Incidental Mutation 'IGL01947:Atic'
| ID |
181282 |
| 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 # |
IGL01947
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
71596315-71618562 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 71609996 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: 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,216,428 (GRCm39) |
|
probably null |
Het |
| Aloxe3 |
T |
A |
11: 69,033,847 (GRCm39) |
|
probably benign |
Het |
| Avpr1a |
T |
C |
10: 122,288,087 (GRCm39) |
V365A |
probably benign |
Het |
| Brd7 |
A |
G |
8: 89,059,503 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,845,579 (GRCm39) |
N332D |
probably damaging |
Het |
| Cdh20 |
C |
T |
1: 104,921,649 (GRCm39) |
P649S |
possibly damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,632,326 (GRCm39) |
T342A |
probably damaging |
Het |
| Chst10 |
A |
G |
1: 38,904,646 (GRCm39) |
L349P |
probably damaging |
Het |
| Cox6b2 |
T |
A |
7: 4,754,929 (GRCm39) |
K77* |
probably null |
Het |
| Crnkl1 |
G |
A |
2: 145,763,744 (GRCm39) |
A498V |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,303,979 (GRCm39) |
L1394P |
probably benign |
Het |
| Dapp1 |
T |
C |
3: 137,641,404 (GRCm39) |
Y197C |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,959,280 (GRCm39) |
I164T |
probably benign |
Het |
| Disp3 |
T |
A |
4: 148,344,976 (GRCm39) |
I472F |
probably damaging |
Het |
| Gm10392 |
A |
T |
11: 77,408,306 (GRCm39) |
D104E |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gpd1 |
A |
G |
15: 99,618,112 (GRCm39) |
I143V |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,608,643 (GRCm39) |
N1513I |
possibly damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,680,159 (GRCm39) |
I733V |
probably benign |
Het |
| Klhl12 |
T |
A |
1: 134,391,689 (GRCm39) |
L107H |
probably damaging |
Het |
| Lcn8 |
A |
G |
2: 25,545,157 (GRCm39) |
D109G |
probably damaging |
Het |
| Maz |
A |
T |
7: 126,623,614 (GRCm39) |
|
probably null |
Het |
| Mttp |
T |
A |
3: 137,812,890 (GRCm39) |
D595V |
probably damaging |
Het |
| Mymk |
A |
C |
2: 26,956,406 (GRCm39) |
L58R |
possibly damaging |
Het |
| Nckap1 |
A |
C |
2: 80,339,097 (GRCm39) |
I977S |
probably damaging |
Het |
| Nckap1l |
A |
T |
15: 103,399,442 (GRCm39) |
I1021F |
probably benign |
Het |
| Or12d2 |
A |
T |
17: 37,624,556 (GRCm39) |
C240S |
probably damaging |
Het |
| Or4f14b |
A |
T |
2: 111,775,339 (GRCm39) |
M154K |
probably benign |
Het |
| Or4f6 |
A |
T |
2: 111,839,361 (GRCm39) |
S57T |
possibly damaging |
Het |
| Or6c38 |
G |
A |
10: 128,929,747 (GRCm39) |
T32I |
possibly damaging |
Het |
| Pde5a |
T |
A |
3: 122,629,259 (GRCm39) |
F644L |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,592,440 (GRCm39) |
I68T |
probably damaging |
Het |
| Pik3r4 |
T |
A |
9: 105,563,349 (GRCm39) |
V1242D |
possibly damaging |
Het |
| Ppp6r2 |
G |
T |
15: 89,162,929 (GRCm39) |
W517L |
probably damaging |
Het |
| Scrib |
A |
T |
15: 75,933,616 (GRCm39) |
I703K |
probably benign |
Het |
| Serpina1b |
T |
C |
12: 103,695,576 (GRCm39) |
S322G |
probably benign |
Het |
| Siglecg |
C |
A |
7: 43,058,187 (GRCm39) |
Q25K |
probably benign |
Het |
| Slc12a3 |
G |
A |
8: 95,092,447 (GRCm39) |
|
probably null |
Het |
| Slc6a13 |
G |
T |
6: 121,302,116 (GRCm39) |
|
probably null |
Het |
| Stard13 |
A |
T |
5: 150,986,309 (GRCm39) |
D282E |
probably damaging |
Het |
| Tpte |
A |
T |
8: 22,845,489 (GRCm39) |
Y513F |
possibly damaging |
Het |
| Ubox5 |
T |
A |
2: 130,442,579 (GRCm39) |
K36I |
possibly damaging |
Het |
|
| Other mutations in Atic |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation