Incidental Mutation 'R7224:Atic'
ID 561994
Institutional Source Beutler Lab
Gene Symbol Atic
Ensembl Gene ENSMUSG00000026192
Gene Name 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Synonyms 2610509C24Rik
MMRRC Submission 045296-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R7224 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 71596315-71618562 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71610014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 342 (V342I)
Ref Sequence ENSEMBL: ENSMUSP00000027384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027384]
AlphaFold Q9CWJ9
Predicted Effect probably benign
Transcript: ENSMUST00000027384
AA Change: V342I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027384
Gene: ENSMUSG00000026192
AA Change: V342I

DomainStartEndE-ValueType
MGS 16 130 1.31e-46 SMART
AICARFT_IMPCHas 135 462 4.84e-132 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 99% (79/80)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac C T 3: 59,943,275 (GRCm39) T60M probably benign Het
Actn4 C T 7: 28,661,509 (GRCm39) A34T probably benign Het
Acvrl1 A G 15: 101,041,245 (GRCm39) M466V probably benign Het
Adamts7 T C 9: 90,067,868 (GRCm39) Y453H probably damaging Het
Amfr G A 8: 94,711,484 (GRCm39) P351S probably damaging Het
Ankrd26 G A 6: 118,516,688 (GRCm39) T492M probably benign Het
Anxa6 A G 11: 54,876,993 (GRCm39) F547L probably damaging Het
Ap5m1 T G 14: 49,318,384 (GRCm39) Y394D unknown Het
Atl1 C A 12: 70,002,127 (GRCm39) T362N probably benign Het
Atp10a A T 7: 58,447,219 (GRCm39) M654L probably benign Het
B3gnt5 A T 16: 19,588,503 (GRCm39) M241L probably benign Het
Bbs7 A G 3: 36,659,877 (GRCm39) V186A possibly damaging Het
Brme1 A G 8: 84,898,842 (GRCm39) T577A probably benign Het
C8b T C 4: 104,637,795 (GRCm39) L89P probably damaging Het
Capn7 G T 14: 31,092,678 (GRCm39) E742* probably null Het
Ccdc162 G A 10: 41,437,187 (GRCm39) R1741C probably damaging Het
Cdhr17 T C 5: 17,041,592 (GRCm39) V615A possibly damaging Het
Chsy3 T A 18: 59,542,047 (GRCm39) L395H probably damaging Het
Cnot9 A G 1: 74,556,388 (GRCm39) T62A probably benign Het
Cyfip1 AGTGT AGT 7: 55,577,937 (GRCm39) probably null Het
Cyp2d12 T A 15: 82,441,849 (GRCm39) probably null Het
Dnah7a A G 1: 53,436,420 (GRCm39) V3974A probably benign Het
Dync1h1 G A 12: 110,584,196 (GRCm39) G533D possibly damaging Het
Eddm13 T G 7: 6,271,801 (GRCm39) M77R probably benign Het
Elfn1 A G 5: 139,958,228 (GRCm39) S411G probably benign Het
Enpp3 T C 10: 24,652,782 (GRCm39) D725G possibly damaging Het
Fmnl1 T C 11: 103,073,595 (GRCm39) probably null Het
Fndc8 T C 11: 82,783,151 (GRCm39) M44T probably benign Het
Gcgr A T 11: 120,425,538 (GRCm39) probably benign Het
Ggt1 T A 10: 75,410,110 (GRCm39) V14D possibly damaging Het
Gigyf2 A G 1: 87,331,447 (GRCm39) I198M unknown Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gm6034 T A 17: 36,367,331 (GRCm39) S59T unknown Het
Gm6408 G A 5: 146,421,180 (GRCm39) V270I probably benign Het
Gpr20 A T 15: 73,567,981 (GRCm39) I136N probably damaging Het
Ide T C 19: 37,268,160 (GRCm39) E565G Het
Igsf9 T C 1: 172,322,349 (GRCm39) S515P probably damaging Het
Kbtbd12 G A 6: 88,590,965 (GRCm39) R416* probably null Het
Kcnd3 A T 3: 105,576,400 (GRCm39) I615F probably damaging Het
Kcnk7 A T 19: 5,756,805 (GRCm39) M265L probably benign Het
Klhdc1 G A 12: 69,309,923 (GRCm39) S275N probably damaging Het
Ldc1 C G 4: 130,112,992 (GRCm39) A135P probably damaging Het
Lrba A C 3: 86,302,553 (GRCm39) N1871T probably damaging Het
Lrrk1 A G 7: 65,982,134 (GRCm39) V169A probably damaging Het
Magi1 A G 6: 93,660,070 (GRCm39) I1175T probably benign Het
Man1a2 T C 3: 100,489,369 (GRCm39) T537A possibly damaging Het
Mrpl17 T C 7: 105,459,209 (GRCm39) N129S probably damaging Het
Mup5 G A 4: 61,750,622 (GRCm39) R174C probably damaging Het
Ndufaf1 G A 2: 119,488,877 (GRCm39) R216C probably damaging Het
Neb T C 2: 52,224,671 (GRCm39) probably null Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or52m2 A T 7: 102,263,974 (GRCm39) M74K probably damaging Het
Or5a1 T C 19: 12,097,912 (GRCm39) T55A probably benign Het
Or8b12b G A 9: 37,684,711 (GRCm39) G252D possibly damaging Het
Osbpl8 C T 10: 111,110,872 (GRCm39) P458L possibly damaging Het
Pcdh20 T C 14: 88,706,511 (GRCm39) E263G possibly damaging Het
Pkd1l1 A G 11: 8,895,241 (GRCm39) L623P Het
Plxdc1 T C 11: 97,823,153 (GRCm39) T363A possibly damaging Het
Pole3 T C 4: 62,442,287 (GRCm39) D111G unknown Het
R3hdm2 T A 10: 127,294,022 (GRCm39) L172Q probably damaging Het
Rbm33 T C 5: 28,599,322 (GRCm39) V90A Het
Rcbtb1 C G 14: 59,465,828 (GRCm39) I390M probably damaging Het
Romo1 G A 2: 155,986,295 (GRCm39) probably benign Het
Sars1 A G 3: 108,335,519 (GRCm39) Y410H probably damaging Het
Sesn2 T C 4: 132,224,724 (GRCm39) T327A probably benign Het
Slc30a5 A G 13: 100,945,762 (GRCm39) V530A probably damaging Het
Slc30a9 G A 5: 67,473,044 (GRCm39) E43K probably benign Het
Slc38a2 A C 15: 96,589,240 (GRCm39) L418W probably damaging Het
Snx14 T C 9: 88,276,614 (GRCm39) E557G possibly damaging Het
Spata33 T A 8: 123,948,737 (GRCm39) I123K probably damaging Het
Tdrd3 A T 14: 87,714,839 (GRCm39) H170L probably damaging Het
Trpm1 A G 7: 63,868,854 (GRCm39) probably null Het
Tsr3 A T 17: 25,461,569 (GRCm39) E302D probably benign Het
Ttll11 A G 2: 35,792,685 (GRCm39) I386T probably damaging Het
Usp2 C T 9: 43,987,266 (GRCm39) T188M possibly damaging Het
Usp44 A G 10: 93,681,855 (GRCm39) I102V probably benign Het
Wasf1 A G 10: 40,802,546 (GRCm39) N67S probably benign Het
Zfp445 T C 9: 122,681,208 (GRCm39) N911S probably benign Het
Zfp467 A G 6: 48,421,903 (GRCm39) probably null Het
Other mutations in Atic
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GGCTTGCAAAATAGTCAGCCC -3'
(R):5'- CGGCCAATGCAATGGTAAAC -3'

Sequencing Primer
(F):5'- GGCTTGCAAAATAGTCAGCCCTAAAG -3'
(R):5'- TCTGAAGACAGCTACAGTGTGCTC -3'
Posted On 2019-06-26