Incidental Mutation 'R6378:C330018D20Rik'
ID 515162
Institutional Source Beutler Lab
Gene Symbol C330018D20Rik
Ensembl Gene ENSMUSG00000024592
Gene Name RIKEN cDNA C330018D20 gene
Synonyms
MMRRC Submission 044528-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R6378 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 57088905-57108440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57095579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 2 (L2P)
Ref Sequence ENSEMBL: ENSMUSP00000116181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025488] [ENSMUST00000139243]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000025488
AA Change: L2P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025488
Gene: ENSMUSG00000024592
AA Change: L2P

DomainStartEndE-ValueType
Pfam:DUF836 31 105 9.7e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139243
AA Change: L2P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116181
Gene: ENSMUSG00000024592
AA Change: L2P

DomainStartEndE-ValueType
Pfam:DUF836 31 105 1.6e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 A T 15: 72,995,774 (GRCm39) D408E probably benign Het
Agpat2 T C 2: 26,486,147 (GRCm39) N178S probably benign Het
Arsi T C 18: 61,049,573 (GRCm39) F152S probably damaging Het
Atp13a2 T A 4: 140,734,367 (GRCm39) L1163Q probably benign Het
Bpifb2 T A 2: 153,733,072 (GRCm39) L385Q possibly damaging Het
Cby3 A G 11: 50,250,360 (GRCm39) T189A probably damaging Het
Cdc42bpa A T 1: 179,921,561 (GRCm39) D567V possibly damaging Het
Cdh5 T A 8: 104,853,168 (GRCm39) probably null Het
Cela1 C T 15: 100,585,071 (GRCm39) V20I probably benign Het
Cmpk2 G A 12: 26,519,415 (GRCm39) G22E possibly damaging Het
Ctcf T A 8: 106,390,423 (GRCm39) V10E possibly damaging Het
Dpp10 C A 1: 123,339,468 (GRCm39) C353F probably damaging Het
Efcab3 A G 11: 104,999,620 (GRCm39) S5546G possibly damaging Het
Elp3 G T 14: 65,830,420 (GRCm39) Y10* probably null Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Eml4 T A 17: 83,755,646 (GRCm39) W336R probably damaging Het
Erich6 T C 3: 58,529,780 (GRCm39) probably null Het
Eya1 T C 1: 14,373,027 (GRCm39) N31D possibly damaging Het
Fam81a T A 9: 70,017,628 (GRCm39) N106Y probably damaging Het
Frrs1 A G 3: 116,694,639 (GRCm39) T487A possibly damaging Het
Ganc T C 2: 120,264,307 (GRCm39) M420T probably damaging Het
Gimap7 A T 6: 48,701,116 (GRCm39) E234V probably damaging Het
Gpbp1 T C 13: 111,570,146 (GRCm39) N400S probably damaging Het
Gucy2g T C 19: 55,229,377 (GRCm39) S98G probably benign Het
Hoxd10 T C 2: 74,524,678 (GRCm39) I330T possibly damaging Het
Ik T A 18: 36,890,341 (GRCm39) I539N probably damaging Het
Il17rb G A 14: 29,722,320 (GRCm39) T237I probably damaging Het
Ing2 T A 8: 48,122,293 (GRCm39) Q85L probably benign Het
Lrp4 C A 2: 91,324,174 (GRCm39) N1208K probably benign Het
Lvrn T A 18: 47,028,024 (GRCm39) S888R probably benign Het
Map2 T C 1: 66,454,488 (GRCm39) V1126A probably damaging Het
Mapkapk5 A G 5: 121,677,233 (GRCm39) probably null Het
Mis18bp1 T C 12: 65,196,021 (GRCm39) D581G probably benign Het
Muc4 T C 16: 32,599,320 (GRCm39) V3289A probably benign Het
Myom2 T A 8: 15,149,356 (GRCm39) I609N probably benign Het
Nav1 A T 1: 135,382,433 (GRCm39) M1343K probably damaging Het
Ndufaf1 T C 2: 119,486,207 (GRCm39) I302V probably damaging Het
Neb T A 2: 52,183,733 (GRCm39) K978N probably damaging Het
Nol8 A G 13: 49,820,831 (GRCm39) E878G probably damaging Het
Nrde2 A T 12: 100,097,016 (GRCm39) I928N probably damaging Het
Nxf1 T A 19: 8,741,910 (GRCm39) D145E probably benign Het
Obox3 T A 7: 15,360,027 (GRCm39) H214L probably benign Het
Obscn T C 11: 58,964,572 (GRCm39) E3199G probably damaging Het
Ogfod3 T C 11: 121,093,761 (GRCm39) E83G probably benign Het
Or11a4 T A 17: 37,536,688 (GRCm39) V224E probably benign Het
Or2r3 T G 6: 42,448,687 (GRCm39) M142L probably benign Het
Or6b2 A G 1: 92,408,178 (GRCm39) L55P probably damaging Het
Or8s8 T C 15: 98,354,425 (GRCm39) V78A probably benign Het
Pcsk4 G T 10: 80,164,809 (GRCm39) H69N probably benign Het
Plcl2 C T 17: 50,975,188 (GRCm39) probably null Het
Pmfbp1 T C 8: 110,256,898 (GRCm39) I534T probably damaging Het
Prss23 A T 7: 89,159,241 (GRCm39) I276N probably damaging Het
Ramac A G 7: 81,417,387 (GRCm39) Y29C probably damaging Het
Rhd T A 4: 134,621,696 (GRCm39) F403Y possibly damaging Het
Rsf1 CG CGACGGCGGAG 7: 97,229,115 (GRCm39) probably benign Homo
Scg5 A G 2: 113,657,737 (GRCm39) V58A possibly damaging Het
Scn5a C T 9: 119,315,102 (GRCm39) G1868R probably damaging Het
Secisbp2l A G 2: 125,610,245 (GRCm39) S225P possibly damaging Het
Sema4f A T 6: 82,894,613 (GRCm39) L486* probably null Het
Slc25a47 G A 12: 108,822,069 (GRCm39) R286H probably damaging Het
Slc5a8 A C 10: 88,740,916 (GRCm39) K277T probably damaging Het
Slc66a3 T C 12: 17,047,644 (GRCm39) Y96C probably damaging Het
Sorcs1 T A 19: 50,213,615 (GRCm39) E704V possibly damaging Het
Sptan1 T C 2: 29,908,527 (GRCm39) S1768P probably damaging Het
Srd5a2 C T 17: 74,328,378 (GRCm39) probably null Het
Sytl2 A T 7: 90,007,432 (GRCm39) K65* probably null Het
Tas2r109 T G 6: 132,957,844 (GRCm39) I29L probably benign Het
Tfap2a A T 13: 40,876,717 (GRCm39) V234E possibly damaging Het
Tgfbr3 G A 5: 107,325,679 (GRCm39) L128F probably benign Het
Trappc12 A T 12: 28,797,082 (GRCm39) L150Q probably damaging Het
Trim43b T A 9: 88,967,452 (GRCm39) I395L probably benign Het
U2surp C T 9: 95,373,474 (GRCm39) E232K probably benign Het
Vax1 T C 19: 59,154,656 (GRCm39) N327S probably benign Het
Vmn1r14 T C 6: 57,210,587 (GRCm39) V11A probably benign Het
Vmn1r60 A G 7: 5,547,782 (GRCm39) V106A probably damaging Het
Vmn2r106 T C 17: 20,498,667 (GRCm39) S415G probably benign Het
Vmn2r3 C T 3: 64,182,517 (GRCm39) G394D probably damaging Het
Ybx2 A G 11: 69,831,179 (GRCm39) E63G possibly damaging Het
Zfhx4 T A 3: 5,308,410 (GRCm39) N545K probably benign Het
Zp1 T C 19: 10,892,217 (GRCm39) T56A probably benign 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
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'- GTCAAAAGAGGTCTTCCCACTTC -3'
(R):5'- ACACTTGCCAAACATCTGGGC -3'

Sequencing Primer
(F):5'- CTCAGGGACATACATAACCTTTTC -3'
(R):5'- AAACATCTGGGCCTCTCTGAC -3'
Posted On 2018-05-04