Incidental Mutation 'R7722:Hsd17b4'
| ID |
595308 |
| 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 |
045778-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
R7722 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
50261268-50329336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 50279591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 190
(N190T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025385]
|
| AlphaFold |
P51660 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025385
AA Change: N190T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025385
Gene: ENSMUSG00000024507
AA Change: N190T
| 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 |
|
| Meta Mutation Damage Score |
0.9669 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (57/58) |
| 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 |
|---|
| Afdn |
A |
G |
17: 14,029,231 (GRCm39) |
E151G |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,483,228 (GRCm39) |
L260H |
probably damaging |
Het |
| Amh |
T |
C |
10: 80,642,458 (GRCm39) |
V247A |
probably benign |
Het |
| Ank2 |
T |
A |
3: 126,822,951 (GRCm39) |
I431L |
probably benign |
Het |
| Ano7 |
G |
A |
1: 93,318,145 (GRCm39) |
A286T |
probably damaging |
Het |
| Atp8a1 |
T |
A |
5: 67,780,041 (GRCm39) |
|
probably null |
Het |
| Brd1 |
A |
T |
15: 88,613,762 (GRCm39) |
S378T |
probably damaging |
Het |
| Clrn1 |
T |
A |
3: 58,753,755 (GRCm39) |
N202I |
possibly damaging |
Het |
| Cspp1 |
T |
C |
1: 10,145,126 (GRCm39) |
V308A |
probably benign |
Het |
| Cyp2a5 |
T |
C |
7: 26,536,543 (GRCm39) |
L174P |
probably benign |
Het |
| Ehbp1 |
G |
A |
11: 22,039,572 (GRCm39) |
H843Y |
probably null |
Het |
| Fancm |
T |
A |
12: 65,153,235 (GRCm39) |
D1230E |
probably damaging |
Het |
| Fbxl17 |
A |
T |
17: 63,663,823 (GRCm39) |
N555K |
probably damaging |
Het |
| Fmnl2 |
A |
C |
2: 52,944,479 (GRCm39) |
S153R |
|
Het |
| Fras1 |
G |
A |
5: 96,917,413 (GRCm39) |
V3478M |
probably damaging |
Het |
| Gnptab |
T |
C |
10: 88,215,390 (GRCm39) |
F37S |
probably damaging |
Het |
| Gpr183 |
T |
G |
14: 122,192,270 (GRCm39) |
I84L |
probably damaging |
Het |
| Hcn1 |
A |
G |
13: 118,039,314 (GRCm39) |
H410R |
unknown |
Het |
| Hmcn1 |
A |
G |
1: 150,543,631 (GRCm39) |
V2848A |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,272,512 (GRCm39) |
R1331* |
probably null |
Het |
| Itprid2 |
T |
C |
2: 79,492,689 (GRCm39) |
S1079P |
probably damaging |
Het |
| Kif14 |
A |
G |
1: 136,396,033 (GRCm39) |
D113G |
probably benign |
Het |
| Kmt2e |
T |
G |
5: 23,702,016 (GRCm39) |
D881E |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,373,570 (GRCm39) |
L1481Q |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,306,092 (GRCm39) |
|
probably null |
Het |
| Luc7l2 |
T |
A |
6: 38,580,243 (GRCm39) |
S281T |
unknown |
Het |
| Map3k5 |
A |
G |
10: 20,007,891 (GRCm39) |
D1240G |
probably benign |
Het |
| Med13l |
C |
A |
5: 118,885,472 (GRCm39) |
T1475K |
probably benign |
Het |
| Med17 |
G |
T |
9: 15,182,987 (GRCm39) |
Q353K |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,314,266 (GRCm39) |
V640A |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,517,201 (GRCm39) |
Y361N |
probably damaging |
Het |
| Mtmr2 |
T |
A |
9: 13,716,104 (GRCm39) |
N532K |
probably benign |
Het |
| Mtss1 |
G |
A |
15: 58,926,935 (GRCm39) |
T47I |
probably damaging |
Het |
| Mturn |
T |
C |
6: 54,676,545 (GRCm39) |
|
probably null |
Het |
| Muc20 |
A |
C |
16: 32,617,756 (GRCm39) |
S3A |
probably benign |
Het |
| Nde1 |
T |
C |
16: 14,008,128 (GRCm39) |
Y164H |
unknown |
Het |
| Neurl1b |
A |
G |
17: 26,660,132 (GRCm39) |
T451A |
probably benign |
Het |
| Or52u1 |
C |
A |
7: 104,237,505 (GRCm39) |
Q165K |
possibly damaging |
Het |
| Or8g18 |
A |
T |
9: 39,148,885 (GRCm39) |
Y278* |
probably null |
Het |
| Pgap3 |
G |
A |
11: 98,281,610 (GRCm39) |
A196V |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Scart1 |
C |
A |
7: 139,802,299 (GRCm39) |
C209* |
probably null |
Het |
| Sdcbp |
T |
A |
4: 6,385,063 (GRCm39) |
V94E |
possibly damaging |
Het |
| Sgo2a |
T |
G |
1: 58,055,696 (GRCm39) |
F627V |
probably benign |
Het |
| Skor2 |
A |
C |
18: 76,950,339 (GRCm39) |
N889T |
probably benign |
Het |
| Slc35f4 |
A |
T |
14: 49,543,731 (GRCm39) |
N288K |
probably benign |
Het |
| Slc9b2 |
T |
A |
3: 135,035,596 (GRCm39) |
V355E |
probably null |
Het |
| Smarcc2 |
A |
G |
10: 128,317,597 (GRCm39) |
E566G |
possibly damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,200,871 (GRCm39) |
E559G |
probably damaging |
Het |
| Sphkap |
T |
C |
1: 83,256,642 (GRCm39) |
D369G |
probably benign |
Het |
| Stc1 |
T |
A |
14: 69,269,729 (GRCm39) |
I103N |
possibly damaging |
Het |
| Stx8 |
T |
C |
11: 68,094,544 (GRCm39) |
V219A |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,636,158 (GRCm39) |
R582C |
possibly damaging |
Het |
| Tshz2 |
T |
A |
2: 169,727,192 (GRCm39) |
L596Q |
probably benign |
Het |
| Tti1 |
A |
G |
2: 157,849,527 (GRCm39) |
Y571H |
probably benign |
Het |
| Zbtb40 |
A |
G |
4: 136,718,829 (GRCm39) |
I956T |
probably damaging |
Het |
| Zfp990 |
A |
C |
4: 145,263,532 (GRCm39) |
N177H |
possibly 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 |
|
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 |
|
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'- CACAGGCAGAGATGATGCTG -3'
(R):5'- ACAGTGTGACAGACTCTAACAC -3'
Sequencing Primer
(F):5'- GCAGAGATGATGCTGGTGTTG -3'
(R):5'- TGTGGCAGGCTCTAACACACTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation