Incidental Mutation 'R2475:Atic'
| ID |
253312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atic
|
| Ensembl Gene |
ENSMUSG00000026192 |
| Gene Name |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
| Synonyms |
2610509C24Rik |
| MMRRC Submission |
040406-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R2475 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
71596315-71618562 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 71598428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 64
(R64C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027384]
|
| AlphaFold |
Q9CWJ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027384
AA Change: R64C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027384
Gene: ENSMUSG00000026192
AA Change: R64C
| 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: ENSMUST00000155769
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187982
|
| Meta Mutation Damage Score |
0.9624 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (32/32) |
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
T |
A |
19: 20,617,442 (GRCm39) |
M458K |
probably benign |
Het |
| Atp7b |
C |
T |
8: 22,484,792 (GRCm39) |
V1307M |
possibly damaging |
Het |
| Bbx |
C |
A |
16: 50,040,882 (GRCm39) |
R707L |
probably damaging |
Het |
| Ccdc28b |
A |
T |
4: 129,514,445 (GRCm39) |
|
probably null |
Het |
| Gm21136 |
T |
A |
7: 38,567,258 (GRCm39) |
T57S |
probably damaging |
Het |
| Gm5862 |
G |
A |
5: 26,224,490 (GRCm39) |
L160F |
probably damaging |
Het |
| Gpsm3 |
A |
G |
17: 34,809,534 (GRCm39) |
T47A |
possibly damaging |
Het |
| Grip1 |
T |
C |
10: 119,814,401 (GRCm39) |
Y311H |
probably benign |
Het |
| Inpp4b |
T |
A |
8: 82,768,607 (GRCm39) |
N705K |
probably benign |
Het |
| Lingo1 |
T |
A |
9: 56,526,910 (GRCm39) |
I560F |
probably benign |
Het |
| Man2b2 |
A |
G |
5: 36,965,219 (GRCm39) |
V958A |
probably benign |
Het |
| Mavs |
G |
T |
2: 131,082,370 (GRCm39) |
A85S |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,364,490 (GRCm39) |
C1305S |
probably benign |
Het |
| Or14j9 |
A |
G |
17: 37,874,602 (GRCm39) |
V200A |
probably benign |
Het |
| Phf19 |
C |
T |
2: 34,785,807 (GRCm39) |
R554Q |
probably benign |
Het |
| Pramel24 |
T |
A |
4: 143,453,395 (GRCm39) |
Y168N |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Trpm8 |
A |
G |
1: 88,282,171 (GRCm39) |
D689G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,703,094 (GRCm39) |
|
probably benign |
Het |
| Wrnip1 |
G |
A |
13: 32,990,941 (GRCm39) |
R400H |
probably benign |
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 |
|
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 |
|
|
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'- GGACATTGTAAAGCCAGTGC -3'
(R):5'- ACTTATCCTGTAGTGAGGAGTCAG -3'
Sequencing Primer
(F):5'- ACATTTAGGAAATCCAACACAGTG -3'
(R):5'- TGAGGAGTCAGATTATAAAGGGATC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation