Incidental Mutation 'IGL03291:Atic'
| ID |
415901 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atic
|
| Ensembl Gene |
ENSMUSG00000026192 |
| Gene Name |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
| Synonyms |
2610509C24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
IGL03291
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
71596315-71618562 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71610081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 364
(V364A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027384]
|
| AlphaFold |
Q9CWJ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027384
AA Change: V364A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000027384
Gene: ENSMUSG00000026192
AA Change: V364A
| 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
|
| Coding Region Coverage |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano1 |
T |
A |
7: 144,175,412 (GRCm39) |
E502V |
probably damaging |
Het |
| Cfap44 |
A |
T |
16: 44,227,674 (GRCm39) |
H125L |
possibly damaging |
Het |
| Ctnna2 |
T |
A |
6: 76,950,695 (GRCm39) |
E227V |
probably damaging |
Het |
| Ctsf |
A |
G |
19: 4,909,662 (GRCm39) |
I378V |
probably benign |
Het |
| Eya1 |
C |
T |
1: 14,254,572 (GRCm39) |
|
probably null |
Het |
| Fat2 |
C |
T |
11: 55,153,421 (GRCm39) |
R3597H |
probably benign |
Het |
| Gdpd5 |
T |
C |
7: 99,109,328 (GRCm39) |
|
probably benign |
Het |
| Glcci1 |
T |
A |
6: 8,579,678 (GRCm39) |
I293K |
probably damaging |
Het |
| Gm16503 |
T |
A |
4: 147,625,535 (GRCm39) |
Y10N |
unknown |
Het |
| Gm5930 |
A |
T |
14: 44,568,905 (GRCm39) |
I239N |
possibly damaging |
Het |
| Grm5 |
T |
C |
7: 87,780,004 (GRCm39) |
L1148P |
probably damaging |
Het |
| Kmt2e |
T |
A |
5: 23,704,289 (GRCm39) |
L1161I |
probably damaging |
Het |
| Megf9 |
C |
T |
4: 70,406,387 (GRCm39) |
V260I |
probably benign |
Het |
| Mme |
T |
A |
3: 63,253,525 (GRCm39) |
D456E |
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,221,950 (GRCm39) |
E61V |
probably damaging |
Het |
| Olfml1 |
A |
G |
7: 107,189,436 (GRCm39) |
D167G |
probably damaging |
Het |
| Or51ah3 |
T |
A |
7: 103,210,119 (GRCm39) |
M145K |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,154,379 (GRCm39) |
K2467E |
probably damaging |
Het |
| Plscr1 |
T |
A |
9: 92,148,923 (GRCm39) |
F254L |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,476,379 (GRCm39) |
K256N |
unknown |
Het |
| Rapgef4 |
A |
T |
2: 72,026,047 (GRCm39) |
L339F |
probably damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,406,670 (GRCm39) |
I118T |
probably benign |
Het |
| Smim7 |
A |
T |
8: 73,323,838 (GRCm39) |
F19L |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,056,150 (GRCm39) |
L428* |
probably null |
Het |
| Tcof1 |
T |
C |
18: 60,962,133 (GRCm39) |
T699A |
possibly damaging |
Het |
| Thsd7b |
T |
A |
1: 129,688,092 (GRCm39) |
S668T |
possibly damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,501,111 (GRCm39) |
D230G |
probably benign |
Het |
| Tyw1 |
A |
G |
5: 130,328,834 (GRCm39) |
D540G |
probably damaging |
Het |
| Zfp763 |
A |
G |
17: 33,238,860 (GRCm39) |
V95A |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation