Incidental Mutation 'R0140:2010315B03Rik'
ID 22264
Institutional Source Beutler Lab
Gene Symbol 2010315B03Rik
Ensembl Gene ENSMUSG00000074829
Gene Name RIKEN cDNA 2010315B03 gene
Synonyms
MMRRC Submission 038425-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R0140 (G1)
Quality Score 222
Status Not validated
Chromosome 9
Chromosomal Location 124054434-124075326 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 124057789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071300] [ENSMUST00000177714] [ENSMUST00000185949] [ENSMUST00000189915]
AlphaFold J3QK55
Predicted Effect probably benign
Transcript: ENSMUST00000071300
SMART Domains Protein: ENSMUSP00000071269
Gene: ENSMUSG00000074829

DomainStartEndE-ValueType
KRAB 24 86 5.28e-14 SMART
ZnF_C2H2 95 117 5.9e-3 SMART
ZnF_C2H2 123 145 1.26e-2 SMART
ZnF_C2H2 151 173 2.95e-3 SMART
ZnF_C2H2 179 201 4.24e-4 SMART
ZnF_C2H2 207 229 1.38e-3 SMART
ZnF_C2H2 235 257 3.21e-4 SMART
ZnF_C2H2 263 285 1.26e-2 SMART
ZnF_C2H2 291 312 6.08e0 SMART
ZnF_C2H2 318 340 8.6e-5 SMART
ZnF_C2H2 346 368 1.36e-2 SMART
ZnF_C2H2 374 396 8.02e-5 SMART
ZnF_C2H2 402 424 9.58e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177714
SMART Domains Protein: ENSMUSP00000137258
Gene: ENSMUSG00000074829

DomainStartEndE-ValueType
KRAB 28 90 5.28e-14 SMART
ZnF_C2H2 99 121 5.9e-3 SMART
ZnF_C2H2 127 149 1.26e-2 SMART
ZnF_C2H2 155 177 2.95e-3 SMART
ZnF_C2H2 183 205 4.24e-4 SMART
ZnF_C2H2 211 233 1.38e-3 SMART
ZnF_C2H2 239 261 3.21e-4 SMART
ZnF_C2H2 267 289 1.26e-2 SMART
ZnF_C2H2 295 316 6.08e0 SMART
ZnF_C2H2 322 344 8.6e-5 SMART
ZnF_C2H2 350 372 1.36e-2 SMART
ZnF_C2H2 378 400 8.02e-5 SMART
ZnF_C2H2 406 428 9.58e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185949
SMART Domains Protein: ENSMUSP00000140144
Gene: ENSMUSG00000074829

DomainStartEndE-ValueType
KRAB 29 91 2.3e-16 SMART
ZnF_C2H2 100 122 2.5e-5 SMART
ZnF_C2H2 128 150 5.3e-5 SMART
ZnF_C2H2 156 175 5.1e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189915
SMART Domains Protein: ENSMUSP00000140738
Gene: ENSMUSG00000074829

DomainStartEndE-ValueType
KRAB 1 63 2.3e-16 SMART
ZnF_C2H2 72 94 2.5e-5 SMART
ZnF_C2H2 100 122 5.3e-5 SMART
ZnF_C2H2 128 150 1.2e-5 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 98% (79/81)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330161L09Rik T C 12: 103,373,587 (GRCm39) probably benign Het
Abca2 T G 2: 25,328,097 (GRCm39) probably null Het
Adgrf3 T C 5: 30,401,379 (GRCm39) K13R probably benign Het
Arhgap15 C A 2: 44,212,779 (GRCm39) F416L probably damaging Het
Arhgef26 C G 3: 62,355,666 (GRCm39) T746R probably benign Het
Aspm C T 1: 139,408,379 (GRCm39) T2422I probably benign Het
Atp4a C G 7: 30,419,526 (GRCm39) R659G probably benign Het
AY358078 T A 14: 52,063,399 (GRCm39) D348E probably benign Het
Blnk A T 19: 40,928,668 (GRCm39) S285T probably damaging Het
Calr3 C T 8: 73,188,732 (GRCm39) probably benign Het
Camsap2 A T 1: 136,208,120 (GRCm39) V1124D probably benign Het
Ccdc40 G A 11: 119,155,125 (GRCm39) G1122S probably benign Het
Ccdc69 C A 11: 54,941,325 (GRCm39) C196F possibly damaging Het
Cdhr3 T G 12: 33,130,412 (GRCm39) N141T probably benign Het
Cdk4 T C 10: 126,900,214 (GRCm39) V37A probably damaging Het
Celsr2 C T 3: 108,305,249 (GRCm39) R2110K probably benign Het
Clcn7 A G 17: 25,372,728 (GRCm39) Y437C probably damaging Het
Col6a6 A G 9: 105,579,474 (GRCm39) F1917S probably damaging Het
Cps1 T G 1: 67,219,275 (GRCm39) S872A probably benign Het
Crebbp G T 16: 3,935,363 (GRCm39) T842N probably damaging Het
Dennd2d G A 3: 106,399,799 (GRCm39) V234I probably benign Het
Fam227b T C 2: 125,966,523 (GRCm39) M130V possibly damaging Het
Fbxw24 G T 9: 109,434,482 (GRCm39) L373I possibly damaging Het
Fubp3 T C 2: 31,498,196 (GRCm39) Y359H probably damaging Het
Gm19684 T C 17: 36,438,319 (GRCm39) probably benign Het
Hrnr C T 3: 93,238,800 (GRCm39) Q3013* probably null Het
Il12rb1 T C 8: 71,272,415 (GRCm39) probably benign Het
Lepr A T 4: 101,625,264 (GRCm39) D473V probably damaging Het
Myof A T 19: 37,940,004 (GRCm39) Y820* probably null Het
Nfil3 G A 13: 53,121,681 (GRCm39) Q408* probably null Het
Nolc1 G A 19: 46,069,817 (GRCm39) probably benign Het
Npbwr1 A C 1: 5,986,840 (GRCm39) Y225D probably damaging Het
Nrip3 T C 7: 109,361,022 (GRCm39) probably benign Het
Ntrk1 A C 3: 87,685,875 (GRCm39) L749R probably damaging Het
Or10ag53 A G 2: 87,082,969 (GRCm39) I229M probably damaging Het
Or2b11 A G 11: 59,461,804 (GRCm39) L254P probably damaging Het
Or4c126 T A 2: 89,824,463 (GRCm39) V242D probably damaging Het
Or52a24 A G 7: 103,381,349 (GRCm39) D72G probably damaging Het
Or6c211 G T 10: 129,505,557 (GRCm39) T277N probably damaging Het
Paox A T 7: 139,713,971 (GRCm39) T244S probably damaging Het
Pcdhb9 T A 18: 37,536,014 (GRCm39) D669E possibly damaging Het
Pggt1b A G 18: 46,391,150 (GRCm39) probably null Het
Phkg1 T A 5: 129,893,449 (GRCm39) I334F probably benign Het
Phtf1 A T 3: 103,894,876 (GRCm39) R208W probably null Het
Pnliprp2 A T 19: 58,754,795 (GRCm39) I280F probably benign Het
Pnma8a A G 7: 16,694,147 (GRCm39) M1V probably null Het
Prcp A G 7: 92,577,819 (GRCm39) T328A probably damaging Het
Pxdn A G 12: 30,032,753 (GRCm39) E179G probably benign Het
Racgap1 A T 15: 99,521,532 (GRCm39) N541K probably benign Het
Rnf103 T A 6: 71,486,315 (GRCm39) F315L possibly damaging Het
Septin2 A G 1: 93,429,361 (GRCm39) R237G probably damaging Het
Setd6 T A 8: 96,442,737 (GRCm39) L58Q probably damaging Het
Sipa1l1 G A 12: 82,442,974 (GRCm39) V755I probably damaging Het
Slc16a12 G T 19: 34,650,104 (GRCm39) probably benign Het
Slk G A 19: 47,610,774 (GRCm39) D815N probably damaging Het
Stx1a T C 5: 135,074,439 (GRCm39) probably benign Het
Tbc1d15 T A 10: 115,056,124 (GRCm39) I283F probably damaging Het
Tenm4 T C 7: 96,545,259 (GRCm39) I2425T possibly damaging Het
Tle1 G A 4: 72,038,422 (GRCm39) H702Y probably damaging Het
Tmc6 A G 11: 117,657,077 (GRCm39) probably benign Het
Tmem268 G A 4: 63,496,096 (GRCm39) R179H possibly damaging Het
Tmem9 A G 1: 135,961,900 (GRCm39) K165R probably damaging Het
Trpm6 A G 19: 18,796,558 (GRCm39) probably null Het
Tufm C T 7: 126,089,003 (GRCm39) P88S probably damaging Het
Ubqln1 A G 13: 58,341,103 (GRCm39) I216T probably damaging Het
Urad T G 5: 147,259,141 (GRCm39) M1L probably benign Het
Utp6 A G 11: 79,847,551 (GRCm39) probably benign Het
Vav2 C T 2: 27,163,688 (GRCm39) probably benign Het
Vmn2r55 G T 7: 12,402,104 (GRCm39) Q395K possibly damaging Het
Wwox T G 8: 115,433,027 (GRCm39) V231G probably damaging Het
Zfp646 T A 7: 127,482,678 (GRCm39) N1618K probably benign Het
Zzef1 G A 11: 72,790,377 (GRCm39) M2110I possibly damaging Het
Other mutations in 2010315B03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01872:2010315B03Rik APN 9 124,058,120 (GRCm39) splice site probably benign
P4748:2010315B03Rik UTSW 9 124,057,789 (GRCm39) critical splice acceptor site probably benign
R0090:2010315B03Rik UTSW 9 124,057,789 (GRCm39) critical splice acceptor site probably benign
R0122:2010315B03Rik UTSW 9 124,057,789 (GRCm39) critical splice acceptor site probably benign
R0164:2010315B03Rik UTSW 9 124,057,789 (GRCm39) critical splice acceptor site probably benign
R0164:2010315B03Rik UTSW 9 124,057,789 (GRCm39) critical splice acceptor site probably benign
R0388:2010315B03Rik UTSW 9 124,057,789 (GRCm39) critical splice acceptor site probably benign
R0775:2010315B03Rik UTSW 9 124,057,789 (GRCm39) critical splice acceptor site probably benign
R0798:2010315B03Rik UTSW 9 124,057,789 (GRCm39) critical splice acceptor site probably benign
R1467:2010315B03Rik UTSW 9 124,058,093 (GRCm39) missense possibly damaging 0.91
R1569:2010315B03Rik UTSW 9 124,056,427 (GRCm39) nonsense probably null
R2566:2010315B03Rik UTSW 9 124,055,783 (GRCm39) missense probably damaging 0.99
R2566:2010315B03Rik UTSW 9 124,055,701 (GRCm39) missense probably damaging 0.97
R3853:2010315B03Rik UTSW 9 124,055,976 (GRCm39) missense probably damaging 1.00
R4092:2010315B03Rik UTSW 9 124,055,903 (GRCm39) missense probably benign 0.03
R4109:2010315B03Rik UTSW 9 124,057,733 (GRCm39) missense probably benign 0.01
R4646:2010315B03Rik UTSW 9 124,056,228 (GRCm39) missense probably benign 0.00
R4648:2010315B03Rik UTSW 9 124,056,228 (GRCm39) missense probably benign 0.00
R4705:2010315B03Rik UTSW 9 124,056,631 (GRCm39) missense possibly damaging 0.86
R4764:2010315B03Rik UTSW 9 124,056,396 (GRCm39) missense probably benign 0.01
R5110:2010315B03Rik UTSW 9 124,057,987 (GRCm39) critical splice donor site probably null
R5117:2010315B03Rik UTSW 9 124,055,715 (GRCm39) missense probably benign 0.00
R5162:2010315B03Rik UTSW 9 124,056,301 (GRCm39) missense probably benign 0.08
R5226:2010315B03Rik UTSW 9 124,056,706 (GRCm39) missense possibly damaging 0.91
R5426:2010315B03Rik UTSW 9 124,056,633 (GRCm39) missense probably damaging 1.00
R6793:2010315B03Rik UTSW 9 124,058,052 (GRCm39) missense possibly damaging 0.85
R6975:2010315B03Rik UTSW 9 124,056,687 (GRCm39) missense probably benign 0.02
R7213:2010315B03Rik UTSW 9 124,056,530 (GRCm39) nonsense probably null
R8011:2010315B03Rik UTSW 9 124,056,529 (GRCm39) missense
R8086:2010315B03Rik UTSW 9 124,055,808 (GRCm39) missense
R8117:2010315B03Rik UTSW 9 124,058,078 (GRCm39) missense
R8363:2010315B03Rik UTSW 9 124,055,800 (GRCm39) missense
R8941:2010315B03Rik UTSW 9 124,056,679 (GRCm39) missense probably benign 0.05
R9523:2010315B03Rik UTSW 9 124,056,652 (GRCm39) missense
Predicted Primers
Posted On 2013-04-16