Incidental Mutation 'R4504:4930503E14Rik'
ID 501806
Institutional Source Beutler Lab
Gene Symbol 4930503E14Rik
Ensembl Gene ENSMUSG00000072595
Gene Name RIKEN cDNA 4930503E14 gene
Synonyms
MMRRC Submission 041755-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4504 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 44400624-44408828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44407899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 45 (S45P)
Ref Sequence ENSEMBL: ENSMUSP00000098254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100688] [ENSMUST00000226164]
AlphaFold Q9D583
Predicted Effect probably damaging
Transcript: ENSMUST00000100688
AA Change: S45P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098254
Gene: ENSMUSG00000072595
AA Change: S45P

DomainStartEndE-ValueType
Pfam:Takusan 48 128 3e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000226164
AA Change: S69P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226475
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg4 C T X: 55,961,802 (GRCm39) R1124C possibly damaging Het
Anxa13 T C 15: 58,228,052 (GRCm39) noncoding transcript Het
Arhgap32 C A 9: 32,093,135 (GRCm39) probably null Het
Carm1 T C 9: 21,480,822 (GRCm39) F99L probably damaging Het
Dennd1b A G 1: 139,013,665 (GRCm39) E253G possibly damaging Het
Dsg4 A G 18: 20,594,493 (GRCm39) I541V probably benign Het
Dstyk A G 1: 132,362,127 (GRCm39) T186A possibly damaging Het
Ear1 A T 14: 44,056,721 (GRCm39) V49D probably benign Het
Epha10 A G 4: 124,809,480 (GRCm39) probably benign Het
Fbh1 A G 2: 11,753,828 (GRCm39) V838A possibly damaging Het
Fndc8 T A 11: 82,783,226 (GRCm39) M69K probably benign Het
Golga1 T C 2: 38,913,466 (GRCm39) I482V probably benign Het
Hivep3 G A 4: 119,590,990 (GRCm39) probably benign Het
Igkv13-85 A G 6: 68,907,356 (GRCm39) F82L probably damaging Het
Itih1 G A 14: 30,657,842 (GRCm39) R410C probably damaging Het
Kcnc2 T C 10: 112,291,699 (GRCm39) W296R probably damaging Het
Kcnq3 A T 15: 65,867,191 (GRCm39) Y817* probably null Het
Kif3b T C 2: 153,165,564 (GRCm39) probably null Het
Krtcap2 A G 3: 89,153,563 (GRCm39) probably benign Het
Lhx5 C A 5: 120,578,073 (GRCm39) H298N possibly damaging Het
Notch1 A G 2: 26,362,189 (GRCm39) V1022A probably benign Het
Npc1l1 A G 11: 6,178,741 (GRCm39) L223S possibly damaging Het
Or11m3 T C 15: 98,396,015 (GRCm39) F221L probably benign Het
Or4c10 C T 2: 89,760,695 (GRCm39) P181S possibly damaging Het
Or8a1b C T 9: 37,622,760 (GRCm39) V272I probably benign Het
Pbxip1 A G 3: 89,353,690 (GRCm39) D281G possibly damaging Het
Pcdhga8 G C 18: 37,949,816 (GRCm39) V411L probably damaging Het
Pcsk5 C T 19: 17,429,319 (GRCm39) C1553Y probably damaging Het
Pdgfc A C 3: 81,082,298 (GRCm39) M164L probably benign Het
Pdzd8 T C 19: 59,333,880 (GRCm39) Y47C probably damaging Het
Pip5k1c T A 10: 81,150,945 (GRCm39) I633N probably damaging Het
Pkn1 G A 8: 84,419,556 (GRCm39) R16* probably null Het
Pole2 A G 12: 69,269,242 (GRCm39) V85A probably benign Het
Ppp4c A C 7: 126,386,637 (GRCm39) L150R probably damaging Het
Pramel25 G C 4: 143,520,553 (GRCm39) E102Q probably benign Het
Ric8a A G 7: 140,438,429 (GRCm39) I223V probably benign Het
Rnf144a T A 12: 26,377,302 (GRCm39) R92S probably benign Het
Sbno2 C A 10: 79,896,326 (GRCm39) R898L possibly damaging Het
Scnn1b A C 7: 121,511,698 (GRCm39) N370T probably damaging Het
Taar3 A G 10: 23,825,471 (GRCm39) I6V possibly damaging Het
Vps13a T C 19: 16,672,866 (GRCm39) E1302G possibly damaging 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
R4414:4930503E14Rik UTSW 14 44,406,690 (GRCm39) missense probably benign 0.00
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'- CAGTCAACAGGATACAGGGC -3'
(R):5'- ATTTCAGGGTAAGTGGGAATGC -3'

Sequencing Primer
(F):5'- CAGGATACAGGGCATAATTTTACCTG -3'
(R):5'- TTCAGGGTAAGTGGGAATGCTATAAG -3'
Posted On 2017-12-01