Incidental Mutation 'R8445:C330018D20Rik'
ID 654473
Institutional Source Beutler Lab
Gene Symbol C330018D20Rik
Ensembl Gene ENSMUSG00000024592
Gene Name RIKEN cDNA C330018D20 gene
Synonyms
MMRRC Submission 067886-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R8445 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 57088905-57108440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 57090962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 67 (P67L)
Ref Sequence ENSEMBL: ENSMUSP00000025488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025488] [ENSMUST00000139243]
AlphaFold no structure available at present
PDB Structure Solution structure of hypothetical protein C330018D20Rik from Mus musculus [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000025488
AA Change: P67L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025488
Gene: ENSMUSG00000024592
AA Change: P67L

DomainStartEndE-ValueType
Pfam:DUF836 31 105 9.7e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139243
AA Change: P67L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116181
Gene: ENSMUSG00000024592
AA Change: P67L

DomainStartEndE-ValueType
Pfam:DUF836 31 105 1.6e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 T G 9: 70,674,203 (GRCm39) S522A probably benign Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Alg12 C T 15: 88,698,689 (GRCm39) R212Q probably benign Het
Col3a1 C T 1: 45,380,340 (GRCm39) R955* probably null Het
Cyp2j12 T A 4: 96,021,259 (GRCm39) I116F possibly damaging Het
Cyp4a10 T A 4: 115,382,791 (GRCm39) W331R probably damaging Het
Dmbt1 T A 7: 130,692,110 (GRCm39) Y959N unknown Het
Dytn T A 1: 63,686,673 (GRCm39) K332N probably benign Het
E130308A19Rik T A 4: 59,720,526 (GRCm39) V686D probably damaging Het
Epha8 T C 4: 136,659,600 (GRCm39) Y792C probably benign Het
Fam53c T C 18: 34,901,368 (GRCm39) V95A probably benign Het
Fbxl4 C A 4: 22,385,983 (GRCm39) Q197K probably benign Het
Fmod G A 1: 133,968,736 (GRCm39) V259I probably benign Het
Insrr T C 3: 87,720,891 (GRCm39) S1050P probably damaging Het
Itga4 A G 2: 79,112,125 (GRCm39) M347V probably benign Het
Kdm5d A G Y: 916,874 (GRCm39) E423G probably damaging Het
Klra7 A T 6: 130,204,078 (GRCm39) I147N possibly damaging Het
Lbx1 T A 19: 45,222,651 (GRCm39) K124I probably damaging Het
Map4k5 T A 12: 69,897,741 (GRCm39) H138L probably damaging Het
Mc3r A G 2: 172,091,237 (GRCm39) H153R probably damaging Het
Myh15 C A 16: 48,940,381 (GRCm39) T777N probably damaging Het
Nfatc4 A C 14: 56,063,875 (GRCm39) I121L possibly damaging Het
Nipa1 A T 7: 55,629,466 (GRCm39) S216T probably benign Het
Nlrp4e A T 7: 23,039,965 (GRCm39) I763L probably benign Het
Nop2 A G 6: 125,111,567 (GRCm39) D100G probably benign Het
Or2a52 A G 6: 43,144,231 (GRCm39) M80V probably benign Het
Or8b12i T A 9: 20,082,394 (GRCm39) I158L probably benign Het
Prelid3a A G 18: 67,606,848 (GRCm39) E80G probably damaging Het
Prl4a1 T C 13: 28,205,445 (GRCm39) S137P possibly damaging Het
Rbpms2 C T 9: 65,558,303 (GRCm39) A113V possibly damaging Het
Rph3a T C 5: 121,111,433 (GRCm39) E49G probably damaging Het
Shisa7 A T 7: 4,839,352 (GRCm39) M124K probably benign Het
Shprh C T 10: 11,057,313 (GRCm39) P1078S possibly damaging Het
Slc30a7 C T 3: 115,800,995 (GRCm39) probably benign Het
Smarca4 CGAGGAGGAGGAGGAGG CGAGGAGGAGGAGG 9: 21,612,239 (GRCm39) probably benign Het
Smg1 A C 7: 117,736,200 (GRCm39) N3563K possibly damaging Het
Spata31d1c G T 13: 65,180,991 (GRCm39) S30I probably damaging Het
St6galnac6 A G 2: 32,498,532 (GRCm39) probably benign Het
Tcp11l1 C A 2: 104,512,278 (GRCm39) E451D probably benign Het
Tfpt G A 7: 3,623,928 (GRCm39) P160S probably damaging Het
Thbs4 C A 13: 92,927,349 (GRCm39) A47S probably benign Het
Trpm2 T C 10: 77,746,086 (GRCm39) D1482G probably damaging Het
Tspyl4 C T 10: 34,173,742 (GRCm39) A78V probably benign Het
Vmn2r26 A G 6: 124,002,995 (GRCm39) N135S probably damaging Het
Vmn2r87 A T 10: 130,313,335 (GRCm39) V477E probably damaging Het
Wdr89 T C 12: 75,679,636 (GRCm39) D206G probably damaging Het
Zfp623 C A 15: 75,819,402 (GRCm39) Y119* probably null Het
Zfp879 A G 11: 50,724,213 (GRCm39) M281T probably damaging Het
Zfp952 T G 17: 33,222,552 (GRCm39) F344V possibly damaging Het
Zgrf1 T C 3: 127,379,854 (GRCm39) probably null Het
Other mutations in C330018D20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2857:C330018D20Rik UTSW 18 57,095,531 (GRCm39) missense probably benign 0.01
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
Predicted Primers PCR Primer
(F):5'- AGCTTCCCCGCTCTACAATG -3'
(R):5'- CAGACTTTGTAAATGTAGGCCATTG -3'

Sequencing Primer
(F):5'- AGTAAACTTCTCATCTGGGTACTTGC -3'
(R):5'- GCCATTGGCTTGCTGTGG -3'
Posted On 2020-10-20