Incidental Mutation 'R2071:2810021J22Rik'
ID 227151
Institutional Source Beutler Lab
Gene Symbol 2810021J22Rik
Ensembl Gene ENSMUSG00000020491
Gene Name RIKEN cDNA 2810021J22 gene
Synonyms
MMRRC Submission 040076-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R2071 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 58758042-58774114 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58767595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 31 (K31E)
Ref Sequence ENSEMBL: ENSMUSP00000073579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073924] [ENSMUST00000132570]
AlphaFold Q8BIB6
Predicted Effect probably damaging
Transcript: ENSMUST00000073924
AA Change: K31E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073579
Gene: ENSMUSG00000020491
AA Change: K31E

DomainStartEndE-ValueType
KRAB 8 68 2.38e-30 SMART
ZnF_C2H2 242 264 1.68e1 SMART
ZnF_C2H2 370 392 1.56e-2 SMART
ZnF_C2H2 398 420 1.03e-2 SMART
ZnF_C2H2 426 448 1.38e-3 SMART
ZnF_C2H2 454 476 3.16e-3 SMART
ZnF_C2H2 482 504 1.6e-4 SMART
ZnF_C2H2 510 532 7.78e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000132570
AA Change: K31E

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120692
Gene: ENSMUSG00000020491
AA Change: K31E

DomainStartEndE-ValueType
KRAB 8 64 2.25e-17 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik T A 1: 57,422,474 (GRCm39) H283Q probably damaging Het
Abcc10 G C 17: 46,614,491 (GRCm39) N1477K probably benign Het
Adam33 T C 2: 130,897,266 (GRCm39) T310A probably benign Het
Afm A G 5: 90,671,594 (GRCm39) D92G probably benign Het
Arg1 C T 10: 24,798,561 (GRCm39) A30T probably benign Het
Ash1l C G 3: 88,873,510 (GRCm39) P98A probably damaging Het
Atad5 A T 11: 79,988,878 (GRCm39) probably null Het
Atg2a T C 19: 6,307,488 (GRCm39) V1474A probably benign Het
Atp12a A G 14: 56,603,466 (GRCm39) K24E probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
B3gnt4 A T 5: 123,649,433 (GRCm39) H266L probably benign Het
Bora T C 14: 99,299,714 (GRCm39) S229P probably damaging Het
Ccn1 C T 3: 145,354,428 (GRCm39) W161* probably null Het
Cdsn A T 17: 35,865,591 (GRCm39) D40V probably damaging Het
Cep295 T C 9: 15,252,860 (GRCm39) R323G probably damaging Het
Chek2 T C 5: 110,989,112 (GRCm39) probably benign Het
Chga A T 12: 102,529,122 (GRCm39) K366N probably damaging Het
Chrm5 T C 2: 112,309,572 (GRCm39) K515E probably null Het
Cmtr1 A G 17: 29,913,757 (GRCm39) probably null Het
Dsg3 T C 18: 20,669,882 (GRCm39) L632S probably damaging Het
Eif1ad8 T A 12: 87,563,822 (GRCm39) F52L probably benign Het
Fzd3 A G 14: 65,473,012 (GRCm39) F252S probably damaging Het
Gas2l2 T C 11: 83,312,775 (GRCm39) K846E probably benign Het
Gpatch11 T C 17: 79,148,514 (GRCm39) probably null Het
Gucy2g T A 19: 55,210,772 (GRCm39) Y661F possibly damaging Het
Hhip A G 8: 80,783,931 (GRCm39) F72L probably benign Het
Kat14 T C 2: 144,231,136 (GRCm39) L181P probably damaging Het
Kifc3 A T 8: 95,834,981 (GRCm39) probably null Het
Kntc1 G T 5: 123,932,340 (GRCm39) probably null Het
Man2b1 G T 8: 85,812,013 (GRCm39) V156L possibly damaging Het
Mast1 T C 8: 85,647,823 (GRCm39) D517G probably damaging Het
Mc1r T C 8: 124,135,108 (GRCm39) L287P possibly damaging Het
Mctp1 A T 13: 76,907,843 (GRCm39) E238V probably damaging Het
Mmp12 T A 9: 7,349,725 (GRCm39) I52N probably damaging Het
Morc1 C T 16: 48,412,974 (GRCm39) T705I probably benign Het
Mrpl24 T C 3: 87,830,374 (GRCm39) probably null Het
Nap1l1 C T 10: 111,328,761 (GRCm39) T230I possibly damaging Het
Niban1 T C 1: 151,512,181 (GRCm39) F28L probably damaging Het
Nmral1 T A 16: 4,534,211 (GRCm39) I77F probably damaging Het
Nudt13 T A 14: 20,354,045 (GRCm39) D36E probably damaging Het
Oxsm A G 14: 16,241,983 (GRCm38) L262P probably benign Het
Pde10a A T 17: 9,180,827 (GRCm39) I754F probably benign Het
Pdzph1 T C 17: 59,281,092 (GRCm39) R397G probably benign Het
Pgap6 T C 17: 26,341,017 (GRCm39) Y176H probably damaging Het
Polr1a T A 6: 71,953,058 (GRCm39) V567E possibly damaging Het
Pou3f2 A G 4: 22,488,076 (GRCm39) V19A probably benign Het
Pramel34 T G 5: 93,784,375 (GRCm39) Q363P probably damaging Het
Pth1r A G 9: 110,556,081 (GRCm39) I264T probably benign Het
Ptprn C A 1: 75,231,788 (GRCm39) G504C probably damaging Het
Rbak A G 5: 143,162,339 (GRCm39) L8P probably damaging Het
Rev3l T A 10: 39,700,349 (GRCm39) D1615E probably benign Het
Rhob A G 12: 8,549,232 (GRCm39) M134T probably benign Het
Slc10a4 T C 5: 73,164,840 (GRCm39) L144P probably damaging Het
Slc45a3 T C 1: 131,905,370 (GRCm39) L131P probably damaging Het
Slf1 T A 13: 77,252,743 (GRCm39) E259D probably benign Het
Slitrk5 A G 14: 111,917,621 (GRCm39) Y415C probably damaging Het
Sohlh2 A G 3: 55,115,043 (GRCm39) I343V probably benign Het
Sorl1 T C 9: 41,890,753 (GRCm39) D1922G possibly damaging Het
Spats2l T A 1: 57,979,623 (GRCm39) I243N possibly damaging Het
Specc1 A C 11: 62,008,701 (GRCm39) K152N probably damaging Het
Sv2a G A 3: 96,101,191 (GRCm39) A730T possibly damaging Het
Tars2 C A 3: 95,654,950 (GRCm39) G113C probably damaging Het
Tcstv2b A T 13: 120,373,836 (GRCm39) D151E probably benign Het
Tep1 T C 14: 51,091,739 (GRCm39) K601E probably benign Het
Trp53 A G 11: 69,480,458 (GRCm39) D278G probably damaging Het
Ttc39d G A 17: 80,524,030 (GRCm39) G230R probably damaging Het
Tubb2b T A 13: 34,312,244 (GRCm39) Y183F probably damaging Het
Ubxn7 T A 16: 32,191,287 (GRCm39) C160S possibly damaging Het
Vcp A G 4: 42,995,894 (GRCm39) probably null Het
Vmn1r201 T C 13: 22,658,995 (GRCm39) F70L probably benign Het
Vmn1r49 C T 6: 90,049,184 (GRCm39) V273I probably benign Het
Vmn2r103 A T 17: 20,014,056 (GRCm39) I283L probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfp408 A G 2: 91,476,363 (GRCm39) F364L probably damaging Het
Zfyve26 A G 12: 79,334,220 (GRCm39) L266P possibly damaging Het
Other mutations in 2810021J22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:2810021J22Rik APN 11 58,771,438 (GRCm39) nonsense probably null
IGL01784:2810021J22Rik APN 11 58,771,445 (GRCm39) missense possibly damaging 0.89
IGL02287:2810021J22Rik APN 11 58,771,418 (GRCm39) missense probably benign 0.00
IGL03281:2810021J22Rik APN 11 58,771,601 (GRCm39) missense probably benign 0.01
H8562:2810021J22Rik UTSW 11 58,771,717 (GRCm39) missense probably damaging 1.00
R0480:2810021J22Rik UTSW 11 58,771,012 (GRCm39) missense probably damaging 0.99
R1148:2810021J22Rik UTSW 11 58,767,544 (GRCm39) missense probably damaging 0.97
R1148:2810021J22Rik UTSW 11 58,767,544 (GRCm39) missense probably damaging 0.97
R1493:2810021J22Rik UTSW 11 58,767,544 (GRCm39) missense probably damaging 0.97
R1565:2810021J22Rik UTSW 11 58,771,327 (GRCm39) missense probably benign 0.00
R1676:2810021J22Rik UTSW 11 58,771,819 (GRCm39) missense possibly damaging 0.70
R2070:2810021J22Rik UTSW 11 58,767,595 (GRCm39) missense probably damaging 0.98
R4402:2810021J22Rik UTSW 11 58,771,020 (GRCm39) missense probably benign 0.01
R4541:2810021J22Rik UTSW 11 58,769,676 (GRCm39) missense probably benign 0.16
R4685:2810021J22Rik UTSW 11 58,771,750 (GRCm39) missense probably damaging 0.97
R4765:2810021J22Rik UTSW 11 58,771,987 (GRCm39) missense probably benign 0.09
R4968:2810021J22Rik UTSW 11 58,769,616 (GRCm39) nonsense probably null
R5282:2810021J22Rik UTSW 11 58,771,166 (GRCm39) missense possibly damaging 0.84
R5519:2810021J22Rik UTSW 11 58,770,923 (GRCm39) missense probably benign
R6083:2810021J22Rik UTSW 11 58,769,677 (GRCm39) missense possibly damaging 0.73
R6134:2810021J22Rik UTSW 11 58,767,619 (GRCm39) missense probably damaging 1.00
R6334:2810021J22Rik UTSW 11 58,770,940 (GRCm39) missense probably benign
R7108:2810021J22Rik UTSW 11 58,771,750 (GRCm39) missense probably damaging 0.97
R7288:2810021J22Rik UTSW 11 58,771,131 (GRCm39) missense probably benign 0.03
R7310:2810021J22Rik UTSW 11 58,771,094 (GRCm39) missense possibly damaging 0.89
R7422:2810021J22Rik UTSW 11 58,771,885 (GRCm39) missense probably damaging 1.00
R7829:2810021J22Rik UTSW 11 58,770,823 (GRCm39) missense not run
R8237:2810021J22Rik UTSW 11 58,771,373 (GRCm39) missense probably damaging 1.00
R8303:2810021J22Rik UTSW 11 58,770,966 (GRCm39) missense probably benign 0.00
R9453:2810021J22Rik UTSW 11 58,771,054 (GRCm39) missense probably benign 0.01
Z1177:2810021J22Rik UTSW 11 58,770,929 (GRCm39) missense probably damaging 0.99
Z1186:2810021J22Rik UTSW 11 58,771,361 (GRCm39) missense probably benign 0.00
Z1187:2810021J22Rik UTSW 11 58,771,361 (GRCm39) missense probably benign 0.00
Z1188:2810021J22Rik UTSW 11 58,771,361 (GRCm39) missense probably benign 0.00
Z1189:2810021J22Rik UTSW 11 58,771,361 (GRCm39) missense probably benign 0.00
Z1190:2810021J22Rik UTSW 11 58,771,361 (GRCm39) missense probably benign 0.00
Z1191:2810021J22Rik UTSW 11 58,771,361 (GRCm39) missense probably benign 0.00
Z1192:2810021J22Rik UTSW 11 58,771,361 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGTCTCATTTAAGAGGAGCCTG -3'
(R):5'- TGCGTCAGTGAAAAGCTTGG -3'

Sequencing Primer
(F):5'- CTCATTTAAGAGGAGCCTGTGGAG -3'
(R):5'- GCTTCTTAGATGCACAAGGC -3'
Posted On 2014-09-17