Incidental Mutation 'R4414:4930503E14Rik'
ID 328077
Institutional Source Beutler Lab
Gene Symbol 4930503E14Rik
Ensembl Gene ENSMUSG00000072595
Gene Name RIKEN cDNA 4930503E14 gene
Synonyms
MMRRC Submission 041694-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4414 (G1)
Quality Score 136
Status Not validated
Chromosome 14
Chromosomal Location 44400624-44408828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44406690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 120 (M120L)
Ref Sequence ENSEMBL: ENSMUSP00000098254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100688] [ENSMUST00000226164]
AlphaFold Q9D583
Predicted Effect probably benign
Transcript: ENSMUST00000100688
AA Change: M120L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000098254
Gene: ENSMUSG00000072595
AA Change: M120L

DomainStartEndE-ValueType
Pfam:Takusan 48 128 3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226475
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,773,584 (GRCm39) probably null Het
Acss1 A G 2: 150,501,823 (GRCm39) S115P possibly damaging Het
Ank2 A T 3: 127,019,411 (GRCm39) probably null Het
AU041133 C T 10: 81,987,316 (GRCm39) T323M probably damaging Het
Bdp1 T C 13: 100,167,369 (GRCm39) D2215G probably damaging Het
Bod1l G A 5: 41,977,870 (GRCm39) T1148I probably benign Het
Celsr1 C T 15: 85,847,334 (GRCm39) V1468I probably benign Het
Celsr1 A G 15: 85,812,200 (GRCm39) V2065A probably damaging Het
Cep89 A G 7: 35,115,822 (GRCm39) probably benign Het
Cfap58 A G 19: 47,941,480 (GRCm39) K283E possibly damaging Het
Cog5 C T 12: 31,710,853 (GRCm39) Q78* probably null Het
Col20a1 C T 2: 180,643,043 (GRCm39) R796C possibly damaging Het
Dnah7b A T 1: 46,165,840 (GRCm39) T502S probably benign Het
Dnm1l A G 16: 16,160,559 (GRCm39) probably null Het
Dse A T 10: 34,028,632 (GRCm39) F819L probably benign Het
Eloa G T 4: 135,738,553 (GRCm39) L136I possibly damaging Het
Eloa T A 4: 135,738,576 (GRCm39) H128L probably benign Het
Fbxl6 T C 15: 76,421,924 (GRCm39) E205G possibly damaging Het
Golim4 T G 3: 75,802,347 (GRCm39) N287T probably benign Het
Gpx8 T A 13: 113,179,682 (GRCm39) K206N possibly damaging Het
Iqgap3 G T 3: 88,004,293 (GRCm39) V460F probably benign Het
Kcne4 A T 1: 78,795,651 (GRCm39) M100L probably benign Het
Kmt2a A T 9: 44,721,077 (GRCm39) probably benign Het
Ktn1 G A 14: 47,962,387 (GRCm39) W1117* probably null Het
Lad1 A G 1: 135,756,484 (GRCm39) D364G probably benign Het
Lmln T G 16: 32,930,220 (GRCm39) I559S probably benign Het
Mapk4 A T 18: 74,063,609 (GRCm39) F538I possibly damaging Het
Mlxipl A G 5: 135,166,253 (GRCm39) probably benign Het
Mmrn1 T C 6: 60,921,570 (GRCm39) L9P probably damaging Het
Mnat1 G A 12: 73,228,601 (GRCm39) R155H probably damaging Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Naaladl1 T C 19: 6,165,581 (GRCm39) L745P probably damaging Het
Obsl1 A T 1: 75,467,546 (GRCm39) D1409E probably benign Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Pla2g4e A T 2: 120,013,194 (GRCm39) H375Q probably benign Het
Prodh2 G A 7: 30,205,877 (GRCm39) V238M probably damaging Het
Rdh14 G A 12: 10,441,231 (GRCm39) probably null Het
Rho G A 6: 115,912,191 (GRCm39) V76I probably benign Het
Rock1 A T 18: 10,080,514 (GRCm39) M1010K probably damaging Het
Ros1 A G 10: 52,038,800 (GRCm39) probably null Het
Sim1 A T 10: 50,857,708 (GRCm39) D486V probably benign Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Src A G 2: 157,306,573 (GRCm39) D192G probably damaging Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Tmem145 A G 7: 25,006,554 (GRCm39) Y54C probably damaging Het
Try4 C T 6: 41,281,905 (GRCm39) P164S possibly damaging Het
Vegfc A T 8: 54,634,130 (GRCm39) N270Y probably benign Het
Other mutations in 4930503E14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:4930503E14Rik APN 14 44,401,391 (GRCm39) missense probably benign 0.10
IGL01995:4930503E14Rik APN 14 44,401,302 (GRCm39) utr 3 prime probably benign
R2925:4930503E14Rik UTSW 14 44,407,755 (GRCm39) missense probably damaging 0.98
R4067:4930503E14Rik UTSW 14 44,406,641 (GRCm39) missense probably damaging 0.99
R4347:4930503E14Rik UTSW 14 44,408,635 (GRCm39) missense probably damaging 0.96
R4504:4930503E14Rik UTSW 14 44,407,899 (GRCm39) missense probably damaging 0.98
R5047:4930503E14Rik UTSW 14 44,406,698 (GRCm39) missense possibly damaging 0.87
R7489:4930503E14Rik UTSW 14 44,407,756 (GRCm39) missense probably damaging 0.99
R9665:4930503E14Rik UTSW 14 44,407,796 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACTGAGTCCAAGAGGTACAAATCC -3'
(R):5'- ATGTGGCATACAATTGGCTTGG -3'

Sequencing Primer
(F):5'- CTTTCTTCAAGGGAGGGCTC -3'
(R):5'- TGGGTAGTCCAGATACAGCC -3'
Posted On 2015-07-07