Incidental Mutation 'R4223:2610008E11Rik'
ID 319466
Institutional Source Beutler Lab
Gene Symbol 2610008E11Rik
Ensembl Gene ENSMUSG00000060301
Gene Name RIKEN cDNA 2610008E11 gene
Synonyms
MMRRC Submission 041043-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R4223 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 78900208-78933434 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78930286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 43 (Y43H)
Ref Sequence ENSEMBL: ENSMUSP00000151822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039271] [ENSMUST00000218854] [ENSMUST00000220220]
AlphaFold G3X964
Predicted Effect probably damaging
Transcript: ENSMUST00000039271
AA Change: Y43H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044020
Gene: ENSMUSG00000060301
AA Change: Y43H

DomainStartEndE-ValueType
KRAB 10 70 6.95e-32 SMART
ZnF_C2H2 215 237 1.61e2 SMART
ZnF_C2H2 243 266 4.24e-4 SMART
ZnF_C2H2 272 295 1.03e-2 SMART
ZnF_C2H2 301 324 1.76e-1 SMART
ZnF_C2H2 330 352 1.45e-2 SMART
ZnF_C2H2 358 380 1.58e-3 SMART
ZnF_C2H2 386 408 2.75e-3 SMART
ZnF_C2H2 414 437 4.61e-5 SMART
ZnF_C2H2 443 465 1.1e-2 SMART
ZnF_C2H2 471 493 5.81e-2 SMART
ZnF_C2H2 499 521 4.79e-3 SMART
ZnF_C2H2 527 549 3.58e-2 SMART
ZnF_C2H2 555 577 3.44e-4 SMART
ZnF_C2H2 583 605 6.78e-3 SMART
ZnF_C2H2 611 633 3.95e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000218854
AA Change: Y43H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219729
Predicted Effect probably damaging
Transcript: ENSMUST00000220220
AA Change: Y43H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 98% (65/66)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A T 1: 74,320,285 (GRCm39) L348Q probably damaging Het
Abcb1b T A 5: 8,863,722 (GRCm39) L226M probably damaging Het
Acap1 A G 11: 69,774,511 (GRCm39) S396P probably damaging Het
Aif1l A T 2: 31,852,251 (GRCm39) S40C probably damaging Het
Atp1a3 T C 7: 24,700,355 (GRCm39) D48G probably benign Het
Bhmt-ps1 T A 4: 26,369,352 (GRCm39) noncoding transcript Het
Ccdc116 A G 16: 16,964,809 (GRCm39) probably benign Het
Cmtm5 T A 14: 55,175,376 (GRCm39) C51S probably damaging Het
Cyb5rl T C 4: 106,938,185 (GRCm39) V214A probably damaging Het
Cyp4x1 A T 4: 114,970,077 (GRCm39) I350N probably damaging Het
Efcab6 C A 15: 83,751,309 (GRCm39) D1498Y probably damaging Het
Eif3c C G 7: 126,165,471 (GRCm39) probably benign Het
Epha3 G A 16: 63,403,902 (GRCm39) S733L probably damaging Het
Esyt1 T C 10: 128,356,517 (GRCm39) Y376C probably damaging Het
Galnt1 T C 18: 24,371,413 (GRCm39) F4L probably benign Het
Glis1 T C 4: 107,425,042 (GRCm39) S218P probably benign Het
Gm15854 A T 6: 129,949,426 (GRCm39) noncoding transcript Het
Gm29125 T C 1: 80,361,236 (GRCm39) noncoding transcript Het
Inpp5a T C 7: 139,138,821 (GRCm39) V263A possibly damaging Het
Itgb1 T G 8: 129,440,624 (GRCm39) I255S probably damaging Het
Kcp A G 6: 29,482,257 (GRCm39) L1547P possibly damaging Het
Kifc3 C A 8: 95,836,610 (GRCm39) L72F probably damaging Het
Lama3 T C 18: 12,583,460 (GRCm39) C683R probably damaging Het
Lrrc55 G A 2: 85,026,460 (GRCm39) A188V possibly damaging Het
Ly6i A T 15: 74,854,884 (GRCm39) S9T probably benign Het
Mfsd14b C T 13: 65,214,422 (GRCm39) probably benign Het
Nipsnap3a T A 4: 52,997,251 (GRCm39) D172E probably benign Het
Or4g7 A T 2: 111,309,489 (GRCm39) Y120F probably benign Het
Oxgr1 T C 14: 120,260,025 (GRCm39) K61E probably damaging Het
Pak2 G T 16: 31,871,028 (GRCm39) N51K probably benign Het
Pcdhgb7 T A 18: 37,886,856 (GRCm39) D675E probably benign Het
Pcolce T A 5: 137,603,389 (GRCm39) probably benign Het
Phc3 A T 3: 30,990,968 (GRCm39) S383R probably damaging Het
Phf1 C T 17: 27,156,474 (GRCm39) R539* probably null Het
Plch1 G A 3: 63,609,321 (GRCm39) T48I probably damaging Het
Plekha2 A G 8: 25,533,036 (GRCm39) S312P probably damaging Het
Pnpla7 T C 2: 24,872,126 (GRCm39) F69L possibly damaging Het
Ppcdc T A 9: 57,321,998 (GRCm39) M181L possibly damaging Het
Ptbp1 T C 10: 79,695,047 (GRCm39) I125T probably benign Het
Rfc3 C A 5: 151,574,637 (GRCm39) probably benign Het
Rpa2 T G 4: 132,504,055 (GRCm39) I69S probably damaging Het
Rtn4 G A 11: 29,656,856 (GRCm39) V337I probably benign Het
Rttn T C 18: 89,113,708 (GRCm39) L1709P probably damaging Het
Sh2b2 G A 5: 136,247,907 (GRCm39) P548L possibly damaging Het
Slc12a2 T A 18: 58,043,328 (GRCm39) S591T probably damaging Het
Slc25a45 A T 19: 5,930,146 (GRCm39) I39F probably damaging Het
Slc38a9 G A 13: 112,850,782 (GRCm39) probably null Het
Slc9a4 T C 1: 40,658,286 (GRCm39) V603A probably damaging Het
Snx19 T G 9: 30,339,744 (GRCm39) V294G possibly damaging Het
Sp140l2 T C 1: 85,090,278 (GRCm39) D83G probably damaging Het
Sspo G T 6: 48,428,091 (GRCm39) V313L possibly damaging Het
Stard9 A G 2: 120,495,472 (GRCm39) T116A possibly damaging Het
Strn3 C T 12: 51,674,638 (GRCm39) R382Q probably damaging Het
Trim43b T A 9: 88,972,692 (GRCm39) Q154L probably benign Het
Trps1 A G 15: 50,710,044 (GRCm39) V98A probably benign Het
Vmn1r220 T A 13: 23,368,148 (GRCm39) M183L probably benign Het
Vmn2r60 A T 7: 41,765,952 (GRCm39) T20S probably benign Het
Wdr81 T C 11: 75,338,828 (GRCm39) T1444A probably benign Het
Xirp2 A T 2: 67,346,837 (GRCm39) E3026V possibly damaging Het
Other mutations in 2610008E11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01551:2610008E11Rik APN 10 78,924,147 (GRCm39) missense possibly damaging 0.79
IGL01905:2610008E11Rik APN 10 78,903,582 (GRCm39) missense probably damaging 1.00
IGL02522:2610008E11Rik APN 10 78,903,633 (GRCm39) missense probably benign 0.27
IGL02999:2610008E11Rik APN 10 78,903,424 (GRCm39) missense possibly damaging 0.74
K7371:2610008E11Rik UTSW 10 78,903,767 (GRCm39) missense probably benign 0.01
R0557:2610008E11Rik UTSW 10 78,903,519 (GRCm39) missense probably damaging 0.99
R0761:2610008E11Rik UTSW 10 78,903,833 (GRCm39) missense probably benign 0.00
R1528:2610008E11Rik UTSW 10 78,903,530 (GRCm39) missense possibly damaging 0.72
R1801:2610008E11Rik UTSW 10 78,903,230 (GRCm39) missense probably damaging 1.00
R1923:2610008E11Rik UTSW 10 78,903,743 (GRCm39) missense probably damaging 0.98
R2444:2610008E11Rik UTSW 10 78,904,561 (GRCm39) missense possibly damaging 0.95
R4653:2610008E11Rik UTSW 10 78,903,264 (GRCm39) missense probably benign 0.42
R5127:2610008E11Rik UTSW 10 78,902,826 (GRCm39) missense probably damaging 1.00
R5784:2610008E11Rik UTSW 10 78,903,441 (GRCm39) missense possibly damaging 0.68
R6175:2610008E11Rik UTSW 10 78,902,448 (GRCm39) missense probably damaging 0.98
R6990:2610008E11Rik UTSW 10 78,902,925 (GRCm39) missense probably damaging 0.99
R7055:2610008E11Rik UTSW 10 78,903,681 (GRCm39) missense probably damaging 0.98
R7133:2610008E11Rik UTSW 10 78,902,474 (GRCm39) missense probably benign 0.33
R7133:2610008E11Rik UTSW 10 78,902,473 (GRCm39) missense probably benign 0.02
R7142:2610008E11Rik UTSW 10 78,903,446 (GRCm39) missense probably damaging 1.00
R7382:2610008E11Rik UTSW 10 78,903,103 (GRCm39) missense probably damaging 1.00
R7577:2610008E11Rik UTSW 10 78,902,325 (GRCm39) missense possibly damaging 0.95
R8103:2610008E11Rik UTSW 10 78,903,668 (GRCm39) missense probably benign
R8117:2610008E11Rik UTSW 10 78,930,289 (GRCm39) missense probably benign 0.07
R8296:2610008E11Rik UTSW 10 78,903,568 (GRCm39) missense probably benign 0.09
R8316:2610008E11Rik UTSW 10 78,903,573 (GRCm39) missense probably damaging 1.00
R8477:2610008E11Rik UTSW 10 78,924,174 (GRCm39) missense probably benign 0.00
R8790:2610008E11Rik UTSW 10 78,928,285 (GRCm39) missense possibly damaging 0.85
R9044:2610008E11Rik UTSW 10 78,902,314 (GRCm39) nonsense probably null
R9147:2610008E11Rik UTSW 10 78,903,406 (GRCm39) nonsense probably null
R9148:2610008E11Rik UTSW 10 78,903,406 (GRCm39) nonsense probably null
R9474:2610008E11Rik UTSW 10 78,903,565 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGCAGTTCCCCAGGAAAG -3'
(R):5'- GCAAGTCATTCCTACAACAGAG -3'

Sequencing Primer
(F):5'- GGCTCAAGTGATGACTTAACATC -3'
(R):5'- TACAACAGAGAAGAATAAATCCCAGG -3'
Posted On 2015-06-10