Incidental Mutation 'R0039:Atic'
| ID |
64631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atic
|
| Ensembl Gene |
ENSMUSG00000026192 |
| Gene Name |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
| Synonyms |
2610509C24Rik |
| MMRRC Submission |
038333-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R0039 (G1)
|
| Quality Score |
84 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
71596315-71618562 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71617009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 523
(E523V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027384]
|
| AlphaFold |
Q9CWJ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027384
AA Change: E523V
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027384
Gene: ENSMUSG00000026192
AA Change: E523V
| Domain | Start | End | E-Value | Type |
|---|
|
MGS
|
16 |
130 |
1.31e-46 |
SMART |
|
AICARFT_IMPCHas
|
135 |
462 |
4.84e-132 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155769
|
| Meta Mutation Damage Score |
0.3387 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]
|
| Allele List at MGI |
All alleles(2) : Gene trapped(2) |
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Col18a1 |
T |
G |
10: 76,913,002 (GRCm39) |
K744N |
probably damaging |
Het |
| Degs2 |
A |
T |
12: 108,656,848 (GRCm39) |
Y283N |
probably damaging |
Het |
| Eif3m |
A |
T |
2: 104,836,217 (GRCm39) |
V209E |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,356,831 (GRCm39) |
V300A |
probably damaging |
Het |
| Gnaz |
A |
G |
10: 74,850,866 (GRCm39) |
Y297C |
probably damaging |
Het |
| Lmtk2 |
G |
T |
5: 144,103,205 (GRCm39) |
L321F |
probably damaging |
Het |
| Map3k10 |
A |
G |
7: 27,357,523 (GRCm39) |
S752P |
possibly damaging |
Het |
| Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
| Mroh8 |
T |
C |
2: 157,071,849 (GRCm39) |
H552R |
possibly damaging |
Het |
| Rhbdl2 |
T |
A |
4: 123,703,822 (GRCm39) |
N32K |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 38,083,613 (GRCm39) |
T92M |
probably damaging |
Het |
| Specc1 |
A |
T |
11: 61,920,195 (GRCm39) |
M32L |
probably damaging |
Het |
| Stk31 |
T |
C |
6: 49,419,192 (GRCm39) |
W700R |
probably damaging |
Het |
|
| Other mutations in Atic |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01947:Atic
|
APN |
1 |
71,609,996 (GRCm39) |
splice site |
probably benign |
|
|
IGL02368:Atic
|
APN |
1 |
71,603,724 (GRCm39) |
splice site |
probably benign |
|
|
IGL03291:Atic
|
APN |
1 |
71,610,081 (GRCm39) |
missense |
probably benign |
0.06 |
|
3-1:Atic
|
UTSW |
1 |
71,600,054 (GRCm39) |
nonsense |
probably null |
|
|
R0039:Atic
|
UTSW |
1 |
71,617,009 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0558:Atic
|
UTSW |
1 |
71,602,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1222:Atic
|
UTSW |
1 |
71,598,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1662:Atic
|
UTSW |
1 |
71,615,286 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2075:Atic
|
UTSW |
1 |
71,615,286 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2402:Atic
|
UTSW |
1 |
71,608,216 (GRCm39) |
nonsense |
probably null |
|
|
R2475:Atic
|
UTSW |
1 |
71,598,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2566:Atic
|
UTSW |
1 |
71,608,130 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3711:Atic
|
UTSW |
1 |
71,617,738 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5115:Atic
|
UTSW |
1 |
71,596,434 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5215:Atic
|
UTSW |
1 |
71,603,666 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5444:Atic
|
UTSW |
1 |
71,615,876 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6348:Atic
|
UTSW |
1 |
71,615,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6370:Atic
|
UTSW |
1 |
71,617,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6374:Atic
|
UTSW |
1 |
71,604,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6909:Atic
|
UTSW |
1 |
71,616,005 (GRCm39) |
splice site |
probably null |
|
|
R7224:Atic
|
UTSW |
1 |
71,610,014 (GRCm39) |
missense |
probably benign |
|
|
R7444:Atic
|
UTSW |
1 |
71,602,946 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7724:Atic
|
UTSW |
1 |
71,604,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Atic
|
UTSW |
1 |
71,609,032 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9167:Atic
|
UTSW |
1 |
71,604,040 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9204:Atic
|
UTSW |
1 |
71,603,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGCGGCTGACTTTATACCTG -3'
(R):5'- ACCGACATAGCTTTCCGATGCGAC -3'
Sequencing Primer
(F):5'- CGGCTGACTTTATACCTGAAACAG -3'
(R):5'- TTCCGATGCGACTCTAGGAAG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation