Incidental Mutation 'R5239:4930568D16Rik'
ID 400567
Institutional Source Beutler Lab
Gene Symbol 4930568D16Rik
Ensembl Gene ENSMUSG00000026882
Gene Name RIKEN cDNA 4930568D16 gene
Synonyms
MMRRC Submission 042810-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R5239 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 35244230-35257741 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35244848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 168 (N168S)
Ref Sequence ENSEMBL: ENSMUSP00000028243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028243]
AlphaFold A2AUQ7
Predicted Effect probably benign
Transcript: ENSMUST00000028243
AA Change: N168S

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028243
Gene: ENSMUSG00000026882
AA Change: N168S

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 11 319 1.3e-101 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 94% (60/64)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T A 8: 25,184,207 (GRCm39) T598S possibly damaging Het
Ago1 G T 4: 126,335,008 (GRCm39) H405N probably damaging Het
Atp8b4 T C 2: 126,234,781 (GRCm39) probably null Het
Baz1a A G 12: 54,945,129 (GRCm39) S1409P probably damaging Het
Brinp2 T C 1: 158,078,908 (GRCm39) E305G probably benign Het
Bub1 T A 2: 127,663,616 (GRCm39) R262W probably damaging Het
Cish T A 9: 107,177,111 (GRCm39) probably null Het
Clip4 T A 17: 72,106,072 (GRCm39) I85K probably damaging Het
Cpsf2 T A 12: 101,953,532 (GRCm39) C187* probably null Het
Ddx51 C A 5: 110,801,514 (GRCm39) T54K probably benign Het
Drc1 A T 5: 30,520,467 (GRCm39) T603S probably benign Het
Eif3l T A 15: 78,973,995 (GRCm39) M470K possibly damaging Het
Entpd2 A G 2: 25,290,830 (GRCm39) T445A probably damaging Het
Epha1 C A 6: 42,341,944 (GRCm39) V369L possibly damaging Het
Galnt9 T A 5: 110,692,635 (GRCm39) L23H probably damaging Het
Gm1110 A G 9: 26,804,866 (GRCm39) F399S probably benign Het
Gm43972 G A 5: 25,866,119 (GRCm39) noncoding transcript Het
Gm6489 T A 1: 31,326,351 (GRCm39) noncoding transcript Het
Grik5 A T 7: 24,764,895 (GRCm39) M82K probably damaging Het
Hibch T C 1: 52,904,767 (GRCm39) Y121H probably damaging Het
Hyou1 T A 9: 44,296,560 (GRCm39) I495N possibly damaging Het
Il1rl2 T C 1: 40,404,255 (GRCm39) S459P probably benign Het
Kel A T 6: 41,665,048 (GRCm39) L254* probably null Het
Lasp1 A G 11: 97,690,686 (GRCm39) K23E probably damaging Het
Lemd2 C A 17: 27,422,773 (GRCm39) R207L possibly damaging Het
Myh1 A T 11: 67,106,051 (GRCm39) Q1222L probably benign Het
Myh2 G A 11: 67,083,269 (GRCm39) V1411I probably benign Het
Myo1f T C 17: 33,820,709 (GRCm39) F851L probably benign Het
Myom3 G A 4: 135,528,303 (GRCm39) probably benign Het
Nbas C A 12: 13,491,519 (GRCm39) L1464I probably benign Het
Nr2e3 G T 9: 59,857,059 (GRCm39) probably benign Het
Nrxn1 T C 17: 91,011,537 (GRCm39) D364G probably damaging Het
Or2y1 A G 11: 49,385,555 (GRCm39) H65R possibly damaging Het
Or5p68 T A 7: 107,945,853 (GRCm39) T112S probably benign Het
Or8g54 T A 9: 39,707,492 (GRCm39) S274T probably damaging Het
Or9g4b T G 2: 85,616,002 (GRCm39) I49S probably damaging Het
Otog T A 7: 45,936,859 (GRCm39) S1523T probably benign Het
Pcnx2 A T 8: 126,587,821 (GRCm39) probably null Het
Pkdcc C A 17: 83,523,413 (GRCm39) H173Q probably damaging Het
Pkn1 A G 8: 84,410,811 (GRCm39) L267P probably damaging Het
Polr1a A G 6: 71,890,021 (GRCm39) H80R probably damaging Het
Pwwp3a C T 10: 80,064,255 (GRCm39) R14* probably null Het
Rag1 G T 2: 101,473,300 (GRCm39) A614E possibly damaging Het
Ryr1 T C 7: 28,735,553 (GRCm39) D4075G probably damaging Het
Sdk2 C A 11: 113,758,859 (GRCm39) R455L probably damaging Het
Smoc2 A G 17: 14,589,227 (GRCm39) N232S probably benign Het
Snd1 T C 6: 28,545,524 (GRCm39) L360P probably damaging Het
Tmem26 T A 10: 68,587,096 (GRCm39) F181L probably damaging Het
Tnrc6a A G 7: 122,785,842 (GRCm39) M1512V probably benign Het
Tsc22d1 T A 14: 76,655,852 (GRCm39) I20N probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r122 T C 7: 20,868,023 (GRCm39) T11A possibly damaging Het
Vpreb1a A T 16: 16,686,592 (GRCm39) Y99* probably null Het
Wnt9b A T 11: 103,622,054 (GRCm39) probably null Het
Zfp143 A G 7: 109,693,559 (GRCm39) E604G probably damaging Het
Other mutations in 4930568D16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:4930568D16Rik APN 2 35,245,640 (GRCm39) missense probably benign 0.36
IGL01701:4930568D16Rik APN 2 35,254,776 (GRCm39) missense possibly damaging 0.95
IGL02049:4930568D16Rik APN 2 35,254,801 (GRCm39) missense probably benign 0.03
R0112:4930568D16Rik UTSW 2 35,244,815 (GRCm39) missense probably benign 0.06
R1778:4930568D16Rik UTSW 2 35,244,995 (GRCm39) missense probably damaging 1.00
R2398:4930568D16Rik UTSW 2 35,244,872 (GRCm39) missense possibly damaging 0.86
R3846:4930568D16Rik UTSW 2 35,244,570 (GRCm39) missense probably damaging 1.00
R4648:4930568D16Rik UTSW 2 35,244,458 (GRCm39) missense probably damaging 1.00
R5418:4930568D16Rik UTSW 2 35,244,738 (GRCm39) missense probably damaging 1.00
R5889:4930568D16Rik UTSW 2 35,244,461 (GRCm39) missense probably damaging 1.00
R5951:4930568D16Rik UTSW 2 35,244,811 (GRCm39) missense probably damaging 1.00
R6014:4930568D16Rik UTSW 2 35,244,881 (GRCm39) missense probably benign 0.00
R6091:4930568D16Rik UTSW 2 35,252,348 (GRCm39) missense possibly damaging 0.77
R7363:4930568D16Rik UTSW 2 35,244,782 (GRCm39) missense probably damaging 1.00
R7773:4930568D16Rik UTSW 2 35,244,606 (GRCm39) missense probably damaging 1.00
R8776:4930568D16Rik UTSW 2 35,245,002 (GRCm39) missense probably benign 0.01
R8776-TAIL:4930568D16Rik UTSW 2 35,245,002 (GRCm39) missense probably benign 0.01
R9108:4930568D16Rik UTSW 2 35,244,942 (GRCm39) missense probably damaging 1.00
R9367:4930568D16Rik UTSW 2 35,244,939 (GRCm39) missense probably benign 0.03
R9566:4930568D16Rik UTSW 2 35,244,645 (GRCm39) nonsense probably null
R9673:4930568D16Rik UTSW 2 35,244,399 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGGATGAAAGCTGCAGATTTAGTTC -3'
(R):5'- GCTTTTCAAAAGAGCCCCTGAG -3'

Sequencing Primer
(F):5'- AGTTCTTCTCTCATAGGGGAAGTCTC -3'
(R):5'- CTGAGACGCTTCATAAAGTCTGCTG -3'
Posted On 2016-07-06