Incidental Mutation 'IGL03374:Phyhipl'
ID |
420414 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Phyhipl
|
Ensembl Gene |
ENSMUSG00000037747 |
Gene Name |
phytanoyl-CoA hydroxylase interacting protein-like |
Synonyms |
4921522K17Rik, PHY2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
IGL03374
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
70393516-70435121 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 70401109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 163
(V163A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045807
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046513]
[ENSMUST00000162251]
|
AlphaFold |
Q8BGT8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046513
AA Change: V163A
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000045807 Gene: ENSMUSG00000037747 AA Change: V163A
Domain | Start | End | E-Value | Type |
FN3
|
49 |
142 |
6.16e-2 |
SMART |
Blast:FN3
|
188 |
262 |
2e-45 |
BLAST |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000162144
AA Change: V150A
|
SMART Domains |
Protein: ENSMUSP00000124828 Gene: ENSMUSG00000037747 AA Change: V150A
Domain | Start | End | E-Value | Type |
FN3
|
37 |
130 |
6.16e-2 |
SMART |
Blast:FN3
|
176 |
212 |
1e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162251
AA Change: V118A
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000125179 Gene: ENSMUSG00000037747 AA Change: V118A
Domain | Start | End | E-Value | Type |
FN3
|
4 |
97 |
6.16e-2 |
SMART |
Blast:FN3
|
143 |
217 |
9e-46 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162470
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163054
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox3 |
G |
A |
1: 58,211,007 (GRCm39) |
R917Q |
probably damaging |
Het |
Atl1 |
T |
C |
12: 70,002,141 (GRCm39) |
Y367H |
probably damaging |
Het |
AW551984 |
T |
C |
9: 39,511,062 (GRCm39) |
E175G |
possibly damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,561,821 (GRCm39) |
D800E |
probably damaging |
Het |
Cdon |
T |
A |
9: 35,389,299 (GRCm39) |
F801L |
possibly damaging |
Het |
Dcaf13 |
C |
T |
15: 39,008,543 (GRCm39) |
Q382* |
probably null |
Het |
Dpy19l3 |
T |
C |
7: 35,411,633 (GRCm39) |
N367S |
possibly damaging |
Het |
F11 |
A |
G |
8: 45,714,111 (GRCm39) |
S3P |
possibly damaging |
Het |
Fhip1b |
T |
C |
7: 105,033,158 (GRCm39) |
E57G |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,267,624 (GRCm39) |
|
probably benign |
Het |
Gcnt3 |
A |
T |
9: 69,941,695 (GRCm39) |
M291K |
possibly damaging |
Het |
Glg1 |
T |
C |
8: 111,889,412 (GRCm39) |
D927G |
probably damaging |
Het |
Gm5862 |
C |
A |
5: 26,224,510 (GRCm39) |
R153L |
probably damaging |
Het |
Gucy2c |
T |
C |
6: 136,742,628 (GRCm39) |
T237A |
probably benign |
Het |
Helz |
A |
T |
11: 107,510,973 (GRCm39) |
I610F |
probably damaging |
Het |
Hpd |
T |
C |
5: 123,310,108 (GRCm39) |
E372G |
probably damaging |
Het |
Hsd17b13 |
A |
G |
5: 104,124,964 (GRCm39) |
|
probably benign |
Het |
Klhl32 |
G |
A |
4: 24,649,533 (GRCm39) |
|
probably benign |
Het |
Krt74 |
T |
A |
15: 101,668,937 (GRCm39) |
|
noncoding transcript |
Het |
Nopchap1 |
G |
A |
10: 83,201,571 (GRCm39) |
V115M |
probably damaging |
Het |
Or14a258 |
T |
A |
7: 86,035,574 (GRCm39) |
Q98L |
probably damaging |
Het |
Or9g4b |
T |
C |
2: 85,616,053 (GRCm39) |
L66P |
probably damaging |
Het |
Pknox2 |
T |
A |
9: 36,834,966 (GRCm39) |
T168S |
probably damaging |
Het |
Pmfbp1 |
T |
C |
8: 110,269,046 (GRCm39) |
|
probably benign |
Het |
Sgce |
G |
A |
6: 4,689,718 (GRCm39) |
R372* |
probably null |
Het |
Stard5 |
T |
C |
7: 83,285,980 (GRCm39) |
S102P |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 76,121,360 (GRCm39) |
K5941R |
possibly damaging |
Het |
Tas2r124 |
A |
T |
6: 132,732,081 (GRCm39) |
H130L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,546,027 (GRCm39) |
E32462G |
probably damaging |
Het |
Tut4 |
T |
C |
4: 108,415,974 (GRCm39) |
S1647P |
probably damaging |
Het |
Ube2d3 |
A |
G |
3: 135,165,844 (GRCm39) |
|
probably null |
Het |
Vps13d |
G |
T |
4: 144,835,145 (GRCm39) |
H1561Q |
possibly damaging |
Het |
|
Other mutations in Phyhipl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02140:Phyhipl
|
APN |
10 |
70,406,660 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4366001:Phyhipl
|
UTSW |
10 |
70,404,788 (GRCm39) |
missense |
probably benign |
|
R0512:Phyhipl
|
UTSW |
10 |
70,404,748 (GRCm39) |
missense |
probably damaging |
0.99 |
R0688:Phyhipl
|
UTSW |
10 |
70,395,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R1136:Phyhipl
|
UTSW |
10 |
70,404,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R1465:Phyhipl
|
UTSW |
10 |
70,406,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R1465:Phyhipl
|
UTSW |
10 |
70,406,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R1802:Phyhipl
|
UTSW |
10 |
70,434,855 (GRCm39) |
missense |
probably benign |
|
R1978:Phyhipl
|
UTSW |
10 |
70,395,591 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4077:Phyhipl
|
UTSW |
10 |
70,404,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R4960:Phyhipl
|
UTSW |
10 |
70,404,815 (GRCm39) |
missense |
probably benign |
0.40 |
R4976:Phyhipl
|
UTSW |
10 |
70,404,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R5119:Phyhipl
|
UTSW |
10 |
70,404,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R5739:Phyhipl
|
UTSW |
10 |
70,395,399 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6303:Phyhipl
|
UTSW |
10 |
70,395,387 (GRCm39) |
splice site |
probably null |
|
R6304:Phyhipl
|
UTSW |
10 |
70,395,387 (GRCm39) |
splice site |
probably null |
|
R6649:Phyhipl
|
UTSW |
10 |
70,404,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R9150:Phyhipl
|
UTSW |
10 |
70,404,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R9237:Phyhipl
|
UTSW |
10 |
70,406,720 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9293:Phyhipl
|
UTSW |
10 |
70,401,116 (GRCm39) |
missense |
probably damaging |
0.97 |
R9461:Phyhipl
|
UTSW |
10 |
70,395,243 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9595:Phyhipl
|
UTSW |
10 |
70,395,512 (GRCm39) |
nonsense |
probably null |
|
X0022:Phyhipl
|
UTSW |
10 |
70,404,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2016-08-02 |