Incidental Mutation 'R5235:2610021A01Rik'
ID 486778
Institutional Source Beutler Lab
Gene Symbol 2610021A01Rik
Ensembl Gene ENSMUSG00000091474
Gene Name RIKEN cDNA 2610021A01 gene
Synonyms
MMRRC Submission 042807-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R5235 (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 41274256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 126 (H126Q)
Ref Sequence ENSEMBL: ENSMUSP00000127760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163475]
AlphaFold E9Q0Q3
Predicted Effect possibly damaging
Transcript: ENSMUST00000163475
AA Change: H126Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127760
Gene: ENSMUSG00000091474
AA Change: H126Q

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Aga A G 8: 53,967,361 (GRCm39) H124R probably damaging Het
Ank1 G A 8: 23,572,212 (GRCm39) G49R probably damaging Het
Aox1 G T 1: 58,096,714 (GRCm39) V270L possibly damaging Het
Arfrp1 T C 2: 181,001,298 (GRCm39) H145R probably benign Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Atg3 A G 16: 44,979,520 (GRCm39) T20A probably benign Het
C3ar1 A G 6: 122,827,881 (GRCm39) L112P probably damaging Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Csmd3 T C 15: 47,492,674 (GRCm39) T3156A probably benign Het
Dag1 T C 9: 108,084,897 (GRCm39) Y748C probably damaging Het
Dek A T 13: 47,239,955 (GRCm39) probably null Het
Fras1 G A 5: 96,748,609 (GRCm39) V695M probably benign Het
Gpx7 A G 4: 108,258,189 (GRCm39) S135P probably damaging Het
Ido2 A T 8: 25,037,202 (GRCm39) I168N probably damaging Het
Lca5 A T 9: 83,305,107 (GRCm39) L233* probably null Het
Liph A C 16: 21,802,785 (GRCm39) L95V probably damaging Het
Mast1 A T 8: 85,640,068 (GRCm39) L1113Q probably damaging Het
Nlrx1 C T 9: 44,175,047 (GRCm39) G243D probably damaging Het
Or4ac1-ps1 G A 2: 88,370,769 (GRCm39) noncoding transcript Het
Or5d40 T A 2: 88,015,912 (GRCm39) D230E probably benign Het
Otoa T C 7: 120,755,693 (GRCm39) L1033P probably damaging Het
Ovol3 A T 7: 29,932,899 (GRCm39) Y179N possibly damaging Het
Papss2 A G 19: 32,616,619 (GRCm39) N215S probably benign Het
Pcdhga8 T C 18: 37,860,488 (GRCm39) Y515H probably damaging Het
Phlda1 CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC CCAGCCCCAACCTCAGCCCCAACC 10: 111,343,252 (GRCm39) probably benign Het
Scn2a A T 2: 65,582,355 (GRCm39) N1568Y probably damaging Het
Sec16b A T 1: 157,362,334 (GRCm39) I251F probably benign Het
Slc29a4 T A 5: 142,704,523 (GRCm39) I355N probably damaging Het
Snx29 G T 16: 11,231,110 (GRCm39) C39F possibly damaging Het
Spata16 A G 3: 26,721,781 (GRCm39) M101V probably benign Het
Stat2 T C 10: 128,126,901 (GRCm39) probably null Het
Tdpoz8 A G 3: 92,981,393 (GRCm39) D137G probably damaging Het
Tnrc6c G T 11: 117,651,555 (GRCm39) V1693F probably benign Het
Tpm3 A G 3: 89,993,802 (GRCm39) E97G probably damaging Het
Ugt8a A C 3: 125,661,129 (GRCm39) H454Q probably damaging Het
Vmn2r27 T A 6: 124,169,013 (GRCm39) I706L probably damaging Het
Wdfy3 T C 5: 101,994,972 (GRCm39) I3256V probably null 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
R1101:2610021A01Rik UTSW 7 41,276,783 (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
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 PCR Primer
(F):5'- TCTTGGCACAGTCCTTGTAG -3'
(R):5'- TTTCCTAAAAGAGCCTCCCGC -3'

Sequencing Primer
(F):5'- CACAGTCCTTGTAGTGGTGTGC -3'
(R):5'- TCCCGCTGTGAATGTGGAC -3'
Posted On 2017-08-17