Incidental Mutation 'R5789:Uroc1'
| ID |
448205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uroc1
|
| Ensembl Gene |
ENSMUSG00000034456 |
| Gene Name |
urocanase domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
043383-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5789 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
90310266-90341533 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90321179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 252
(M252V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046128]
[ENSMUST00000164761]
|
| AlphaFold |
Q8VC12 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046128
AA Change: M252V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040424
Gene: ENSMUSG00000034456
AA Change: M252V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Urocanase
|
84 |
662 |
2.7e-231 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164761
AA Change: M252V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127114
Gene: ENSMUSG00000034456
AA Change: M252V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Urocanase
|
85 |
316 |
1.4e-102 |
PFAM |
|
Pfam:Urocanase
|
319 |
683 |
8.7e-144 |
PFAM |
|
| Meta Mutation Damage Score |
0.7887 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
97% (61/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,076,108 (GRCm39) |
F1200S |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,979,685 (GRCm39) |
D323V |
probably benign |
Het |
| Aloxe3 |
T |
C |
11: 69,017,265 (GRCm39) |
Y13H |
probably damaging |
Het |
| Aqp1 |
A |
G |
6: 55,313,746 (GRCm39) |
I91V |
probably benign |
Het |
| C9orf72 |
T |
A |
4: 35,226,112 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,305,831 (GRCm39) |
S318P |
probably damaging |
Het |
| Cdan1 |
A |
G |
2: 120,560,016 (GRCm39) |
F383L |
probably benign |
Het |
| Ciao3 |
T |
C |
17: 26,000,177 (GRCm39) |
C303R |
probably benign |
Het |
| Col6a2 |
T |
A |
10: 76,440,223 (GRCm39) |
E606V |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,741,807 (GRCm39) |
T2371A |
possibly damaging |
Het |
| Cops3 |
T |
C |
11: 59,721,106 (GRCm39) |
|
probably benign |
Het |
| Coq7 |
G |
T |
7: 118,128,929 (GRCm39) |
H35Q |
possibly damaging |
Het |
| Cp |
T |
A |
3: 20,011,454 (GRCm39) |
F3I |
probably benign |
Het |
| D630003M21Rik |
C |
T |
2: 158,058,734 (GRCm39) |
E389K |
possibly damaging |
Het |
| Dclre1c |
A |
T |
2: 3,438,993 (GRCm39) |
Q51L |
probably damaging |
Het |
| Dhx37 |
A |
C |
5: 125,498,103 (GRCm39) |
I702S |
possibly damaging |
Het |
| Dnah3 |
G |
T |
7: 119,542,822 (GRCm39) |
A3530D |
possibly damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,091,387 (GRCm39) |
R635G |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,354,217 (GRCm39) |
S3066G |
possibly damaging |
Het |
| Doc2b |
T |
A |
11: 75,676,941 (GRCm39) |
H144L |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,885,692 (GRCm39) |
I78N |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,523,137 (GRCm39) |
H767Q |
probably benign |
Het |
| Fam180a |
C |
A |
6: 35,290,461 (GRCm39) |
*174L |
probably null |
Het |
| Gabra1 |
A |
T |
11: 42,073,742 (GRCm39) |
|
probably benign |
Het |
| Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
| Gm16551 |
T |
A |
9: 74,756,535 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi213 |
C |
A |
1: 173,396,360 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,411,410 (GRCm39) |
V358A |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,201 (GRCm39) |
|
probably benign |
Het |
| Mrgprb13 |
A |
T |
7: 47,961,946 (GRCm39) |
|
noncoding transcript |
Het |
| Mtrex |
A |
T |
13: 113,027,819 (GRCm39) |
N680K |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,955,439 (GRCm39) |
F371S |
probably damaging |
Het |
| Nudcd1 |
G |
A |
15: 44,251,879 (GRCm39) |
Q428* |
probably null |
Het |
| Pcdhgc5 |
C |
A |
18: 37,954,559 (GRCm39) |
P611Q |
probably damaging |
Het |
| Plekhb1 |
A |
T |
7: 100,294,793 (GRCm39) |
Y193* |
probably null |
Het |
| Prrt1 |
T |
C |
17: 34,850,931 (GRCm39) |
|
probably null |
Het |
| Ptpn12 |
G |
A |
5: 21,194,013 (GRCm39) |
T753I |
possibly damaging |
Het |
| Samsn1 |
T |
C |
16: 75,673,336 (GRCm39) |
D180G |
probably damaging |
Het |
| Sh2d2a |
T |
A |
3: 87,756,820 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,045,091 (GRCm39) |
|
probably null |
Het |
| Socs3 |
T |
A |
11: 117,858,608 (GRCm39) |
Q150L |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,124,412 (GRCm39) |
V23A |
unknown |
Het |
| Tcf12 |
T |
C |
9: 71,792,518 (GRCm39) |
Y119C |
probably damaging |
Het |
| Them5 |
A |
G |
3: 94,253,908 (GRCm39) |
E210G |
probably damaging |
Het |
| Tmem135 |
A |
G |
7: 88,845,330 (GRCm39) |
F167S |
possibly damaging |
Het |
| Tmem170 |
A |
G |
8: 112,593,032 (GRCm39) |
V134A |
possibly damaging |
Het |
| Trbv20 |
A |
G |
6: 41,165,725 (GRCm39) |
Y50C |
probably damaging |
Het |
| Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,300,065 (GRCm39) |
|
probably benign |
Het |
| Yars1 |
C |
T |
4: 129,090,690 (GRCm39) |
T78M |
probably damaging |
Het |
| Zdhhc16 |
T |
A |
19: 41,926,572 (GRCm39) |
H98Q |
probably damaging |
Het |
| Zfp90 |
T |
C |
8: 107,150,605 (GRCm39) |
L106P |
probably benign |
Het |
| Zscan22 |
T |
G |
7: 12,637,853 (GRCm39) |
S82A |
probably benign |
Het |
|
| Other mutations in Uroc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00963:Uroc1
|
APN |
6 |
90,315,810 (GRCm39) |
missense |
probably benign |
|
|
IGL01015:Uroc1
|
APN |
6 |
90,335,883 (GRCm39) |
splice site |
probably benign |
|
|
IGL01386:Uroc1
|
APN |
6 |
90,323,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01449:Uroc1
|
APN |
6 |
90,315,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01514:Uroc1
|
APN |
6 |
90,340,082 (GRCm39) |
splice site |
probably benign |
|
|
IGL02060:Uroc1
|
APN |
6 |
90,315,237 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02247:Uroc1
|
APN |
6 |
90,324,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02256:Uroc1
|
APN |
6 |
90,323,669 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02886:Uroc1
|
APN |
6 |
90,323,811 (GRCm39) |
splice site |
probably benign |
|
|
IGL03087:Uroc1
|
APN |
6 |
90,340,085 (GRCm39) |
splice site |
probably benign |
|
|
PIT4651001:Uroc1
|
UTSW |
6 |
90,340,095 (GRCm39) |
nonsense |
probably null |
|
|
R0034:Uroc1
|
UTSW |
6 |
90,322,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0245:Uroc1
|
UTSW |
6 |
90,321,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0402:Uroc1
|
UTSW |
6 |
90,324,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0570:Uroc1
|
UTSW |
6 |
90,315,546 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0729:Uroc1
|
UTSW |
6 |
90,313,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1471:Uroc1
|
UTSW |
6 |
90,321,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Uroc1
|
UTSW |
6 |
90,313,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1866:Uroc1
|
UTSW |
6 |
90,338,506 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1983:Uroc1
|
UTSW |
6 |
90,322,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2086:Uroc1
|
UTSW |
6 |
90,321,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2321:Uroc1
|
UTSW |
6 |
90,324,229 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3720:Uroc1
|
UTSW |
6 |
90,323,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3874:Uroc1
|
UTSW |
6 |
90,338,494 (GRCm39) |
nonsense |
probably null |
|
|
R4628:Uroc1
|
UTSW |
6 |
90,332,310 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4810:Uroc1
|
UTSW |
6 |
90,340,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4820:Uroc1
|
UTSW |
6 |
90,334,600 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4838:Uroc1
|
UTSW |
6 |
90,326,174 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4880:Uroc1
|
UTSW |
6 |
90,334,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Uroc1
|
UTSW |
6 |
90,322,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4966:Uroc1
|
UTSW |
6 |
90,322,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5468:Uroc1
|
UTSW |
6 |
90,315,586 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5592:Uroc1
|
UTSW |
6 |
90,332,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5698:Uroc1
|
UTSW |
6 |
90,324,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5853:Uroc1
|
UTSW |
6 |
90,323,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6063:Uroc1
|
UTSW |
6 |
90,324,910 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6883:Uroc1
|
UTSW |
6 |
90,315,574 (GRCm39) |
nonsense |
probably null |
|
|
R7374:Uroc1
|
UTSW |
6 |
90,315,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7394:Uroc1
|
UTSW |
6 |
90,322,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7427:Uroc1
|
UTSW |
6 |
90,323,344 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8224:Uroc1
|
UTSW |
6 |
90,321,049 (GRCm39) |
splice site |
probably null |
|
|
R8376:Uroc1
|
UTSW |
6 |
90,314,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8807:Uroc1
|
UTSW |
6 |
90,328,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8857:Uroc1
|
UTSW |
6 |
90,334,510 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9418:Uroc1
|
UTSW |
6 |
90,313,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9440:Uroc1
|
UTSW |
6 |
90,322,353 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0021:Uroc1
|
UTSW |
6 |
90,321,132 (GRCm39) |
missense |
probably benign |
0.40 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGCACATGTGATGAGTGG -3'
(R):5'- AAGCAGGACCCATGTATAGCC -3'
Sequencing Primer
(F):5'- CACATGTGATGAGTGGTAGGTCCC -3'
(R):5'- TGTATAGCCATAGGGATCCATCC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation