Incidental Mutation 'R1079:2200002J24Rik'
ID 85781
Institutional Source Beutler Lab
Gene Symbol 2200002J24Rik
Ensembl Gene ENSMUSG00000013083
Gene Name RIKEN cDNA 2200002J24 gene
Synonyms
MMRRC Submission 039165-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R1079 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 30398351-30399961 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 30399209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000013227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013227]
AlphaFold Q9D807
Predicted Effect probably null
Transcript: ENSMUST00000013227
AA Change: M1T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000013227
Gene: ENSMUSG00000013083
AA Change: M1T

DomainStartEndE-ValueType
Pfam:CD225 32 103 5.5e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207260
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207565
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 98% (46/47)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T C 8: 41,208,513 (GRCm39) V593A possibly damaging Het
Agrn C T 4: 156,261,682 (GRCm39) C536Y probably damaging Het
Amigo3 T C 9: 107,931,051 (GRCm39) M158T probably benign Het
Arsa G A 15: 89,358,428 (GRCm39) probably benign Het
Baz1a T A 12: 54,941,785 (GRCm39) I1474L possibly damaging Het
Cfap144 A G 11: 58,692,620 (GRCm39) Y36H probably benign Het
Cfap65 A G 1: 74,944,872 (GRCm39) V1455A probably damaging Het
Cfap65 G A 1: 74,941,606 (GRCm39) A1776V probably damaging Het
Cnot6 G T 11: 49,575,930 (GRCm39) D176E probably benign Het
Crot A T 5: 9,043,504 (GRCm39) probably null Het
Cryba2 A T 1: 74,929,717 (GRCm39) V140E probably damaging Het
Dennd4b G A 3: 90,178,485 (GRCm39) R516K probably benign Het
Dst C A 1: 34,225,944 (GRCm39) T1697N possibly damaging Het
Eftud2 G T 11: 102,730,870 (GRCm39) Y837* probably null Het
Evpl G T 11: 116,120,894 (GRCm39) T447K possibly damaging Het
Fndc3a A T 14: 72,827,247 (GRCm39) M146K possibly damaging Het
Folh1 G T 7: 86,421,089 (GRCm39) T80K probably damaging Het
Gm4922 T A 10: 18,660,086 (GRCm39) Y212F probably damaging Het
Gtf2i T G 5: 134,271,748 (GRCm39) probably benign Het
Hipk3 A G 2: 104,302,043 (GRCm39) F50L probably benign Het
Ifit1bl2 T A 19: 34,596,885 (GRCm39) T244S probably benign Het
Ikzf2 T C 1: 69,578,264 (GRCm39) D341G possibly damaging Het
Kif3a G C 11: 53,461,408 (GRCm39) V17L possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lzts2 T A 19: 45,011,983 (GRCm39) N137K probably damaging Het
Mphosph8 T A 14: 56,911,716 (GRCm39) D246E probably damaging Het
Myh14 T C 7: 44,279,426 (GRCm39) E918G probably damaging Het
N6amt1 T C 16: 87,153,086 (GRCm39) V52A probably damaging Het
Npr2 A C 4: 43,643,654 (GRCm39) T561P probably damaging Het
Nudt12 G A 17: 59,318,032 (GRCm39) probably benign Het
Or10ad1 A C 15: 98,106,223 (GRCm39) V14G probably damaging Het
Or5w8 A G 2: 87,687,699 (GRCm39) Y60C probably damaging Het
Or6n2 A T 1: 173,897,032 (GRCm39) H56L possibly damaging Het
Or8k22 T A 2: 86,163,185 (GRCm39) R172W probably damaging Het
Pan2 A G 10: 128,154,107 (GRCm39) T1050A probably damaging Het
Rad17 G T 13: 100,770,407 (GRCm39) D213E probably benign Het
Sall2 T A 14: 52,550,660 (GRCm39) H843L probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sema3e A T 5: 14,275,669 (GRCm39) N258I probably benign Het
Siglec1 G A 2: 130,921,297 (GRCm39) R625* probably null Het
Slc15a3 T C 19: 10,833,344 (GRCm39) S454P probably benign Het
Sp110 G A 1: 85,516,825 (GRCm39) probably benign Het
Spatc1l T C 10: 76,399,741 (GRCm39) S88P probably damaging Het
Ssh3 A C 19: 4,316,577 (GRCm39) L143R probably damaging Het
Ttn C T 2: 76,587,340 (GRCm39) probably benign Het
Vps35 A G 8: 86,005,683 (GRCm39) L306S probably damaging Het
Zfp729a T C 13: 67,767,794 (GRCm39) I812V possibly damaging Het
Other mutations in 2200002J24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02718:2200002J24Rik APN 7 30,399,329 (GRCm39) missense probably damaging 1.00
R7650:2200002J24Rik UTSW 7 30,399,214 (GRCm39) missense probably benign 0.00
R7793:2200002J24Rik UTSW 7 30,399,368 (GRCm39) missense probably damaging 0.96
R9774:2200002J24Rik UTSW 7 30,399,261 (GRCm39) missense possibly damaging 0.88
Z1186:2200002J24Rik UTSW 7 30,399,215 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCATGAAGGTGTGGTGGACTCCAG -3'
(R):5'- TGGAATCGCCAGCAGGATGCAG -3'

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