Incidental Mutation 'R5728:A930018P22Rik'
ID 452588
Institutional Source Beutler Lab
Gene Symbol A930018P22Rik
Ensembl Gene ENSMUSG00000032671
Gene Name RIKEN cDNA A930018P22 gene
Synonyms
MMRRC Submission 043345-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R5728 (G1)
Quality Score 186
Status Not validated
Chromosome 2
Chromosomal Location 103953114-103955091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103953213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 13 (M13K)
Ref Sequence ENSEMBL: ENSMUSP00000044861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040374]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000040374
AA Change: M13K

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000044861
Gene: ENSMUSG00000032671
AA Change: M13K

DomainStartEndE-ValueType
low complexity region 51 65 N/A INTRINSIC
low complexity region 67 98 N/A INTRINSIC
low complexity region 140 157 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,520,576 (GRCm39) V4493D probably damaging Het
Ank1 A G 8: 23,612,783 (GRCm39) probably null Het
B4galnt4 A G 7: 140,650,488 (GRCm39) D785G probably benign Het
Chtop C T 3: 90,407,399 (GRCm39) G187D probably damaging Het
Cnih1 A G 14: 47,017,648 (GRCm39) F78S probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dcun1d4 T C 5: 73,677,491 (GRCm39) F57L possibly damaging Het
Dgkz A G 2: 91,776,132 (GRCm39) S44P possibly damaging Het
Dhps A G 8: 85,799,964 (GRCm39) D138G probably damaging Het
Elp2 A G 18: 24,750,509 (GRCm39) E282G probably damaging Het
Exoc6b T C 6: 84,837,173 (GRCm39) Y342C probably damaging Het
Fasn A C 11: 120,704,339 (GRCm39) S1386A probably benign Het
Foxj3 A T 4: 119,430,959 (GRCm39) N111Y probably damaging Het
Gm5431 T C 11: 48,779,440 (GRCm39) E772G probably damaging Het
Gpbar1 A G 1: 74,318,216 (GRCm39) N153S probably damaging Het
Hspg2 T C 4: 137,270,077 (GRCm39) I2345T possibly damaging Het
Igkv6-29 C A 6: 70,115,584 (GRCm39) G70V possibly damaging Het
Lce1f A G 3: 92,626,652 (GRCm39) S2P unknown Het
Lrrk2 A G 15: 91,659,177 (GRCm39) D1863G probably benign Het
Lurap1 T C 4: 116,001,585 (GRCm39) E36G possibly damaging Het
Lysmd3 A G 13: 81,817,380 (GRCm39) E119G probably damaging Het
Map9 G A 3: 82,270,642 (GRCm39) V69I probably benign Het
Mfsd4b2 A C 10: 39,799,791 (GRCm39) F37C possibly damaging Het
Moxd1 A T 10: 24,099,581 (GRCm39) H27L possibly damaging Het
Myo15a A T 11: 60,379,722 (GRCm39) K1476N probably damaging Het
Mzf1 A G 7: 12,777,985 (GRCm39) I552T probably benign Het
Nfatc2 A G 2: 168,322,169 (GRCm39) V910A probably benign Het
Or52n2 C T 7: 104,542,436 (GRCm39) R133Q possibly damaging Het
Prss2 T C 6: 41,500,851 (GRCm39) V88A probably benign Het
Rhbdf1 A G 11: 32,159,901 (GRCm39) probably null Het
Slc10a4 A T 5: 73,169,677 (GRCm39) Q434L probably damaging Het
Slc4a3 A G 1: 75,526,484 (GRCm39) T2A probably benign Het
Sqor A G 2: 122,651,320 (GRCm39) *194W probably null Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tagap1 A G 17: 7,224,420 (GRCm39) V92A probably benign Het
Tiam2 A G 17: 3,465,231 (GRCm39) Y320C probably damaging Het
Toporsl T C 4: 52,611,469 (GRCm39) I454T probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Ubap1l T C 9: 65,276,570 (GRCm39) V24A probably benign Het
Unc13c A T 9: 73,466,238 (GRCm39) S1810T probably benign Het
Vmn1r56 A T 7: 5,199,122 (GRCm39) I165K probably benign Het
Wnt8b A G 19: 44,499,757 (GRCm39) T169A possibly damaging Het
Wrap73 T C 4: 154,239,099 (GRCm39) probably null Het
Wwc2 A G 8: 48,317,096 (GRCm39) I703T unknown Het
Zfp354a T A 11: 50,961,432 (GRCm39) C546S probably damaging Het
Other mutations in A930018P22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02971:A930018P22Rik APN 2 103,953,564 (GRCm39) missense probably benign 0.01
R0418:A930018P22Rik UTSW 2 103,953,675 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCAAGGACGATAGCTTTGCCC -3'
(R):5'- GCTCGTAGGGAATAGAAGCC -3'

Sequencing Primer
(F):5'- TTTGCCCGAAGCTGACTCG -3'
(R):5'- TAGAAGCCAGGCCGGAC -3'
Posted On 2017-01-03