Incidental Mutation 'IGL03393:Allc'
| ID |
421142 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Allc
|
| Ensembl Gene |
ENSMUSG00000020636 |
| Gene Name |
allantoicase |
| Synonyms |
1700012B22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL03393
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
28603754-28632522 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28610010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 196
(R196C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020965]
[ENSMUST00000110917]
|
| AlphaFold |
Q9JHX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020965
AA Change: R196C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020965
Gene: ENSMUSG00000020636
AA Change: R196C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Allantoicase
|
28 |
201 |
3e-51 |
PFAM |
|
Pfam:Allantoicase
|
224 |
385 |
1.9e-39 |
PFAM |
|
low complexity region
|
392 |
403 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110917
AA Change: R196C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106542
Gene: ENSMUSG00000020636
AA Change: R196C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Allantoicase
|
28 |
201 |
3e-51 |
PFAM |
|
Pfam:Allantoicase
|
224 |
385 |
1.9e-39 |
PFAM |
|
low complexity region
|
392 |
403 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.[supplied by OMIM, Nov 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
G |
10: 86,909,902 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
G |
T |
16: 85,665,083 (GRCm39) |
S627Y |
probably damaging |
Het |
| Ccdc65 |
A |
C |
15: 98,618,568 (GRCm39) |
E241A |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,317,741 (GRCm39) |
|
probably benign |
Het |
| Fzd4 |
T |
C |
7: 89,056,505 (GRCm39) |
V184A |
probably benign |
Het |
| Gfap |
T |
A |
11: 102,784,083 (GRCm39) |
|
probably null |
Het |
| Gpr149 |
A |
G |
3: 62,511,366 (GRCm39) |
V211A |
probably benign |
Het |
| Gprc6a |
A |
G |
10: 51,491,355 (GRCm39) |
I623T |
probably damaging |
Het |
| Gucy2c |
T |
C |
6: 136,696,665 (GRCm39) |
T687A |
probably benign |
Het |
| Kcnc4 |
T |
G |
3: 107,355,243 (GRCm39) |
M402L |
possibly damaging |
Het |
| Ktn1 |
T |
C |
14: 47,928,391 (GRCm39) |
L584S |
probably damaging |
Het |
| Mrgprb2 |
C |
T |
7: 48,202,650 (GRCm39) |
S25N |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,417,875 (GRCm39) |
V3607E |
probably benign |
Het |
| Or4c58 |
C |
A |
2: 89,674,913 (GRCm39) |
V135L |
probably benign |
Het |
| Or6c3b |
T |
C |
10: 129,527,147 (GRCm39) |
I254M |
probably damaging |
Het |
| Otx2 |
A |
G |
14: 48,898,781 (GRCm39) |
I75T |
probably damaging |
Het |
| Pabpc4l |
T |
C |
3: 46,400,972 (GRCm39) |
D224G |
probably damaging |
Het |
| Peg3 |
A |
T |
7: 6,710,648 (GRCm39) |
C1525S |
probably damaging |
Het |
| Polq |
A |
T |
16: 36,865,156 (GRCm39) |
L669F |
probably damaging |
Het |
| Prss40 |
A |
C |
1: 34,597,182 (GRCm39) |
V122G |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,326,009 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
A |
T |
19: 41,860,232 (GRCm39) |
M997K |
possibly damaging |
Het |
| Sbno2 |
G |
A |
10: 79,902,735 (GRCm39) |
R414W |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,148,362 (GRCm39) |
D41G |
probably benign |
Het |
| Serpinb1c |
A |
T |
13: 33,066,044 (GRCm39) |
D300E |
probably damaging |
Het |
| Timeless |
G |
A |
10: 128,087,924 (GRCm39) |
D1165N |
probably damaging |
Het |
| Tnpo1 |
T |
G |
13: 99,024,981 (GRCm39) |
K66N |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,963,912 (GRCm39) |
N629K |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,179,989 (GRCm39) |
L255M |
probably damaging |
Het |
| Vmn1r10 |
T |
A |
6: 57,091,042 (GRCm39) |
Y211* |
probably null |
Het |
| Vmn2r76 |
T |
G |
7: 85,879,034 (GRCm39) |
N422T |
probably benign |
Het |
| Xylt1 |
C |
A |
7: 117,192,940 (GRCm39) |
N415K |
probably damaging |
Het |
| Zfp786 |
A |
T |
6: 47,798,458 (GRCm39) |
V160E |
possibly damaging |
Het |
|
| Other mutations in Allc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00719:Allc
|
APN |
12 |
28,614,248 (GRCm39) |
missense |
probably benign |
|
|
IGL02869:Allc
|
APN |
12 |
28,623,206 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0945:Allc
|
UTSW |
12 |
28,609,962 (GRCm39) |
missense |
probably benign |
|
|
R1609:Allc
|
UTSW |
12 |
28,603,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1997:Allc
|
UTSW |
12 |
28,613,482 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4322:Allc
|
UTSW |
12 |
28,604,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4837:Allc
|
UTSW |
12 |
28,609,308 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5207:Allc
|
UTSW |
12 |
28,605,325 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5469:Allc
|
UTSW |
12 |
28,605,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6727:Allc
|
UTSW |
12 |
28,607,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Allc
|
UTSW |
12 |
28,613,408 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7985:Allc
|
UTSW |
12 |
28,603,971 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8040:Allc
|
UTSW |
12 |
28,605,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8282:Allc
|
UTSW |
12 |
28,607,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8807:Allc
|
UTSW |
12 |
28,615,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9522:Allc
|
UTSW |
12 |
28,620,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9554:Allc
|
UTSW |
12 |
28,607,414 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation