Incidental Mutation 'R4347:4921536K21Rik'
ID 328373
Institutional Source Beutler Lab
Gene Symbol 4921536K21Rik
Ensembl Gene ENSMUSG00000020434
Gene Name RIKEN cDNA 4921536K21 gene
Synonyms
MMRRC Submission 041102-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4347 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 3836088-3845098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3840122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 92 (V92M)
Ref Sequence ENSEMBL: ENSMUSP00000020712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020712]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000020712
AA Change: V92M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik C A 14: 44,408,635 (GRCm39) R66S probably damaging Het
Abca5 A T 11: 110,190,794 (GRCm39) I772N probably damaging Het
Acox1 T C 11: 116,089,487 (GRCm39) N15S probably benign Het
Arhgap28 C T 17: 68,180,137 (GRCm39) V233I probably benign Het
Chil4 T C 3: 106,110,144 (GRCm39) I317V probably benign Het
Dvl3 G A 16: 20,350,049 (GRCm39) R645H possibly damaging Het
Efl1 A T 7: 82,347,174 (GRCm39) M567L probably damaging Het
Gal3st2b C T 1: 93,867,530 (GRCm39) T59I probably damaging Het
Gm7135 T A 1: 97,276,035 (GRCm39) noncoding transcript Het
Gpihbp1 T G 15: 75,470,017 (GRCm39) *124G probably null Het
Igkv10-96 T A 6: 68,609,164 (GRCm39) R44W probably benign Het
Igkv13-84 T A 6: 68,916,760 (GRCm39) I19K probably benign Het
Kcnab1 A G 3: 65,204,896 (GRCm39) probably benign Het
Kif1b C A 4: 149,331,691 (GRCm39) G545C probably damaging Het
Mprip T C 11: 59,650,279 (GRCm39) S1328P possibly damaging Het
Nrp1 T C 8: 129,207,472 (GRCm39) probably null Het
Olfml1 C T 7: 107,167,040 (GRCm39) P23L probably benign Het
Plekhh2 G A 17: 84,927,130 (GRCm39) A1457T probably benign Het
Prr27 A G 5: 87,990,531 (GRCm39) I40V possibly damaging Het
Slc25a54 A G 3: 109,010,055 (GRCm39) T185A possibly damaging Het
Srek1 C T 13: 103,885,267 (GRCm39) G396D probably null Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Trim3 C T 7: 105,268,594 (GRCm39) G120D probably damaging Het
Usp5 T A 6: 124,798,158 (GRCm39) Q409L probably damaging Het
Vim T G 2: 13,580,329 (GRCm39) probably benign Het
Other mutations in 4921536K21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0348:4921536K21Rik UTSW 11 3,844,987 (GRCm39) missense probably benign 0.19
R1869:4921536K21Rik UTSW 11 3,840,067 (GRCm39) missense probably damaging 0.99
R2297:4921536K21Rik UTSW 11 3,840,127 (GRCm39) missense probably damaging 0.99
R4482:4921536K21Rik UTSW 11 3,845,008 (GRCm39) missense possibly damaging 0.90
R4595:4921536K21Rik UTSW 11 3,840,052 (GRCm39) missense probably benign 0.09
R6989:4921536K21Rik UTSW 11 3,840,076 (GRCm39) missense probably damaging 0.99
R7772:4921536K21Rik UTSW 11 3,839,784 (GRCm39) splice site probably null
R8274:4921536K21Rik UTSW 11 3,844,964 (GRCm39) missense possibly damaging 0.94
R8921:4921536K21Rik UTSW 11 3,844,933 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- TCCACCCCAGGCTACATAGG -3'
(R):5'- TCCTCTGAAAATGAGAAAACCACTT -3'

Sequencing Primer
(F):5'- GGCTACATAGGCAACCCG -3'
(R):5'- TGGCTCACAGTAAGTTCCAG -3'
Posted On 2015-07-07