Incidental Mutation 'R1609:Allc'
| ID |
176687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Allc
|
| Ensembl Gene |
ENSMUSG00000020636 |
| Gene Name |
allantoicase |
| Synonyms |
1700012B22Rik |
| MMRRC Submission |
039646-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R1609 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
28603754-28632522 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28603993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 363
(D363E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020963]
[ENSMUST00000020965]
[ENSMUST00000110917]
[ENSMUST00000221349]
|
| AlphaFold |
Q9JHX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020963
|
| SMART Domains |
Protein: ENSMUSP00000020963
Gene: ENSMUSG00000020633
| Domain | Start | End | E-Value | Type |
|---|
|
DCX
|
11 |
98 |
2.16e-29 |
SMART |
|
DCX
|
131 |
217 |
6.18e-7 |
SMART |
|
low complexity region
|
302 |
316 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020965
AA Change: D363E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020965
Gene: ENSMUSG00000020636
AA Change: D363E
| 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: D363E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106542
Gene: ENSMUSG00000020636
AA Change: D363E
| 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 benign
Transcript: ENSMUST00000185916
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221349
|
| Meta Mutation Damage Score |
0.1940 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.1%
|
| Validation Efficiency |
96% (49/51) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot2 |
C |
T |
12: 84,039,630 (GRCm39) |
R380C |
possibly damaging |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| App |
C |
A |
16: 84,876,837 (GRCm39) |
V185L |
probably damaging |
Het |
| Atp5if1 |
T |
C |
4: 132,258,078 (GRCm39) |
D47G |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Cbr4 |
T |
A |
8: 61,956,192 (GRCm39) |
Y220N |
probably damaging |
Het |
| Ccdc6 |
C |
A |
10: 70,002,877 (GRCm39) |
Q203K |
probably damaging |
Het |
| Cntnap2 |
T |
C |
6: 45,992,264 (GRCm39) |
V397A |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,316,547 (GRCm39) |
I1613T |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,577,742 (GRCm39) |
S3020P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,392,126 (GRCm39) |
L3829P |
probably damaging |
Het |
| Fbxw25 |
C |
T |
9: 109,492,578 (GRCm39) |
C53Y |
probably benign |
Het |
| Fndc1 |
G |
T |
17: 7,991,598 (GRCm39) |
H699Q |
unknown |
Het |
| Gnaq |
G |
A |
19: 16,360,618 (GRCm39) |
V314M |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,788,104 (GRCm39) |
T582A |
possibly damaging |
Het |
| Mapk1 |
T |
C |
16: 16,856,170 (GRCm39) |
|
probably benign |
Het |
| Med1 |
T |
A |
11: 98,051,996 (GRCm39) |
H456L |
possibly damaging |
Het |
| Myo6 |
G |
A |
9: 80,195,499 (GRCm39) |
|
probably null |
Het |
| Nipbl |
A |
G |
15: 8,396,148 (GRCm39) |
Y142H |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,688 (GRCm39) |
F27L |
probably benign |
Het |
| Or8k24 |
A |
G |
2: 86,215,838 (GRCm39) |
I308T |
probably benign |
Het |
| Or8k33 |
A |
C |
2: 86,383,949 (GRCm39) |
V173G |
probably damaging |
Het |
| Pgbd5 |
T |
C |
8: 125,160,750 (GRCm39) |
D39G |
probably benign |
Het |
| Pnisr |
G |
T |
4: 21,871,440 (GRCm39) |
G387* |
probably null |
Het |
| Pnpla6 |
T |
C |
8: 3,567,135 (GRCm39) |
L61P |
probably damaging |
Het |
| Prkra |
A |
T |
2: 76,463,936 (GRCm39) |
I242N |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,419,424 (GRCm39) |
S563P |
probably damaging |
Het |
| Rtp3 |
A |
G |
9: 110,815,085 (GRCm39) |
|
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,591,023 (GRCm39) |
T301A |
probably damaging |
Het |
| Setmar |
A |
G |
6: 108,053,076 (GRCm39) |
D190G |
probably benign |
Het |
| Sf3b2 |
A |
G |
19: 5,345,061 (GRCm39) |
|
probably benign |
Het |
| Taf4b |
A |
G |
18: 14,968,938 (GRCm39) |
K692E |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,504 (GRCm39) |
E354G |
probably benign |
Het |
| Tspan4 |
A |
G |
7: 141,071,557 (GRCm39) |
T135A |
probably damaging |
Het |
| Vmn1r22 |
G |
T |
6: 57,877,733 (GRCm39) |
Y81* |
probably null |
Het |
| Vmn2r31 |
T |
C |
7: 7,387,888 (GRCm39) |
E561G |
probably damaging |
Het |
| Xrn1 |
A |
T |
9: 95,856,946 (GRCm39) |
K389N |
probably benign |
Het |
| Zfp277 |
A |
T |
12: 40,378,719 (GRCm39) |
N379K |
probably 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 |
|
IGL03393:Allc
|
APN |
12 |
28,610,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0945:Allc
|
UTSW |
12 |
28,609,962 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGATCAAGACCAGTTTGTGGGGTG -3'
(R):5'- CACACATGCCATTGTCATGCGG -3'
Sequencing Primer
(F):5'- CGTTTTATTGGAACCACCAGG -3'
(R):5'- CACTAGCCGATTTCTGTTAGAGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation