Incidental Mutation 'R1101:2610021A01Rik'
ID 98087
Institutional Source Beutler Lab
Gene Symbol 2610021A01Rik
Ensembl Gene ENSMUSG00000091474
Gene Name RIKEN cDNA 2610021A01 gene
Synonyms
MMRRC Submission 039174-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R1101 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 41248654-41277957 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 41276783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 829 (H829N)
Ref Sequence ENSEMBL: ENSMUSP00000127760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163475]
AlphaFold E9Q0Q3
Predicted Effect probably damaging
Transcript: ENSMUST00000163475
AA Change: H829N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127760
Gene: ENSMUSG00000091474
AA Change: H829N

DomainStartEndE-ValueType
KRAB 18 78 1.32e-32 SMART
ZnF_C2H2 415 437 4.54e-4 SMART
ZnF_C2H2 443 465 3.69e-4 SMART
ZnF_C2H2 471 493 5.14e-3 SMART
ZnF_C2H2 499 521 4.94e-5 SMART
ZnF_C2H2 527 549 3.16e-3 SMART
ZnF_C2H2 555 577 3.16e-3 SMART
ZnF_C2H2 583 605 8.6e-5 SMART
ZnF_C2H2 611 633 1.79e-2 SMART
ZnF_C2H2 639 661 2.43e-4 SMART
ZnF_C2H2 667 689 1.72e-4 SMART
ZnF_C2H2 695 717 9.73e-4 SMART
ZnF_C2H2 723 745 2.02e-1 SMART
ZnF_C2H2 751 773 1.69e-3 SMART
ZnF_C2H2 779 801 3.69e-4 SMART
ZnF_C2H2 807 829 7.37e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206757
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 91.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,909 (GRCm39) I249M possibly damaging Het
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abi3bp G T 16: 56,426,521 (GRCm39) R512L probably damaging Het
Acot2 T G 12: 84,039,624 (GRCm39) S378A probably benign Het
Akap9 T C 5: 4,096,205 (GRCm39) I2360T probably benign Het
Bank1 T C 3: 135,989,625 (GRCm39) D155G probably benign Het
Bsn A G 9: 107,993,610 (GRCm39) V714A probably damaging Het
Cdh15 G A 8: 123,587,585 (GRCm39) V170I possibly damaging Het
Clcn2 G A 16: 20,522,345 (GRCm39) T787I probably damaging Het
Dapk1 A G 13: 60,864,599 (GRCm39) H131R probably damaging Het
Dct T G 14: 118,274,034 (GRCm39) D291A probably damaging Het
Dhx37 A G 5: 125,492,216 (GRCm39) Y1128H probably damaging Het
Dip2c A T 13: 9,684,780 (GRCm39) I1174F probably damaging Het
Eif3l A G 15: 78,959,467 (GRCm39) Y3C probably damaging Het
Enpp5 A G 17: 44,392,258 (GRCm39) N229S possibly damaging Het
Fam83b A T 9: 76,452,952 (GRCm39) H38Q possibly damaging Het
Fcamr T A 1: 130,742,223 (GRCm39) probably null Het
Hdac2 G A 10: 36,867,805 (GRCm39) V184I probably damaging Het
Igf2bp2 A T 16: 21,981,700 (GRCm39) L5Q probably damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Ireb2 T A 9: 54,816,986 (GRCm39) H951Q probably benign Het
Lman1 T A 18: 66,120,969 (GRCm39) M418L probably benign Het
Lrrfip2 C T 9: 111,019,293 (GRCm39) R275W probably damaging Het
Mast3 T A 8: 71,239,307 (GRCm39) I424F probably damaging Het
Mep1a T C 17: 43,802,584 (GRCm39) D147G probably benign Het
Mtr C A 13: 12,204,411 (GRCm39) E1128D possibly damaging Het
Ogfod1 C A 8: 94,790,932 (GRCm39) S534R probably benign Het
Or4c107 A T 2: 88,789,328 (GRCm39) I173F possibly damaging Het
Or4k42 T C 2: 111,319,787 (GRCm39) T239A probably damaging Het
Or5k1 A G 16: 58,617,615 (GRCm39) V198A probably benign Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pcdh18 T A 3: 49,707,828 (GRCm39) D882V probably damaging Het
Pik3cg C T 12: 32,245,645 (GRCm39) G868S probably null Het
Plppr5 T G 3: 117,456,172 (GRCm39) M231R probably damaging Het
Polr2a T C 11: 69,638,897 (GRCm39) T46A probably benign Het
Ppp4r3a C A 12: 101,017,830 (GRCm39) R440L probably damaging Het
Serpinb9e A T 13: 33,444,071 (GRCm39) T364S probably benign Het
Sirt3 A G 7: 140,449,541 (GRCm39) V135A possibly damaging Het
Supt16 T C 14: 52,408,896 (GRCm39) N826S probably null Het
Tbr1 T C 2: 61,635,083 (GRCm39) I11T probably benign Het
Trim72 A G 7: 127,609,419 (GRCm39) E407G possibly damaging Het
Vps72 C A 3: 95,026,487 (GRCm39) T144K probably damaging Het
Other mutations in 2610021A01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:2610021A01Rik APN 7 41,274,996 (GRCm39) missense possibly damaging 0.61
IGL00566:2610021A01Rik APN 7 41,274,815 (GRCm39) missense possibly damaging 0.53
R0940:2610021A01Rik UTSW 7 41,275,858 (GRCm39) missense probably damaging 1.00
R1180:2610021A01Rik UTSW 7 41,275,141 (GRCm39) missense probably benign 0.41
R1560:2610021A01Rik UTSW 7 41,275,466 (GRCm39) missense probably benign 0.09
R1740:2610021A01Rik UTSW 7 41,275,549 (GRCm39) nonsense probably null
R1988:2610021A01Rik UTSW 7 41,276,081 (GRCm39) nonsense probably null
R2041:2610021A01Rik UTSW 7 41,275,403 (GRCm39) missense possibly damaging 0.63
R2964:2610021A01Rik UTSW 7 41,275,829 (GRCm39) nonsense probably null
R2965:2610021A01Rik UTSW 7 41,275,829 (GRCm39) nonsense probably null
R2966:2610021A01Rik UTSW 7 41,275,829 (GRCm39) nonsense probably null
R4002:2610021A01Rik UTSW 7 41,274,964 (GRCm39) missense possibly damaging 0.83
R4569:2610021A01Rik UTSW 7 41,275,262 (GRCm39) missense probably benign 0.04
R4708:2610021A01Rik UTSW 7 41,261,309 (GRCm39) missense probably damaging 1.00
R4880:2610021A01Rik UTSW 7 41,276,529 (GRCm39) missense possibly damaging 0.47
R4933:2610021A01Rik UTSW 7 41,276,226 (GRCm39) missense probably damaging 0.98
R5036:2610021A01Rik UTSW 7 41,275,578 (GRCm39) missense possibly damaging 0.92
R5206:2610021A01Rik UTSW 7 41,276,009 (GRCm39) nonsense probably null
R5235:2610021A01Rik UTSW 7 41,274,256 (GRCm39) missense possibly damaging 0.53
R6449:2610021A01Rik UTSW 7 41,275,298 (GRCm39) nonsense probably null
R6488:2610021A01Rik UTSW 7 41,275,298 (GRCm39) nonsense probably null
R6904:2610021A01Rik UTSW 7 41,275,516 (GRCm39) nonsense probably null
R7058:2610021A01Rik UTSW 7 41,275,554 (GRCm39) missense possibly damaging 0.61
R7157:2610021A01Rik UTSW 7 41,276,400 (GRCm39) missense probably damaging 1.00
R7392:2610021A01Rik UTSW 7 41,275,990 (GRCm39) missense probably damaging 1.00
R7589:2610021A01Rik UTSW 7 41,276,396 (GRCm39) missense probably damaging 1.00
R7648:2610021A01Rik UTSW 7 41,261,886 (GRCm39) missense possibly damaging 0.51
R7785:2610021A01Rik UTSW 7 41,262,617 (GRCm39) missense probably benign
R8153:2610021A01Rik UTSW 7 41,275,157 (GRCm39) missense probably benign 0.00
R8199:2610021A01Rik UTSW 7 41,275,304 (GRCm39) missense probably damaging 0.98
R8943:2610021A01Rik UTSW 7 41,275,667 (GRCm39) missense probably damaging 0.98
R9052:2610021A01Rik UTSW 7 41,275,449 (GRCm39) missense probably benign 0.29
R9071:2610021A01Rik UTSW 7 41,274,783 (GRCm39) missense probably benign
R9169:2610021A01Rik UTSW 7 41,261,109 (GRCm39) start gained probably benign
R9209:2610021A01Rik UTSW 7 41,275,837 (GRCm39) missense possibly damaging 0.79
R9281:2610021A01Rik UTSW 7 41,274,184 (GRCm39) missense possibly damaging 0.73
R9530:2610021A01Rik UTSW 7 41,274,165 (GRCm39) missense possibly damaging 0.53
R9612:2610021A01Rik UTSW 7 41,276,327 (GRCm39) missense possibly damaging 0.73
X0067:2610021A01Rik UTSW 7 41,276,741 (GRCm39) missense probably benign 0.09
Z1176:2610021A01Rik UTSW 7 41,274,766 (GRCm39) missense probably benign 0.41
Predicted Primers
Posted On 2014-01-05