Incidental Mutation 'IGL01668:Pah'
| ID |
103364 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pah
|
| Ensembl Gene |
ENSMUSG00000020051 |
| Gene Name |
phenylalanine hydroxylase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01668
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
87357657-87419998 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87414123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 324
(I324N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020241]
[ENSMUST00000219813]
|
| AlphaFold |
P16331 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020241
AA Change: I324N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020241
Gene: ENSMUSG00000020051
AA Change: I324N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACT
|
35 |
100 |
1.8e-10 |
PFAM |
|
Pfam:Biopterin_H
|
119 |
449 |
1.3e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218573
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219813
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for ENU-induced mutations of this gene have altered serum and urine phenylalanine levels and may display reduced body size, microcephaly, microphthalmia, decreased litter size, hypopigmentation, impaired balance/swimming, cognitive deficits, and environmentally-induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3d1 |
A |
G |
10: 80,554,993 (GRCm39) |
V444A |
possibly damaging |
Het |
| Chd9 |
A |
T |
8: 91,753,404 (GRCm39) |
H1799L |
possibly damaging |
Het |
| Cic |
C |
T |
7: 24,990,629 (GRCm39) |
P1108S |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,773,264 (GRCm39) |
S86P |
probably damaging |
Het |
| Cldn16 |
T |
A |
16: 26,301,296 (GRCm39) |
Y201* |
probably null |
Het |
| Col6a6 |
C |
A |
9: 105,586,470 (GRCm39) |
R1850S |
probably damaging |
Het |
| Cryge |
A |
G |
1: 65,087,857 (GRCm39) |
Y151H |
probably damaging |
Het |
| Dhcr7 |
T |
A |
7: 143,397,048 (GRCm39) |
V180D |
probably damaging |
Het |
| Dmwd |
C |
T |
7: 18,815,080 (GRCm39) |
R577W |
probably damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,377 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5901 |
C |
T |
7: 105,026,771 (GRCm39) |
R180C |
probably benign |
Het |
| Hook2 |
A |
T |
8: 85,720,207 (GRCm39) |
Y131F |
possibly damaging |
Het |
| Hsf1 |
T |
C |
15: 76,381,162 (GRCm39) |
|
probably null |
Het |
| Ighv1-62-3 |
A |
G |
12: 115,424,613 (GRCm39) |
|
probably benign |
Het |
| Ikbke |
T |
G |
1: 131,184,675 (GRCm39) |
D666A |
probably benign |
Het |
| Il1r1 |
C |
T |
1: 40,352,489 (GRCm39) |
T556I |
probably benign |
Het |
| Larp4 |
T |
C |
15: 99,885,355 (GRCm39) |
S69P |
probably damaging |
Het |
| Lrrc27 |
G |
T |
7: 138,807,827 (GRCm39) |
|
probably benign |
Het |
| Marchf2 |
A |
C |
17: 33,922,070 (GRCm39) |
W97G |
probably damaging |
Het |
| Or4c10b |
C |
A |
2: 89,711,443 (GRCm39) |
P91Q |
probably benign |
Het |
| Or5b21 |
A |
G |
19: 12,839,231 (GRCm39) |
I31V |
probably benign |
Het |
| Or8k28 |
A |
G |
2: 86,285,746 (GRCm39) |
Y290H |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,476,205 (GRCm39) |
E447G |
probably benign |
Het |
| Prex2 |
T |
C |
1: 11,223,869 (GRCm39) |
V731A |
probably benign |
Het |
| Prpsap2 |
A |
G |
11: 61,646,277 (GRCm39) |
V44A |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,415,941 (GRCm39) |
N1724D |
probably damaging |
Het |
| Sap130 |
A |
G |
18: 31,813,493 (GRCm39) |
N517D |
probably damaging |
Het |
| Slc13a3 |
A |
C |
2: 165,272,212 (GRCm39) |
F277C |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,339,119 (GRCm39) |
T86A |
probably benign |
Het |
| Tbc1d32 |
A |
T |
10: 55,999,673 (GRCm39) |
V833D |
probably benign |
Het |
| Washc2 |
A |
G |
6: 116,239,299 (GRCm39) |
D1290G |
probably damaging |
Het |
| Wdr87-ps |
G |
A |
7: 29,236,855 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Pah |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00479:Pah
|
APN |
10 |
87,414,755 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00823:Pah
|
APN |
10 |
87,406,193 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL01350:Pah
|
APN |
10 |
87,414,221 (GRCm39) |
intron |
probably benign |
|
|
IGL01794:Pah
|
APN |
10 |
87,414,784 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01956:Pah
|
APN |
10 |
87,374,061 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01985:Pah
|
APN |
10 |
87,414,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02014:Pah
|
APN |
10 |
87,417,789 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02552:Pah
|
APN |
10 |
87,414,707 (GRCm39) |
intron |
probably benign |
|
|
IGL03096:Pah
|
APN |
10 |
87,374,104 (GRCm39) |
critical splice donor site |
probably null |
|
|
bronze
|
UTSW |
10 |
87,406,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
parakeet
|
UTSW |
10 |
87,412,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
skeet
|
UTSW |
10 |
87,374,081 (GRCm39) |
nonsense |
probably null |
|
|
R0238:Pah
|
UTSW |
10 |
87,403,143 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0239:Pah
|
UTSW |
10 |
87,403,143 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0239:Pah
|
UTSW |
10 |
87,403,143 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0839:Pah
|
UTSW |
10 |
87,357,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0853:Pah
|
UTSW |
10 |
87,412,080 (GRCm39) |
splice site |
probably null |
|
|
R1474:Pah
|
UTSW |
10 |
87,414,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Pah
|
UTSW |
10 |
87,403,330 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1886:Pah
|
UTSW |
10 |
87,364,190 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2179:Pah
|
UTSW |
10 |
87,403,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2852:Pah
|
UTSW |
10 |
87,403,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3818:Pah
|
UTSW |
10 |
87,357,866 (GRCm39) |
start gained |
probably benign |
|
|
R4509:Pah
|
UTSW |
10 |
87,412,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4725:Pah
|
UTSW |
10 |
87,390,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Pah
|
UTSW |
10 |
87,406,129 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5094:Pah
|
UTSW |
10 |
87,374,081 (GRCm39) |
nonsense |
probably null |
|
|
R5766:Pah
|
UTSW |
10 |
87,403,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6210:Pah
|
UTSW |
10 |
87,419,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6273:Pah
|
UTSW |
10 |
87,412,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6345:Pah
|
UTSW |
10 |
87,412,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6349:Pah
|
UTSW |
10 |
87,414,831 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7109:Pah
|
UTSW |
10 |
87,406,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7470:Pah
|
UTSW |
10 |
87,399,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7511:Pah
|
UTSW |
10 |
87,390,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8288:Pah
|
UTSW |
10 |
87,374,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8447:Pah
|
UTSW |
10 |
87,417,827 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8684:Pah
|
UTSW |
10 |
87,414,827 (GRCm39) |
missense |
probably benign |
|
|
R9216:Pah
|
UTSW |
10 |
87,357,888 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9292:Pah
|
UTSW |
10 |
87,403,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9589:Pah
|
UTSW |
10 |
87,403,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Pah
|
UTSW |
10 |
87,407,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation