Incidental Mutation 'IGL00771:Urod'
| ID |
14727 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Urod
|
| Ensembl Gene |
ENSMUSG00000028684 |
| Gene Name |
uroporphyrinogen decarboxylase |
| Synonyms |
Uro-d |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00771
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
116847162-116851610 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116847581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 336
(N336S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030446]
[ENSMUST00000044823]
[ENSMUST00000050067]
[ENSMUST00000130273]
|
| AlphaFold |
P70697 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030446
AA Change: N336S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030446
Gene: ENSMUSG00000028684
AA Change: N336S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:URO-D
|
14 |
360 |
2.4e-135 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044823
|
| SMART Domains |
Protein: ENSMUSP00000049474
Gene: ENSMUSG00000033948
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
182 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
995 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050067
|
| SMART Domains |
Protein: ENSMUSP00000051922
Gene: ENSMUSG00000046861
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
81 |
N/A |
INTRINSIC |
|
APC10
|
237 |
391 |
6.75e-23 |
SMART |
|
HECTc
|
514 |
857 |
1.27e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123079
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127635
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130273
|
| SMART Domains |
Protein: ENSMUSP00000116154
Gene: ENSMUSG00000028684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:URO-D
|
1 |
64 |
1.2e-18 |
PFAM |
|
Pfam:URO-D
|
60 |
120 |
4e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135164
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes an enzyme that catalyzes the conversion of uroporphyrinogen-III to coproporphyrinogen-III, an intermediate step in heme biosynthesis. Homozygous knockout mice for this gene exhibit embryonic lethality. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous inactivation of this loci results in embryonic lethality. Though heterozygous mutant mice are overtly normal, they are susceptible to hepatic iron loading and porphyria. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
A |
G |
17: 48,452,855 (GRCm39) |
L28S |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,240,870 (GRCm39) |
L911Q |
probably damaging |
Het |
| Armc9 |
C |
A |
1: 86,127,557 (GRCm39) |
|
probably null |
Het |
| Asxl2 |
A |
G |
12: 3,524,560 (GRCm39) |
H196R |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,404,354 (GRCm39) |
D1329G |
probably benign |
Het |
| Cds2 |
T |
C |
2: 132,146,272 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,233,861 (GRCm39) |
C2184S |
probably damaging |
Het |
| Cpeb2 |
T |
C |
5: 43,394,890 (GRCm39) |
F623L |
possibly damaging |
Het |
| Dmd |
G |
A |
X: 82,951,978 (GRCm39) |
|
probably null |
Het |
| F11r |
T |
A |
1: 171,290,510 (GRCm39) |
|
probably null |
Het |
| Gbp3 |
C |
T |
3: 142,271,005 (GRCm39) |
|
probably benign |
Het |
| Gpc4 |
A |
G |
X: 51,163,527 (GRCm39) |
S119P |
possibly damaging |
Het |
| H2-M10.2 |
A |
G |
17: 36,597,288 (GRCm39) |
L9P |
probably damaging |
Het |
| Ica1l |
T |
C |
1: 60,053,106 (GRCm39) |
D144G |
probably damaging |
Het |
| Jaml |
A |
G |
9: 45,005,105 (GRCm39) |
K124E |
possibly damaging |
Het |
| Lamc2 |
T |
C |
1: 153,005,802 (GRCm39) |
N950S |
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,669,511 (GRCm39) |
D1099V |
probably damaging |
Het |
| Mlxipl |
C |
T |
5: 135,161,632 (GRCm39) |
T517I |
probably damaging |
Het |
| Nbeal1 |
C |
T |
1: 60,274,512 (GRCm39) |
R308C |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,013,567 (GRCm39) |
L561* |
probably null |
Het |
| Prom1 |
A |
T |
5: 44,187,118 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
T |
A |
1: 138,041,415 (GRCm39) |
E148V |
probably benign |
Het |
| Rap1gap |
T |
C |
4: 137,443,835 (GRCm39) |
V224A |
probably damaging |
Het |
| Slc7a6 |
T |
C |
8: 106,905,872 (GRCm39) |
S35P |
probably benign |
Het |
| Snx17 |
C |
T |
5: 31,354,679 (GRCm39) |
R314C |
probably damaging |
Het |
| Spats2l |
T |
C |
1: 57,982,231 (GRCm39) |
L371P |
probably damaging |
Het |
| Spsb1 |
C |
T |
4: 149,991,564 (GRCm39) |
M1I |
probably null |
Het |
| Sv2a |
G |
A |
3: 96,100,600 (GRCm39) |
V661I |
probably benign |
Het |
| Taar7b |
T |
A |
10: 23,876,096 (GRCm39) |
V87E |
probably benign |
Het |
| Tcf7l2 |
G |
A |
19: 55,905,853 (GRCm39) |
V292I |
probably damaging |
Het |
| Teddm1b |
T |
A |
1: 153,750,340 (GRCm39) |
C50S |
possibly damaging |
Het |
| Trmt10a |
A |
G |
3: 137,856,216 (GRCm39) |
D159G |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,567,353 (GRCm39) |
|
probably null |
Het |
| Zfp182 |
A |
G |
X: 20,896,896 (GRCm39) |
Y467H |
probably damaging |
Het |
|
| Other mutations in Urod |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02174:Urod
|
APN |
4 |
116,847,479 (GRCm39) |
unclassified |
probably benign |
|
|
P0042:Urod
|
UTSW |
4 |
116,850,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Urod
|
UTSW |
4 |
116,848,473 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3755:Urod
|
UTSW |
4 |
116,850,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4230:Urod
|
UTSW |
4 |
116,849,880 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4731:Urod
|
UTSW |
4 |
116,848,870 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4732:Urod
|
UTSW |
4 |
116,848,870 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4733:Urod
|
UTSW |
4 |
116,848,870 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5277:Urod
|
UTSW |
4 |
116,847,482 (GRCm39) |
unclassified |
probably benign |
|
|
R7080:Urod
|
UTSW |
4 |
116,849,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8730:Urod
|
UTSW |
4 |
116,850,729 (GRCm39) |
intron |
probably benign |
|
|
R9701:Urod
|
UTSW |
4 |
116,849,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation