Incidental Mutation 'IGL02552:Pah'
ID |
298173 |
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 # |
IGL02552
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
87357657-87419998 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
C to T
at 87414707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151566
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020241]
[ENSMUST00000219813]
|
AlphaFold |
P16331 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020241
|
SMART Domains |
Protein: ENSMUSP00000020241 Gene: ENSMUSG00000020051
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
G |
3: 124,208,145 (GRCm39) |
L178S |
probably damaging |
Het |
Abca12 |
A |
G |
1: 71,333,906 (GRCm39) |
Y1199H |
probably damaging |
Het |
Abcc9 |
T |
C |
6: 142,551,645 (GRCm39) |
D1221G |
possibly damaging |
Het |
Apc |
T |
A |
18: 34,446,035 (GRCm39) |
M977K |
possibly damaging |
Het |
Arhgap30 |
T |
A |
1: 171,235,324 (GRCm39) |
L566Q |
probably damaging |
Het |
Arhgap40 |
T |
A |
2: 158,388,721 (GRCm39) |
W552R |
probably benign |
Het |
Astn1 |
C |
T |
1: 158,332,965 (GRCm39) |
S349F |
possibly damaging |
Het |
Bard1 |
T |
C |
1: 71,104,815 (GRCm39) |
|
probably benign |
Het |
Batf2 |
T |
A |
19: 6,221,537 (GRCm39) |
Y116N |
probably benign |
Het |
Bltp3b |
T |
A |
10: 89,642,605 (GRCm39) |
L10* |
probably null |
Het |
Cbx6 |
T |
C |
15: 79,713,094 (GRCm39) |
H111R |
probably damaging |
Het |
Cd44 |
T |
A |
2: 102,679,076 (GRCm39) |
N242I |
probably benign |
Het |
Cdnf |
C |
T |
2: 3,525,012 (GRCm39) |
Q184* |
probably null |
Het |
Chd2 |
C |
A |
7: 73,097,068 (GRCm39) |
|
probably benign |
Het |
Cmtm6 |
G |
A |
9: 114,566,374 (GRCm39) |
V88M |
probably damaging |
Het |
Col24a1 |
C |
A |
3: 145,179,962 (GRCm39) |
S1151R |
possibly damaging |
Het |
Csta2 |
A |
G |
16: 36,073,459 (GRCm39) |
E15G |
probably damaging |
Het |
Degs1l |
T |
A |
1: 180,882,463 (GRCm39) |
V75E |
possibly damaging |
Het |
Dnajc2 |
T |
C |
5: 21,988,061 (GRCm39) |
D6G |
probably damaging |
Het |
Eif3a |
G |
A |
19: 60,751,664 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
C |
A |
2: 125,254,633 (GRCm39) |
C210F |
possibly damaging |
Het |
Fmn2 |
T |
A |
1: 174,523,286 (GRCm39) |
D1380E |
probably damaging |
Het |
Fry |
A |
T |
5: 150,304,375 (GRCm39) |
K588N |
probably damaging |
Het |
Gm18856 |
G |
A |
13: 14,139,805 (GRCm39) |
|
probably benign |
Het |
Gpr37 |
G |
T |
6: 25,688,686 (GRCm39) |
T137K |
probably benign |
Het |
Gzmc |
T |
C |
14: 56,472,039 (GRCm39) |
M1V |
probably null |
Het |
Htr5a |
T |
C |
5: 28,047,958 (GRCm39) |
V171A |
probably benign |
Het |
Ints6l |
T |
C |
X: 55,500,557 (GRCm39) |
|
probably benign |
Het |
Kcnma1 |
C |
T |
14: 23,436,327 (GRCm39) |
|
probably null |
Het |
Krt35 |
C |
T |
11: 99,983,899 (GRCm39) |
G367D |
probably benign |
Het |
Nlrp1b |
C |
T |
11: 71,063,057 (GRCm39) |
V668I |
possibly damaging |
Het |
Nlrp1b |
C |
T |
11: 71,072,878 (GRCm39) |
V322I |
possibly damaging |
Het |
Ntf3 |
T |
C |
6: 126,078,823 (GRCm39) |
N228D |
probably damaging |
Het |
Nup133 |
G |
A |
8: 124,655,994 (GRCm39) |
R496W |
possibly damaging |
Het |
Or4c10 |
T |
C |
2: 89,760,903 (GRCm39) |
V250A |
probably benign |
Het |
Or51i1 |
C |
A |
7: 103,671,463 (GRCm39) |
G21W |
probably damaging |
Het |
Pan2 |
G |
T |
10: 128,154,896 (GRCm39) |
W1112L |
probably damaging |
Het |
Pkn3 |
G |
A |
2: 29,970,879 (GRCm39) |
R209Q |
probably damaging |
Het |
Plaa |
C |
T |
4: 94,470,717 (GRCm39) |
|
probably null |
Het |
Qprt |
C |
T |
7: 126,708,027 (GRCm39) |
A135T |
probably damaging |
Het |
Rbbp6 |
T |
G |
7: 122,582,204 (GRCm39) |
S108A |
probably damaging |
Het |
Smg1 |
T |
A |
7: 117,795,117 (GRCm39) |
|
probably benign |
Het |
Spink5 |
T |
A |
18: 44,125,235 (GRCm39) |
C368S |
possibly damaging |
Het |
Sptan1 |
T |
A |
2: 29,908,486 (GRCm39) |
I1734N |
probably damaging |
Het |
Stk38l |
C |
T |
6: 146,669,031 (GRCm39) |
L170F |
probably damaging |
Het |
Tesmin |
C |
T |
19: 3,452,483 (GRCm39) |
|
probably benign |
Het |
Tjp1 |
A |
T |
7: 64,949,530 (GRCm39) |
C1697* |
probably null |
Het |
Tmco4 |
T |
C |
4: 138,785,690 (GRCm39) |
S587P |
probably benign |
Het |
Tmem208 |
G |
A |
8: 106,055,329 (GRCm39) |
|
probably null |
Het |
Trim30d |
T |
C |
7: 104,121,623 (GRCm39) |
Q224R |
probably damaging |
Het |
Trpm7 |
T |
A |
2: 126,682,699 (GRCm39) |
D390V |
probably damaging |
Het |
Uba7 |
A |
G |
9: 107,858,589 (GRCm39) |
I807V |
probably benign |
Het |
Utp18 |
C |
A |
11: 93,759,160 (GRCm39) |
C438F |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,899,707 (GRCm39) |
K191E |
possibly damaging |
Het |
Wdr27 |
A |
G |
17: 15,146,453 (GRCm39) |
S181P |
probably damaging |
Het |
Zfp462 |
T |
C |
4: 55,010,613 (GRCm39) |
Y860H |
probably damaging |
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 |
|
IGL01668:Pah
|
APN |
10 |
87,414,123 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2015-04-16 |