60S |
probably benign |
Het |
Atxn2 |
T |
G |
5: 121,944,280 (GRCm39) |
|
probably null |
Het |
B3gnt8 |
A |
T |
7: 25,328,373 (GRCm39) |
I268F |
probably benign |
Het |
Bmp1 |
T |
A |
14: 70,723,712 (GRCm39) |
D708V |
possibly damaging |
Het |
C1s2 |
A |
G |
6: 124,609,069 (GRCm39) |
S163P |
probably damaging |
Het |
C3 |
A |
G |
17: 57,526,623 (GRCm39) |
I786T |
probably benign |
Het |
Cacna2d2 |
T |
A |
9: 107,404,602 (GRCm39) |
L1138Q |
probably damaging |
Het |
Cage1 |
T |
A |
13: 38,207,029 (GRCm39) |
Y272F |
probably damaging |
Het |
Cd300ld |
A |
T |
11: 114,875,058 (GRCm39) |
M192K |
possibly damaging |
Het |
Cdc5l |
A |
T |
17: 45,718,745 (GRCm39) |
F624I |
probably benign |
Het |
Cdh8 |
T |
A |
8: 99,922,897 (GRCm39) |
Q333L |
probably damaging |
Het |
Ciapin1 |
T |
A |
8: 95,555,787 (GRCm39) |
K128* |
probably null |
Het |
Col6a3 |
T |
A |
1: 90,731,467 (GRCm39) |
E988D |
probably benign |
Het |
Crip3 |
A |
G |
17: 46,740,338 (GRCm39) |
E46G |
probably damaging |
Het |
D5Ertd579e |
A |
G |
5: 36,772,137 (GRCm39) |
S753P |
possibly damaging |
Het |
Dock6 |
T |
A |
9: 21,744,177 (GRCm39) |
D126V |
probably damaging |
Het |
Duxf4 |
T |
A |
10: 58,072,158 (GRCm39) |
I19F |
possibly damaging |
Het |
Dvl3 |
A |
G |
16: 20,342,506 (GRCm39) |
E153G |
probably damaging |
Het |
Epas1 |
A |
T |
17: 87,136,471 (GRCm39) |
M748L |
probably benign |
Het |
Exoc8 |
A |
G |
8: 125,622,477 (GRCm39) |
L630P |
probably damaging |
Het |
Fam227a |
G |
A |
15: 79,507,668 (GRCm39) |
T454M |
probably damaging |
Het |
Flnc |
A |
T |
6: 29,459,134 (GRCm39) |
D2472V |
probably damaging |
Het |
Galnt4 |
G |
A |
10: 98,944,509 (GRCm39) |
G78E |
probably damaging |
Het |
Ghr |
A |
T |
15: 3,362,956 (GRCm39) |
L172* |
probably null |
Het |
Gjb5 |
A |
T |
4: 127,250,063 (GRCm39) |
|
probably null |
Het |
Hdac5 |
T |
C |
11: 102,095,340 (GRCm39) |
D427G |
probably damaging |
Het |
Kcnab1 |
T |
C |
3: 65,017,368 (GRCm39) |
I59T |
probably benign |
Het |
Kcnh7 |
A |
G |
2: 62,607,950 (GRCm39) |
Y544H |
probably damaging |
Het |
Kdm7a |
A |
G |
6: 39,123,870 (GRCm39) |
S765P |
probably damaging |
Het |
Lama1 |
A |
T |
17: 68,059,936 (GRCm39) |
H675L |
probably benign |
Het |
Lemd3 |
CCCTCCTCCTCCTCCTCCTCC |
CCCTCCTCCTCCTCCTCC |
10: 120,814,432 (GRCm39) |
|
probably benign |
Het |
Llgl1 |
T |
C |
11: 60,600,865 (GRCm39) |
S654P |
possibly damaging |
Het |
Lvrn |
G |
T |
18: 47,011,409 (GRCm39) |
M455I |
probably benign |
Het |
Mfsd12 |
T |
A |
10: 81,193,568 (GRCm39) |
L46Q |
probably damaging |
Het |
Mtcl1 |
A |
T |
17: 66,673,427 (GRCm39) |
M783K |
probably benign |
Het |
Mthfd1l |
A |
T |
10: 3,978,399 (GRCm39) |
T420S |
probably damaging |
Het |
Mybphl |
T |
A |
3: 108,284,635 (GRCm39) |
I294N |
probably damaging |
Het |
Or4c52 |
G |
A |
2: 89,845,768 (GRCm39) |
G165S |
probably damaging |
Het |
Or4f14b |
T |
C |
2: 111,775,658 (GRCm39) |
T48A |
possibly damaging |
Het |
Or52ab7 |
T |
A |
7: 102,977,831 (GRCm39) |
L46* |
probably null |
Het |
Oxa1l |
A |
T |
14: 54,598,924 (GRCm39) |
Q70L |
probably benign |
Het |
Pcdhac2 |
A |
T |
18: 37,279,185 (GRCm39) |
I722F |
probably damaging |
Het |
Pde4d |
A |
G |
13: 110,084,924 (GRCm39) |
D460G |
probably damaging |
Het |
Pth1r |
CGGG |
CGGGGGG |
9: 110,556,058 (GRCm39) |
|
probably benign |
Het |
Rab11fip3 |
A |
G |
17: 26,287,152 (GRCm39) |
S334P |
probably benign |
Het |
Ror2 |
C |
T |
13: 53,439,816 (GRCm39) |
|
probably null |
Het |
Scnn1g |
G |
C |
7: 121,366,519 (GRCm39) |
W572S |
probably damaging |
Het |
Skint5 |
G |
A |
4: 113,798,046 (GRCm39) |
S179L |
probably damaging |
Het |
Slc22a2 |
G |
T |
17: 12,817,949 (GRCm39) |
G175V |
probably damaging |
Het |
Spaca6 |
G |
A |
17: 18,056,416 (GRCm39) |
|
probably null |
Het |
Tbc1d30 |
C |
T |
10: 121,140,312 (GRCm39) |
R207H |
probably damaging |
Het |
Tdrd5 |
A |
G |
1: 156,087,435 (GRCm39) |
I829T |
probably benign |
Het |
Tmcc3 |
T |
C |
10: 94,414,780 (GRCm39) |
S161P |
probably damaging |
Het |
Tmem150b |
A |
G |
7: 4,719,353 (GRCm39) |
V189A |
probably benign |
Het |
Tmem248 |
A |
G |
5: 130,260,597 (GRCm39) |
D54G |
probably benign |
Het |
Trmt1 |
T |
A |
8: 85,417,487 (GRCm39) |
S121T |
probably damaging |
Het |
Tyk2 |
C |
T |
9: 21,026,503 (GRCm39) |
V698M |
probably damaging |
Het |
Usp17la |
A |
G |
7: 104,509,919 (GRCm39) |
R175G |
probably damaging |
Het |
Vav1 |
A |
G |
17: 57,610,140 (GRCm39) |
N464S |
probably benign |
Het |
Vmn2r57 |
T |
G |
7: 41,078,249 (GRCm39) |
|
probably null |
Het |
Vmn2r78 |
A |
G |
7: 86,570,535 (GRCm39) |
Y351C |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACTTCTGGGGCATATTTCGC -3'
(R):5'- CGCCAGCACATTACTTACATGG -3'
Sequencing Primer
(F):5'- CTGGGGCATATTTCGCTAATAAG -3'
(R):5'- CATTACTTACATGGAATGTAGGCAGG -3'
|
Posted On |
2014-10-02 |