Incidental Mutation 'R2566:Atic'
ID 254430
Institutional Source Beutler Lab
Gene Symbol Atic
Ensembl Gene ENSMUSG00000026192
Gene Name 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Synonyms 2610509C24Rik
MMRRC Submission 040425-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R2566 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 71596315-71618562 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 71608130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 275 (V275F)
Ref Sequence ENSEMBL: ENSMUSP00000027384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027384]
AlphaFold Q9CWJ9
Predicted Effect probably damaging
Transcript: ENSMUST00000027384
AA Change: V275F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027384
Gene: ENSMUSG00000026192
AA Change: V275F

DomainStartEndE-ValueType
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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,055,701 (GRCm39) K408E probably damaging Het
2010315B03Rik T A 9: 124,055,783 (GRCm39) K380N probably damaging Het
9230104M06Rik C T 12: 112,964,359 (GRCm39) probably benign Het
Ahi1 T A 10: 20,846,810 (GRCm39) C413* probably null Het
Alms1 T A 6: 85,599,464 (GRCm39) M1430K possibly damaging Het
Ankrd52 G T 10: 128,225,220 (GRCm39) A894S probably benign Het
Arhgap33 C A 7: 30,226,654 (GRCm39) V494L probably damaging Het
Atoh1 T A 6: 64,706,668 (GRCm39) V121E probably damaging Het
Atp5pd T A 11: 115,306,864 (GRCm39) probably null Het
Baiap2l2 A T 15: 79,146,174 (GRCm39) probably null Het
Brca2 A T 5: 150,465,227 (GRCm39) T1664S probably benign Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Celf3 ACAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCA 3: 94,395,537 (GRCm39) probably benign Het
Cep350 A T 1: 155,835,464 (GRCm39) probably null Het
Ces2g T C 8: 105,692,621 (GRCm39) probably null Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp2d34 A G 15: 82,500,368 (GRCm39) F457S probably damaging Het
Disp3 T A 4: 148,325,880 (GRCm39) T1293S probably damaging Het
Dock10 T A 1: 80,517,970 (GRCm39) I1348F possibly damaging Het
Dsp A T 13: 38,380,380 (GRCm39) H1776L probably damaging Het
Efhd1 A T 1: 87,237,477 (GRCm39) Q228L possibly damaging Het
Entpd2 T A 2: 25,289,295 (GRCm39) I259N probably benign Het
Fam149b A T 14: 20,425,578 (GRCm39) M138L probably damaging Het
Fastkd5 T C 2: 130,458,285 (GRCm39) K102E probably benign Het
Fzd7 C A 1: 59,523,695 (GRCm39) T526K possibly damaging Het
G6pd2 T A 5: 61,966,330 (GRCm39) I35N probably damaging Het
Gars1 T A 6: 55,042,548 (GRCm39) M427K probably damaging Het
Gimap4 C T 6: 48,667,799 (GRCm39) R57C probably damaging Het
Gm11232 C A 4: 71,676,022 (GRCm39) W41L probably benign Het
Gm15737 T A 6: 92,856,701 (GRCm39) C43* probably null Het
Gpr180 T C 14: 118,377,185 (GRCm39) V62A probably benign Het
H2-M11 C T 17: 36,859,042 (GRCm39) T194I possibly damaging Het
Jakmip3 A T 7: 138,591,197 (GRCm39) E27V possibly damaging Het
Kcnq3 T C 15: 65,903,276 (GRCm39) T145A probably damaging Het
Krt8 A G 15: 101,906,459 (GRCm39) M350T probably benign Het
Krtap4-9 T A 11: 99,676,492 (GRCm39) probably benign Het
Lbr G T 1: 181,663,692 (GRCm39) D109E probably damaging Het
Ldc1 A T 4: 130,103,681 (GRCm39) L420Q probably benign Het
Med23 A G 10: 24,764,473 (GRCm39) H42R probably damaging Het
Mgat5 A T 1: 127,234,741 (GRCm39) M77L probably benign Het
Mlf1 A T 3: 67,291,919 (GRCm39) N28I possibly damaging Het
Mroh3 A C 1: 136,125,864 (GRCm39) L343R probably damaging Het
Mrpl37 T A 4: 106,921,690 (GRCm39) I180F possibly damaging Het
Mrps27 T A 13: 99,536,836 (GRCm39) C116* probably null Het
Muc6 A G 7: 141,226,651 (GRCm39) S1354P possibly damaging Het
Myh7 A T 14: 55,220,699 (GRCm39) D1033E probably damaging Het
Myo16 A T 8: 10,644,820 (GRCm39) E1717D probably benign Het
Myo1g T A 11: 6,462,539 (GRCm39) probably null Het
Or51ag1 A G 7: 103,155,367 (GRCm39) M262T probably benign Het
Or6c217 A C 10: 129,737,964 (GRCm39) L205R probably damaging Het
Pan2 T C 10: 128,149,766 (GRCm39) L576P probably damaging Het
Parp8 A G 13: 117,032,223 (GRCm39) S278P possibly damaging Het
Pdk2 A G 11: 94,918,028 (GRCm39) probably null Het
Phf1 T C 17: 27,156,062 (GRCm39) S450P probably damaging Het
Pkd1l2 T C 8: 117,746,233 (GRCm39) Y1919C probably damaging Het
Postn T A 3: 54,284,374 (GRCm39) S614T probably damaging Het
Psmg1 A T 16: 95,783,395 (GRCm39) Y213* probably null Het
Rab11b T A 17: 33,966,692 (GRCm39) T203S probably benign Het
Rad54l2 T A 9: 106,580,825 (GRCm39) T899S possibly damaging Het
Ramp2 TTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTG 11: 101,137,371 (GRCm39) probably benign Het
Rapgef6 A G 11: 54,578,537 (GRCm39) T1028A possibly damaging Het
Rbm6 A G 9: 107,669,197 (GRCm39) S58P possibly damaging Het
Rreb1 G T 13: 38,113,768 (GRCm39) A376S possibly damaging Het
Rsbn1l T A 5: 21,124,767 (GRCm39) N345I probably benign Het
Sf3b2 A T 19: 5,325,118 (GRCm39) S785T possibly damaging Het
Sh2b1 C T 7: 126,068,098 (GRCm39) D519N probably damaging Het
Slitrk6 T C 14: 110,987,704 (GRCm39) T668A probably benign Het
Stkld1 T A 2: 26,840,650 (GRCm39) I444N probably damaging Het
Sucla2 A T 14: 73,790,244 (GRCm39) probably benign Het
Tmem67 T A 4: 12,079,918 (GRCm39) L190F probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trem2 G A 17: 48,658,863 (GRCm39) W191* probably null Het
Ube2d4 A T 15: 58,718,528 (GRCm39) noncoding transcript Het
Uimc1 G T 13: 55,223,617 (GRCm39) D218E probably damaging Het
Wdr62 A T 7: 29,973,424 (GRCm39) V95E probably damaging Het
Zfhx4 T C 3: 5,310,203 (GRCm39) V862A probably damaging Het
Zfp462 T A 4: 55,008,522 (GRCm39) S163T probably benign Het
Zfp704 T C 3: 9,674,553 (GRCm39) D76G unknown 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
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'- AGTCTGCATGTTTTACCACTGC -3'
(R):5'- TCATGAACTAGTCTCTGCTGGTC -3'

Sequencing Primer
(F):5'- GGTGTGAATATTGAAAAGTAGCAATC -3'
(R):5'- GAACTAGTCTCTGCTGGTCATTATAC -3'
Posted On 2014-12-04