Incidental Mutation 'R6092:4930486L24Rik'
ID 486007
Institutional Source Beutler Lab
Gene Symbol 4930486L24Rik
Ensembl Gene ENSMUSG00000050345
Gene Name RIKEN cDNA 4930486L24 gene
Synonyms
MMRRC Submission 044249-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R6092 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 60990426-61012230 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 61001461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 89 (V89M)
Ref Sequence ENSEMBL: ENSMUSP00000089157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091569] [ENSMUST00000225690]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000091569
AA Change: V89M

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000089157
Gene: ENSMUSG00000050345
AA Change: V89M

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Inhibitor_I29 29 88 1e-19 SMART
Pept_C1 114 332 7.93e-112 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000225382
Predicted Effect probably benign
Transcript: ENSMUST00000225690
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,774,701 (GRCm39) P1297S probably benign Het
Abhd16a T C 17: 35,317,786 (GRCm39) probably null Het
Abtb1 A C 6: 88,815,433 (GRCm39) C264G probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arid1a C T 4: 133,421,163 (GRCm39) G881R unknown Het
Asb8 A G 15: 98,034,123 (GRCm39) V144A possibly damaging Het
Atm A C 9: 53,435,714 (GRCm39) C199G probably damaging Het
Atxn1 C A 13: 45,720,288 (GRCm39) V536L probably benign Het
Baz1a C T 12: 54,955,868 (GRCm39) V1074M possibly damaging Het
BC034090 T A 1: 155,100,659 (GRCm39) D535V probably damaging Het
Casp8ap2 C A 4: 32,639,380 (GRCm39) H145N probably damaging Het
Ccdc24 T A 4: 117,729,645 (GRCm39) K25* probably null Het
Ccdc91 A G 6: 147,437,114 (GRCm39) N100S possibly damaging Het
Cdh20 A T 1: 110,026,036 (GRCm39) Y424F probably benign Het
Clasp1 T C 1: 118,438,028 (GRCm39) S612P probably damaging Het
Cxcl14 T C 13: 56,443,646 (GRCm39) M55V possibly damaging Het
Dnah11 T C 12: 117,892,191 (GRCm39) T3661A probably benign Het
Dnah14 T A 1: 181,449,398 (GRCm39) D574E probably benign Het
Dnah6 C T 6: 73,091,680 (GRCm39) V2204M possibly damaging Het
Ercc4 A T 16: 12,943,125 (GRCm39) H178L probably benign Het
Far2 T C 6: 148,076,581 (GRCm39) F475L probably benign Het
Ggt7 A G 2: 155,359,959 (GRCm39) probably null Het
Gm4131 T A 14: 62,718,364 (GRCm39) T81S possibly damaging Het
Gprc6a A G 10: 51,491,173 (GRCm39) S788P probably damaging Het
Hmgxb3 C A 18: 61,270,672 (GRCm39) G884V possibly damaging Het
Homer1 T A 13: 93,502,945 (GRCm39) probably benign Het
Iars1 T C 13: 49,861,897 (GRCm39) S483P probably damaging Het
Kansl1l C G 1: 66,812,643 (GRCm39) E457Q probably damaging Het
Krtap4-9 G A 11: 99,676,481 (GRCm39) probably benign Het
Lepr C A 4: 101,649,220 (GRCm39) P874T probably damaging Het
Mad2l2 T A 4: 148,228,067 (GRCm39) F100L probably damaging Het
Mavs A T 2: 131,087,518 (GRCm39) R339* probably null Het
Mettl1 G A 10: 126,877,843 (GRCm39) probably benign Het
Mfsd8 A G 3: 40,774,031 (GRCm39) V493A possibly damaging Het
Mtmr9 C T 14: 63,779,901 (GRCm39) V63M possibly damaging Het
Mto1 T C 9: 78,368,131 (GRCm39) I425T possibly damaging Het
Or2av9 A T 11: 58,380,900 (GRCm39) M227K probably damaging Het
Or5g29 A G 2: 85,420,950 (GRCm39) Y22C probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pclo C T 5: 14,727,937 (GRCm39) probably benign Het
Phf2 T C 13: 48,969,533 (GRCm39) D608G unknown Het
Plch2 T C 4: 155,068,829 (GRCm39) T1266A probably benign Het
Prdm12 A G 2: 31,533,889 (GRCm39) N169D probably damaging Het
Rimbp3 A G 16: 17,030,134 (GRCm39) Y1186C probably damaging Het
Serpinb3d T C 1: 107,006,989 (GRCm39) M240V probably damaging Het
Slc25a38 C T 9: 119,945,658 (GRCm39) R74C probably damaging Het
Slc25a39 A T 11: 102,295,719 (GRCm39) Y109* probably null Het
Slc26a8 T C 17: 28,867,129 (GRCm39) N564S probably damaging Het
Spag4 G A 2: 155,907,696 (GRCm39) probably benign Het
Stx1b A G 7: 127,407,035 (GRCm39) M74T possibly damaging Het
Tbc1d1 A G 5: 64,507,242 (GRCm39) D1153G probably benign Het
Tert T C 13: 73,776,700 (GRCm39) F484L probably benign Het
Tet1 A G 10: 62,649,494 (GRCm39) V72A probably benign Het
Tnfrsf13c T C 15: 82,107,355 (GRCm39) T147A probably damaging Het
Trpa1 A T 1: 14,959,710 (GRCm39) Y659N probably damaging Het
Trpm2 A G 10: 77,761,516 (GRCm39) F1045L probably benign Het
Ttc13 T C 8: 125,405,772 (GRCm39) H529R probably benign Het
Ttn T C 2: 76,545,614 (GRCm39) T32570A probably damaging Het
Uba7 A G 9: 107,860,359 (GRCm39) T892A possibly damaging Het
Uty A T Y: 1,174,836 (GRCm39) M195K probably benign Het
Zfp109 A G 7: 23,928,978 (GRCm39) S152P possibly damaging Het
Zfp532 T C 18: 65,777,281 (GRCm39) V846A probably damaging Het
Zfp658 A T 7: 43,223,951 (GRCm39) H742L possibly damaging Het
Zfp831 C A 2: 174,547,299 (GRCm39) P1494Q probably damaging Het
Other mutations in 4930486L24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:4930486L24Rik APN 13 61,002,673 (GRCm39) missense probably benign 0.00
IGL01325:4930486L24Rik APN 13 61,001,347 (GRCm39) missense probably damaging 1.00
IGL02290:4930486L24Rik APN 13 61,001,344 (GRCm39) missense probably damaging 1.00
IGL02861:4930486L24Rik APN 13 61,001,146 (GRCm39) splice site probably benign
PIT4514001:4930486L24Rik UTSW 13 61,001,328 (GRCm39) critical splice donor site probably null
R0110:4930486L24Rik UTSW 13 61,001,320 (GRCm39) splice site probably benign
R1396:4930486L24Rik UTSW 13 61,001,057 (GRCm39) missense probably benign 0.00
R1471:4930486L24Rik UTSW 13 61,001,336 (GRCm39) missense probably damaging 1.00
R1688:4930486L24Rik UTSW 13 61,002,695 (GRCm39) missense probably benign 0.00
R1697:4930486L24Rik UTSW 13 60,992,928 (GRCm39) missense probably damaging 1.00
R3838:4930486L24Rik UTSW 13 60,993,041 (GRCm39) missense probably damaging 1.00
R4714:4930486L24Rik UTSW 13 60,992,132 (GRCm39) missense probably damaging 1.00
R4976:4930486L24Rik UTSW 13 61,001,387 (GRCm39) nonsense probably null
R5072:4930486L24Rik UTSW 13 61,001,414 (GRCm39) missense probably benign 0.00
R5107:4930486L24Rik UTSW 13 61,001,472 (GRCm39) missense possibly damaging 0.62
R5699:4930486L24Rik UTSW 13 61,001,410 (GRCm39) missense possibly damaging 0.92
R6787:4930486L24Rik UTSW 13 61,000,922 (GRCm39) missense probably benign
R6800:4930486L24Rik UTSW 13 60,992,948 (GRCm39) missense probably damaging 1.00
R7349:4930486L24Rik UTSW 13 60,990,717 (GRCm39) missense possibly damaging 0.52
R7390:4930486L24Rik UTSW 13 60,992,152 (GRCm39) missense probably benign 0.00
R7580:4930486L24Rik UTSW 13 60,993,040 (GRCm39) missense probably damaging 0.97
R7589:4930486L24Rik UTSW 13 60,990,747 (GRCm39) missense probably damaging 1.00
R9304:4930486L24Rik UTSW 13 61,001,352 (GRCm39) missense probably damaging 0.98
R9340:4930486L24Rik UTSW 13 61,001,647 (GRCm39) missense probably benign 0.20
R9485:4930486L24Rik UTSW 13 61,001,059 (GRCm39) missense possibly damaging 0.88
R9489:4930486L24Rik UTSW 13 61,002,683 (GRCm39) missense probably damaging 1.00
R9798:4930486L24Rik UTSW 13 61,000,934 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- CTGCATGCTACTCCAAACTCAG -3'
(R):5'- CATAATTGGGAATACCTTGAGGGG -3'

Sequencing Primer
(F):5'- GCATGCTACTCCAAACTCAGAAAAAG -3'
(R):5'- TACCTTGAGGGGAAGCATGACTTC -3'
Posted On 2017-08-16