Incidental Mutation 'IGL02742:Phyhip'
ID |
305958 |
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: 0.060)
|
Stock # |
IGL02742
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
70694957-70706266 bp(+) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
A to G
at 70699367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125254
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003561]
[ENSMUST00000159180]
|
AlphaFold |
Q8K0S0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000003561
|
SMART Domains |
Protein: ENSMUSP00000003561 Gene: ENSMUSG00000003469
Domain | Start | End | E-Value | Type |
FN3
|
4 |
97 |
1.75e0 |
SMART |
Blast:FN3
|
145 |
217 |
2e-32 |
BLAST |
|
Predicted Effect |
probably null
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad11 |
A |
G |
9: 103,972,824 (GRCm39) |
T506A |
probably damaging |
Het |
Ankib1 |
A |
C |
5: 3,743,479 (GRCm39) |
D845E |
probably benign |
Het |
Atxn2 |
T |
C |
5: 121,919,399 (GRCm39) |
V369A |
possibly damaging |
Het |
Ccdc50 |
T |
A |
16: 27,225,534 (GRCm39) |
|
probably benign |
Het |
Clec2g |
A |
G |
6: 128,957,224 (GRCm39) |
I61V |
possibly damaging |
Het |
Col16a1 |
G |
A |
4: 129,955,172 (GRCm39) |
|
probably benign |
Het |
Dapk2 |
A |
G |
9: 66,139,096 (GRCm39) |
Y139C |
probably damaging |
Het |
Ecpas |
A |
G |
4: 58,840,757 (GRCm39) |
V667A |
probably damaging |
Het |
Fnip1 |
T |
C |
11: 54,384,177 (GRCm39) |
L334P |
probably damaging |
Het |
Igf1r |
A |
G |
7: 67,839,739 (GRCm39) |
E682G |
possibly damaging |
Het |
Ints8 |
T |
C |
4: 11,241,627 (GRCm39) |
E272G |
possibly damaging |
Het |
Jph2 |
G |
A |
2: 163,217,699 (GRCm39) |
P326S |
probably damaging |
Het |
Krtap1-4 |
T |
C |
11: 99,473,940 (GRCm39) |
|
probably benign |
Het |
Lrp5 |
A |
G |
19: 3,654,022 (GRCm39) |
I1135T |
probably damaging |
Het |
Lrrk1 |
A |
G |
7: 65,958,439 (GRCm39) |
V320A |
probably benign |
Het |
Myh6 |
A |
C |
14: 55,191,381 (GRCm39) |
I820S |
possibly damaging |
Het |
Napg |
A |
T |
18: 63,119,319 (GRCm39) |
T110S |
probably damaging |
Het |
Nova1 |
G |
A |
12: 46,767,475 (GRCm39) |
Q56* |
probably null |
Het |
Pkd2l2 |
C |
A |
18: 34,549,970 (GRCm39) |
S205* |
probably null |
Het |
Ppp2r1a |
G |
T |
17: 21,179,265 (GRCm39) |
C101F |
probably benign |
Het |
Serpinb3c |
G |
A |
1: 107,200,872 (GRCm39) |
R182* |
probably null |
Het |
St18 |
A |
C |
1: 6,872,540 (GRCm39) |
|
probably benign |
Het |
St6galnac4 |
C |
T |
2: 32,487,096 (GRCm39) |
R264C |
possibly damaging |
Het |
Tmem168 |
T |
C |
6: 13,603,261 (GRCm39) |
Y35C |
probably benign |
Het |
Tmem219 |
A |
G |
7: 126,496,220 (GRCm39) |
L74P |
probably damaging |
Het |
Trpc4 |
T |
A |
3: 54,206,667 (GRCm39) |
N622K |
probably damaging |
Het |
Trpm6 |
A |
C |
19: 18,807,376 (GRCm39) |
|
probably benign |
Het |
Ttl |
C |
A |
2: 128,908,213 (GRCm39) |
F49L |
possibly damaging |
Het |
Tut7 |
C |
T |
13: 59,964,156 (GRCm39) |
D250N |
probably damaging |
Het |
Vmn1r123 |
A |
T |
7: 20,896,968 (GRCm39) |
I287F |
possibly damaging |
Het |
Vmn2r97 |
T |
G |
17: 19,149,432 (GRCm39) |
I273M |
probably damaging |
Het |
Wdr5 |
C |
A |
2: 27,410,437 (GRCm39) |
|
probably benign |
Het |
Zfp37 |
C |
A |
4: 62,110,548 (GRCm39) |
C172F |
possibly damaging |
Het |
|
Other mutations in Phyhip |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01126:Phyhip
|
APN |
14 |
70,700,797 (GRCm39) |
missense |
probably benign |
|
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 |
2015-04-16 |