Incidental Mutation 'R0798:2010315B03Rik'
ID 76493
Institutional Source Beutler Lab
Gene Symbol 2010315B03Rik
Ensembl Gene ENSMUSG00000074829
Gene Name RIKEN cDNA 2010315B03 gene
Synonyms
MMRRC Submission 038978-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R0798 (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: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 100% (30/30)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik T A 9: 89,034,880 (GRCm39) noncoding transcript Het
Baz2a T A 10: 127,962,192 (GRCm39) probably benign Het
Bcar3 T C 3: 122,318,948 (GRCm39) V695A probably benign Het
C130074G19Rik G A 1: 184,614,873 (GRCm39) probably benign Het
Cmas T C 6: 142,710,382 (GRCm39) V167A probably damaging Het
Crppa G A 12: 36,571,998 (GRCm39) R302H probably benign Het
Cyp3a25 T C 5: 145,928,343 (GRCm39) E234G probably damaging Het
Gopc C T 10: 52,234,907 (GRCm39) G79S probably damaging Het
Herc2 T A 7: 55,785,431 (GRCm39) probably null Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kcnq5 A G 1: 22,031,399 (GRCm39) probably null Het
Lpp G T 16: 24,790,622 (GRCm39) G29* probably null Het
Ly6g6e T C 17: 35,297,017 (GRCm39) F86S probably benign Het
Myo5c T C 9: 75,165,266 (GRCm39) F358S probably damaging Het
Nlgn1 A G 3: 25,488,410 (GRCm39) Y613H probably benign Het
Or4k38 T C 2: 111,165,689 (GRCm39) I245V probably benign Het
Or7e178 A T 9: 20,225,495 (GRCm39) Y232* probably null Het
Plekhn1 T A 4: 156,312,720 (GRCm39) D46V probably damaging Het
Ptp4a1 A T 1: 30,984,005 (GRCm39) probably benign Het
Rab23 A T 1: 33,773,908 (GRCm39) I123F probably damaging Het
Samd4b G A 7: 28,101,048 (GRCm39) probably benign Het
Shisa4 G A 1: 135,300,886 (GRCm39) probably benign Het
Slc39a11 C T 11: 113,414,330 (GRCm39) A90T probably benign Het
Tas1r2 T C 4: 139,397,024 (GRCm39) Y788H probably damaging Het
Tasor T A 14: 27,198,593 (GRCm39) F1308L probably damaging Het
Tial1 C T 7: 128,045,602 (GRCm39) M327I probably benign Het
Ubr2 C T 17: 47,280,102 (GRCm39) probably benign Het
Utp4 T C 8: 107,648,858 (GRCm39) S630P probably benign Het
Vmn1r212 T C 13: 23,067,868 (GRCm39) N155S probably damaging Het
Zmym6 C T 4: 126,997,316 (GRCm39) P312S probably benign 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
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
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 2013-10-16