Incidental Mutation 'R5876:1700034E13Rik'
ID 455562
Institutional Source Beutler Lab
Gene Symbol 1700034E13Rik
Ensembl Gene ENSMUSG00000024532
Gene Name RIKEN cDNA 1700034E13 gene
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # R5876 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 52779292-52796803 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52796654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 64 (D64G)
Ref Sequence ENSEMBL: ENSMUSP00000112845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091904] [ENSMUST00000118724]
AlphaFold Q9D2T6
Predicted Effect possibly damaging
Transcript: ENSMUST00000091904
AA Change: D64G

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000089518
Gene: ENSMUSG00000024532
AA Change: D64G

DomainStartEndE-ValueType
Pfam:zf-C2HC_2 6 30 1.7e-10 PFAM
low complexity region 39 55 N/A INTRINSIC
Pfam:zf-C2HC_2 79 103 1e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000118724
AA Change: D64G

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112845
Gene: ENSMUSG00000024532
AA Change: D64G

DomainStartEndE-ValueType
Pfam:zf-C2HC_2 6 30 2e-10 PFAM
low complexity region 39 55 N/A INTRINSIC
Pfam:zf-C2HC_2 79 103 1.1e-13 PFAM
Pfam:zf-C2H2 82 102 3.2e-3 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano2 T A 6: 126,016,242 (GRCm39) M925K possibly damaging Het
Arnt2 T C 7: 83,996,720 (GRCm39) T69A probably damaging Het
Asap2 T A 12: 21,262,810 (GRCm39) N229K possibly damaging Het
Atp13a3 T A 16: 30,181,552 (GRCm39) N23Y probably benign Het
Cbr4 G A 8: 61,943,627 (GRCm39) G91R possibly damaging Het
Cdc27 A T 11: 104,406,244 (GRCm39) C624S probably benign Het
Cdc42bpg T A 19: 6,360,845 (GRCm39) I201N probably damaging Het
Cdh5 A G 8: 104,869,209 (GRCm39) Y645C probably damaging Het
Celsr2 C T 3: 108,321,259 (GRCm39) V518I probably damaging Het
Clca4b T C 3: 144,617,821 (GRCm39) T761A possibly damaging Het
Cpne4 C A 9: 104,802,969 (GRCm39) S204R probably damaging Het
Dcaf1 T C 9: 106,740,849 (GRCm39) W1279R probably damaging Het
Dennd4a C T 9: 64,819,037 (GRCm39) P1731S probably damaging Het
Dmxl1 T A 18: 50,004,051 (GRCm39) V892D possibly damaging Het
Fam131b A G 6: 42,298,182 (GRCm39) probably null Het
Fam83b T A 9: 76,399,132 (GRCm39) D657V possibly damaging Het
Fam83e T A 7: 45,371,787 (GRCm39) probably null Het
Fbxo4 A T 15: 4,007,301 (GRCm39) I121N probably damaging Het
Gabrg2 A G 11: 41,859,647 (GRCm39) S202P probably damaging Het
Grid2 T A 6: 64,640,146 (GRCm39) I788N probably damaging Het
Grik4 T A 9: 42,599,319 (GRCm39) N53Y probably damaging Het
Hipk2 A C 6: 38,707,802 (GRCm39) probably null Het
Hps5 T C 7: 46,438,620 (GRCm39) T38A probably damaging Het
Hs1bp3 A G 12: 8,391,843 (GRCm39) D315G possibly damaging Het
Kdm4a C T 4: 117,996,073 (GRCm39) M985I probably damaging Het
Kdm5d A G Y: 900,525 (GRCm39) Y190C probably damaging Het
Krt86 T C 15: 101,374,491 (GRCm39) S295P probably damaging Het
Matr3 T A 18: 35,720,791 (GRCm39) D413E probably benign Het
Mbd5 T A 2: 49,164,657 (GRCm39) F319L probably damaging Het
Mcoln1 T A 8: 3,560,910 (GRCm39) Y411N probably damaging Het
Mpdz C A 4: 81,203,711 (GRCm39) E1863* probably null Het
Mrps9 A G 1: 42,934,538 (GRCm39) E173G probably damaging Het
Or7a42 A T 10: 78,791,191 (GRCm39) I51F probably benign Het
Osmr T C 15: 6,850,528 (GRCm39) T692A probably benign Het
Pkhd1l1 A T 15: 44,441,984 (GRCm39) H3641L possibly damaging Het
Pml T C 9: 58,140,465 (GRCm39) T421A possibly damaging Het
Podxl A G 6: 31,505,391 (GRCm39) probably null Het
Ppargc1b C G 18: 61,442,164 (GRCm39) D591H probably damaging Het
Prkag3 A G 1: 74,787,975 (GRCm39) probably benign Het
Proz A G 8: 13,123,448 (GRCm39) R240G probably benign Het
Ptpn13 C A 5: 103,624,826 (GRCm39) D43E probably damaging Het
Rbm5 T G 9: 107,637,525 (GRCm39) K135N probably damaging Het
Ska1 G A 18: 74,330,599 (GRCm39) T201M probably damaging Het
Slc35f5 A C 1: 125,515,100 (GRCm39) probably null Het
Slc9a3 T C 13: 74,309,842 (GRCm39) L510P probably damaging Het
Speer4a2 T C 5: 26,289,716 (GRCm39) E237G probably damaging Het
Svil A G 18: 5,082,828 (GRCm39) K1231E probably damaging Het
Tanc2 T C 11: 105,813,439 (GRCm39) S1628P possibly damaging Het
Tm9sf3 T A 19: 41,229,023 (GRCm39) D260V probably damaging Het
Ttc9 G T 12: 81,678,396 (GRCm39) R73L probably damaging Het
Vps13b A G 15: 35,917,207 (GRCm39) I3684V probably damaging Het
Vps8 T C 16: 21,280,189 (GRCm39) probably null Het
Vwa3b T A 1: 37,115,520 (GRCm39) I328N probably damaging Het
Wdr1 C T 5: 38,687,366 (GRCm39) V222M probably benign Het
Xpnpep1 T A 19: 52,985,439 (GRCm39) T530S probably damaging Het
Zc3h6 C T 2: 128,835,197 (GRCm39) S111F probably benign Het
Zfp768 G A 7: 126,943,718 (GRCm39) P137S probably benign Het
Other mutations in 1700034E13Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02661:1700034E13Rik APN 18 52,793,566 (GRCm39) missense probably damaging 1.00
R1741:1700034E13Rik UTSW 18 52,793,578 (GRCm39) missense probably damaging 1.00
R6852:1700034E13Rik UTSW 18 52,796,705 (GRCm39) missense probably damaging 0.97
R7445:1700034E13Rik UTSW 18 52,793,553 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGTGATTGACTTGAAAACACCAG -3'
(R):5'- GGCGTTCACTCCTATCACAC -3'

Sequencing Primer
(F):5'- CACCAGTCAAAAGGTATTCTCTGTG -3'
(R):5'- CACACTCGGTGCTGAGGAAAG -3'
Posted On 2017-02-10