Incidental Mutation 'R0388:2010315B03Rik'
ID 31421
Institutional Source Beutler Lab
Gene Symbol 2010315B03Rik
Ensembl Gene ENSMUSG00000074829
Gene Name RIKEN cDNA 2010315B03 gene
Synonyms
MMRRC Submission 038594-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R0388 (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: 99.0%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.7%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 T C 9: 54,516,347 (GRCm39) K678R probably damaging Het
Adgrg6 A G 10: 14,326,402 (GRCm39) I410T probably benign Het
Afap1l2 A C 19: 56,905,674 (GRCm39) probably benign Het
Aox1 T C 1: 58,393,565 (GRCm39) Y1242H probably damaging Het
Apoo-ps T C 13: 107,551,173 (GRCm39) noncoding transcript Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Cdh3 C A 8: 107,265,761 (GRCm39) T268K probably damaging Het
Chd5 T A 4: 152,456,101 (GRCm39) H923Q probably damaging Het
Chd7 T C 4: 8,854,560 (GRCm39) V1967A probably benign Het
Cntn3 T C 6: 102,254,277 (GRCm39) M222V probably damaging Het
Dcaf17 A G 2: 70,908,915 (GRCm39) K277R probably benign Het
Dmbt1 T C 7: 130,697,779 (GRCm39) probably benign Het
Dmpk T A 7: 18,818,002 (GRCm39) probably benign Het
Dzank1 A T 2: 144,318,026 (GRCm39) L714Q possibly damaging Het
Efcab3 A G 11: 105,000,227 (GRCm39) D272G possibly damaging Het
Erbb2 G C 11: 98,318,177 (GRCm39) R471P possibly damaging Het
Esf1 T A 2: 139,962,791 (GRCm39) Y760F possibly damaging Het
Fanci C A 7: 79,089,378 (GRCm39) T938K probably benign Het
Gnai3 A G 3: 108,023,073 (GRCm39) probably benign Het
Hspg2 T A 4: 137,238,469 (GRCm39) C319S probably damaging Het
Il12a T A 3: 68,602,520 (GRCm39) probably null Het
Inpp4a A G 1: 37,435,241 (GRCm39) D837G probably damaging Het
Kcnj5 T A 9: 32,229,159 (GRCm39) E13V probably damaging Het
Kcnq3 T A 15: 65,871,887 (GRCm39) Y594F probably benign Het
Kif16b T C 2: 142,582,857 (GRCm39) E556G probably damaging Het
Kif28 T C 1: 179,567,654 (GRCm39) I39V possibly damaging Het
Lgi2 T C 5: 52,711,891 (GRCm39) E143G probably damaging Het
Mast1 T G 8: 85,642,166 (GRCm39) I1063L probably benign Het
Med12l T C 3: 59,000,925 (GRCm39) probably benign Het
Mmp19 G T 10: 128,634,752 (GRCm39) R456L probably benign Het
Mon1b T A 8: 114,365,710 (GRCm39) V346E probably damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Mrgpra9 A T 7: 46,902,542 (GRCm39) M1K probably null Het
Mycbp2 A T 14: 103,394,103 (GRCm39) H2819Q probably benign Het
Nav1 A C 1: 135,376,655 (GRCm39) probably benign Het
Neurl4 T C 11: 69,802,559 (GRCm39) probably benign Het
Ntng2 G C 2: 29,097,438 (GRCm39) P341R probably damaging Het
Oas1d A T 5: 121,055,091 (GRCm39) Y221F probably damaging Het
Or1j19 C A 2: 36,676,874 (GRCm39) D112E probably benign Het
Or1l4 A C 2: 37,092,196 (GRCm39) probably null Het
Or5al6 A G 2: 85,976,974 (GRCm39) Y35H probably damaging Het
Osbpl8 A G 10: 111,108,143 (GRCm39) M380V probably benign Het
Pank1 T C 19: 34,799,106 (GRCm39) probably benign Het
Parn T C 16: 13,472,340 (GRCm39) D169G possibly damaging Het
Pknox1 T A 17: 31,822,166 (GRCm39) I311N probably damaging Het
Pprc1 T C 19: 46,051,214 (GRCm39) V248A possibly damaging Het
Prkcq T C 2: 11,259,045 (GRCm39) C322R probably benign Het
Ptpn13 T A 5: 103,702,928 (GRCm39) I1298N probably benign Het
Rab11fip3 A G 17: 26,288,046 (GRCm39) S36P probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sass6 C A 3: 116,400,957 (GRCm39) probably benign Het
Shroom3 G A 5: 93,099,152 (GRCm39) G1463D probably benign Het
Slc35d1 A T 4: 103,042,084 (GRCm39) Y249* probably null Het
Slc9a3 C T 13: 74,269,655 (GRCm39) P8S unknown Het
Slc9a9 T A 9: 94,821,616 (GRCm39) probably null Het
Sting1 A G 18: 35,868,164 (GRCm39) probably null Het
Syne2 T A 12: 76,033,749 (GRCm39) M3666K probably benign Het
Synpo2 A G 3: 122,873,546 (GRCm39) V1140A probably benign Het
Thada A G 17: 84,538,524 (GRCm39) F1495L probably benign Het
Timeless A G 10: 128,077,294 (GRCm39) probably null Het
Tlr6 G T 5: 65,112,548 (GRCm39) H120N possibly damaging Het
Tns3 T C 11: 8,395,703 (GRCm39) I1234V probably benign Het
Ttll9 A G 2: 152,842,099 (GRCm39) S318G probably benign Het
Vps13c T C 9: 67,830,197 (GRCm39) probably benign Het
Zfp933 T C 4: 147,910,899 (GRCm39) I232M probably benign Het
Zfyve27 T C 19: 42,178,024 (GRCm39) S382P probably 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
R0140:2010315B03Rik 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
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 2013-04-24