Incidental Mutation 'IGL02014:Pah'
| ID |
183441 |
| 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 # |
IGL02014
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
87357657-87419998 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87417789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 427
(T427S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020241]
[ENSMUST00000219813]
|
| AlphaFold |
P16331 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020241
AA Change: T427S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000020241
Gene: ENSMUSG00000020051
AA Change: T427S
| 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 |
unknown
Transcript: ENSMUST00000142088
AA Change: T55S
|
| SMART Domains |
Protein: ENSMUSP00000120429
Gene: ENSMUSG00000020051
AA Change: T55S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2PHM|A
|
1 |
52 |
1e-27 |
PDB |
|
SCOP:d1phza1
|
19 |
52 |
3e-6 |
SMART |
|
| Predicted Effect |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218573
AA Change: T90S
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000219813
AA Change: T55S
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd44 |
C |
T |
1: 54,696,779 (GRCm39) |
G654S |
possibly damaging |
Het |
| Ark2c |
A |
T |
18: 77,556,055 (GRCm39) |
V167E |
probably damaging |
Het |
| Arl14ep |
C |
T |
2: 106,797,458 (GRCm39) |
A180T |
probably benign |
Het |
| Btbd9 |
A |
C |
17: 30,736,124 (GRCm39) |
S330A |
probably damaging |
Het |
| Cep78 |
T |
C |
19: 15,962,102 (GRCm39) |
D48G |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,501,681 (GRCm39) |
|
probably benign |
Het |
| Ctdsp1 |
C |
T |
1: 74,433,175 (GRCm39) |
|
probably benign |
Het |
| Gapvd1 |
G |
A |
2: 34,594,203 (GRCm39) |
P949L |
probably damaging |
Het |
| Gas6 |
T |
C |
8: 13,518,359 (GRCm39) |
T492A |
possibly damaging |
Het |
| Igbp1b |
A |
T |
6: 138,634,601 (GRCm39) |
V281D |
probably benign |
Het |
| Mapk8ip3 |
G |
A |
17: 25,122,254 (GRCm39) |
|
probably benign |
Het |
| Met |
T |
C |
6: 17,527,256 (GRCm39) |
|
probably benign |
Het |
| Mmachc |
A |
G |
4: 116,560,907 (GRCm39) |
F196S |
probably damaging |
Het |
| Or52z13 |
T |
A |
7: 103,246,937 (GRCm39) |
I138N |
probably damaging |
Het |
| Pcdh7 |
C |
A |
5: 57,877,045 (GRCm39) |
P200Q |
probably benign |
Het |
| Pde3a |
C |
A |
6: 141,404,870 (GRCm39) |
P365Q |
probably null |
Het |
| Pkm |
A |
G |
9: 59,576,244 (GRCm39) |
T143A |
possibly damaging |
Het |
| Plppr4 |
A |
G |
3: 117,129,222 (GRCm39) |
S82P |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,777,260 (GRCm39) |
E299G |
possibly damaging |
Het |
| Sdk2 |
G |
A |
11: 113,729,320 (GRCm39) |
P1086S |
probably damaging |
Het |
| Spats1 |
G |
A |
17: 45,772,166 (GRCm39) |
R81C |
probably benign |
Het |
| Spmap2l |
T |
A |
5: 77,195,002 (GRCm39) |
F59I |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,649,778 (GRCm39) |
N86S |
possibly damaging |
Het |
| Vezt |
T |
A |
10: 93,832,811 (GRCm39) |
Y10F |
probably benign |
Het |
| Vmn1r174 |
C |
A |
7: 23,453,583 (GRCm39) |
P83H |
probably damaging |
Het |
| Vmn1r218 |
C |
T |
13: 23,321,001 (GRCm39) |
T36I |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,794,462 (GRCm39) |
N889K |
possibly 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 |
|
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 |
2014-05-07 |
Incidental Mutation