Incidental Mutation 'IGL03374:Hpd'
ID |
420432 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hpd
|
Ensembl Gene |
ENSMUSG00000029445 |
Gene Name |
4-hydroxyphenylpyruvic acid dioxygenase |
Synonyms |
Fla, Hppd, Flp, Laf |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
IGL03374
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
123309870-123320786 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 123310108 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 372
(E372G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031398
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031398]
[ENSMUST00000056053]
[ENSMUST00000163030]
[ENSMUST00000174836]
|
AlphaFold |
P49429 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031398
AA Change: E372G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031398 Gene: ENSMUSG00000029445 AA Change: E372G
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: ENSMUST00000056053
|
SMART Domains |
Protein: ENSMUSP00000134686 Gene: ENSMUSG00000038384
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
RRM
|
103 |
176 |
6.41e-13 |
SMART |
low complexity region
|
229 |
241 |
N/A |
INTRINSIC |
internal_repeat_1
|
248 |
266 |
1.29e-7 |
PROSPERO |
internal_repeat_1
|
279 |
296 |
1.29e-7 |
PROSPERO |
low complexity region
|
366 |
381 |
N/A |
INTRINSIC |
low complexity region
|
393 |
411 |
N/A |
INTRINSIC |
low complexity region
|
422 |
448 |
N/A |
INTRINSIC |
low complexity region
|
522 |
535 |
N/A |
INTRINSIC |
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
low complexity region
|
565 |
599 |
N/A |
INTRINSIC |
low complexity region
|
650 |
746 |
N/A |
INTRINSIC |
Blast:SET
|
749 |
976 |
5e-26 |
BLAST |
low complexity region
|
979 |
992 |
N/A |
INTRINSIC |
coiled coil region
|
1053 |
1088 |
N/A |
INTRINSIC |
low complexity region
|
1136 |
1147 |
N/A |
INTRINSIC |
coiled coil region
|
1190 |
1213 |
N/A |
INTRINSIC |
low complexity region
|
1249 |
1262 |
N/A |
INTRINSIC |
low complexity region
|
1281 |
1292 |
N/A |
INTRINSIC |
low complexity region
|
1322 |
1383 |
N/A |
INTRINSIC |
low complexity region
|
1402 |
1442 |
N/A |
INTRINSIC |
low complexity region
|
1484 |
1548 |
N/A |
INTRINSIC |
low complexity region
|
1600 |
1618 |
N/A |
INTRINSIC |
N-SET
|
1692 |
1836 |
1.54e-67 |
SMART |
SET
|
1846 |
1969 |
4.03e-36 |
SMART |
PostSET
|
1969 |
1985 |
4.8e-6 |
SMART |
|
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 |
noncoding transcript
Transcript: ENSMUST00000155092
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163030
|
SMART Domains |
Protein: ENSMUSP00000133933 Gene: ENSMUSG00000038384
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
RRM
|
103 |
176 |
6.41e-13 |
SMART |
low complexity region
|
229 |
241 |
N/A |
INTRINSIC |
internal_repeat_1
|
248 |
266 |
1.29e-7 |
PROSPERO |
internal_repeat_1
|
279 |
296 |
1.29e-7 |
PROSPERO |
low complexity region
|
366 |
381 |
N/A |
INTRINSIC |
low complexity region
|
393 |
411 |
N/A |
INTRINSIC |
low complexity region
|
422 |
448 |
N/A |
INTRINSIC |
low complexity region
|
522 |
535 |
N/A |
INTRINSIC |
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
low complexity region
|
565 |
599 |
N/A |
INTRINSIC |
low complexity region
|
650 |
746 |
N/A |
INTRINSIC |
Blast:SET
|
749 |
976 |
5e-26 |
BLAST |
low complexity region
|
979 |
992 |
N/A |
INTRINSIC |
coiled coil region
|
1053 |
1088 |
N/A |
INTRINSIC |
low complexity region
|
1136 |
1147 |
N/A |
INTRINSIC |
coiled coil region
|
1190 |
1213 |
N/A |
INTRINSIC |
low complexity region
|
1249 |
1262 |
N/A |
INTRINSIC |
low complexity region
|
1281 |
1292 |
N/A |
INTRINSIC |
low complexity region
|
1322 |
1383 |
N/A |
INTRINSIC |
low complexity region
|
1402 |
1442 |
N/A |
INTRINSIC |
low complexity region
|
1484 |
1548 |
N/A |
INTRINSIC |
low complexity region
|
1600 |
1618 |
N/A |
INTRINSIC |
N-SET
|
1692 |
1836 |
1.54e-67 |
SMART |
SET
|
1846 |
1969 |
4.03e-36 |
SMART |
PostSET
|
1969 |
1985 |
4.8e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174836
|
SMART Domains |
Protein: ENSMUSP00000134461 Gene: ENSMUSG00000038384
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
RRM
|
103 |
176 |
6.41e-13 |
SMART |
low complexity region
|
229 |
241 |
N/A |
INTRINSIC |
internal_repeat_1
|
248 |
266 |
1.92e-7 |
PROSPERO |
internal_repeat_1
|
279 |
296 |
1.92e-7 |
PROSPERO |
low complexity region
|
366 |
381 |
N/A |
INTRINSIC |
low complexity region
|
393 |
411 |
N/A |
INTRINSIC |
low complexity region
|
422 |
448 |
N/A |
INTRINSIC |
low complexity region
|
522 |
535 |
N/A |
INTRINSIC |
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
low complexity region
|
565 |
599 |
N/A |
INTRINSIC |
low complexity region
|
650 |
746 |
N/A |
INTRINSIC |
Blast:SET
|
749 |
976 |
5e-26 |
BLAST |
low complexity region
|
979 |
992 |
N/A |
INTRINSIC |
coiled coil region
|
1053 |
1088 |
N/A |
INTRINSIC |
coiled coil region
|
1149 |
1172 |
N/A |
INTRINSIC |
low complexity region
|
1208 |
1221 |
N/A |
INTRINSIC |
low complexity region
|
1240 |
1251 |
N/A |
INTRINSIC |
low complexity region
|
1281 |
1342 |
N/A |
INTRINSIC |
low complexity region
|
1361 |
1401 |
N/A |
INTRINSIC |
low complexity region
|
1443 |
1507 |
N/A |
INTRINSIC |
low complexity region
|
1559 |
1577 |
N/A |
INTRINSIC |
N-SET
|
1651 |
1795 |
1.54e-67 |
SMART |
SET
|
1805 |
1928 |
4.03e-36 |
SMART |
PostSET
|
1928 |
1944 |
4.8e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199260
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181022
|
Coding Region Coverage |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox3 |
G |
A |
1: 58,211,007 (GRCm39) |
R917Q |
probably damaging |
Het |
Atl1 |
T |
C |
12: 70,002,141 (GRCm39) |
Y367H |
probably damaging |
Het |
AW551984 |
T |
C |
9: 39,511,062 (GRCm39) |
E175G |
possibly damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,561,821 (GRCm39) |
D800E |
probably damaging |
Het |
Cdon |
T |
A |
9: 35,389,299 (GRCm39) |
F801L |
possibly damaging |
Het |
Dcaf13 |
C |
T |
15: 39,008,543 (GRCm39) |
Q382* |
probably null |
Het |
Dpy19l3 |
T |
C |
7: 35,411,633 (GRCm39) |
N367S |
possibly damaging |
Het |
F11 |
A |
G |
8: 45,714,111 (GRCm39) |
S3P |
possibly damaging |
Het |
Fhip1b |
T |
C |
7: 105,033,158 (GRCm39) |
E57G |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,267,624 (GRCm39) |
|
probably benign |
Het |
Gcnt3 |
A |
T |
9: 69,941,695 (GRCm39) |
M291K |
possibly damaging |
Het |
Glg1 |
T |
C |
8: 111,889,412 (GRCm39) |
D927G |
probably damaging |
Het |
Gm5862 |
C |
A |
5: 26,224,510 (GRCm39) |
R153L |
probably damaging |
Het |
Gucy2c |
T |
C |
6: 136,742,628 (GRCm39) |
T237A |
probably benign |
Het |
Helz |
A |
T |
11: 107,510,973 (GRCm39) |
I610F |
probably damaging |
Het |
Hsd17b13 |
A |
G |
5: 104,124,964 (GRCm39) |
|
probably benign |
Het |
Klhl32 |
G |
A |
4: 24,649,533 (GRCm39) |
|
probably benign |
Het |
Krt74 |
T |
A |
15: 101,668,937 (GRCm39) |
|
noncoding transcript |
Het |
Nopchap1 |
G |
A |
10: 83,201,571 (GRCm39) |
V115M |
probably damaging |
Het |
Or14a258 |
T |
A |
7: 86,035,574 (GRCm39) |
Q98L |
probably damaging |
Het |
Or9g4b |
T |
C |
2: 85,616,053 (GRCm39) |
L66P |
probably damaging |
Het |
Phyhipl |
A |
G |
10: 70,401,109 (GRCm39) |
V163A |
possibly damaging |
Het |
Pknox2 |
T |
A |
9: 36,834,966 (GRCm39) |
T168S |
probably damaging |
Het |
Pmfbp1 |
T |
C |
8: 110,269,046 (GRCm39) |
|
probably benign |
Het |
Sgce |
G |
A |
6: 4,689,718 (GRCm39) |
R372* |
probably null |
Het |
Stard5 |
T |
C |
7: 83,285,980 (GRCm39) |
S102P |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 76,121,360 (GRCm39) |
K5941R |
possibly damaging |
Het |
Tas2r124 |
A |
T |
6: 132,732,081 (GRCm39) |
H130L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,546,027 (GRCm39) |
E32462G |
probably damaging |
Het |
Tut4 |
T |
C |
4: 108,415,974 (GRCm39) |
S1647P |
probably damaging |
Het |
Ube2d3 |
A |
G |
3: 135,165,844 (GRCm39) |
|
probably null |
Het |
Vps13d |
G |
T |
4: 144,835,145 (GRCm39) |
H1561Q |
possibly 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 |
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 |
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 |
|
Posted On |
2016-08-02 |