Incidental Mutation 'IGL01299:Phyh'
| ID |
75197 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phyh
|
| Ensembl Gene |
ENSMUSG00000026664 |
| Gene Name |
phytanoyl-CoA hydroxylase |
| Synonyms |
Lnap1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01299
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
4923830-4943541 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4935604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 193
(W193R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027975
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027975]
|
| AlphaFold |
O35386 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027975
AA Change: W193R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027975
Gene: ENSMUSG00000026664
AA Change: W193R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhyH
|
61 |
277 |
1.4e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146933
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: When fed a high phytol diet, mice homozygous for a null allele exhibit hepatic lipidosis and steatosis, ataxia, peripheral neuropathy and loss of spermatogonia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,248,743 (GRCm39) |
T2830I |
probably benign |
Het |
| Akap1 |
C |
T |
11: 88,735,080 (GRCm39) |
|
probably null |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Cdk12 |
C |
T |
11: 98,101,272 (GRCm39) |
R377C |
unknown |
Het |
| Cox6b1 |
G |
A |
7: 30,316,553 (GRCm39) |
T81I |
possibly damaging |
Het |
| Creb1 |
T |
C |
1: 64,609,284 (GRCm39) |
|
probably benign |
Het |
| Cyp4f40 |
G |
T |
17: 32,886,948 (GRCm39) |
A140S |
probably benign |
Het |
| Dus4l |
A |
G |
12: 31,690,823 (GRCm39) |
M276T |
probably benign |
Het |
| Dync1h1 |
G |
T |
12: 110,580,541 (GRCm39) |
R134L |
probably benign |
Het |
| Fmo2 |
A |
T |
1: 162,705,599 (GRCm39) |
N413K |
probably benign |
Het |
| Gabrp |
T |
C |
11: 33,504,476 (GRCm39) |
T280A |
probably damaging |
Het |
| Golph3l |
A |
G |
3: 95,524,588 (GRCm39) |
T217A |
possibly damaging |
Het |
| Mtr |
T |
C |
13: 12,240,536 (GRCm39) |
|
probably benign |
Het |
| Nbea |
T |
G |
3: 55,598,315 (GRCm39) |
D2398A |
probably damaging |
Het |
| Or3a4 |
T |
A |
11: 73,945,301 (GRCm39) |
I95F |
probably benign |
Het |
| Rab36 |
A |
G |
10: 74,884,298 (GRCm39) |
Q82R |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,328,639 (GRCm39) |
V2846A |
probably damaging |
Het |
| Rprd2 |
G |
A |
3: 95,683,859 (GRCm39) |
S374L |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,308,382 (GRCm39) |
R462G |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,956,349 (GRCm39) |
N808D |
probably benign |
Het |
| Tbck |
A |
T |
3: 132,430,638 (GRCm39) |
I345F |
probably damaging |
Het |
| Tor2a |
T |
A |
2: 32,649,558 (GRCm39) |
V146D |
probably damaging |
Het |
| Trpc6 |
C |
A |
9: 8,653,062 (GRCm39) |
Q623K |
probably damaging |
Het |
| Ube2q1 |
A |
G |
3: 89,688,681 (GRCm39) |
S192G |
probably damaging |
Het |
| Vnn1 |
T |
A |
10: 23,770,949 (GRCm39) |
L59Q |
probably damaging |
Het |
|
| Other mutations in Phyh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0552:Phyh
|
UTSW |
2 |
4,940,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Phyh
|
UTSW |
2 |
4,930,494 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1656:Phyh
|
UTSW |
2 |
4,943,164 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1721:Phyh
|
UTSW |
2 |
4,942,620 (GRCm39) |
missense |
probably null |
0.24 |
|
R3161:Phyh
|
UTSW |
2 |
4,942,482 (GRCm39) |
splice site |
probably benign |
|
|
R5353:Phyh
|
UTSW |
2 |
4,947,012 (GRCm39) |
unclassified |
probably benign |
|
|
R5907:Phyh
|
UTSW |
2 |
4,935,462 (GRCm39) |
splice site |
probably null |
|
|
R6093:Phyh
|
UTSW |
2 |
4,923,896 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6188:Phyh
|
UTSW |
2 |
4,932,301 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6394:Phyh
|
UTSW |
2 |
4,940,814 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7316:Phyh
|
UTSW |
2 |
4,940,855 (GRCm39) |
nonsense |
probably null |
|
|
R8510:Phyh
|
UTSW |
2 |
4,932,244 (GRCm39) |
missense |
probably benign |
|
|
R8798:Phyh
|
UTSW |
2 |
4,923,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9048:Phyh
|
UTSW |
2 |
4,932,249 (GRCm39) |
missense |
probably benign |
|
|
R9200:Phyh
|
UTSW |
2 |
4,932,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9482:Phyh
|
UTSW |
2 |
4,923,863 (GRCm39) |
start gained |
probably benign |
|
|
X0060:Phyh
|
UTSW |
2 |
4,943,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation