Incidental Mutation 'R8086:Hpd'
| ID |
629648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hpd
|
| Ensembl Gene |
ENSMUSG00000029445 |
| Gene Name |
4-hydroxyphenylpyruvic acid dioxygenase |
| Synonyms |
Fla, Hppd, Flp, Laf |
| MMRRC Submission |
067519-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R8086 (G1)
|
| Quality Score |
218.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
123309870-123320786 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123314252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 221
(Y221C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031398]
[ENSMUST00000154713]
|
| AlphaFold |
P49429 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031398
AA Change: Y221C
PolyPhen 2
Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000031398
Gene: ENSMUSG00000029445
AA Change: Y221C
| 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 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 96.4%
|
| Validation Efficiency |
98% (51/52) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,055,808 (GRCm39) |
H372L |
|
Het |
| Abcb1a |
A |
T |
5: 8,724,833 (GRCm39) |
T89S |
probably benign |
Het |
| Ago1 |
A |
G |
4: 126,354,774 (GRCm39) |
V146A |
probably benign |
Het |
| App |
T |
C |
16: 84,917,428 (GRCm39) |
Y72C |
unknown |
Het |
| Arhgap20 |
T |
C |
9: 51,760,563 (GRCm39) |
S805P |
probably benign |
Het |
| Bak1 |
T |
A |
17: 27,239,911 (GRCm39) |
R208S |
probably benign |
Het |
| Btnl4 |
A |
C |
17: 34,692,976 (GRCm39) |
|
probably null |
Het |
| Cacng7 |
T |
C |
7: 3,387,518 (GRCm39) |
S134P |
probably benign |
Het |
| Capn9 |
A |
T |
8: 125,334,692 (GRCm39) |
|
probably null |
Het |
| Cox4i1 |
T |
A |
8: 121,400,779 (GRCm39) |
M148K |
probably damaging |
Het |
| Ctnna1 |
A |
G |
18: 35,285,713 (GRCm39) |
I20V |
possibly damaging |
Het |
| Dennd2c |
T |
A |
3: 103,040,661 (GRCm39) |
Y309N |
possibly damaging |
Het |
| Dnah14 |
C |
A |
1: 181,593,797 (GRCm39) |
T3380K |
probably damaging |
Het |
| Dnajc3 |
G |
T |
14: 119,208,192 (GRCm39) |
E276* |
probably null |
Het |
| Dock10 |
C |
A |
1: 80,481,707 (GRCm39) |
C1772F |
probably benign |
Het |
| Fank1 |
A |
T |
7: 133,454,959 (GRCm39) |
E26D |
possibly damaging |
Het |
| Fcgbp |
G |
T |
7: 27,813,389 (GRCm39) |
C2308F |
probably damaging |
Het |
| Fyco1 |
A |
T |
9: 123,659,471 (GRCm39) |
M235K |
probably damaging |
Het |
| Gm7361 |
C |
T |
5: 26,465,446 (GRCm39) |
R148C |
probably damaging |
Het |
| Hinfp |
C |
T |
9: 44,210,286 (GRCm39) |
R183Q |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,230,728 (GRCm39) |
H322L |
unknown |
Het |
| Il6st |
T |
A |
13: 112,631,094 (GRCm39) |
|
probably null |
Het |
| Impa1 |
T |
C |
3: 10,387,988 (GRCm39) |
K145E |
probably benign |
Het |
| Itga9 |
A |
T |
9: 118,679,869 (GRCm39) |
M847L |
probably benign |
Het |
| Itgb6 |
A |
G |
2: 60,480,376 (GRCm39) |
V320A |
probably damaging |
Het |
| Lrrfip1 |
T |
A |
1: 91,043,630 (GRCm39) |
H678Q |
probably benign |
Het |
| Mettl16 |
A |
G |
11: 74,696,091 (GRCm39) |
T311A |
probably benign |
Het |
| Nefl |
T |
C |
14: 68,323,480 (GRCm39) |
Y369H |
probably damaging |
Het |
| Or1d2 |
C |
A |
11: 74,255,780 (GRCm39) |
P95Q |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,800,188 (GRCm39) |
Y2983C |
probably damaging |
Het |
| Potegl |
A |
G |
2: 23,130,934 (GRCm39) |
|
probably null |
Het |
| Prr5l |
C |
T |
2: 101,571,709 (GRCm39) |
E123K |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,482,500 (GRCm39) |
Y1024* |
probably null |
Het |
| Ramp2 |
T |
A |
11: 101,138,762 (GRCm39) |
L147Q |
probably damaging |
Het |
| Rassf1 |
C |
T |
9: 107,435,173 (GRCm39) |
R223C |
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,411,305 (GRCm39) |
F357L |
probably damaging |
Het |
| Rnf24 |
A |
G |
2: 131,145,468 (GRCm39) |
V114A |
probably benign |
Het |
| Slc7a1 |
T |
G |
5: 148,288,899 (GRCm39) |
N116T |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,998 (GRCm39) |
C306R |
probably damaging |
Het |
| Tatdn2 |
T |
C |
6: 113,686,482 (GRCm39) |
S697P |
probably damaging |
Het |
| Tmem67 |
T |
A |
4: 12,040,738 (GRCm39) |
N935I |
probably damaging |
Het |
| Trp73 |
G |
A |
4: 154,201,052 (GRCm39) |
P4S |
unknown |
Het |
| Vmn1r237 |
T |
G |
17: 21,534,509 (GRCm39) |
D77E |
possibly damaging |
Het |
| Vmn1r238 |
C |
T |
18: 3,123,250 (GRCm39) |
A55T |
probably damaging |
Het |
| Vsig10l |
C |
A |
7: 43,114,876 (GRCm39) |
A359E |
possibly damaging |
Het |
| Wdr24 |
T |
C |
17: 26,045,101 (GRCm39) |
Y279H |
probably damaging |
Het |
| Zbtb25 |
A |
G |
12: 76,395,923 (GRCm39) |
V433A |
probably benign |
Het |
| Zfp180 |
C |
A |
7: 23,805,535 (GRCm39) |
D651E |
probably benign |
Het |
| Zfp979 |
T |
C |
4: 147,698,004 (GRCm39) |
D235G |
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 |
|
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 |
|
|
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 |
|
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'- TAGTCCACATATTCCTGGGAGG -3'
(R):5'- TGAGGATCCTGTGTAACGGG -3'
Sequencing Primer
(F):5'- GGAGACCACTATCATTTATCCATCTG -3'
(R):5'- AACGGGTGTATGCTCAATGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation