Incidental Mutation 'IGL02368:Atic'
ID |
290828 |
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 # |
IGL02368
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
71596315-71618562 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 71603724 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027384
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027384]
|
AlphaFold |
Q9CWJ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027384
|
SMART Domains |
Protein: ENSMUSP00000027384 Gene: ENSMUSG00000026192
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: ENSMUST00000136443
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148077
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154855
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155769
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187982
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930546C10Rik |
A |
G |
18: 69,083,060 (GRCm39) |
|
probably benign |
Het |
Abca17 |
C |
A |
17: 24,506,767 (GRCm39) |
V1196L |
probably benign |
Het |
Aldh4a1 |
G |
A |
4: 139,375,511 (GRCm39) |
W540* |
probably null |
Het |
Antxr2 |
G |
A |
5: 98,097,057 (GRCm39) |
P352L |
probably damaging |
Het |
Cfhr1 |
A |
G |
1: 139,475,551 (GRCm39) |
|
probably benign |
Het |
Clspn |
T |
C |
4: 126,459,900 (GRCm39) |
S207P |
probably benign |
Het |
Depdc1b |
A |
C |
13: 108,500,113 (GRCm39) |
T209P |
probably benign |
Het |
Exosc3 |
A |
G |
4: 45,319,671 (GRCm39) |
I117T |
probably damaging |
Het |
Eya2 |
T |
A |
2: 165,605,638 (GRCm39) |
D347E |
probably damaging |
Het |
Gm10748 |
G |
T |
3: 5,280,061 (GRCm39) |
|
probably benign |
Het |
Gm17079 |
T |
C |
14: 51,930,524 (GRCm39) |
N107S |
possibly damaging |
Het |
Gpr68 |
A |
G |
12: 100,845,026 (GRCm39) |
F173L |
probably damaging |
Het |
Hgf |
G |
T |
5: 16,769,792 (GRCm39) |
V89F |
possibly damaging |
Het |
Igsf10 |
A |
T |
3: 59,235,652 (GRCm39) |
S1510T |
probably benign |
Het |
Il4 |
A |
T |
11: 53,503,463 (GRCm39) |
N22K |
probably damaging |
Het |
Izumo2 |
T |
G |
7: 44,358,261 (GRCm39) |
L32R |
probably damaging |
Het |
Mark2 |
A |
G |
19: 7,261,855 (GRCm39) |
L359P |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,767,828 (GRCm39) |
K1376R |
probably benign |
Het |
Ncam1 |
G |
A |
9: 49,454,383 (GRCm39) |
R543* |
probably null |
Het |
Pax2 |
A |
G |
19: 44,823,848 (GRCm39) |
N347S |
possibly damaging |
Het |
Ppargc1a |
A |
G |
5: 51,631,498 (GRCm39) |
L377P |
probably benign |
Het |
Pum3 |
A |
G |
19: 27,403,357 (GRCm39) |
V48A |
probably benign |
Het |
Rad1 |
T |
C |
15: 10,493,337 (GRCm39) |
Y255H |
probably benign |
Het |
Rimbp2 |
C |
T |
5: 128,865,218 (GRCm39) |
|
probably null |
Het |
Rpn2 |
A |
G |
2: 157,144,328 (GRCm39) |
N330S |
probably benign |
Het |
Rptn |
A |
G |
3: 93,304,478 (GRCm39) |
S604G |
probably benign |
Het |
Rragc |
A |
G |
4: 123,814,904 (GRCm39) |
D200G |
probably benign |
Het |
Slco4a1 |
T |
G |
2: 180,114,921 (GRCm39) |
F615V |
probably damaging |
Het |
Snx2 |
T |
C |
18: 53,322,793 (GRCm39) |
S59P |
probably benign |
Het |
Timp4 |
A |
T |
6: 115,223,360 (GRCm39) |
|
probably null |
Het |
Tln2 |
A |
G |
9: 67,148,092 (GRCm39) |
|
probably benign |
Het |
Txnrd1 |
C |
A |
10: 82,731,808 (GRCm39) |
|
probably null |
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 |
|
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 |
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 |
2015-04-16 |