Incidental Mutation 'R1068:4930546C10Rik'
ID 86107
Institutional Source Beutler Lab
Gene Symbol 4930546C10Rik
Ensembl Gene ENSMUSG00000024546
Gene Name RIKEN cDNA 4930546C10 gene
Synonyms
MMRRC Submission 039154-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R1068 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 69022558-69084599 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69083139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 25 (V25E)
Ref Sequence ENSEMBL: ENSMUSP00000025428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025428]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000025428
AA Change: V25E
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.6%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C A 7: 119,307,933 (GRCm39) Q357K probably benign Het
Adam11 T G 11: 102,667,204 (GRCm39) L619R probably damaging Het
Ccne2 A G 4: 11,192,850 (GRCm39) N17S probably benign Het
Cfap52 T C 11: 67,829,830 (GRCm39) H313R probably benign Het
Chsy3 A T 18: 59,543,361 (GRCm39) H833L probably damaging Het
Csnk1a1 G T 18: 61,702,634 (GRCm39) probably null Het
Cyp2c40 T C 19: 39,801,025 (GRCm39) K77E possibly damaging Het
Dmtf1 T C 5: 9,186,109 (GRCm39) E159G probably damaging Het
Fat3 C T 9: 15,881,330 (GRCm39) V3181I probably benign Het
Gab1 T C 8: 81,526,801 (GRCm39) D99G possibly damaging Het
Garem1 T C 18: 21,301,812 (GRCm39) E125G probably benign Het
Kcnf1 A G 12: 17,225,475 (GRCm39) Y249H probably damaging Het
Kit C T 5: 75,770,178 (GRCm39) H197Y probably benign Het
Memo1 T A 17: 74,532,550 (GRCm39) I153F probably damaging Het
Myh7 T A 14: 55,224,776 (GRCm39) N597I possibly damaging Het
Nop2 A G 6: 125,109,242 (GRCm39) K23E probably damaging Het
Nxf1 T A 19: 8,740,118 (GRCm39) V95E probably damaging Het
Pamr1 T A 2: 102,472,590 (GRCm39) C630S probably damaging Het
Ptprh G T 7: 4,552,462 (GRCm39) P934Q possibly damaging Het
Ralgapa1 A G 12: 55,837,095 (GRCm39) probably null Het
Ralyl T A 3: 13,841,949 (GRCm39) N28K probably damaging Het
Rasgrp1 A G 2: 117,113,057 (GRCm39) V785A probably benign Het
Rpp30 T A 19: 36,061,138 (GRCm39) M1K probably null Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Snx19 G A 9: 30,340,314 (GRCm39) R484Q probably damaging Het
Speer4a1 A T 5: 26,241,024 (GRCm39) L156Q probably null Het
St18 A G 1: 6,865,786 (GRCm39) D88G probably benign Het
Syt7 T C 19: 10,421,375 (GRCm39) Y520H probably benign Het
Taf7l2 C T 10: 115,949,359 (GRCm39) V56I probably damaging Het
Tle4 C G 19: 14,429,543 (GRCm39) W674C probably damaging Het
Tnik T A 3: 28,587,124 (GRCm39) Y132N probably damaging Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Vps11 A T 9: 44,264,316 (GRCm39) L719Q probably damaging Het
Zc3h4 T G 7: 16,163,161 (GRCm39) H520Q unknown Het
Zdbf2 C T 1: 63,342,589 (GRCm39) R323C possibly damaging Het
Zfp616 T A 11: 73,973,767 (GRCm39) *99K probably null Het
Other mutations in 4930546C10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:4930546C10Rik APN 18 69,083,173 (GRCm39) nonsense probably null
IGL01505:4930546C10Rik APN 18 69,080,418 (GRCm39) splice site probably null
IGL02304:4930546C10Rik APN 18 69,083,122 (GRCm39) missense unknown
IGL02368:4930546C10Rik APN 18 69,083,060 (GRCm39) splice site probably benign
R7276:4930546C10Rik UTSW 18 69,083,093 (GRCm39) nonsense probably null
R7386:4930546C10Rik UTSW 18 69,083,208 (GRCm39) missense unknown
R7922:4930546C10Rik UTSW 18 69,083,067 (GRCm39) critical splice donor site probably null
R8898:4930546C10Rik UTSW 18 69,083,106 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCCCTCAGTGTTGTGAAGTGACCC -3'
(R):5'- CGAAGGAGGTACACCCAGTTGATG -3'

Sequencing Primer
(F):5'- TGTGAAGTGACCCGTAcagc -3'
(R):5'- ttcacaaactatcctacagcattc -3'
Posted On 2013-11-18