Incidental Mutation 'R8077:4930563M21Rik'
ID 629090
Institutional Source Beutler Lab
Gene Symbol 4930563M21Rik
Ensembl Gene ENSMUSG00000050702
Gene Name RIKEN cDNA 4930563M21 gene
Synonyms Rfpl3s
MMRRC Submission 067511-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R8077 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 55869873-55917834 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 55895250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 315 (V315M)
Ref Sequence ENSEMBL: ENSMUSP00000150879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000217105]
AlphaFold E9QAA9
Predicted Effect probably damaging
Transcript: ENSMUST00000217105
AA Change: V315M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 95.4%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,467,237 (GRCm39) V132E probably benign Het
Aadacl4fm1 T C 4: 144,255,126 (GRCm39) I182T probably benign Het
Alb G C 5: 90,615,214 (GRCm39) R242P probably damaging Het
Amotl1 A T 9: 14,461,798 (GRCm39) V805D probably damaging Het
Arhgef3 T C 14: 27,107,881 (GRCm39) L179P probably damaging Het
Atp8b3 G A 10: 80,366,858 (GRCm39) L247F possibly damaging Het
Ccdc191 T C 16: 43,735,968 (GRCm39) probably null Het
Celsr3 A G 9: 108,705,530 (GRCm39) H671R probably benign Het
Cemip C A 7: 83,652,616 (GRCm39) probably benign Het
Cfap97 G T 8: 46,623,482 (GRCm39) V291F possibly damaging Het
Clca3a2 A G 3: 144,777,288 (GRCm39) V861A possibly damaging Het
Cln8 A T 8: 14,944,950 (GRCm39) D88V probably damaging Het
Col18a1 C A 10: 76,916,685 (GRCm39) G330V unknown Het
Dis3 C T 14: 99,327,471 (GRCm39) R344Q probably benign Het
Esyt2 T A 12: 116,305,848 (GRCm39) S359R possibly damaging Het
Fbxo41 A T 6: 85,450,211 (GRCm39) L844Q probably damaging Het
Fn1 G A 1: 71,651,761 (GRCm39) T1372M probably damaging Het
Gbp5 G A 3: 142,213,500 (GRCm39) R472H probably benign Het
Gm4559 C T 7: 141,827,553 (GRCm39) R183K unknown Het
Gm9507 T A 10: 77,647,604 (GRCm39) E25V unknown Het
Golgb1 A G 16: 36,738,995 (GRCm39) I2486V probably damaging Het
Ifitm10 A T 7: 141,924,704 (GRCm39) V45D probably damaging Het
Ift80 A G 3: 68,823,478 (GRCm39) Y595H probably benign Het
Itga8 C T 2: 12,247,244 (GRCm39) V326I probably benign Het
Kif14 A T 1: 136,399,186 (GRCm39) H449L possibly damaging Het
Klrh1 A G 6: 129,743,658 (GRCm39) Y209H probably benign Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lrrc8b C A 5: 105,627,883 (GRCm39) S76R possibly damaging Het
Lrrn1 T C 6: 107,545,783 (GRCm39) L527P probably damaging Het
Luc7l T C 17: 26,474,047 (GRCm39) V35A probably damaging Het
Luzp1 T G 4: 136,270,402 (GRCm39) V875G probably damaging Het
Mcf2l G T 8: 13,048,494 (GRCm39) probably null Het
Mcoln2 T C 3: 145,896,169 (GRCm39) M497T probably damaging Het
Mrgprb4 A T 7: 47,848,203 (GRCm39) S242T probably benign Het
Muc21 TCAGTGGTGGTCAGGATGGGGGTAGAGCCTGAGCCACTCCTGGATGCAGTGGTGGTCAGG TCAGTGGTGGTCAGG 17: 35,930,628 (GRCm39) probably benign Het
Nipbl T A 15: 8,340,734 (GRCm39) R1995S possibly damaging Het
Nup35 A G 2: 80,469,280 (GRCm39) probably null Het
Or13a17 C T 7: 140,271,046 (GRCm39) S76F probably benign Het
Or2o1 A G 11: 49,051,312 (GRCm39) D157G probably damaging Het
Or6k2 A G 1: 173,979,411 (GRCm39) probably benign Het
Prdm12 A G 2: 31,532,316 (GRCm39) K109E probably damaging Het
Ptch1 A T 13: 63,688,626 (GRCm39) L444Q probably damaging Het
Qtrt1 C T 9: 21,331,392 (GRCm39) R374* probably null Het
Rnase11 T C 14: 51,287,398 (GRCm39) D52G probably damaging Het
Rps6 A G 4: 86,774,158 (GRCm39) S148P probably benign Het
Rrm2b T C 15: 37,947,044 (GRCm39) K86E possibly damaging Het
Sh2d1b2 A G 1: 170,075,742 (GRCm39) K59E possibly damaging Het
Six6 T A 12: 72,987,100 (GRCm39) W91R probably damaging Het
Slc23a2 C A 2: 131,931,092 (GRCm39) A136S possibly damaging Het
Slc9a5 G A 8: 106,086,012 (GRCm39) R593H probably damaging Het
Smbd1 T C 16: 32,630,804 (GRCm39) M1V probably null Het
Ssbp4 T C 8: 71,051,647 (GRCm39) Y239C probably damaging Het
Stox1 T C 10: 62,501,345 (GRCm39) E405G probably damaging Het
Tle7 C T 8: 110,836,735 (GRCm39) T207M probably damaging Het
Tmem192 A G 8: 65,418,196 (GRCm39) I194V probably benign Het
Tns3 A T 11: 8,395,667 (GRCm39) C1246S probably damaging Het
Ugt1a6a A T 1: 88,066,575 (GRCm39) Q127L probably benign Het
Ush2a A G 1: 188,275,025 (GRCm39) I1833V probably benign Het
Vmn2r66 A T 7: 84,656,093 (GRCm39) Y308N probably benign Het
Vti1a T G 19: 55,564,917 (GRCm39) L191R probably benign Het
Zbtb38 A T 9: 96,570,153 (GRCm39) N310K 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
R7609:4930563M21Rik UTSW 9 55,896,744 (GRCm39) missense probably benign 0.00
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
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'- ACTGGTGGGCTAGGTACATG -3'
(R):5'- CTGACTTCCATAACTTTCCAGAGG -3'

Sequencing Primer
(F):5'- TGGGCTAGGTACATGAACAACTTCC -3'
(R):5'- CTTTCCAGAGGTGACAGTCTGAATC -3'
Posted On 2020-06-30