Incidental Mutation 'R2857:C330018D20Rik'
ID 252527
Institutional Source Beutler Lab
Gene Symbol C330018D20Rik
Ensembl Gene ENSMUSG00000024592
Gene Name RIKEN cDNA C330018D20 gene
Synonyms
MMRRC Submission 040447-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R2857 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 57088905-57108440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57095531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 18 (L18P)
Ref Sequence ENSEMBL: ENSMUSP00000116181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025488] [ENSMUST00000139243]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025488
AA Change: L18P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000025488
Gene: ENSMUSG00000024592
AA Change: L18P

DomainStartEndE-ValueType
Pfam:DUF836 31 105 9.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139243
AA Change: L18P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000116181
Gene: ENSMUSG00000024592
AA Change: L18P

DomainStartEndE-ValueType
Pfam:DUF836 31 105 1.6e-20 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330087D11Rik A T 7: 29,273,303 (GRCm39) noncoding transcript Het
Amfr A T 8: 94,731,842 (GRCm39) N11K probably damaging Het
Bpifa6 G A 2: 153,831,194 (GRCm39) M253I probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdh23 C T 10: 60,218,432 (GRCm39) probably null Het
Ceacam1 T A 7: 25,173,442 (GRCm39) I249F probably damaging Het
Cfap54 C T 10: 92,881,144 (GRCm39) R348Q probably damaging Het
Cfap91 A C 16: 38,123,075 (GRCm39) L651R probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cuzd1 C T 7: 130,917,863 (GRCm39) V246M probably damaging Het
Ehd2 A T 7: 15,698,054 (GRCm39) V61E probably damaging Het
Erich5 C T 15: 34,471,560 (GRCm39) T263I probably damaging Het
Fbxo36 A G 1: 84,874,316 (GRCm39) K104R probably benign Het
Fibin C T 2: 110,192,542 (GRCm39) R200H probably damaging Het
Gad2 A C 2: 22,563,987 (GRCm39) M397L probably benign Het
Garin3 T C 11: 46,296,039 (GRCm39) I137T probably damaging Het
Iqgap3 C A 3: 88,014,903 (GRCm39) S873* probably null Het
Kcnh8 A G 17: 53,284,961 (GRCm39) D977G probably benign Het
Mau2 T C 8: 70,472,474 (GRCm39) M570V probably benign Het
Mrgprb4 T A 7: 47,848,084 (GRCm39) R281S possibly damaging Het
Mthfd1 T C 12: 76,335,699 (GRCm39) Y258H probably damaging Het
Nexn C T 3: 151,953,680 (GRCm39) E247K probably damaging Het
Or11g27 T A 14: 50,770,897 (GRCm39) N9K probably benign Het
Or3a10 C T 11: 73,935,653 (GRCm39) G149D possibly damaging Het
Or9e1 T A 11: 58,732,708 (GRCm39) V256E probably benign Het
Phrf1 T A 7: 140,839,593 (GRCm39) probably benign Het
Prc1 A G 7: 79,961,969 (GRCm39) N52S probably damaging Het
Psd G C 19: 46,312,859 (GRCm39) S170R probably benign Het
Riok1 T C 13: 38,233,053 (GRCm39) F229L probably damaging Het
Slco1a7 A G 6: 141,690,264 (GRCm39) V163A probably benign Het
Stat2 A G 10: 128,112,770 (GRCm39) probably null Het
Sycp3 A G 10: 88,303,234 (GRCm39) E166G probably damaging Het
Szt2 G A 4: 118,226,599 (GRCm39) T510I probably damaging Het
Trank1 A T 9: 111,196,001 (GRCm39) T1342S probably benign Het
Trav3-1 C A 14: 52,818,515 (GRCm39) A63E probably benign Het
Trim34b A T 7: 103,985,439 (GRCm39) N358I probably benign Het
Trmt11 G C 10: 30,423,744 (GRCm39) P387R probably damaging Het
Vmn2r82 T A 10: 79,217,090 (GRCm39) I474N probably damaging Het
Vrk2 C A 11: 26,433,324 (GRCm39) S286I possibly damaging Het
Wdfy3 A T 5: 102,023,796 (GRCm39) I2451N probably benign Het
Zfp326 G A 5: 106,036,395 (GRCm39) R102H probably benign Het
Other mutations in C330018D20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5431:C330018D20Rik UTSW 18 57,090,928 (GRCm39) missense probably benign 0.01
R5987:C330018D20Rik UTSW 18 57,090,968 (GRCm39) missense probably damaging 0.98
R6287:C330018D20Rik UTSW 18 57,095,407 (GRCm39) splice site probably null
R6378:C330018D20Rik UTSW 18 57,095,579 (GRCm39) missense probably damaging 0.99
R7619:C330018D20Rik UTSW 18 57,095,483 (GRCm39) missense probably damaging 1.00
R8445:C330018D20Rik UTSW 18 57,090,962 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGGTCAAAAGAGGTCTTCC -3'
(R):5'- CAAACATCTGGGCCTCTCTG -3'

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