Incidental Mutation 'R6990:2610008E11Rik'
ID 543205
Institutional Source Beutler Lab
Gene Symbol 2610008E11Rik
Ensembl Gene ENSMUSG00000060301
Gene Name RIKEN cDNA 2610008E11 gene
Synonyms
MMRRC Submission 045096-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6990 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 78900208-78933434 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 78902925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 464 (T464P)
Ref Sequence ENSEMBL: ENSMUSP00000044020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039271] [ENSMUST00000218854] [ENSMUST00000220220]
AlphaFold G3X964
Predicted Effect probably damaging
Transcript: ENSMUST00000039271
AA Change: T464P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044020
Gene: ENSMUSG00000060301
AA Change: T464P

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 benign
Transcript: ENSMUST00000218854
Predicted Effect probably benign
Transcript: ENSMUST00000220220
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,126,950 (GRCm39) I1214V probably benign Het
Arap2 A G 5: 62,833,860 (GRCm39) F869S probably damaging Het
Astn2 G T 4: 65,910,540 (GRCm39) H431N possibly damaging Het
Bap1 A G 14: 30,977,608 (GRCm39) T308A probably benign Het
Bcr G A 10: 74,966,868 (GRCm39) E492K possibly damaging Het
Bltp3b A G 10: 89,641,979 (GRCm39) D1050G probably benign Het
Camta1 A G 4: 151,229,501 (GRCm39) F444L probably damaging Het
Chd7 A T 4: 8,844,525 (GRCm39) T1545S probably benign Het
Dnmt1 A T 9: 20,827,110 (GRCm39) Y877* probably null Het
Fam13b A G 18: 34,630,500 (GRCm39) V86A possibly damaging Het
Gm11562 T A 11: 99,510,817 (GRCm39) R128W unknown Het
Krt86 A G 15: 101,371,714 (GRCm39) I95V probably benign Het
Mroh2b A G 15: 4,942,284 (GRCm39) T349A possibly damaging Het
Ms4a7 A T 19: 11,310,605 (GRCm39) L38Q probably damaging Het
Myo1h T C 5: 114,468,221 (GRCm39) S339P probably damaging Het
Nf2 T C 11: 4,749,944 (GRCm39) I46V probably benign Het
Nr1h4 T C 10: 89,290,792 (GRCm39) D416G probably benign Het
Oga G A 19: 45,755,915 (GRCm39) A576V probably benign Het
Or11l3 T C 11: 58,516,284 (GRCm39) E196G probably damaging Het
Or4p18 A G 2: 88,232,639 (GRCm39) M213T probably benign Het
Pde1c C G 6: 56,419,020 (GRCm39) E87Q possibly damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pga5 A T 19: 10,646,779 (GRCm39) D317E probably benign Het
Pira2 T A 7: 3,844,067 (GRCm39) K568N probably damaging Het
Ppp2cb A G 8: 34,109,161 (GRCm39) D290G probably benign Het
Sall4 T C 2: 168,596,990 (GRCm39) K617E probably damaging Het
Slc7a14 G A 3: 31,277,728 (GRCm39) P626S possibly damaging Het
Speer4b A T 5: 27,702,076 (GRCm39) L228* probably null Het
Spns2 T C 11: 72,380,447 (GRCm39) T59A probably benign Het
Tbc1d5 A T 17: 51,275,260 (GRCm39) N78K probably benign Het
Tmem63a T C 1: 180,788,686 (GRCm39) V341A probably benign Het
Trpt1 A G 19: 6,975,683 (GRCm39) T146A probably benign Het
Tyrp1 T C 4: 80,753,674 (GRCm39) C122R probably damaging Het
Uchl1 A G 5: 66,839,818 (GRCm39) E120G possibly damaging Het
Ucn3 C T 13: 3,991,295 (GRCm39) R119Q possibly damaging Het
Vmn2r2 T G 3: 64,024,608 (GRCm39) I658L probably benign Het
Vmn2r96 T A 17: 18,804,082 (GRCm39) V444E probably benign Het
Wdr54 A C 6: 83,132,629 (GRCm39) probably null Het
Xcr1 A G 9: 123,685,300 (GRCm39) L154P probably benign Het
Zbtb26 T C 2: 37,326,557 (GRCm39) K160E probably benign Het
Zfp157 T G 5: 138,454,772 (GRCm39) Y323* probably null Het
Zfp850 A T 7: 27,689,801 (GRCm39) F136I probably benign 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
R4223:2610008E11Rik UTSW 10 78,930,286 (GRCm39) missense probably damaging 1.00
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
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'- CGAGTGAGGTCTGACTTTTGGAAA -3'
(R):5'- CCTCGCTAATCATCAGAAAACGC -3'

Sequencing Primer
(F):5'- ATATGGCTTCTCACCTGAATGG -3'
(R):5'- CAGCATCATAGGATTCATACAGGTG -3'
Posted On 2018-11-28