Incidental Mutation 'IGL01126:Phyhip'
| ID |
52713 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phyhip
|
| Ensembl Gene |
ENSMUSG00000003469 |
| Gene Name |
phytanoyl-CoA hydroxylase interacting protein |
| Synonyms |
C630010D02Rik, PAHX-AP1, PAHX-AP#1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL01126
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
70694957-70706266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70700797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 95
(S95G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003561]
[ENSMUST00000159180]
|
| AlphaFold |
Q8K0S0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003561
AA Change: S95G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000003561
Gene: ENSMUSG00000003469
AA Change: S95G
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
4 |
97 |
1.75e0 |
SMART |
|
Blast:FN3
|
145 |
217 |
2e-32 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159180
|
| SMART Domains |
Protein: ENSMUSP00000125254
Gene: ENSMUSG00000003469
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:FN3
|
4 |
88 |
7e-47 |
BLAST |
|
SCOP:d1fnf_2
|
4 |
88 |
4e-5 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Aldh9a1 |
C |
T |
1: 167,192,143 (GRCm39) |
T425I |
probably benign |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,535,846 (GRCm39) |
D939N |
unknown |
Het |
| Dnah5 |
T |
G |
15: 28,302,545 (GRCm39) |
F1601V |
possibly damaging |
Het |
| Dock7 |
A |
G |
4: 98,861,789 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,116,588 (GRCm39) |
I83V |
probably benign |
Het |
| Fbxw17 |
A |
G |
13: 50,577,336 (GRCm39) |
E76G |
possibly damaging |
Het |
| Map3k19 |
T |
A |
1: 127,752,068 (GRCm39) |
K428* |
probably null |
Het |
| Phkb |
T |
C |
8: 86,672,730 (GRCm39) |
M365T |
probably benign |
Het |
| Pla1a |
T |
C |
16: 38,228,001 (GRCm39) |
D292G |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,487,185 (GRCm39) |
V496D |
probably benign |
Het |
| Rasal3 |
T |
C |
17: 32,616,379 (GRCm39) |
T271A |
possibly damaging |
Het |
| Slc22a19 |
T |
C |
19: 7,651,648 (GRCm39) |
N520D |
possibly damaging |
Het |
| Sugp2 |
T |
C |
8: 70,704,524 (GRCm39) |
L687P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,537,590 (GRCm39) |
H34779Q |
probably benign |
Het |
| Txlna |
A |
G |
4: 129,528,158 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,129,866 (GRCm39) |
M662K |
probably benign |
Het |
| Ugt1a10 |
C |
A |
1: 87,983,709 (GRCm39) |
A169E |
possibly damaging |
Het |
|
| Other mutations in Phyhip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02742:Phyhip
|
APN |
14 |
70,699,367 (GRCm39) |
splice site |
probably null |
|
|
R0312:Phyhip
|
UTSW |
14 |
70,704,410 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0322:Phyhip
|
UTSW |
14 |
70,700,836 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0534:Phyhip
|
UTSW |
14 |
70,699,199 (GRCm39) |
start codon destroyed |
possibly damaging |
0.65 |
|
R1443:Phyhip
|
UTSW |
14 |
70,704,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Phyhip
|
UTSW |
14 |
70,699,200 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
R2169:Phyhip
|
UTSW |
14 |
70,704,572 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2209:Phyhip
|
UTSW |
14 |
70,699,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Phyhip
|
UTSW |
14 |
70,704,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5366:Phyhip
|
UTSW |
14 |
70,704,295 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5595:Phyhip
|
UTSW |
14 |
70,704,314 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5756:Phyhip
|
UTSW |
14 |
70,704,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5837:Phyhip
|
UTSW |
14 |
70,704,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5852:Phyhip
|
UTSW |
14 |
70,699,369 (GRCm39) |
splice site |
probably null |
|
|
R6106:Phyhip
|
UTSW |
14 |
70,699,299 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6159:Phyhip
|
UTSW |
14 |
70,704,294 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6209:Phyhip
|
UTSW |
14 |
70,700,798 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6246:Phyhip
|
UTSW |
14 |
70,704,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7134:Phyhip
|
UTSW |
14 |
70,704,639 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7458:Phyhip
|
UTSW |
14 |
70,699,260 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8540:Phyhip
|
UTSW |
14 |
70,704,594 (GRCm39) |
missense |
probably benign |
|
|
R8816:Phyhip
|
UTSW |
14 |
70,704,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Phyhip
|
UTSW |
14 |
70,699,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation