Incidental Mutation 'R7213:2010315B03Rik'
ID 561223
Institutional Source Beutler Lab
Gene Symbol 2010315B03Rik
Ensembl Gene ENSMUSG00000074829
Gene Name RIKEN cDNA 2010315B03 gene
Synonyms
MMRRC Submission 045341-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R7213 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 124054434-124075326 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 124056530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 131 (Y131*)
Ref Sequence ENSEMBL: ENSMUSP00000137258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071300] [ENSMUST00000177714] [ENSMUST00000185949] [ENSMUST00000189915]
AlphaFold J3QK55
Predicted Effect probably null
Transcript: ENSMUST00000071300
AA Change: Y152*
SMART Domains Protein: ENSMUSP00000071269
Gene: ENSMUSG00000074829
AA Change: Y152*

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
AA Change: Y131*
SMART Domains Protein: ENSMUSP00000137258
Gene: ENSMUSG00000074829
AA Change: Y131*

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
AA Change: Y156*
SMART Domains Protein: ENSMUSP00000140144
Gene: ENSMUSG00000074829
AA Change: Y156*

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
AA Change: Y128*
SMART Domains Protein: ENSMUSP00000140738
Gene: ENSMUSG00000074829
AA Change: Y128*

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A T 1: 138,781,367 (GRCm39) V94D probably damaging Het
Actr1b T A 1: 36,741,221 (GRCm39) N120I probably damaging Het
Adam17 A T 12: 21,386,679 (GRCm39) Y452* probably null Het
Adam19 A T 11: 46,012,298 (GRCm39) T265S probably benign Het
Adgrb1 A G 15: 74,441,733 (GRCm39) T945A probably benign Het
Bpifa5 G A 2: 154,007,903 (GRCm39) V182M possibly damaging Het
Celsr3 C T 9: 108,726,239 (GRCm39) T3156I probably damaging Het
Cntrl A G 2: 35,025,692 (GRCm39) M674V possibly damaging Het
Cry2 C T 2: 92,244,004 (GRCm39) V390I probably benign Het
Cspg4b T A 13: 113,454,475 (GRCm39) F174I Het
Cwc25 G T 11: 97,644,855 (GRCm39) Q168K probably benign Het
Dcbld2 C T 16: 58,271,126 (GRCm39) A301V probably benign Het
Dclre1a T C 19: 56,518,067 (GRCm39) Y1004C probably damaging Het
Ddhd1 A C 14: 45,895,210 (GRCm39) S87A probably benign Het
Ear1 A G 14: 44,056,611 (GRCm39) C86R probably damaging Het
Epha5 T C 5: 84,381,782 (GRCm39) probably null Het
Fat2 A T 11: 55,171,871 (GRCm39) Y2947* probably null Het
Fat4 G A 3: 39,053,236 (GRCm39) V4077M possibly damaging Het
Fbxl12 A T 9: 20,550,304 (GRCm39) V140E probably damaging Het
Fbxo16 A G 14: 65,536,868 (GRCm39) probably null Het
Fto A T 8: 92,118,135 (GRCm39) Q29L probably benign Het
Gk5 C T 9: 96,027,765 (GRCm39) T200M probably damaging Het
Gm5916 C T 9: 36,039,946 (GRCm39) G14E possibly damaging Het
Gm9972 A T 11: 42,927,235 (GRCm39) probably benign Het
Gpr139 T A 7: 118,744,322 (GRCm39) M88L probably benign Het
Gpr26 T C 7: 131,569,219 (GRCm39) L188P probably damaging Het
H2ac4 G T 13: 23,935,146 (GRCm39) A11S unknown Het
Hbp1 A T 12: 31,987,196 (GRCm39) S219T probably benign Het
Hr A T 14: 70,795,790 (GRCm39) E445V probably damaging Het
Il12rb1 A G 8: 71,269,097 (GRCm39) K426E probably benign Het
Itgbl1 G A 14: 124,210,709 (GRCm39) C469Y probably damaging Het
Kdm2b A T 5: 123,059,532 (GRCm39) N523K probably damaging Het
Kptn A G 7: 15,854,704 (GRCm39) N125S possibly damaging Het
Krt17 T C 11: 100,149,356 (GRCm39) N238S probably benign Het
Lemd3 G A 10: 120,814,145 (GRCm39) R363* probably null Het
Mmrn1 G A 6: 60,921,527 (GRCm39) probably benign Het
Mtus1 T C 8: 41,537,524 (GRCm39) D64G probably damaging Het
Muc16 A G 9: 18,552,712 (GRCm39) V4527A probably benign Het
Naip2 T A 13: 100,323,991 (GRCm39) D193V probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nf1 A G 11: 79,360,645 (GRCm39) H1462R probably benign Het
Or2n1b T C 17: 38,459,965 (GRCm39) V162A probably benign Het
Or5ak20 A T 2: 85,183,900 (GRCm39) Y123* probably null Het
Pappa2 T A 1: 158,764,456 (GRCm39) T352S possibly damaging Het
Pcnt A G 10: 76,244,738 (GRCm39) L1114P probably damaging Het
Pde6b T C 5: 108,551,956 (GRCm39) Y212H probably damaging Het
Pik3c2g A T 6: 139,805,990 (GRCm39) I604F Het
Pld2 A G 11: 70,444,198 (GRCm39) D498G probably benign Het
Prag1 A T 8: 36,613,769 (GRCm39) Q1107L probably damaging Het
Pwp1 A T 10: 85,712,173 (GRCm39) I110F probably benign Het
Rims4 C T 2: 163,705,981 (GRCm39) V218I probably benign Het
Rnf10 C T 5: 115,380,532 (GRCm39) S754N probably damaging Het
Rnf10 T C 5: 115,380,533 (GRCm39) S754G probably damaging Het
Sel1l2 A T 2: 140,086,055 (GRCm39) V512E probably damaging Het
Shank2 T A 7: 143,585,146 (GRCm39) M49K probably benign Het
Sipa1 T C 19: 5,710,551 (GRCm39) D153G probably damaging Het
Slc46a2 C T 4: 59,914,279 (GRCm39) V215I possibly damaging Het
Slco6c1 G A 1: 97,055,671 (GRCm39) L77F probably benign Het
Smarca2 T C 19: 26,624,531 (GRCm39) L397P possibly damaging Het
Spg7 C T 8: 123,816,971 (GRCm39) A554V probably damaging Het
Stab1 T A 14: 30,865,630 (GRCm39) M1753L probably benign Het
Stk11 A G 10: 79,952,452 (GRCm39) M1V probably null Het
Supt6 C A 11: 78,122,976 (GRCm39) G136C probably damaging Het
Svil G T 18: 5,094,574 (GRCm39) R1418L probably damaging Het
Tfg A G 16: 56,521,516 (GRCm39) S167P probably benign Het
Timeless T C 10: 128,079,158 (GRCm39) V335A probably benign Het
Tll2 C A 19: 41,108,666 (GRCm39) R328L probably damaging Het
Tomm7 T C 5: 24,049,059 (GRCm39) S5G possibly damaging Het
Ttc39c G A 18: 12,820,138 (GRCm39) probably null Het
Ttn T C 2: 76,556,105 (GRCm39) E30300G probably benign Het
Tuba4a A T 1: 75,192,341 (GRCm39) D452E possibly damaging Het
Tubgcp2 T C 7: 139,587,927 (GRCm39) I233V probably benign Het
Tubgcp5 T A 7: 55,455,860 (GRCm39) V296E probably damaging Het
Vmn2r53 T C 7: 12,334,983 (GRCm39) S226G probably benign Het
Xrcc6 T C 15: 81,901,027 (GRCm39) probably benign Het
Zfhx4 C A 3: 5,461,704 (GRCm39) D1192E probably benign Het
Zfp180 G T 7: 23,803,938 (GRCm39) W119L possibly damaging Het
Zfp3 A G 11: 70,663,351 (GRCm39) I437V probably benign Het
Zfp616 A T 11: 73,976,689 (GRCm39) Q986L probably benign Het
Zfp937 T A 2: 150,081,385 (GRCm39) C472S 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
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
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'- TGACTGTGACGTGAATAGGCTT -3'
(R):5'- GTATTGTCAAAGATGCCTAAGAACTCA -3'

Sequencing Primer
(F):5'- CTGTGACGTGAATAGGCTTTACCAC -3'
(R):5'- GTAAAGCTTTCACGTGTGCC -3'
Posted On 2019-06-26