Incidental Mutation 'R7918:A330070K13Rik'
ID 648181
Institutional Source Beutler Lab
Gene Symbol A330070K13Rik
Ensembl Gene ENSMUSG00000052014
Gene Name RIKEN cDNA A330070K13 gene
Synonyms LOC381673
MMRRC Submission 045966-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R7918 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 130407692-130413472 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 130413269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 30 (T30I)
Ref Sequence ENSEMBL: ENSMUSP00000067580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063656] [ENSMUST00000086029] [ENSMUST00000202728]
AlphaFold Q8CA53
Predicted Effect unknown
Transcript: ENSMUST00000063656
AA Change: T30I
Predicted Effect probably benign
Transcript: ENSMUST00000086029
SMART Domains Protein: ENSMUSP00000083193
Gene: ENSMUSG00000060371

DomainStartEndE-ValueType
EFh 82 110 2.98e-9 SMART
EFh 118 146 2.06e-3 SMART
low complexity region 195 204 N/A INTRINSIC
transmembrane domain 234 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202728
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 A G 12: 81,607,378 (GRCm39) V128A possibly damaging Het
Adam26a T C 8: 44,022,566 (GRCm39) Y308C probably damaging Het
Adam26b A G 8: 43,974,138 (GRCm39) V288A probably benign Het
Ankrd29 A C 18: 12,428,979 (GRCm39) L30R probably damaging Het
Bank1 A G 3: 135,799,123 (GRCm39) I406T probably damaging Het
Cacna1g A G 11: 94,334,856 (GRCm39) I817T probably benign Het
Catsperd T C 17: 56,938,564 (GRCm39) F31L probably benign Het
Cep164 A G 9: 45,690,986 (GRCm39) probably null Het
Clca4b T C 3: 144,619,033 (GRCm39) Y702C probably damaging Het
Clstn1 A G 4: 149,728,508 (GRCm39) I655V probably damaging Het
Dock1 A G 7: 134,747,147 (GRCm39) E1486G probably damaging Het
Epha8 A G 4: 136,661,877 (GRCm39) F573L probably benign Het
Exoc1 A G 5: 76,691,840 (GRCm39) N323S probably benign Het
Exoc6b C T 6: 85,046,332 (GRCm39) R19Q probably damaging Het
Gcsam T C 16: 45,440,502 (GRCm39) *182R probably null Het
Ighv9-2 T C 12: 114,072,911 (GRCm39) I21V probably benign Het
Ints2 G A 11: 86,113,043 (GRCm39) T825M probably damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lad1 A G 1: 135,757,454 (GRCm39) T398A probably benign Het
Lrfn2 T C 17: 49,378,212 (GRCm39) V431A probably damaging Het
Mast2 T C 4: 116,292,732 (GRCm39) I79M possibly damaging Het
Nup107 A G 10: 117,617,905 (GRCm39) V171A probably benign Het
Or1e1c T C 11: 73,265,923 (GRCm39) F119S probably damaging Het
Or8b101 T A 9: 38,020,103 (GRCm39) Y35* probably null Het
Or8g37 C A 9: 39,731,406 (GRCm39) T157K probably damaging Het
Pde4dip T A 3: 97,622,539 (GRCm39) K1557* probably null Het
Plat C T 8: 23,263,655 (GRCm39) P185S probably damaging Het
Plcg1 T G 2: 160,595,585 (GRCm39) V511G probably damaging Het
Plxnb3 C T X: 72,811,251 (GRCm39) A1258V probably benign Het
Rnf223 T C 4: 156,217,240 (GRCm39) V205A probably benign Het
Slc13a1 G C 6: 24,118,065 (GRCm39) T224R probably benign Het
Slc39a10 T A 1: 46,874,912 (GRCm39) H130L possibly damaging Het
Sucnr1 T A 3: 59,993,790 (GRCm39) I106N probably damaging Het
Syde2 T C 3: 145,708,170 (GRCm39) probably null Het
Syne1 T C 10: 5,309,078 (GRCm39) I644V possibly damaging Het
Tbc1d8 A C 1: 39,441,809 (GRCm39) F261C probably damaging Het
Tmem132e A G 11: 82,336,116 (GRCm39) Y1066C probably damaging Het
Trip12 A C 1: 84,722,784 (GRCm39) I1322S probably damaging Het
Tsnaxip1 A G 8: 106,571,167 (GRCm39) I676V probably benign Het
Vmn1r231 A T 17: 21,110,236 (GRCm39) Y226* probably null Het
Vmn2r63 G C 7: 42,552,955 (GRCm39) A767G probably damaging Het
Wdr5b A G 16: 35,862,192 (GRCm39) T104A probably damaging Het
Zbed5 T C 5: 129,930,504 (GRCm39) V151A possibly damaging Het
Zc3h7b T C 15: 81,653,189 (GRCm39) F31S probably damaging Het
Zfp874b A T 13: 67,622,279 (GRCm39) C340S possibly damaging Het
Zmym4 T A 4: 126,804,797 (GRCm39) probably null Het
Other mutations in A330070K13Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02929:A330070K13Rik APN 5 130,413,252 (GRCm39) splice site probably null
R1395:A330070K13Rik UTSW 5 130,407,982 (GRCm39) intron probably benign
R5369:A330070K13Rik UTSW 5 130,407,932 (GRCm39) intron probably benign
R9342:A330070K13Rik UTSW 5 130,407,876 (GRCm39) missense unknown
R9659:A330070K13Rik UTSW 5 130,407,876 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TACAGTGACCATGCTCAAGC -3'
(R):5'- GGCTAGAGACCCAATTTGAAGG -3'

Sequencing Primer
(F):5'- GCTCAAGCAACCCTCTCAG -3'
(R):5'- CCCAATTTGAAGGGTGCTGC -3'
Posted On 2020-09-15