Incidental Mutation 'R6559:4930522H14Rik'
ID 521937
Institutional Source Beutler Lab
Gene Symbol 4930522H14Rik
Ensembl Gene ENSMUSG00000060491
Gene Name RIKEN cDNA 4930522H14 gene
Synonyms
MMRRC Submission 044683-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R6559 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 109362534-109388494 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 109363002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 106 (V106I)
Ref Sequence ENSEMBL: ENSMUSP00000099786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082306] [ENSMUST00000102725]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000082306
AA Change: V102I

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080923
Gene: ENSMUSG00000060491
AA Change: V102I

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
low complexity region 84 95 N/A INTRINSIC
low complexity region 124 138 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000102725
AA Change: V106I

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099786
Gene: ENSMUSG00000060491
AA Change: V106I

DomainStartEndE-ValueType
Pfam:DUF4718 6 190 2.1e-105 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 T C 7: 28,606,461 (GRCm39) K284R possibly damaging Het
Adam20 G C 8: 41,249,329 (GRCm39) E480Q probably benign Het
Cdkl3 A G 11: 51,916,696 (GRCm39) T275A probably benign Het
Dync2h1 A G 9: 7,139,501 (GRCm39) I1378T possibly damaging Het
Fam186a A G 15: 99,842,356 (GRCm39) I1296T possibly damaging Het
Fbf1 G A 11: 116,046,272 (GRCm39) T193M probably benign Het
Fcrl1 A G 3: 87,298,560 (GRCm39) I352V probably benign Het
Ifit3 T C 19: 34,564,514 (GRCm39) F20S probably damaging Het
Klhl3 G A 13: 58,164,290 (GRCm39) R431W probably damaging Het
Lipi A G 16: 75,337,982 (GRCm39) V464A probably benign Het
Lrp6 T C 6: 134,490,217 (GRCm39) I120M probably damaging Het
Mst1r A G 9: 107,785,470 (GRCm39) N376S possibly damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Ncoa2 G A 1: 13,220,841 (GRCm39) probably null Het
Odad2 T C 18: 7,223,664 (GRCm39) T460A probably damaging Het
Or6c215 A T 10: 129,637,533 (GRCm39) I287N probably damaging Het
Or8c10 A G 9: 38,279,052 (GRCm39) Y60C probably damaging Het
Teddm1a A T 1: 153,768,111 (GRCm39) I192F probably benign Het
Tnfaip3 A G 10: 18,882,996 (GRCm39) S190P probably damaging Het
Ttc3 T C 16: 94,223,208 (GRCm39) probably null Het
Zfp112 C T 7: 23,825,888 (GRCm39) Q619* probably null Het
Zscan4-ps3 A G 7: 11,344,339 (GRCm39) E99G probably damaging Het
Other mutations in 4930522H14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0363:4930522H14Rik UTSW 4 109,381,520 (GRCm39) missense probably null
R1460:4930522H14Rik UTSW 4 109,388,407 (GRCm39) critical splice donor site probably null
R1489:4930522H14Rik UTSW 4 109,362,654 (GRCm39) missense possibly damaging 0.57
R1647:4930522H14Rik UTSW 4 109,362,768 (GRCm39) missense probably damaging 0.97
R5481:4930522H14Rik UTSW 4 109,362,759 (GRCm39) missense probably damaging 0.97
R5658:4930522H14Rik UTSW 4 109,362,644 (GRCm39) missense probably damaging 0.99
R7387:4930522H14Rik UTSW 4 109,362,774 (GRCm39) missense probably damaging 0.99
R7838:4930522H14Rik UTSW 4 109,362,776 (GRCm39) missense probably damaging 0.99
R8193:4930522H14Rik UTSW 4 109,381,529 (GRCm39) missense probably benign
R9731:4930522H14Rik UTSW 4 109,362,918 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGGGAATCCTGGTTTCTAGACAATC -3'
(R):5'- TACCCCTGAAAAGAGCCTTAAG -3'

Sequencing Primer
(F):5'- ATCATCAGTAAGCCAGTCTTCGG -3'
(R):5'- CTTGTCAGCTAAGCATAGTGGCAC -3'
Posted On 2018-06-06