Incidental Mutation 'R1069:4921524L21Rik'
ID 86140
Institutional Source Beutler Lab
Gene Symbol 4921524L21Rik
Ensembl Gene ENSMUSG00000039540
Gene Name RIKEN cDNA 4921524L21 gene
Synonyms
MMRRC Submission 039155-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R1069 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 6603629-6638970 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6624037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 106 (N106S)
Ref Sequence ENSEMBL: ENSMUSP00000035514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044829]
AlphaFold Q9D5T2
Predicted Effect probably benign
Transcript: ENSMUST00000044829
AA Change: N106S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000035514
Gene: ENSMUSG00000039540
AA Change: N106S

DomainStartEndE-ValueType
Pfam:DUF3496 131 235 6.9e-12 PFAM
coiled coil region 269 292 N/A INTRINSIC
low complexity region 408 419 N/A INTRINSIC
Meta Mutation Damage Score 0.0621 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.4%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c21 C A 13: 4,625,333 (GRCm39) probably benign Het
Alpk2 G A 18: 65,438,085 (GRCm39) R1570C probably benign Het
Atp8b3 G A 10: 80,366,852 (GRCm39) R249C probably damaging Het
Cacnb4 C A 2: 52,345,623 (GRCm39) R252I probably damaging Het
Cars1 T C 7: 143,123,844 (GRCm39) T480A probably benign Het
Ccnf A T 17: 24,442,971 (GRCm39) C745* probably null Het
Ccr8 A G 9: 119,923,283 (GRCm39) I133V probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Dgkq T C 5: 108,803,903 (GRCm39) probably benign Het
Ecd A G 14: 20,383,504 (GRCm39) C312R probably damaging Het
Eddm13 A T 7: 6,258,921 (GRCm39) probably null Het
Gstm1 T C 3: 107,920,064 (GRCm39) S226G probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hacd4 T A 4: 88,355,739 (GRCm39) I49L probably damaging Het
Hid1 T C 11: 115,247,591 (GRCm39) N269S probably damaging Het
Ifitm3 A T 7: 140,589,813 (GRCm39) probably benign Het
Kctd9 C T 14: 67,966,869 (GRCm39) probably benign Het
Kif20b T C 19: 34,928,251 (GRCm39) L1131P probably damaging Het
Kif2c T C 4: 117,035,350 (GRCm39) T33A probably damaging Het
Lipc T C 9: 70,730,819 (GRCm39) T38A probably benign Het
Lrguk A C 6: 34,025,818 (GRCm39) I205L possibly damaging Het
Mir100hg G A 9: 41,501,594 (GRCm39) R151H possibly damaging Het
Ncapg T A 5: 45,833,272 (GRCm39) probably benign Het
Ptprd A G 4: 75,916,724 (GRCm39) probably benign Het
Ptprd T A 4: 76,018,870 (GRCm39) K635* probably null Het
Sap130 G A 18: 31,844,682 (GRCm39) V898I probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Svep1 C T 4: 58,070,239 (GRCm39) G2516R probably damaging Het
Tas2r131 C T 6: 132,934,788 (GRCm39) R7K probably benign Het
Tfpi A G 2: 84,284,136 (GRCm39) probably benign Het
Trim80 T C 11: 115,338,909 (GRCm39) C580R probably damaging Het
Ttn T A 2: 76,800,273 (GRCm39) I312F unknown Het
Other mutations in 4921524L21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:4921524L21Rik APN 18 6,629,578 (GRCm39) missense possibly damaging 0.93
IGL01402:4921524L21Rik APN 18 6,638,653 (GRCm39) missense possibly damaging 0.65
IGL01404:4921524L21Rik APN 18 6,638,653 (GRCm39) missense possibly damaging 0.65
IGL02680:4921524L21Rik APN 18 6,635,949 (GRCm39) splice site probably benign
PIT4812001:4921524L21Rik UTSW 18 6,630,053 (GRCm39) missense possibly damaging 0.93
R0532:4921524L21Rik UTSW 18 6,638,618 (GRCm39) missense possibly damaging 0.83
R1706:4921524L21Rik UTSW 18 6,624,059 (GRCm39) splice site probably benign
R1768:4921524L21Rik UTSW 18 6,623,470 (GRCm39) missense possibly damaging 0.72
R1912:4921524L21Rik UTSW 18 6,620,205 (GRCm39) missense possibly damaging 0.72
R3820:4921524L21Rik UTSW 18 6,630,166 (GRCm39) critical splice donor site probably null
R3840:4921524L21Rik UTSW 18 6,620,104 (GRCm39) missense probably benign 0.44
R3841:4921524L21Rik UTSW 18 6,620,104 (GRCm39) missense probably benign 0.44
R4201:4921524L21Rik UTSW 18 6,623,952 (GRCm39) critical splice acceptor site probably null
R4852:4921524L21Rik UTSW 18 6,623,488 (GRCm39) missense probably damaging 0.99
R4852:4921524L21Rik UTSW 18 6,623,487 (GRCm39) missense possibly damaging 0.91
R5218:4921524L21Rik UTSW 18 6,629,628 (GRCm39) missense possibly damaging 0.63
R5389:4921524L21Rik UTSW 18 6,638,795 (GRCm39) missense probably benign 0.14
R5428:4921524L21Rik UTSW 18 6,635,918 (GRCm39) missense probably benign 0.04
R5873:4921524L21Rik UTSW 18 6,630,167 (GRCm39) critical splice donor site probably null
R6120:4921524L21Rik UTSW 18 6,638,795 (GRCm39) missense possibly damaging 0.85
R6345:4921524L21Rik UTSW 18 6,626,399 (GRCm39) missense possibly damaging 0.71
R7246:4921524L21Rik UTSW 18 6,635,902 (GRCm39) missense probably damaging 0.98
R7296:4921524L21Rik UTSW 18 6,626,385 (GRCm39) missense probably damaging 0.99
R8796:4921524L21Rik UTSW 18 6,629,482 (GRCm39) missense possibly damaging 0.95
R8897:4921524L21Rik UTSW 18 6,635,934 (GRCm39) missense probably damaging 0.98
R8930:4921524L21Rik UTSW 18 6,629,693 (GRCm39) critical splice donor site probably null
R8932:4921524L21Rik UTSW 18 6,629,693 (GRCm39) critical splice donor site probably null
R8991:4921524L21Rik UTSW 18 6,620,232 (GRCm39) missense probably damaging 0.99
R9108:4921524L21Rik UTSW 18 6,638,794 (GRCm39) missense probably benign 0.04
R9235:4921524L21Rik UTSW 18 6,623,518 (GRCm39) missense possibly damaging 0.96
R9642:4921524L21Rik UTSW 18 6,619,412 (GRCm39) critical splice donor site probably null
Z1177:4921524L21Rik UTSW 18 6,635,865 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTGTGAGCACTACACCTATGTGAGC -3'
(R):5'- TCAGTCAATTTCTGTAAAGCCAGAGGAC -3'

Sequencing Primer
(F):5'- ggggcagggaataagtcag -3'
(R):5'- CTGTAAAGCCAGAGGACTTTCATC -3'
Posted On 2013-11-18