Incidental Mutation 'R1165:Hpd'
| ID |
100922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hpd
|
| Ensembl Gene |
ENSMUSG00000029445 |
| Gene Name |
4-hydroxyphenylpyruvic acid dioxygenase |
| Synonyms |
Fla, Hppd, Flp, Laf |
| MMRRC Submission |
039238-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R1165 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
123309870-123320786 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 123314153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031398]
[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 |
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 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
|
| Meta Mutation Damage Score |
0.9486 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.4%
|
| Validation Efficiency |
98% (50/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
G |
13: 77,482,406 (GRCm39) |
C1209G |
probably benign |
Het |
| Abcg2 |
C |
A |
6: 58,655,285 (GRCm39) |
L407I |
probably benign |
Het |
| Adtrp |
A |
G |
13: 41,967,779 (GRCm39) |
V56A |
probably damaging |
Het |
| Angptl6 |
T |
G |
9: 20,789,604 (GRCm39) |
N96T |
probably benign |
Het |
| Ank3 |
C |
A |
10: 69,734,132 (GRCm39) |
N780K |
possibly damaging |
Het |
| AU040320 |
A |
T |
4: 126,717,433 (GRCm39) |
|
probably benign |
Het |
| Best2 |
C |
T |
8: 85,737,789 (GRCm39) |
R202H |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,978,396 (GRCm39) |
S973T |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,466,212 (GRCm39) |
V1992E |
probably damaging |
Het |
| Casp8ap2 |
C |
T |
4: 32,640,563 (GRCm39) |
P539L |
probably benign |
Het |
| Ccr1 |
A |
T |
9: 123,763,531 (GRCm39) |
V333E |
possibly damaging |
Het |
| Celf5 |
A |
T |
10: 81,307,172 (GRCm39) |
V83E |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,257,275 (GRCm39) |
|
probably benign |
Het |
| Coro1b |
C |
A |
19: 4,199,901 (GRCm39) |
H81N |
probably damaging |
Het |
| Cwc22 |
A |
T |
2: 77,734,242 (GRCm39) |
S686T |
probably damaging |
Het |
| Cyp2d26 |
C |
A |
15: 82,678,242 (GRCm39) |
G45W |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,044,051 (GRCm39) |
N297K |
probably damaging |
Het |
| Edem1 |
T |
A |
6: 108,828,214 (GRCm39) |
L513Q |
probably damaging |
Het |
| Erich1 |
G |
A |
8: 14,140,530 (GRCm39) |
|
probably benign |
Het |
| Fam91a1 |
T |
C |
15: 58,302,518 (GRCm39) |
V286A |
possibly damaging |
Het |
| Fdxr |
C |
A |
11: 115,162,608 (GRCm39) |
|
probably benign |
Het |
| Gas7 |
T |
C |
11: 67,561,512 (GRCm39) |
|
probably benign |
Het |
| Glb1l2 |
T |
C |
9: 26,705,397 (GRCm39) |
D151G |
probably damaging |
Het |
| Gm14410 |
A |
C |
2: 176,885,282 (GRCm39) |
Y327* |
probably null |
Het |
| Grep1 |
A |
C |
17: 23,929,489 (GRCm39) |
|
probably benign |
Het |
| H6pd |
A |
G |
4: 150,080,413 (GRCm39) |
I136T |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,810,947 (GRCm39) |
|
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,668,840 (GRCm39) |
T519A |
possibly damaging |
Het |
| Insyn2b |
A |
G |
11: 34,352,740 (GRCm39) |
T261A |
probably benign |
Het |
| Or6c76 |
A |
G |
10: 129,612,302 (GRCm39) |
D188G |
probably damaging |
Het |
| Or7c19 |
T |
A |
8: 85,957,400 (GRCm39) |
I92N |
probably damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,140,757 (GRCm39) |
|
probably benign |
Het |
| Pdgfrb |
T |
C |
18: 61,197,074 (GRCm39) |
I170T |
probably benign |
Het |
| Rasgrp1 |
A |
T |
2: 117,115,420 (GRCm39) |
F723I |
possibly damaging |
Het |
| Retnlg |
A |
G |
16: 48,694,017 (GRCm39) |
T58A |
possibly damaging |
Het |
| Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
| Rtel1 |
A |
G |
2: 180,976,732 (GRCm39) |
K243E |
probably benign |
Het |
| Slc19a2 |
G |
A |
1: 164,091,014 (GRCm39) |
G274D |
probably damaging |
Het |
| Slc22a27 |
T |
C |
19: 7,887,059 (GRCm39) |
|
probably null |
Het |
| Slc6a1 |
T |
C |
6: 114,288,790 (GRCm39) |
F266L |
probably damaging |
Het |
| Snx25 |
T |
G |
8: 46,488,752 (GRCm39) |
I868L |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 70,036,036 (GRCm39) |
I355V |
probably benign |
Het |
| Tmem198 |
A |
T |
1: 75,456,576 (GRCm39) |
|
probably benign |
Het |
| Traf3ip3 |
A |
C |
1: 192,866,786 (GRCm39) |
S349A |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,862,041 (GRCm39) |
N358D |
possibly damaging |
Het |
| Trmu |
A |
G |
15: 85,776,875 (GRCm39) |
T196A |
probably damaging |
Het |
| Tsen2 |
A |
G |
6: 115,538,396 (GRCm39) |
Y291C |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,853,041 (GRCm39) |
F2358L |
probably benign |
Het |
| Wnt2 |
T |
C |
6: 17,989,946 (GRCm39) |
H317R |
probably benign |
Het |
| Zfp120 |
A |
T |
2: 149,961,849 (GRCm39) |
V33E |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation