Incidental Mutation 'R6287:C330018D20Rik'
ID 508288
Institutional Source Beutler Lab
Gene Symbol C330018D20Rik
Ensembl Gene ENSMUSG00000024592
Gene Name RIKEN cDNA C330018D20 gene
Synonyms
MMRRC Submission 044457-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R6287 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 57088905-57108440 bp(-) (GRCm39)
Type of Mutation splice site (66 bp from exon)
DNA Base Change (assembly) A to C at 57095407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025488] [ENSMUST00000139243]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000025488
SMART Domains Protein: ENSMUSP00000025488
Gene: ENSMUSG00000024592

DomainStartEndE-ValueType
Pfam:DUF836 31 105 9.7e-18 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000139243
SMART Domains Protein: ENSMUSP00000116181
Gene: ENSMUSG00000024592

DomainStartEndE-ValueType
Pfam:DUF836 31 105 1.6e-20 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 94% (34/36)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 A G 8: 89,037,736 (GRCm39) N268S possibly damaging Het
Ahnak T A 19: 8,992,367 (GRCm39) H4550Q probably benign Het
Camta2 G C 11: 70,572,295 (GRCm39) Q310E probably damaging Het
Caskin1 A T 17: 24,715,683 (GRCm39) K149M probably damaging Het
Chml T C 1: 175,514,569 (GRCm39) K108E probably benign Het
Ddx60 T C 8: 62,403,612 (GRCm39) L345P probably damaging Het
Defb6 T A 8: 19,278,085 (GRCm39) C52* probably null Het
Flii A T 11: 60,612,423 (GRCm39) I288N probably damaging Het
Fmnl2 T C 2: 52,904,860 (GRCm39) Y55H probably damaging Het
Galk2 A T 2: 125,712,268 (GRCm39) probably benign Het
Ift140 T A 17: 25,269,408 (GRCm39) C688S probably benign Het
Lmln T C 16: 32,894,555 (GRCm39) probably null Het
Muc16 T C 9: 18,570,330 (GRCm39) T730A unknown Het
Nup88 T C 11: 70,856,581 (GRCm39) E184G probably benign Het
Omt2b T C 9: 78,235,543 (GRCm39) F27L possibly damaging Het
Or10g3 A T 14: 52,609,748 (GRCm39) V254E probably damaging Het
Or2a7 A G 6: 43,151,369 (GRCm39) I150V probably benign Het
Or2y13 A G 11: 49,415,072 (GRCm39) N174S probably damaging Het
Or4a15 G A 2: 89,193,363 (GRCm39) R137* probably null Het
Or6c69b T C 10: 129,627,254 (GRCm39) E68G probably damaging Het
Peg10 T TCCC 6: 4,756,451 (GRCm39) probably benign Het
Pigf G A 17: 87,304,967 (GRCm39) A192V probably damaging Het
Pikfyve T C 1: 65,292,691 (GRCm39) probably null Het
Ppat A T 5: 77,066,061 (GRCm39) Y352* probably null Het
Rapgef6 T G 11: 54,517,164 (GRCm39) probably null Het
Rrp15 A T 1: 186,481,373 (GRCm39) S45T probably benign Het
Sap18 A G 14: 58,035,771 (GRCm39) E30G probably damaging Het
Snx6 G T 12: 54,793,813 (GRCm39) A284E possibly damaging Het
Tm4sf4 T A 3: 57,333,112 (GRCm39) I26N probably damaging Het
Traf5 A G 1: 191,731,833 (GRCm39) L336P probably damaging Het
Ttl G A 2: 128,931,041 (GRCm39) A335T probably damaging Het
Vmn2r87 C T 10: 130,314,291 (GRCm39) probably null Het
Zfp74 G A 7: 29,635,201 (GRCm39) T169I probably benign Het
Zfp937 A T 2: 150,080,261 (GRCm39) H97L possibly damaging Het
Zzef1 G T 11: 72,813,938 (GRCm39) E2842D probably damaging 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
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'- AACCCAATCCAGTACTTTCCTAGG -3'
(R):5'- GTTTCAAGGAAAGAGCCTGCAG -3'

Sequencing Primer
(F):5'- GATGGTGTTTTCTAGGACATAACTAC -3'
(R):5'- AAGAGCCTGCAGATTGCC -3'
Posted On 2018-03-15