Incidental Mutation 'R5215:Atic'
ID 403385
Institutional Source Beutler Lab
Gene Symbol Atic
Ensembl Gene ENSMUSG00000026192
Gene Name 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Synonyms 2610509C24Rik
MMRRC Submission 042788-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R5215 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 71596315-71618562 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71603666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 161 (S161P)
Ref Sequence ENSEMBL: ENSMUSP00000027384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027384]
AlphaFold Q9CWJ9
Predicted Effect probably damaging
Transcript: ENSMUST00000027384
AA Change: S161P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027384
Gene: ENSMUSG00000026192
AA Change: S161P

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.3846 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (79/79)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alas1 C A 9: 106,120,574 (GRCm39) A73S probably benign Het
Aldoart2 G A 12: 55,612,204 (GRCm39) R43Q probably benign Het
Ano4 T C 10: 89,153,165 (GRCm39) H49R possibly damaging Het
Atp6v1c2 T C 12: 17,341,659 (GRCm39) E244G probably benign Het
Cd164l2 C A 4: 132,948,789 (GRCm39) L42I unknown Het
Cdc42ep2 T C 19: 5,968,238 (GRCm39) R156G probably benign Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdk5 T A 5: 24,624,459 (GRCm39) N265I probably benign Het
Cfap69 G T 5: 5,639,133 (GRCm39) N262K possibly damaging Het
Chd6 C T 2: 160,791,873 (GRCm39) V2495M probably damaging Het
Cps1 T A 1: 67,205,539 (GRCm39) F521I possibly damaging Het
Crb2 A G 2: 37,683,765 (GRCm39) E1089G probably benign Het
Decr1 T C 4: 15,929,795 (GRCm39) D166G probably damaging Het
Dhodh G A 8: 110,332,975 (GRCm39) probably benign Het
Dnaaf5 G A 5: 139,147,632 (GRCm39) V399I probably benign Het
Dnah11 T C 12: 118,121,096 (GRCm39) T526A probably benign Het
Drosha T C 15: 12,885,219 (GRCm39) probably benign Het
Elfn2 T A 15: 78,558,401 (GRCm39) I49F probably damaging Het
Gabra1 T C 11: 42,045,655 (GRCm39) T152A probably damaging Het
Gigyf2 C A 1: 87,292,988 (GRCm39) T85K probably damaging Het
Gimap8 A T 6: 48,628,017 (GRCm39) Y258F possibly damaging Het
Glmn A G 5: 107,709,752 (GRCm39) C351R probably benign Het
Gm10032 T C 14: 67,029,998 (GRCm39) noncoding transcript Het
Gorasp2 G A 2: 70,519,598 (GRCm39) A328T probably benign Het
Grin1 A T 2: 25,193,919 (GRCm39) H392Q probably benign Het
Gzmn A G 14: 56,405,319 (GRCm39) V55A probably damaging Het
Herc4 T A 10: 63,124,876 (GRCm39) S497T probably benign Het
Hrc A T 7: 44,985,515 (GRCm39) D222V probably damaging Het
Iars2 T C 1: 185,026,966 (GRCm39) H761R probably damaging Het
Jmjd1c T A 10: 67,076,480 (GRCm39) D2101E possibly damaging Het
Kcng1 C T 2: 168,105,053 (GRCm39) M264I probably benign Het
Klra14-ps C A 6: 130,134,646 (GRCm39) noncoding transcript Het
Krtap5-3 T A 7: 141,755,974 (GRCm39) C270* probably null Het
Lama3 A G 18: 12,710,957 (GRCm39) H3164R probably damaging Het
Lcor T C 19: 41,574,371 (GRCm39) I1042T probably damaging Het
Mdn1 T C 4: 32,741,418 (GRCm39) M3840T possibly damaging Het
Mtor A T 4: 148,538,440 (GRCm39) H166L probably benign Het
Mx1 T C 16: 97,249,560 (GRCm39) N556D possibly damaging Het
Oca2 A T 7: 55,945,246 (GRCm39) R285* probably null Het
Or12d13 T A 17: 37,647,704 (GRCm39) I140F probably benign Het
Or2at1 A G 7: 99,416,717 (GRCm39) E116G probably damaging Het
Or4k39 T C 2: 111,239,631 (GRCm39) noncoding transcript Het
Or56a3b G A 7: 104,775,771 (GRCm39) H246Y probably damaging Het
Or8g33 A T 9: 39,337,919 (GRCm39) Y149* probably null Het
Pan3 A G 5: 147,391,915 (GRCm39) probably null Het
Pard3 G A 8: 128,104,745 (GRCm39) V496M probably damaging Het
Pdcd2l A T 7: 33,892,314 (GRCm39) V185D possibly damaging Het
Pgghg T C 7: 140,526,477 (GRCm39) V623A possibly damaging Het
Pigu C A 2: 155,177,249 (GRCm39) probably benign Het
Pkmyt1 G A 17: 23,951,566 (GRCm39) R40Q probably benign Het
Prag1 G A 8: 36,567,043 (GRCm39) A65T probably benign Het
Prkdc C A 16: 15,589,985 (GRCm39) T2616N possibly damaging Het
Prpf8 G A 11: 75,391,030 (GRCm39) E1360K probably benign Het
Ptprt C T 2: 162,120,084 (GRCm39) V128M probably damaging Het
Rp1l1 C T 14: 64,267,462 (GRCm39) S1016L probably benign Het
Rprd1a G T 18: 24,621,257 (GRCm39) D307E probably damaging Het
Slc11a1 A T 1: 74,422,936 (GRCm39) probably benign Het
Slc22a16 T A 10: 40,457,386 (GRCm39) M209K probably damaging Het
Slf2 T G 19: 44,936,476 (GRCm39) L707R probably damaging Het
Son T A 16: 91,453,563 (GRCm39) M770K probably damaging Het
Taf6l T C 19: 8,755,417 (GRCm39) probably benign Het
Tbc1d2 C A 4: 46,614,006 (GRCm39) V692L probably benign Het
Tnpo3 C T 6: 29,582,152 (GRCm39) probably benign Het
Txndc16 A T 14: 45,448,597 (GRCm39) probably benign Het
Ubr1 T C 2: 120,734,525 (GRCm39) K1125R probably benign Het
Vmn2r9 A G 5: 108,994,351 (GRCm39) S433P probably benign Het
Zc3h12a A G 4: 125,020,706 (GRCm39) S46P probably benign Het
Zwilch T G 9: 64,054,156 (GRCm39) I490L probably benign 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
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'- CAAGGGGAATTCCGATGAGC -3'
(R):5'- TTTAGGTACAGCCTCAGCCG -3'

Sequencing Primer
(F):5'- AAGGGGAATTCCGATGAGCTATTTTC -3'
(R):5'- CTCTGTGTTCAATGAAAGGACAG -3'
Posted On 2016-07-22