Incidental Mutation 'R0945:Allc'
ID 82071
Institutional Source Beutler Lab
Gene Symbol Allc
Ensembl Gene ENSMUSG00000020636
Gene Name allantoicase
Synonyms 1700012B22Rik
MMRRC Submission 039084-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R0945 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 28603754-28632522 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28609962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 212 (S212P)
Ref Sequence ENSEMBL: ENSMUSP00000106542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020965] [ENSMUST00000110917]
AlphaFold Q9JHX6
Predicted Effect probably benign
Transcript: ENSMUST00000020965
AA Change: S212P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020965
Gene: ENSMUSG00000020636
AA Change: S212P

DomainStartEndE-ValueType
Pfam:Allantoicase 28 201 3e-51 PFAM
Pfam:Allantoicase 224 385 1.9e-39 PFAM
low complexity region 392 403 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110917
AA Change: S212P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106542
Gene: ENSMUSG00000020636
AA Change: S212P

DomainStartEndE-ValueType
Pfam:Allantoicase 28 201 3e-51 PFAM
Pfam:Allantoicase 224 385 1.9e-39 PFAM
low complexity region 392 403 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.1%
  • 10x: 98.1%
  • 20x: 96.8%
Validation Efficiency 98% (44/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.[supplied by OMIM, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 A G 16: 35,110,481 (GRCm39) M883V probably benign Het
Anxa10 A G 8: 62,513,279 (GRCm39) probably benign Het
Apoa2 A G 1: 171,053,268 (GRCm39) probably null Het
Arfgef2 T C 2: 166,668,889 (GRCm39) probably benign Het
Arhgap30 G T 1: 171,230,854 (GRCm39) V204L probably damaging Het
Cd109 T A 9: 78,596,223 (GRCm39) V852E possibly damaging Het
Ceacam5 T A 7: 17,481,269 (GRCm39) Y339N probably damaging Het
Chaf1a A G 17: 56,374,441 (GRCm39) D876G probably damaging Het
Chd9 A G 8: 91,659,630 (GRCm39) K197E possibly damaging Het
Cnr2 A T 4: 135,644,632 (GRCm39) M237L probably benign Het
Dnm2 C A 9: 21,416,956 (GRCm39) Q830K probably damaging Het
Dst T C 1: 34,310,500 (GRCm39) L1615P probably damaging Het
Eid1 A G 2: 125,515,497 (GRCm39) D129G probably damaging Het
Exoc5 A G 14: 49,276,799 (GRCm39) probably benign Het
Greb1 T C 12: 16,723,803 (GRCm39) Y1854C probably benign Het
Il15ra T A 2: 11,723,138 (GRCm39) V54E probably damaging Het
Il4i1 G A 7: 44,489,128 (GRCm39) V306M probably damaging Het
Lrsam1 T C 2: 32,837,921 (GRCm39) D211G probably benign Het
Miga1 A T 3: 152,023,300 (GRCm39) F250L possibly damaging Het
Myrfl C T 10: 116,639,299 (GRCm39) probably benign Het
Nell1 A G 7: 49,869,333 (GRCm39) I203V probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or14j9 G A 17: 37,874,278 (GRCm39) T308I probably benign Het
Or4a15 T C 2: 89,193,599 (GRCm39) Y58C probably damaging Het
Or52u1 T A 7: 104,237,879 (GRCm39) N289K probably damaging Het
Pdxdc1 A G 16: 13,675,296 (GRCm39) L345P probably damaging Het
Pex3 C A 10: 13,418,420 (GRCm39) A79S probably benign Het
Pla2r1 A C 2: 60,288,754 (GRCm39) L626R possibly damaging Het
Plcb3 A G 19: 6,932,246 (GRCm39) S1107P probably damaging Het
Ppcdc C T 9: 57,327,441 (GRCm39) probably null Het
Rbak A T 5: 143,159,334 (GRCm39) F573Y probably damaging Het
Rfc1 A G 5: 65,436,052 (GRCm39) probably null Het
Rpl13 C T 8: 123,831,913 (GRCm39) A203V possibly damaging Het
Scn8a A G 15: 100,913,668 (GRCm39) H1020R possibly damaging Het
Slf1 A G 13: 77,251,590 (GRCm39) probably benign Het
Synj1 A G 16: 90,757,333 (GRCm39) L905S possibly damaging Het
Tmem59 T A 4: 107,044,922 (GRCm39) probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Uri1 A T 7: 37,669,103 (GRCm39) D127E probably damaging Het
Usp31 T C 7: 121,269,476 (GRCm39) E489G probably damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp941 C T 7: 140,391,577 (GRCm39) R594H probably damaging Het
Zfy1 T C Y: 725,983 (GRCm39) D594G probably damaging Het
Other mutations in Allc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Allc APN 12 28,614,248 (GRCm39) missense probably benign
IGL02869:Allc APN 12 28,623,206 (GRCm39) missense probably benign 0.05
IGL03393:Allc APN 12 28,610,010 (GRCm39) missense probably damaging 1.00
R1609:Allc UTSW 12 28,603,993 (GRCm39) missense probably damaging 0.99
R1997:Allc UTSW 12 28,613,482 (GRCm39) missense probably benign 0.34
R4322:Allc UTSW 12 28,604,023 (GRCm39) missense probably benign 0.00
R4837:Allc UTSW 12 28,609,308 (GRCm39) missense probably benign 0.06
R5207:Allc UTSW 12 28,605,325 (GRCm39) missense probably benign 0.09
R5469:Allc UTSW 12 28,605,305 (GRCm39) missense probably benign 0.00
R6727:Allc UTSW 12 28,607,388 (GRCm39) missense probably damaging 1.00
R7350:Allc UTSW 12 28,613,408 (GRCm39) missense possibly damaging 0.84
R7985:Allc UTSW 12 28,603,971 (GRCm39) missense probably damaging 0.99
R8040:Allc UTSW 12 28,605,351 (GRCm39) missense probably damaging 0.99
R8282:Allc UTSW 12 28,607,356 (GRCm39) missense probably damaging 1.00
R8807:Allc UTSW 12 28,615,489 (GRCm39) missense probably damaging 1.00
R9522:Allc UTSW 12 28,620,653 (GRCm39) missense probably damaging 1.00
R9554:Allc UTSW 12 28,607,414 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGTACCATGACTCTTGCTGACCCA -3'
(R):5'- TGCTGTGTTGTAAGCCTAGAGGGAA -3'

Sequencing Primer
(F):5'- ACATGGGGCATCACTCTAGC -3'
(R):5'- TTGTAAGCCTAGAGGGAAAGGAG -3'
Posted On 2013-11-08