Incidental Mutation 'R5127:2610008E11Rik'
ID394826
Institutional Source Beutler Lab
Gene Symbol 2610008E11Rik
Ensembl Gene ENSMUSG00000060301
Gene NameRIKEN cDNA 2610008E11 gene
Synonyms
MMRRC Submission 042715-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #R5127 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location79064374-79097600 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79066992 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 497 (K497E)
Ref Sequence ENSEMBL: ENSMUSP00000044020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039271] [ENSMUST00000218854] [ENSMUST00000220220]
Predicted Effect probably damaging
Transcript: ENSMUST00000039271
AA Change: K497E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044020
Gene: ENSMUSG00000060301
AA Change: K497E

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
Meta Mutation Damage Score 0.27 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 93% (42/45)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933413J09Rik A G 14: 26,376,307 noncoding transcript Het
Aox1 A T 1: 58,030,026 I4F probably benign Het
Arhgef5 A T 6: 43,273,214 N300Y probably damaging Het
B530045E10Rik A G 10: 99,422,121 noncoding transcript Het
Ccnb1 C G 13: 100,781,775 Q121H possibly damaging Het
Cdh20 A G 1: 104,947,348 E285G probably damaging Het
Cfap54 A T 10: 92,886,387 probably null Het
Col6a3 A G 1: 90,768,345 C2667R unknown Het
Cts8 C T 13: 61,253,335 V126M probably damaging Het
Dag1 A T 9: 108,207,572 I790N possibly damaging Het
Ddit4 A G 10: 59,950,669 I186T probably damaging Het
Dnajc11 T A 4: 151,969,814 probably benign Het
Farsa A G 8: 84,868,964 D495G probably benign Het
Gm10125 T C 18: 5,567,390 noncoding transcript Het
Gm1527 T A 3: 28,903,418 I157N probably damaging Het
Gm5773 T A 3: 93,773,428 W136R probably benign Het
Hpse C A 5: 100,719,537 A20S unknown Het
Igfn1 A G 1: 135,959,896 Y2477H probably damaging Het
Kcnh5 A G 12: 74,898,084 V797A probably benign Het
Kptn T A 7: 16,125,785 C311* probably null Het
Lpcat2 A T 8: 92,909,191 N407I possibly damaging Het
Lrp1 T A 10: 127,539,634 probably benign Het
Ovol2 C T 2: 144,317,860 C120Y probably damaging Het
Pcdhac2 G T 18: 37,144,299 E111* probably null Het
Pknox1 C T 17: 31,590,739 P106S probably benign Het
Plet1 C T 9: 50,504,295 T155I probably benign Het
Ppfia2 A G 10: 106,835,760 K444R probably damaging Het
Prrc2c A T 1: 162,697,846 I397N unknown Het
Ranbp1 A G 16: 18,247,287 probably null Het
Raver2 T C 4: 101,102,985 C221R probably damaging Het
Reps1 A G 10: 18,093,880 T244A probably benign Het
Slc22a16 G A 10: 40,573,957 V130I probably benign Het
Stmnd1 G A 13: 46,299,595 S249N probably benign Het
Styx A G 14: 45,373,504 probably null Het
Sult1b1 T G 5: 87,521,548 N147T probably damaging Het
Tbc1d2 G A 4: 46,633,639 probably benign Het
Tm4sf1 T G 3: 57,292,868 I109L possibly damaging Het
Ufl1 T C 4: 25,256,010 E423G probably benign Het
Unc13c T C 9: 73,933,372 I66V probably benign Het
Wfdc10 C T 2: 164,657,140 Q57* probably null Het
Zfp369 A T 13: 65,279,033 probably benign Het
Other mutations in 2610008E11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01551:2610008E11Rik APN 10 79088313 missense possibly damaging 0.79
IGL01905:2610008E11Rik APN 10 79067748 missense probably damaging 1.00
IGL02522:2610008E11Rik APN 10 79067799 missense probably benign 0.27
IGL02999:2610008E11Rik APN 10 79067590 missense possibly damaging 0.74
K7371:2610008E11Rik UTSW 10 79067933 missense probably benign 0.01
R0557:2610008E11Rik UTSW 10 79067685 missense probably damaging 0.99
R0761:2610008E11Rik UTSW 10 79067999 missense probably benign 0.00
R1528:2610008E11Rik UTSW 10 79067696 missense possibly damaging 0.72
R1801:2610008E11Rik UTSW 10 79067396 missense probably damaging 1.00
R1923:2610008E11Rik UTSW 10 79067909 missense probably damaging 0.98
R2444:2610008E11Rik UTSW 10 79068727 missense possibly damaging 0.95
R4223:2610008E11Rik UTSW 10 79094452 missense probably damaging 1.00
R4653:2610008E11Rik UTSW 10 79067430 missense probably benign 0.42
R5784:2610008E11Rik UTSW 10 79067607 missense possibly damaging 0.68
R6175:2610008E11Rik UTSW 10 79066614 missense probably damaging 0.98
R6990:2610008E11Rik UTSW 10 79067091 missense probably damaging 0.99
R7055:2610008E11Rik UTSW 10 79067847 missense probably damaging 0.98
R7133:2610008E11Rik UTSW 10 79066639 missense probably benign 0.02
R7133:2610008E11Rik UTSW 10 79066640 missense probably benign 0.33
R7142:2610008E11Rik UTSW 10 79067612 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGTCCTCTGATGTCGAGTG -3'
(R):5'- AGAAAACGCATACAGATGATAATCCC -3'

Sequencing Primer
(F):5'- CATTCATATGGCTTCTCACCTGAATG -3'
(R):5'- TTCATACAGGTGAGAAGCCCTATG -3'
Posted On2016-06-21