Incidental Mutation 'PIT4519001:4930590J08Rik'
ID 555111
Institutional Source Beutler Lab
Gene Symbol 4930590J08Rik
Ensembl Gene ENSMUSG00000034063
Gene Name RIKEN cDNA 4930590J08 gene
Synonyms LOC381798
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4519001 (G1)
Quality Score 152.008
Status Not validated
Chromosome 6
Chromosomal Location 91879790-91927706 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 91894038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 218 (N218K)
Ref Sequence ENSEMBL: ENSMUSP00000146101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059318] [ENSMUST00000205686]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000059318
AA Change: N218K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000053778
Gene: ENSMUSG00000034063
AA Change: N218K

DomainStartEndE-ValueType
low complexity region 89 109 N/A INTRINSIC
Pfam:FAM194 357 561 4.1e-68 PFAM
low complexity region 626 637 N/A INTRINSIC
transmembrane domain 774 796 N/A INTRINSIC
low complexity region 891 909 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205686
AA Change: N218K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 90.9%
  • 10x: 84.7%
  • 20x: 70.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,217,440 (GRCm39) M803K probably benign Het
Abcc2 G A 19: 43,807,836 (GRCm39) V826M possibly damaging Het
Abcg2 T C 6: 58,651,792 (GRCm39) S395P probably damaging Het
Adam1b C T 5: 121,640,010 (GRCm39) G345D probably damaging Het
Alx4 T A 2: 93,505,773 (GRCm39) C292S probably benign Het
Amd2 C A 10: 35,586,627 (GRCm39) C310F possibly damaging Het
BC051665 A T 13: 60,931,989 (GRCm39) S137T possibly damaging Het
Bmp1 A G 14: 70,727,469 (GRCm39) F705L possibly damaging Het
Coil C T 11: 88,863,552 (GRCm39) probably benign Het
Col6a6 G A 9: 105,609,462 (GRCm39) P1609S probably benign Het
Cpt1b A T 15: 89,303,066 (GRCm39) F633I probably damaging Het
Dcun1d2 A T 8: 13,311,406 (GRCm39) D194E probably benign Het
Defb4 A G 8: 19,248,752 (GRCm39) R2G possibly damaging Het
Dll4 T C 2: 119,162,897 (GRCm39) V506A probably benign Het
Dop1b A G 16: 93,558,942 (GRCm39) S563G probably benign Het
Dpp7 C A 2: 25,242,460 (GRCm39) G498W probably damaging Het
Fam210a A T 18: 68,409,020 (GRCm39) S97T possibly damaging Het
Fastkd1 T A 2: 69,520,501 (GRCm39) D767V probably damaging Het
Fgg A T 3: 82,920,246 (GRCm39) N342Y probably damaging Het
Gimap6 T G 6: 48,684,995 (GRCm39) R30S probably benign Het
Gm10840 T C 11: 106,051,959 (GRCm39) V95A unknown Het
Herc3 T A 6: 58,853,796 (GRCm39) I614N probably damaging Het
Kdr A T 5: 76,097,556 (GRCm39) S1233R possibly damaging Het
Lrp1 C G 10: 127,443,843 (GRCm39) Q141H possibly damaging Het
Magi2 A T 5: 20,866,344 (GRCm39) K1078N probably damaging Het
Meioc A T 11: 102,570,783 (GRCm39) E838V probably damaging Het
Mmp20 A G 9: 7,628,302 (GRCm39) K17E probably benign Het
Mtor C T 4: 148,608,957 (GRCm39) R1538W probably damaging Het
Notch2 C T 3: 98,005,424 (GRCm39) T296I probably damaging Het
Nup98 T C 7: 101,784,171 (GRCm39) S1054G probably benign Het
Or10ac1 T C 6: 42,515,534 (GRCm39) T141A probably damaging Het
Or2a12 T C 6: 42,904,578 (GRCm39) C138R probably damaging Het
Or5b109 A C 19: 13,212,216 (GRCm39) I201L probably benign Het
Or6f1 T C 7: 85,970,941 (GRCm39) Y73C probably damaging Het
Pipox C A 11: 77,774,001 (GRCm39) W205L probably damaging Het
Plin4 T G 17: 56,410,828 (GRCm39) T1068P probably benign Het
Pou6f2 A G 13: 18,414,149 (GRCm39) S209P unknown Het
Ptpdc1 T C 13: 48,736,632 (GRCm39) T713A probably benign Het
Rgsl1 T C 1: 153,701,716 (GRCm39) Y246C possibly damaging Het
Rnf19b C T 4: 128,969,446 (GRCm39) A354V probably damaging Het
Rsph4a A G 10: 33,785,126 (GRCm39) T346A probably benign Het
Rsrc2 T C 5: 123,883,135 (GRCm39) T16A unknown Het
Scrn3 T C 2: 73,148,768 (GRCm39) V113A possibly damaging Het
Scrn3 T A 2: 73,161,347 (GRCm39) I311K possibly damaging Het
Sfmbt1 T C 14: 30,506,148 (GRCm39) probably null Het
Sin3a A G 9: 57,002,740 (GRCm39) I211V possibly damaging Het
Strn3 T C 12: 51,680,491 (GRCm39) T370A probably benign Het
Sulf1 T G 1: 12,918,395 (GRCm39) N786K probably damaging Het
Taf1b T A 12: 24,597,118 (GRCm39) Y352* probably null Het
Tas2r120 T A 6: 132,634,297 (GRCm39) N126K probably benign Het
Tjap1 C A 17: 46,572,432 (GRCm39) R68L probably benign Het
Tnfsf12 C T 11: 69,586,230 (GRCm39) R66Q probably benign Het
Traj45 A G 14: 54,410,303 (GRCm39) D6G Het
Trappc9 T C 15: 72,824,943 (GRCm39) T541A probably benign Het
Ttc29 A C 8: 79,052,106 (GRCm39) E329A probably benign Het
Vmn1r117 T G 7: 20,617,160 (GRCm39) D296A possibly damaging Het
Vmn1r203 A G 13: 22,708,765 (GRCm39) N182S probably benign Het
Vps53 C A 11: 76,007,999 (GRCm39) R287L probably damaging Het
Vwce G A 19: 10,641,946 (GRCm39) E891K possibly damaging Het
Zfp608 T C 18: 55,079,783 (GRCm39) N334S possibly damaging Het
Zfp648 A G 1: 154,080,687 (GRCm39) H282R probably damaging Het
Other mutations in 4930590J08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:4930590J08Rik APN 6 91,896,099 (GRCm39) missense possibly damaging 0.74
IGL01478:4930590J08Rik APN 6 91,911,590 (GRCm39) missense probably benign 0.01
IGL01481:4930590J08Rik APN 6 91,910,079 (GRCm39) missense probably damaging 1.00
IGL01485:4930590J08Rik APN 6 91,927,003 (GRCm39) missense probably damaging 0.96
IGL01794:4930590J08Rik APN 6 91,895,093 (GRCm39) nonsense probably null
IGL01795:4930590J08Rik APN 6 91,895,093 (GRCm39) nonsense probably null
IGL02040:4930590J08Rik APN 6 91,895,091 (GRCm39) missense probably benign
IGL02171:4930590J08Rik APN 6 91,921,237 (GRCm39) missense probably benign 0.01
IGL02968:4930590J08Rik APN 6 91,900,454 (GRCm39) missense probably damaging 1.00
IGL03358:4930590J08Rik APN 6 91,905,716 (GRCm39) missense probably damaging 1.00
R0531:4930590J08Rik UTSW 6 91,892,127 (GRCm39) missense probably benign
R0569:4930590J08Rik UTSW 6 91,919,559 (GRCm39) nonsense probably null
R1536:4930590J08Rik UTSW 6 91,894,016 (GRCm39) missense probably benign 0.20
R1730:4930590J08Rik UTSW 6 91,896,259 (GRCm39) missense possibly damaging 0.60
R1758:4930590J08Rik UTSW 6 91,892,203 (GRCm39) missense possibly damaging 0.79
R1783:4930590J08Rik UTSW 6 91,896,259 (GRCm39) missense possibly damaging 0.60
R1911:4930590J08Rik UTSW 6 91,927,050 (GRCm39) splice site probably benign
R1930:4930590J08Rik UTSW 6 91,892,002 (GRCm39) missense probably benign 0.01
R1936:4930590J08Rik UTSW 6 91,894,061 (GRCm39) missense possibly damaging 0.90
R2157:4930590J08Rik UTSW 6 91,919,468 (GRCm39) missense possibly damaging 0.48
R2157:4930590J08Rik UTSW 6 91,894,679 (GRCm39) splice site probably null
R4072:4930590J08Rik UTSW 6 91,922,342 (GRCm39) splice site probably null
R4662:4930590J08Rik UTSW 6 91,891,939 (GRCm39) missense probably benign
R4900:4930590J08Rik UTSW 6 91,895,091 (GRCm39) missense probably benign
R4936:4930590J08Rik UTSW 6 91,921,245 (GRCm39) missense probably damaging 1.00
R5394:4930590J08Rik UTSW 6 91,896,174 (GRCm39) missense probably benign 0.00
R5887:4930590J08Rik UTSW 6 91,892,124 (GRCm39) nonsense probably null
R5931:4930590J08Rik UTSW 6 91,896,096 (GRCm39) missense probably damaging 1.00
R6174:4930590J08Rik UTSW 6 91,919,517 (GRCm39) missense probably damaging 0.99
R6179:4930590J08Rik UTSW 6 91,919,311 (GRCm39) missense probably damaging 0.96
R6380:4930590J08Rik UTSW 6 91,900,118 (GRCm39) missense probably damaging 1.00
R6531:4930590J08Rik UTSW 6 91,926,980 (GRCm39) missense possibly damaging 0.88
R7570:4930590J08Rik UTSW 6 91,911,591 (GRCm39) missense probably benign 0.03
R7860:4930590J08Rik UTSW 6 91,905,707 (GRCm39) missense probably damaging 1.00
R7936:4930590J08Rik UTSW 6 91,900,445 (GRCm39) nonsense probably null
R7958:4930590J08Rik UTSW 6 91,911,464 (GRCm39) missense probably benign 0.02
R7968:4930590J08Rik UTSW 6 91,922,441 (GRCm39) missense
R8111:4930590J08Rik UTSW 6 91,894,691 (GRCm39) missense probably benign
R8953:4930590J08Rik UTSW 6 91,892,002 (GRCm39) missense probably benign 0.01
R9084:4930590J08Rik UTSW 6 91,892,016 (GRCm39) missense probably damaging 0.97
R9154:4930590J08Rik UTSW 6 91,926,926 (GRCm39) missense probably benign 0.09
R9319:4930590J08Rik UTSW 6 91,922,446 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TTACAGAGTCATTTGGAGAGGCAG -3'
(R):5'- AACCCTGCTGCTGTGACTAG -3'

Sequencing Primer
(F):5'- ACAAAGTATGGCCCATGCTG -3'
(R):5'- ACTAGATGTGCTGCGGCTC -3'
Posted On 2019-06-07