Incidental Mutation 'R6636:Hgd'
| ID |
525494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hgd
|
| Ensembl Gene |
ENSMUSG00000022821 |
| Gene Name |
homogentisate 1, 2-dioxygenase |
| Synonyms |
|
| MMRRC Submission |
044757-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6636 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
37400515-37452382 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37435736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 149
(N149S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159787]
[ENSMUST00000160847]
|
| AlphaFold |
O09173 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159787
AA Change: N108S
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160847
AA Change: N149S
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125492
Gene: ENSMUSG00000022821
AA Change: N149S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HgmA
|
5 |
434 |
2e-225 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162918
|
| Meta Mutation Damage Score |
0.2788 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]
PHENOTYPE: Mutations in this gene result in high levels of urinary homogentisic acid. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
G |
15: 64,659,251 (GRCm39) |
V513A |
probably damaging |
Het |
| Adgrl4 |
G |
A |
3: 151,223,410 (GRCm39) |
W621* |
probably null |
Het |
| Ap4m1 |
A |
G |
5: 138,170,437 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,554,026 (GRCm39) |
Y68H |
probably damaging |
Het |
| AY761185 |
T |
A |
8: 21,434,556 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
T |
C |
6: 122,828,013 (GRCm39) |
D68G |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 18,985,259 (GRCm39) |
I308F |
probably damaging |
Het |
| Coq8a |
A |
T |
1: 180,006,552 (GRCm39) |
S112T |
probably benign |
Het |
| Dmgdh |
A |
T |
13: 93,845,706 (GRCm39) |
E453D |
probably benign |
Het |
| Fryl |
C |
A |
5: 73,290,655 (GRCm39) |
R83L |
probably benign |
Het |
| Gm4861 |
C |
T |
3: 137,256,760 (GRCm39) |
|
probably null |
Het |
| Gnai1 |
T |
C |
5: 18,478,472 (GRCm39) |
D231G |
probably damaging |
Het |
| Hfe |
C |
G |
13: 23,890,778 (GRCm39) |
E120D |
possibly damaging |
Het |
| Hfe |
T |
C |
13: 23,890,779 (GRCm39) |
E120G |
possibly damaging |
Het |
| Kcnb1 |
T |
C |
2: 166,947,774 (GRCm39) |
D358G |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 27,000,564 (GRCm39) |
V1653L |
probably benign |
Het |
| Lamc1 |
A |
T |
1: 153,117,721 (GRCm39) |
I947N |
possibly damaging |
Het |
| Lamp3 |
A |
G |
16: 19,519,983 (GRCm39) |
F67L |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,922,612 (GRCm39) |
I132V |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,575,255 (GRCm39) |
P1280L |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,372,342 (GRCm39) |
Y2659H |
possibly damaging |
Het |
| Nmbr |
T |
C |
10: 14,645,978 (GRCm39) |
S168P |
probably benign |
Het |
| Nsl1 |
A |
G |
1: 190,807,324 (GRCm39) |
T168A |
probably benign |
Het |
| Or2g7 |
G |
A |
17: 38,378,115 (GRCm39) |
D18N |
probably damaging |
Het |
| Or4a27 |
T |
C |
2: 88,559,185 (GRCm39) |
I253V |
probably benign |
Het |
| Or5b113 |
T |
C |
19: 13,342,589 (GRCm39) |
V199A |
probably benign |
Het |
| Or8s5 |
A |
G |
15: 98,238,831 (GRCm39) |
F13S |
probably benign |
Het |
| Pde1c |
A |
C |
6: 56,157,087 (GRCm39) |
V191G |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,256,813 (GRCm39) |
I285F |
probably benign |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Spa17 |
A |
T |
9: 37,523,270 (GRCm39) |
S6T |
probably benign |
Het |
| Spp1 |
T |
C |
5: 104,588,396 (GRCm39) |
V267A |
possibly damaging |
Het |
| Stk17b |
A |
T |
1: 53,800,247 (GRCm39) |
Y244N |
probably damaging |
Het |
| Tal1 |
A |
G |
4: 114,925,789 (GRCm39) |
N286S |
probably damaging |
Het |
| Tgm7 |
T |
A |
2: 120,931,571 (GRCm39) |
R197S |
probably damaging |
Het |
| Tmcc3 |
T |
A |
10: 94,414,286 (GRCm39) |
V27E |
probably benign |
Het |
| Topaz1 |
A |
T |
9: 122,578,851 (GRCm39) |
Q587L |
probably benign |
Het |
| Trim33 |
C |
T |
3: 103,261,035 (GRCm39) |
A1061V |
probably damaging |
Het |
| Ttll1 |
C |
G |
15: 83,384,147 (GRCm39) |
W160S |
probably damaging |
Het |
| Utp25 |
A |
T |
1: 192,796,075 (GRCm39) |
F197I |
probably damaging |
Het |
| Wnt7a |
A |
G |
6: 91,371,540 (GRCm39) |
Y141H |
probably benign |
Het |
|
| Other mutations in Hgd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00777:Hgd
|
APN |
16 |
37,433,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00851:Hgd
|
APN |
16 |
37,452,057 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01339:Hgd
|
APN |
16 |
37,452,092 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01627:Hgd
|
APN |
16 |
37,442,287 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02565:Hgd
|
APN |
16 |
37,435,749 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03098:Hgd
|
UTSW |
16 |
37,436,607 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0346:Hgd
|
UTSW |
16 |
37,409,136 (GRCm39) |
splice site |
probably benign |
|
|
R0360:Hgd
|
UTSW |
16 |
37,431,546 (GRCm39) |
splice site |
probably benign |
|
|
R0426:Hgd
|
UTSW |
16 |
37,409,047 (GRCm39) |
splice site |
probably benign |
|
|
R0799:Hgd
|
UTSW |
16 |
37,448,971 (GRCm39) |
splice site |
probably benign |
|
|
R1178:Hgd
|
UTSW |
16 |
37,435,756 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2921:Hgd
|
UTSW |
16 |
37,439,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2922:Hgd
|
UTSW |
16 |
37,439,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4791:Hgd
|
UTSW |
16 |
37,452,187 (GRCm39) |
makesense |
probably null |
|
|
R4859:Hgd
|
UTSW |
16 |
37,409,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5289:Hgd
|
UTSW |
16 |
37,448,913 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5368:Hgd
|
UTSW |
16 |
37,410,113 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5779:Hgd
|
UTSW |
16 |
37,413,733 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6140:Hgd
|
UTSW |
16 |
37,410,075 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6160:Hgd
|
UTSW |
16 |
37,433,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Hgd
|
UTSW |
16 |
37,409,078 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7450:Hgd
|
UTSW |
16 |
37,444,686 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7580:Hgd
|
UTSW |
16 |
37,439,241 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7720:Hgd
|
UTSW |
16 |
37,413,797 (GRCm39) |
missense |
probably benign |
|
|
R8966:Hgd
|
UTSW |
16 |
37,431,532 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9486:Hgd
|
UTSW |
16 |
37,413,811 (GRCm39) |
missense |
probably benign |
0.34 |
|
Z1177:Hgd
|
UTSW |
16 |
37,410,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGGAAGCATTGGAGACCTC -3'
(R):5'- GTGTCTGGACCTCACTCTTG -3'
Sequencing Primer
(F):5'- TTGTCCAAAGCCTCATCAGTGGG -3'
(R):5'- TGGACCTCACTCTTGTAGACGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation