Incidental Mutation 'R4307:1500009L16Rik'
ID 324066
Institutional Source Beutler Lab
Gene Symbol 1500009L16Rik
Ensembl Gene ENSMUSG00000087651
Gene Name RIKEN cDNA 1500009L16 gene
Synonyms
MMRRC Submission 041658-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4307 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 83558729-83598626 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 83573792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 22 (K22N)
Ref Sequence ENSEMBL: ENSMUSP00000129542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000150459]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000150459
AA Change: K22N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129542
Gene: ENSMUSG00000087651
AA Change: K22N

DomainStartEndE-ValueType
Pfam:OCC1 1 62 4.3e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218196
Predicted Effect unknown
Transcript: ENSMUST00000218623
AA Change: K6N
Meta Mutation Damage Score 0.0835 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik C A 1: 12,042,300 (GRCm39) S440* probably null Het
Asap2 T C 12: 21,279,482 (GRCm39) I426T probably damaging Het
Ccr5 T C 9: 123,925,111 (GRCm39) L238P possibly damaging Het
Cfap157 G A 2: 32,669,054 (GRCm39) R350W probably damaging Het
Efemp2 T A 19: 5,531,649 (GRCm39) Y430N possibly damaging Het
Egf T A 3: 129,512,744 (GRCm39) Y473F probably damaging Het
Emilin3 T C 2: 160,750,237 (GRCm39) E504G probably damaging Het
Fcsk G A 8: 111,618,712 (GRCm39) Q349* probably null Het
Frmd4a C T 2: 4,337,889 (GRCm39) R32C probably benign Het
Gm20939 A T 17: 95,184,162 (GRCm39) Y270F possibly damaging Het
Gpbp1 T C 13: 111,585,517 (GRCm39) *68W probably null Het
Gpm6a T C 8: 55,500,428 (GRCm39) probably null Het
Inpp5a T C 7: 139,154,879 (GRCm39) S333P possibly damaging Het
Itgb5 T G 16: 33,769,102 (GRCm39) Y481D possibly damaging Het
Kif27 C T 13: 58,491,937 (GRCm39) V401I probably benign Het
Lca5l C T 16: 95,960,756 (GRCm39) probably benign Het
Mrtfa G A 15: 80,900,548 (GRCm39) L648F possibly damaging Het
Plxna4 A G 6: 32,140,444 (GRCm39) V1648A probably damaging Het
Polk C T 13: 96,633,174 (GRCm39) E290K possibly damaging Het
Prr27 A G 5: 87,990,766 (GRCm39) H126R probably benign Het
Scn7a A T 2: 66,506,099 (GRCm39) S1597T possibly damaging Het
Slc5a11 T A 7: 122,869,093 (GRCm39) H560Q probably benign Het
Top3b T C 16: 16,707,481 (GRCm39) probably benign Het
Unc13c T C 9: 73,600,649 (GRCm39) N1365S probably benign Het
Vmn2r101 T A 17: 19,810,423 (GRCm39) V403E probably damaging Het
Vmn2r12 A G 5: 109,233,872 (GRCm39) L780P probably damaging Het
Vmn2r28 A T 7: 5,493,707 (GRCm39) F80I probably damaging Het
Other mutations in 1500009L16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0483:1500009L16Rik UTSW 10 83,595,502 (GRCm39) splice site probably benign
R3416:1500009L16Rik UTSW 10 83,595,496 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCATGCACGCACAGATTCAC -3'
(R):5'- AATCTCTGCACAGGTTGGGG -3'

Sequencing Primer
(F):5'- TGCACGCACAGATTCACACATG -3'
(R):5'- TCTAAGCTAGCATGCCAGGGTAAC -3'
Posted On 2015-06-24