Incidental Mutation 'R7609:4930563M21Rik'
ID 588498
Institutional Source Beutler Lab
Gene Symbol 4930563M21Rik
Ensembl Gene ENSMUSG00000050702
Gene Name RIKEN cDNA 4930563M21 gene
Synonyms Rfpl3s
MMRRC Submission 045714-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R7609 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 55869873-55917834 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55896744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 288 (Y288C)
Ref Sequence ENSEMBL: ENSMUSP00000150879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000217105]
AlphaFold E9QAA9
Predicted Effect probably benign
Transcript: ENSMUST00000217105
AA Change: Y288C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (69/72)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Agl C A 3: 116,600,928 (GRCm39) R24I possibly damaging Het
Aldoart2 A G 12: 55,612,833 (GRCm39) T253A probably benign Het
Ankrd39 G A 1: 36,578,546 (GRCm39) R160W probably damaging Het
Aspscr1 C T 11: 120,568,348 (GRCm39) T57M probably damaging Het
Baz2b A G 2: 59,792,817 (GRCm39) L437S probably benign Het
Bcl9l T A 9: 44,417,044 (GRCm39) L331Q probably damaging Het
Cdhr4 C A 9: 107,874,482 (GRCm39) P546T probably damaging Het
Cfap61 T C 2: 145,954,453 (GRCm39) C231R unknown Het
Cnih4 T C 1: 180,983,467 (GRCm39) L61P probably damaging Het
Dtx4 A G 19: 12,469,645 (GRCm39) Y161H probably damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Ercc6 A G 14: 32,288,318 (GRCm39) H830R probably benign Het
Exoc7 T C 11: 116,180,085 (GRCm39) N673S possibly damaging Het
Gm12185 T C 11: 48,806,850 (GRCm39) S114G possibly damaging Het
Hsfy2 A T 1: 56,676,310 (GRCm39) F76I probably benign Het
Igsf9b A G 9: 27,257,186 (GRCm39) D1413G probably benign Het
Klk1b8 G A 7: 43,451,603 (GRCm39) C198Y probably damaging Het
Lama3 G T 18: 12,664,891 (GRCm39) probably null Het
Lce3f A T 3: 92,900,403 (GRCm39) S75C unknown Het
Ldhal6b T C 17: 5,468,266 (GRCm39) M223V probably benign Het
Magoh T C 4: 107,744,409 (GRCm39) V126A possibly damaging Het
Mc1r A T 8: 124,135,032 (GRCm39) I262F probably damaging Het
Mecom A G 3: 30,010,591 (GRCm39) I629T probably damaging Het
Mkrn2os A G 6: 115,563,687 (GRCm39) V116A possibly damaging Het
Mtcl3 A T 10: 29,024,224 (GRCm39) D380V probably damaging Het
Muc5b T A 7: 141,415,466 (GRCm39) V2804D possibly damaging Het
Myo15a T C 11: 60,379,637 (GRCm39) V279A Het
Nhlrc2 A G 19: 56,583,328 (GRCm39) I600V probably benign Het
Nipbl T C 15: 8,335,356 (GRCm39) Q2183R probably benign Het
Obscn C T 11: 58,891,125 (GRCm39) E7136K unknown Het
Or10ag56 T C 2: 87,139,853 (GRCm39) V260A probably benign Het
Or5p4 T A 7: 107,680,753 (GRCm39) F251I probably damaging Het
Or8c9 A C 9: 38,241,520 (GRCm39) L209F possibly damaging Het
Or8g37 C T 9: 39,731,583 (GRCm39) T216I probably benign Het
Otop3 T C 11: 115,230,546 (GRCm39) I141T possibly damaging Het
Pde4dip C A 3: 97,622,881 (GRCm39) V1443F possibly damaging Het
Pdgfra T C 5: 75,327,382 (GRCm39) V193A probably benign Het
Phf3 T C 1: 30,844,582 (GRCm39) Y1459C probably benign Het
Pias4 A T 10: 80,993,860 (GRCm39) probably null Het
Plcg2 A G 8: 118,284,852 (GRCm39) N159S probably benign Het
Plekha7 T C 7: 115,763,681 (GRCm39) D307G probably benign Het
Ptprd T C 4: 75,990,240 (GRCm39) K491E probably benign Het
Rbpjl A T 2: 164,247,734 (GRCm39) R62S probably benign Het
Rgs11 T C 17: 26,426,415 (GRCm39) S245P probably damaging Het
Ripor3 G A 2: 167,826,490 (GRCm39) A685V possibly damaging Het
Rnase9 G A 14: 51,276,940 (GRCm39) P13S possibly damaging Het
Saxo5 A T 8: 3,526,057 (GRCm39) H70L probably benign Het
Scin C T 12: 40,174,588 (GRCm39) C165Y probably damaging Het
Senp7 T C 16: 55,932,000 (GRCm39) W100R probably benign Het
Slc26a2 T C 18: 61,331,532 (GRCm39) D633G probably benign Het
Slc4a4 C T 5: 89,283,545 (GRCm39) P446S probably damaging Het
Spag17 T A 3: 100,002,911 (GRCm39) C1878* probably null Het
Ssc5d A G 7: 4,930,575 (GRCm39) E129G possibly damaging Het
Supt6 T C 11: 78,117,777 (GRCm39) N480D probably benign Het
Tbk1 A G 10: 121,388,406 (GRCm39) L590S probably damaging Het
Tmem63a T A 1: 180,780,539 (GRCm39) probably null Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Trio A G 15: 27,912,728 (GRCm39) S109P unknown Het
Tsga10 A T 1: 37,843,974 (GRCm39) probably null Het
Ttn A T 2: 76,626,107 (GRCm39) L14984* probably null Het
Tyr T C 7: 87,133,092 (GRCm39) T325A probably benign Het
U2surp A T 9: 95,367,732 (GRCm39) probably null Het
Uba6 C A 5: 86,294,934 (GRCm39) K368N probably benign Het
Upb1 A G 10: 75,272,035 (GRCm39) T283A probably benign Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Vmn1r31 A G 6: 58,449,455 (GRCm39) Y137H probably damaging Het
Wdtc1 T C 4: 133,023,748 (GRCm39) K541R probably damaging Het
Wrn A G 8: 33,800,741 (GRCm39) I624T possibly damaging Het
Zfp804b T A 5: 6,820,066 (GRCm39) D999V possibly damaging Het
Zmym4 T A 4: 126,819,588 (GRCm39) H105L probably benign Het
Other mutations in 4930563M21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02721:4930563M21Rik APN 9 55,888,124 (GRCm39) missense probably benign 0.14
R2471:4930563M21Rik UTSW 9 55,888,147 (GRCm39) missense probably benign 0.03
R3831:4930563M21Rik UTSW 9 55,880,992 (GRCm39) missense unknown
R4237:4930563M21Rik UTSW 9 55,888,126 (GRCm39) missense probably benign 0.29
R4238:4930563M21Rik UTSW 9 55,888,126 (GRCm39) missense probably benign 0.29
R4239:4930563M21Rik UTSW 9 55,888,126 (GRCm39) missense probably benign 0.29
R5412:4930563M21Rik UTSW 9 55,886,036 (GRCm39) missense probably damaging 0.97
R6191:4930563M21Rik UTSW 9 55,909,807 (GRCm39) missense possibly damaging 0.81
R6368:4930563M21Rik UTSW 9 55,897,416 (GRCm39) missense possibly damaging 0.46
R6415:4930563M21Rik UTSW 9 55,881,296 (GRCm39) missense probably benign 0.00
R6700:4930563M21Rik UTSW 9 55,881,140 (GRCm39) missense unknown
R6727:4930563M21Rik UTSW 9 55,896,760 (GRCm39) missense possibly damaging 0.46
R7346:4930563M21Rik UTSW 9 55,914,587 (GRCm39) missense unknown
R7470:4930563M21Rik UTSW 9 55,898,622 (GRCm39) missense possibly damaging 0.68
R7499:4930563M21Rik UTSW 9 55,907,186 (GRCm39) missense possibly damaging 0.49
R7616:4930563M21Rik UTSW 9 55,896,738 (GRCm39) missense probably benign 0.03
R7662:4930563M21Rik UTSW 9 55,885,999 (GRCm39) missense probably benign 0.00
R8018:4930563M21Rik UTSW 9 55,880,991 (GRCm39) missense unknown
R8057:4930563M21Rik UTSW 9 55,916,564 (GRCm39) missense unknown
R8077:4930563M21Rik UTSW 9 55,895,250 (GRCm39) missense probably damaging 0.97
R8782:4930563M21Rik UTSW 9 55,910,242 (GRCm39) critical splice donor site probably null
R9178:4930563M21Rik UTSW 9 55,880,992 (GRCm39) missense unknown
R9214:4930563M21Rik UTSW 9 55,890,653 (GRCm39) missense probably benign 0.03
R9293:4930563M21Rik UTSW 9 55,916,568 (GRCm39) missense unknown
R9441:4930563M21Rik UTSW 9 55,917,776 (GRCm39) missense unknown
R9602:4930563M21Rik UTSW 9 55,910,261 (GRCm39) missense possibly damaging 0.66
R9667:4930563M21Rik UTSW 9 55,890,645 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CATTCTGTGTTTCAACAGTTGTGT -3'
(R):5'- ACAGTACCCAGCCTCAGGTAT -3'

Sequencing Primer
(F):5'- CCTGCCTGTATGTTTTCTAAGGAG -3'
(R):5'- ACCCAGCCTCAGGTATTTTCTAAGAG -3'
Posted On 2019-10-24