Incidental Mutation 'R2414:Hpd'
| ID |
250097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hpd
|
| Ensembl Gene |
ENSMUSG00000029445 |
| Gene Name |
4-hydroxyphenylpyruvic acid dioxygenase |
| Synonyms |
Fla, Hppd, Flp, Laf |
| MMRRC Submission |
040378-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R2414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
123309870-123320786 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 123315587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031398]
[ENSMUST00000154713]
|
| AlphaFold |
P49429 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031398
|
| SMART Domains |
Protein: ENSMUSP00000031398
Gene: ENSMUSG00000029445
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyoxalase
|
18 |
138 |
5.6e-10 |
PFAM |
|
Pfam:Glyoxalase_4
|
20 |
134 |
7.7e-10 |
PFAM |
|
Pfam:Glyoxalase_2
|
24 |
147 |
4.5e-9 |
PFAM |
|
Pfam:Glyoxalase
|
180 |
335 |
2.1e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124110
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144679
|
| SMART Domains |
Protein: ENSMUSP00000118702
Gene: ENSMUSG00000029445
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1SQI|B
|
2 |
89 |
4e-51 |
PDB |
|
SCOP:d1cjxa2
|
3 |
89 |
3e-13 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000154713
|
| SMART Domains |
Protein: ENSMUSP00000121922
Gene: ENSMUSG00000029445
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1cjxa1
|
1 |
122 |
3e-13 |
SMART |
|
PDB:1SQI|B
|
1 |
159 |
1e-113 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155092
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199260
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
PHENOTYPE: CBA, C3H, DBA/2, SM and AKR have the F.1 form of this soluble liver antigen; A/J, A2G, BALB/c and C57BL/10 the F.2 form. F.2 antigen induces precipitating antibodies in F.1 but not F.2 strains and vice versa. F antigen immune response requires H2 Kk or Ak alleles. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr2 |
C |
A |
9: 121,738,040 (GRCm39) |
S138R |
probably damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,687,424 (GRCm39) |
E216G |
probably benign |
Het |
| Aspscr1 |
T |
C |
11: 120,580,048 (GRCm39) |
S196P |
probably benign |
Het |
| AU040320 |
A |
T |
4: 126,762,484 (GRCm39) |
|
probably null |
Het |
| BC002059 |
T |
C |
17: 17,193,932 (GRCm39) |
|
noncoding transcript |
Het |
| Cep112 |
A |
G |
11: 108,643,408 (GRCm39) |
N799S |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,181,927 (GRCm39) |
|
probably benign |
Het |
| Cpn2 |
T |
C |
16: 30,079,392 (GRCm39) |
E103G |
probably benign |
Het |
| Cpt1b |
G |
A |
15: 89,304,283 (GRCm39) |
|
probably benign |
Het |
| Epor |
T |
A |
9: 21,870,785 (GRCm39) |
D365V |
probably damaging |
Het |
| H2bc21 |
T |
A |
3: 96,128,750 (GRCm39) |
I90N |
possibly damaging |
Het |
| Hip1r |
T |
C |
5: 124,139,306 (GRCm39) |
Y900H |
probably damaging |
Het |
| Hoxc9 |
A |
T |
15: 102,892,540 (GRCm39) |
N251I |
probably damaging |
Het |
| Lrrc34 |
T |
A |
3: 30,688,711 (GRCm39) |
I197L |
probably benign |
Het |
| Msi2 |
A |
G |
11: 88,607,373 (GRCm39) |
V78A |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,141,594 (GRCm39) |
I818V |
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,956,629 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,496,582 (GRCm39) |
N362S |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,945,054 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,289,831 (GRCm39) |
|
probably null |
Het |
| Sgsm3 |
A |
G |
15: 80,890,946 (GRCm39) |
N136D |
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,181,976 (GRCm39) |
C583R |
probably damaging |
Het |
| Surf1 |
A |
G |
2: 26,806,295 (GRCm39) |
W13R |
probably damaging |
Het |
| Tesk2 |
T |
C |
4: 116,658,954 (GRCm39) |
W276R |
possibly damaging |
Het |
| Tmem8b |
A |
G |
4: 43,673,892 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
G |
17: 72,023,304 (GRCm39) |
|
probably benign |
Het |
| Ttll11 |
A |
G |
2: 35,869,546 (GRCm39) |
S31P |
unknown |
Het |
| Ttll8 |
A |
G |
15: 88,820,336 (GRCm39) |
|
probably benign |
Het |
| Tub |
A |
G |
7: 108,626,240 (GRCm39) |
K259E |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,439,683 (GRCm39) |
I162M |
probably benign |
Het |
| Vamp8 |
C |
T |
6: 72,365,326 (GRCm39) |
M1I |
probably null |
Het |
| Zfp503 |
C |
A |
14: 22,036,032 (GRCm39) |
G295* |
probably null |
Het |
|
| Other mutations in Hpd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02483:Hpd
|
APN |
5 |
123,320,641 (GRCm39) |
splice site |
probably null |
|
|
IGL02510:Hpd
|
APN |
5 |
123,319,973 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02574:Hpd
|
APN |
5 |
123,317,420 (GRCm39) |
splice site |
probably benign |
|
|
IGL02642:Hpd
|
APN |
5 |
123,319,503 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03374:Hpd
|
APN |
5 |
123,310,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Intermediary
|
UTSW |
5 |
123,315,587 (GRCm39) |
splice site |
probably null |
|
|
metabolism
|
UTSW |
5 |
123,312,443 (GRCm39) |
missense |
probably benign |
|
|
pyruvian
|
UTSW |
5 |
123,316,255 (GRCm39) |
nonsense |
probably null |
|
|
R0079:Hpd
|
UTSW |
5 |
123,319,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1022:Hpd
|
UTSW |
5 |
123,312,532 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1024:Hpd
|
UTSW |
5 |
123,312,532 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1165:Hpd
|
UTSW |
5 |
123,314,153 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6572:Hpd
|
UTSW |
5 |
123,318,739 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6604:Hpd
|
UTSW |
5 |
123,318,964 (GRCm39) |
splice site |
probably null |
|
|
R6616:Hpd
|
UTSW |
5 |
123,310,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7539:Hpd
|
UTSW |
5 |
123,316,255 (GRCm39) |
nonsense |
probably null |
|
|
R7952:Hpd
|
UTSW |
5 |
123,316,327 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8023:Hpd
|
UTSW |
5 |
123,314,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8086:Hpd
|
UTSW |
5 |
123,314,252 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8134:Hpd
|
UTSW |
5 |
123,312,443 (GRCm39) |
missense |
probably benign |
|
|
R9029:Hpd
|
UTSW |
5 |
123,313,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9390:Hpd
|
UTSW |
5 |
123,318,794 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9483:Hpd
|
UTSW |
5 |
123,312,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9532:Hpd
|
UTSW |
5 |
123,312,532 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9641:Hpd
|
UTSW |
5 |
123,310,052 (GRCm39) |
missense |
probably benign |
|
|
R9664:Hpd
|
UTSW |
5 |
123,318,948 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0023:Hpd
|
UTSW |
5 |
123,312,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Hpd
|
UTSW |
5 |
123,319,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTAGACCCAAGAAGCAAC -3'
(R):5'- CAGCTGTTCAGTTAACCACG -3'
Sequencing Primer
(F):5'- TGGTAGACCCAAGAAGCAACTCTTG -3'
(R):5'- TCAGTTAACCACGGCTGATG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation