Incidental Mutation 'R7764:Hsd17b4'
| ID |
598152 |
| 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 |
045820-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
R7764 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
50261268-50329336 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 50279482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 154
(G154*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025385]
|
| AlphaFold |
P51660 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025385
AA Change: G154*
|
| SMART Domains |
Protein: ENSMUSP00000025385
Gene: ENSMUSG00000024507
AA Change: G154*
| 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: 99.3%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
G |
16: 20,368,040 (GRCm39) |
L93V |
probably benign |
Het |
| Adss2 |
A |
C |
1: 177,591,827 (GRCm39) |
M452R |
probably damaging |
Het |
| Aldh3b1 |
T |
A |
19: 3,971,563 (GRCm39) |
K102* |
probably null |
Het |
| Ccdc162 |
A |
T |
10: 41,566,109 (GRCm39) |
V78D |
possibly damaging |
Het |
| Ccr3 |
T |
C |
9: 123,829,451 (GRCm39) |
V262A |
probably benign |
Het |
| Cdk13 |
A |
T |
13: 17,895,890 (GRCm39) |
|
probably null |
Het |
| Cdyl |
A |
T |
13: 36,000,126 (GRCm39) |
T136S |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,121,567 (GRCm39) |
D1015G |
probably null |
Het |
| Cntn2 |
C |
A |
1: 132,450,101 (GRCm39) |
A598S |
probably benign |
Het |
| Cxxc4 |
G |
T |
3: 133,945,856 (GRCm39) |
G146C |
unknown |
Het |
| Dnah2 |
G |
A |
11: 69,348,984 (GRCm39) |
T2501I |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,074,899 (GRCm39) |
I471N |
probably benign |
Het |
| Eaf2 |
A |
G |
16: 36,645,045 (GRCm39) |
V59A |
probably damaging |
Het |
| Egflam |
T |
A |
15: 7,347,736 (GRCm39) |
I65F |
probably damaging |
Het |
| Exoc3l |
A |
G |
8: 106,017,333 (GRCm39) |
V577A |
possibly damaging |
Het |
| Folh1 |
A |
T |
7: 86,412,126 (GRCm39) |
M215K |
probably benign |
Het |
| Fosb |
T |
C |
7: 19,038,971 (GRCm39) |
D271G |
possibly damaging |
Het |
| Frmd4b |
A |
G |
6: 97,272,891 (GRCm39) |
Y834H |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,811,252 (GRCm39) |
S2524P |
possibly damaging |
Het |
| Gbp3 |
A |
G |
3: 142,271,024 (GRCm39) |
T143A |
probably benign |
Het |
| Grk2 |
A |
T |
19: 4,337,391 (GRCm39) |
L632Q |
probably damaging |
Het |
| Hars1 |
A |
T |
18: 36,903,237 (GRCm39) |
D364E |
probably damaging |
Het |
| Kif5c |
T |
C |
2: 49,617,973 (GRCm39) |
|
probably null |
Het |
| Kif5c |
T |
C |
2: 49,639,339 (GRCm39) |
L800P |
probably damaging |
Het |
| Krt19 |
T |
C |
11: 100,032,218 (GRCm39) |
N282S |
probably benign |
Het |
| Med23 |
T |
G |
10: 24,785,818 (GRCm39) |
|
probably null |
Het |
| Meltf |
A |
G |
16: 31,699,085 (GRCm39) |
Q65R |
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,598,842 (GRCm39) |
S1106P |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,655,242 (GRCm39) |
T733A |
probably damaging |
Het |
| Mul1 |
G |
A |
4: 138,162,080 (GRCm39) |
G4S |
possibly damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Mylk |
G |
T |
16: 34,742,553 (GRCm39) |
V1022L |
probably benign |
Het |
| Ncald |
G |
T |
15: 37,397,454 (GRCm39) |
N75K |
probably damaging |
Het |
| Nfib |
A |
G |
4: 82,238,731 (GRCm39) |
S492P |
possibly damaging |
Het |
| Notch2 |
A |
T |
3: 98,050,304 (GRCm39) |
I1860F |
probably damaging |
Het |
| Or9i14 |
A |
G |
19: 13,792,111 (GRCm39) |
I281T |
probably benign |
Het |
| Oxr1 |
T |
C |
15: 41,683,263 (GRCm39) |
S298P |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,190,082 (GRCm39) |
D2818G |
probably benign |
Het |
| Pmpcb |
G |
A |
5: 21,948,450 (GRCm39) |
A244T |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,274,151 (GRCm39) |
|
probably null |
Het |
| Polr1a |
G |
A |
6: 71,930,054 (GRCm39) |
V914M |
probably damaging |
Het |
| Rab15 |
A |
C |
12: 76,851,215 (GRCm39) |
|
probably null |
Het |
| Rasgrf1 |
G |
T |
9: 89,876,747 (GRCm39) |
S704I |
possibly damaging |
Het |
| Rsf1 |
GGCGGCGG |
GGCGGCGGGCGCGGCGG |
7: 97,229,134 (GRCm39) |
|
probably benign |
Het |
| Sart1 |
C |
A |
19: 5,438,613 (GRCm39) |
G15W |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,919,242 (GRCm39) |
*1666W |
probably null |
Het |
| Setd1b |
G |
C |
5: 123,284,622 (GRCm39) |
R184P |
unknown |
Het |
| Sfxn2 |
A |
T |
19: 46,574,179 (GRCm39) |
N123I |
probably damaging |
Het |
| Slc22a3 |
A |
G |
17: 12,677,383 (GRCm39) |
W262R |
probably damaging |
Het |
| Slc38a10 |
A |
G |
11: 119,995,905 (GRCm39) |
L1064P |
probably damaging |
Het |
| Sorcs2 |
A |
T |
5: 36,181,416 (GRCm39) |
S1077R |
possibly damaging |
Het |
| Them7 |
G |
T |
2: 105,128,171 (GRCm39) |
E51* |
probably null |
Het |
| Ubc |
A |
G |
5: 125,465,133 (GRCm39) |
S65P |
possibly damaging |
Het |
| Ubqln3 |
A |
T |
7: 103,790,443 (GRCm39) |
M549K |
possibly damaging |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,529 (GRCm39) |
L228P |
probably damaging |
Het |
| Vmn2r60 |
A |
G |
7: 41,844,535 (GRCm39) |
T633A |
probably damaging |
Het |
| Zfp382 |
T |
C |
7: 29,832,700 (GRCm39) |
V117A |
probably benign |
Het |
| Zic1 |
C |
T |
9: 91,247,745 (GRCm39) |
|
probably benign |
Het |
| Zmym4 |
A |
T |
4: 126,819,409 (GRCm39) |
F165I |
probably benign |
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 |
|
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'- CTCGAAGCAGAGATTCTTTCTATG -3'
(R):5'- TGTGGCAGGCTCTAACACAC -3'
Sequencing Primer
(F):5'- CTATGCATTTACGTTCTATAGTGGAG -3'
(R):5'- TCTAACACACTCACCTTCCGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation