Incidental Mutation 'R5110:2010315B03Rik'
ID 393810
Institutional Source Beutler Lab
Gene Symbol 2010315B03Rik
Ensembl Gene ENSMUSG00000074829
Gene Name RIKEN cDNA 2010315B03 gene
Synonyms
MMRRC Submission 042698-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R5110 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 124054434-124075326 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 124057987 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 null
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 null
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 null
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 null
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310016G11Rik G A 7: 44,327,286 (GRCm39) noncoding transcript Het
Abi2 G A 1: 60,489,280 (GRCm39) V98I probably benign Het
Adam21 T C 12: 81,606,989 (GRCm39) T258A probably benign Het
Adam33 A T 2: 130,895,690 (GRCm39) C542S probably damaging Het
Adamts15 A G 9: 30,832,740 (GRCm39) V265A probably benign Het
Ahnak A T 19: 8,992,123 (GRCm39) D4469V probably damaging Het
Aicda A G 6: 122,538,144 (GRCm39) N101D probably benign Het
Als2 A T 1: 59,224,600 (GRCm39) D1040E probably damaging Het
Car15 T C 16: 17,653,211 (GRCm39) R319G possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Col1a1 T C 11: 94,832,419 (GRCm39) probably null Het
Col25a1 A G 3: 130,378,374 (GRCm39) *594W probably null Het
Cwf19l2 A G 9: 3,450,012 (GRCm39) probably null Het
Dctn4 C T 18: 60,679,387 (GRCm39) P236S probably damaging Het
Dennd2b A G 7: 109,141,697 (GRCm39) S556P probably benign Het
Ehmt1 C A 2: 24,742,802 (GRCm39) C459F probably benign Het
Enox1 T C 14: 77,945,127 (GRCm39) probably null Het
Fam136b-ps A G 15: 31,276,856 (GRCm39) probably benign Het
Fzd1 T C 5: 4,806,448 (GRCm39) D378G probably benign Het
Golga5 G A 12: 102,438,336 (GRCm39) R17Q probably benign Het
Hk1 A T 10: 62,122,430 (GRCm39) Y422N probably damaging Het
Hsf4 A G 8: 105,999,427 (GRCm39) D255G probably benign Het
Ift81 A G 5: 122,689,121 (GRCm39) V665A probably benign Het
Igkv13-84 T C 6: 68,916,592 (GRCm39) F3L probably benign Het
Kcnh1 T A 1: 192,020,055 (GRCm39) S433R possibly damaging Het
Ktn1 A G 14: 47,941,744 (GRCm39) probably benign Het
Lrp4 A T 2: 91,327,417 (GRCm39) D1471V possibly damaging Het
Macf1 A T 4: 123,261,801 (GRCm39) D6990E probably damaging Het
Map3k6 G A 4: 132,974,859 (GRCm39) probably benign Het
Miox T A 15: 89,219,759 (GRCm39) D82E probably benign Het
Or4n5 T G 14: 50,133,032 (GRCm39) I76L possibly damaging Het
Ovgp1 G C 3: 105,885,099 (GRCm39) R133P probably damaging Het
Per2 G A 1: 91,357,237 (GRCm39) T642I possibly damaging Het
Pparg T C 6: 115,449,964 (GRCm39) V321A probably damaging Het
Pptc7 T A 5: 122,446,312 (GRCm39) N17K probably benign Het
Prpf19 T C 19: 10,876,651 (GRCm39) probably benign Het
Rai14 T C 15: 10,690,496 (GRCm39) probably benign Het
Sardh T C 2: 27,079,559 (GRCm39) D911G probably benign Het
Sbf2 T A 7: 109,963,864 (GRCm39) T994S probably benign Het
Slc1a1 G A 19: 28,889,208 (GRCm39) E494K probably benign Het
Smarcc1 A G 9: 110,026,852 (GRCm39) K771E possibly damaging Het
Stim1 T C 7: 101,917,629 (GRCm39) V3A unknown Het
Syne3 G A 12: 104,909,629 (GRCm39) R736C probably benign Het
Synj2 T C 17: 6,087,990 (GRCm39) V986A probably benign Het
Tinag A G 9: 76,859,289 (GRCm39) S440P probably damaging Het
Tshz2 A G 2: 169,726,117 (GRCm39) T238A possibly damaging Het
Ttc8 T C 12: 98,908,562 (GRCm39) M17T probably benign Het
Tubgcp5 G A 7: 55,458,385 (GRCm39) R432Q probably damaging Het
Ugt1a10 T A 1: 87,983,974 (GRCm39) probably null Het
Usp4 T A 9: 108,239,877 (GRCm39) I202N probably damaging Het
Vmn1r194 T G 13: 22,429,170 (GRCm39) S262R probably benign Het
Vmn2r101 T C 17: 19,831,897 (GRCm39) F631S possibly damaging Het
Vps13b T A 15: 35,770,955 (GRCm39) S2133T probably damaging Het
Zfp13 C A 17: 23,799,834 (GRCm39) V77F probably benign Het
Zscan10 T A 17: 23,828,606 (GRCm39) C306S 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
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
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 PCR Primer
(F):5'- AGCAGAGTAAAATTTCCTCAGAGCC -3'
(R):5'- TCCTTCTACAAAGACTTGGCAAT -3'

Sequencing Primer
(F):5'- CAGAGCCATATTTGTATCAGCTTGC -3'
(R):5'- TACAGTATTGCCACTATCATGTTTTC -3'
Posted On 2016-06-15