Incidental Mutation 'R5469:Allc'
ID 433417
Institutional Source Beutler Lab
Gene Symbol Allc
Ensembl Gene ENSMUSG00000020636
Gene Name allantoicase
Synonyms 1700012B22Rik
MMRRC Submission 043030-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R5469 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 28603754-28632522 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28605305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 331 (N331K)
Ref Sequence ENSEMBL: ENSMUSP00000106542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020963] [ENSMUST00000020965] [ENSMUST00000110917] [ENSMUST00000221349]
AlphaFold Q9JHX6
Predicted Effect probably benign
Transcript: ENSMUST00000020963
SMART Domains Protein: ENSMUSP00000020963
Gene: ENSMUSG00000020633

DomainStartEndE-ValueType
DCX 11 98 2.16e-29 SMART
DCX 131 217 6.18e-7 SMART
low complexity region 302 316 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000020965
AA Change: N331K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000020965
Gene: ENSMUSG00000020636
AA Change: N331K

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: N331K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106542
Gene: ENSMUSG00000020636
AA Change: N331K

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: ENSMUST00000185916
Predicted Effect probably benign
Transcript: ENSMUST00000221349
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 G T 2: 128,517,621 (GRCm39) S341* probably null Het
Cacna1e T C 1: 154,319,683 (GRCm39) E1339G probably damaging Het
Cacna2d1 T A 5: 16,557,676 (GRCm39) I702N probably damaging Het
Casp2 C A 6: 42,246,268 (GRCm39) H209N probably benign Het
Casr A G 16: 36,330,392 (GRCm39) V314A probably benign Het
Ccne2 A T 4: 11,201,353 (GRCm39) R294* probably null Het
Cd180 T A 13: 102,841,342 (GRCm39) H129Q probably benign Het
Chst10 A T 1: 38,904,608 (GRCm39) Y362N probably damaging Het
Ctnna1 T A 18: 35,372,573 (GRCm39) D509E probably benign Het
Ctsh G T 9: 89,942,564 (GRCm39) probably null Het
Dhx29 C T 13: 113,081,073 (GRCm39) A369V possibly damaging Het
Enox1 A G 14: 77,830,414 (GRCm39) T340A probably benign Het
Fam135b T A 15: 71,317,892 (GRCm39) T1357S probably benign Het
Flt3 A T 5: 147,291,893 (GRCm39) S544T possibly damaging Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gsap A T 5: 21,495,542 (GRCm39) Y831F possibly damaging Het
Hnrnpr C T 4: 136,046,745 (GRCm39) T142M probably damaging Het
Jak3 A G 8: 72,131,417 (GRCm39) D94G probably benign Het
Ktn1 A T 14: 47,928,377 (GRCm39) E579D probably damaging Het
Lama2 G A 10: 26,917,185 (GRCm39) P2247S possibly damaging Het
Lrba C T 3: 86,449,948 (GRCm39) S2089F probably damaging Het
Map1b C T 13: 99,565,846 (GRCm39) V2292M unknown Het
Mphosph10 A T 7: 64,039,193 (GRCm39) probably null Het
Pappa C T 4: 65,123,389 (GRCm39) T908M probably benign Het
Pdcd10 T A 3: 75,428,364 (GRCm39) K150* probably null Het
Piezo2 A T 18: 63,160,935 (GRCm39) I2275N probably damaging Het
Pmvk T C 3: 89,374,989 (GRCm39) probably null Het
Pold2 G A 11: 5,823,048 (GRCm39) P376S probably damaging Het
Prtg A T 9: 72,799,247 (GRCm39) Q759L probably damaging Het
Rad51ap1 C T 6: 126,905,190 (GRCm39) S107N probably damaging Het
Rfk T A 19: 17,372,566 (GRCm39) N29K probably damaging Het
Ror2 T C 13: 53,271,375 (GRCm39) M315V probably benign Het
Rrn3 A G 16: 13,630,964 (GRCm39) E600G probably benign Het
Ryk A G 9: 102,784,153 (GRCm39) Y593C possibly damaging Het
Slc30a3 T A 5: 31,246,004 (GRCm39) D193V probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Srbd1 C A 17: 86,427,370 (GRCm39) C421F possibly damaging Het
Sstr5 A C 17: 25,711,043 (GRCm39) V62G probably damaging Het
Tfip11 G A 5: 112,482,191 (GRCm39) W483* probably null Het
Tlk1 T C 2: 70,552,012 (GRCm39) H553R probably benign Het
Tnc T C 4: 63,932,162 (GRCm39) probably null Het
Trav12-1 A G 14: 53,775,930 (GRCm39) T27A probably damaging Het
Usp9y G A Y: 1,364,714 (GRCm39) T1033I probably benign Het
V1ra8 C T 6: 90,180,186 (GRCm39) H130Y probably benign Het
Vmn2r77 A T 7: 86,451,271 (GRCm39) M386L probably benign 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
R0945:Allc UTSW 12 28,609,962 (GRCm39) missense probably benign
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
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'- TGGAGCTCAGTCAGTAGTAAGG -3'
(R):5'- AAGCCCAATGCCATTCCTTC -3'

Sequencing Primer
(F):5'- CTCAGTCAGTAGTAAGGAGATGTG -3'
(R):5'- AGGCAAGTGTTCTACCACTG -3'
Posted On 2016-10-06