Incidental Mutation 'R1022:Hpd'
ID |
98776 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hpd
|
Ensembl Gene |
ENSMUSG00000029445 |
Gene Name |
4-hydroxyphenylpyruvic acid dioxygenase |
Synonyms |
Fla, Hppd, Flp, Laf |
MMRRC Submission |
039124-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R1022 (G1)
|
Quality Score |
148 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
123309870-123320786 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 123312532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 279
(R279H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031398
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031398]
[ENSMUST00000154713]
|
AlphaFold |
P49429 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031398
AA Change: R279H
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031398 Gene: ENSMUSG00000029445 AA Change: R279H
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 |
|
SMART Domains |
Protein: ENSMUSP00000118702 Gene: ENSMUSG00000029445 AA Change: R10H
Domain | Start | End | E-Value | Type |
PDB:1SQI|B
|
2 |
89 |
4e-51 |
PDB |
SCOP:d1cjxa2
|
3 |
89 |
3e-13 |
SMART |
|
Predicted Effect |
probably benign
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
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.2%
|
Validation Efficiency |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn2l |
A |
T |
7: 126,096,466 (GRCm39) |
N425K |
probably benign |
Het |
Ccar2 |
A |
G |
14: 70,377,964 (GRCm39) |
S674P |
probably damaging |
Het |
Cdc14b |
A |
T |
13: 64,363,490 (GRCm39) |
V257E |
probably damaging |
Het |
Cfap100 |
T |
A |
6: 90,389,986 (GRCm39) |
T101S |
possibly damaging |
Het |
Dock6 |
A |
T |
9: 21,744,908 (GRCm39) |
L556H |
probably damaging |
Het |
Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
Drd1 |
T |
A |
13: 54,207,333 (GRCm39) |
M294L |
probably benign |
Het |
Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
Fcho2 |
A |
T |
13: 98,869,167 (GRCm39) |
I568N |
probably damaging |
Het |
Folr1 |
A |
G |
7: 101,507,810 (GRCm39) |
M210T |
probably damaging |
Het |
Gatc |
T |
A |
5: 115,478,904 (GRCm39) |
|
probably null |
Het |
H1f7 |
G |
A |
15: 98,154,636 (GRCm39) |
T171I |
unknown |
Het |
Hnrnpd |
C |
A |
5: 100,114,016 (GRCm39) |
*87L |
probably null |
Het |
Igfals |
G |
A |
17: 25,099,457 (GRCm39) |
V183M |
probably damaging |
Het |
Marchf2 |
C |
A |
17: 33,928,762 (GRCm39) |
G45C |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,370,442 (GRCm39) |
R1067S |
probably benign |
Het |
Nell1 |
A |
G |
7: 49,770,411 (GRCm39) |
S157G |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,437,859 (GRCm39) |
E2072D |
probably damaging |
Het |
Nop2 |
T |
A |
6: 125,114,149 (GRCm39) |
V205E |
probably benign |
Het |
Nudt8 |
T |
A |
19: 4,051,925 (GRCm39) |
W179R |
probably damaging |
Het |
Or4k5 |
A |
T |
14: 50,385,384 (GRCm39) |
F316I |
probably benign |
Het |
Otx2 |
TCTGCTGCTGCTGCTGCTG |
TCTGCTGCTGCTGCTG |
14: 48,896,729 (GRCm39) |
|
probably benign |
Het |
Prl5a1 |
G |
A |
13: 28,333,880 (GRCm39) |
V128I |
probably damaging |
Het |
Pth1r |
A |
T |
9: 110,571,295 (GRCm39) |
L25Q |
probably damaging |
Het |
Pth1r |
T |
C |
9: 110,558,689 (GRCm39) |
D96G |
probably benign |
Het |
Rwdd2b |
A |
T |
16: 87,233,738 (GRCm39) |
C121S |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,438,340 (GRCm39) |
I1843T |
probably damaging |
Het |
Sirt5 |
A |
G |
13: 43,524,245 (GRCm39) |
I6V |
probably benign |
Het |
Slc5a3 |
G |
A |
16: 91,874,383 (GRCm39) |
A147T |
probably damaging |
Het |
Stxbp1 |
T |
C |
2: 32,704,979 (GRCm39) |
|
probably null |
Het |
Syt3 |
G |
T |
7: 44,040,106 (GRCm39) |
G113V |
probably damaging |
Het |
Tatdn2 |
A |
G |
6: 113,686,506 (GRCm39) |
T644A |
probably damaging |
Het |
Trim9 |
T |
A |
12: 70,298,791 (GRCm39) |
|
probably null |
Het |
Tut1 |
A |
G |
19: 8,936,719 (GRCm39) |
N181S |
probably benign |
Het |
Vmn2r90 |
A |
T |
17: 17,948,400 (GRCm39) |
I549F |
probably damaging |
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 |
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 |
|
R2414:Hpd
|
UTSW |
5 |
123,315,587 (GRCm39) |
splice 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'- GCCTCAAGTGGTCTGCTGTAACTC -3'
(R):5'- CAGACATAGATCGATGCCTGCCTC -3'
Sequencing Primer
(F):5'- ACCAACTCTGTGTGTGGC -3'
(R):5'- TCAGTTTCCCCAGCAGCG -3'
|
Posted On |
2014-01-09 |