Incidental Mutation 'R8930:1700014D04Rik'
ID 680267
Institutional Source Beutler Lab
Gene Symbol 1700014D04Rik
Ensembl Gene ENSMUSG00000051054
Gene Name RIKEN cDNA 1700014D04 gene
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock # R8930 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 59740842-59746752 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 59742201 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 184 (E184K)
Ref Sequence ENSEMBL: ENSMUSP00000052403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055343] [ENSMUST00000178508] [ENSMUST00000180139]
AlphaFold J3QMS2
Predicted Effect possibly damaging
Transcript: ENSMUST00000055343
AA Change: E184K

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000052403
Gene: ENSMUSG00000051054
AA Change: E184K

DomainStartEndE-ValueType
low complexity region 204 215 N/A INTRINSIC
low complexity region 253 264 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178508
SMART Domains Protein: ENSMUSP00000136897
Gene: ENSMUSG00000051054

DomainStartEndE-ValueType
Pfam:FAM75 66 99 7.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180139
AA Change: E602K

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: E602K

DomainStartEndE-ValueType
Pfam:FAM75 66 439 6.9e-97 PFAM
low complexity region 622 633 N/A INTRINSIC
low complexity region 671 693 N/A INTRINSIC
low complexity region 737 763 N/A INTRINSIC
low complexity region 824 835 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,629,693 probably null Het
Abl2 A G 1: 156,633,832 T435A probably damaging Het
Adamtsl3 C T 7: 82,611,861 P29S Het
Ankrd11 C T 8: 122,895,979 R378K probably damaging Het
Arap1 G A 7: 101,408,117 R1355Q possibly damaging Het
Ass1 T A 2: 31,492,375 M186K probably damaging Het
Bckdk A G 7: 127,908,010 D312G probably benign Het
Btg3 T A 16: 78,373,410 N3I probably benign Het
C87414 T G 5: 93,638,085 D112A probably benign Het
Cd163 T C 6: 124,317,923 F649L probably damaging Het
Cdh1 ACTCGAAATGATGTGGCTC ACTC 8: 106,666,238 probably benign Het
Cnksr3 A T 10: 7,160,780 V27E probably damaging Het
Col12a1 A T 9: 79,673,383 S1512T probably benign Het
Cstf1 A G 2: 172,375,703 T79A probably benign Het
Defa24 T C 8: 21,735,357 Y88H probably benign Het
Dgkz C T 2: 91,939,570 R389Q probably damaging Het
Dsg3 T A 18: 20,539,661 D796E probably damaging Het
Dyrk3 G T 1: 131,129,556 D293E probably damaging Het
Epb42 T C 2: 121,024,286 D606G probably benign Het
Erich5 G A 15: 34,453,698 G18S probably benign Het
Fam196a A G 7: 134,899,152 I408T probably damaging Het
Fam196b T C 11: 34,402,707 S250P probably benign Het
Fam8a1 C T 13: 46,674,392 T352M probably benign Het
Fastkd3 T A 13: 68,583,716 L52Q probably benign Het
Fat3 G A 9: 15,999,523 H1728Y probably benign Het
Fgl1 A G 8: 41,209,831 V39A probably benign Het
Gm7298 T C 6: 121,765,071 V484A probably benign Het
Gpr75 A G 11: 30,892,571 Q492R possibly damaging Het
Hoxc8 A G 15: 102,990,886 H36R possibly damaging Het
Isy1 T C 6: 87,821,531 I214V probably damaging Het
Kdm5b C T 1: 134,616,272 P853L probably damaging Het
Man2b1 A G 8: 85,095,393 T746A probably damaging Het
Mast3 A T 8: 70,781,733 probably benign Het
Mki67 A G 7: 135,698,899 S1469P possibly damaging Het
Mrps30 C T 13: 118,387,159 A26T probably benign Het
Mup10 T A 4: 60,580,709 T92S possibly damaging Het
Otud7a A G 7: 63,757,491 D514G possibly damaging Het
Pacs1 T A 19: 5,135,002 S932C probably damaging Het
Pbx2 C T 17: 34,594,589 R188C probably damaging Het
Pclo C T 5: 14,712,975 P536S possibly damaging Het
Pdxdc1 A T 16: 13,854,405 I377N probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 probably benign Het
Phip T C 9: 82,906,988 K758E possibly damaging Het
Ptprm C T 17: 66,956,851 R467H probably benign Het
Scnn1b C T 7: 121,902,844 R242C probably damaging Het
Seh1l T C 18: 67,775,064 S19P possibly damaging Het
Slc28a1 T A 7: 81,167,967 V528D probably benign Het
Slc6a17 G T 3: 107,472,191 Q554K probably benign Het
Spag16 G A 1: 70,299,769 probably null Het
Srfbp1 T A 18: 52,490,045 N377K possibly damaging Het
Stap2 A G 17: 55,997,895 S296P probably benign Het
Tnr A T 1: 159,912,789 I1178F probably damaging Het
Tomt C T 7: 101,901,143 A139T probably damaging Het
Trak2 T C 1: 58,935,808 Q75R probably benign Het
Tulp1 T C 17: 28,364,494 K58E probably benign Het
Utp6 A G 11: 79,943,229 probably null Het
Vmn1r21 T C 6: 57,844,013 T149A probably benign Het
Vmn1r238 C T 18: 3,123,127 V96M probably benign Het
Vmn1r9 T A 6: 57,071,681 I247N probably damaging Het
Vps33b T C 7: 80,282,493 C138R possibly damaging Het
Wnk1 A T 6: 119,963,265 V837E probably damaging Het
Xirp2 C T 2: 67,482,363 H59Y possibly damaging Het
Zbtb38 G T 9: 96,686,381 D883E probably benign Het
Zbtb7a C A 10: 81,144,534 D187E probably benign Het
Zfp511 T C 7: 140,037,529 V148A probably damaging Het
Zfp52 A G 17: 21,560,430 D180G possibly damaging Het
Other mutations in 1700014D04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB010:1700014D04Rik UTSW 13 59743751 missense probably damaging 1.00
BB020:1700014D04Rik UTSW 13 59743751 missense probably damaging 1.00
R0838:1700014D04Rik UTSW 13 59742468 missense possibly damaging 0.75
R1483:1700014D04Rik UTSW 13 59742903 missense probably damaging 0.99
R1794:1700014D04Rik UTSW 13 59742620 missense probably benign 0.22
R1842:1700014D04Rik UTSW 13 59742506 missense probably damaging 1.00
R1969:1700014D04Rik UTSW 13 59742785 missense probably damaging 0.98
R2027:1700014D04Rik UTSW 13 59742587 missense possibly damaging 0.48
R2206:1700014D04Rik UTSW 13 59743106 missense probably benign 0.40
R2207:1700014D04Rik UTSW 13 59743106 missense probably benign 0.40
R2882:1700014D04Rik UTSW 13 59742943 missense probably benign 0.00
R3508:1700014D04Rik UTSW 13 59742505 nonsense probably null
R4447:1700014D04Rik UTSW 13 59742198 missense probably benign 0.03
R4560:1700014D04Rik UTSW 13 59741757 missense probably damaging 1.00
R4846:1700014D04Rik UTSW 13 59742233 missense probably benign 0.00
R5186:1700014D04Rik UTSW 13 59743739 missense probably damaging 1.00
R5510:1700014D04Rik UTSW 13 59742420 splice site probably null
R5580:1700014D04Rik UTSW 13 59742256 missense probably benign 0.00
R5752:1700014D04Rik UTSW 13 59743202 missense probably damaging 0.96
R6266:1700014D04Rik UTSW 13 59742312 missense probably benign 0.33
R6267:1700014D04Rik UTSW 13 59742683 missense probably benign 0.13
R6296:1700014D04Rik UTSW 13 59742683 missense probably benign 0.13
R6939:1700014D04Rik UTSW 13 59742058 missense possibly damaging 0.75
R6973:1700014D04Rik UTSW 13 59742707 missense probably benign 0.14
R7107:1700014D04Rik UTSW 13 59742183 nonsense probably null
R7123:1700014D04Rik UTSW 13 59743440 nonsense probably null
R7254:1700014D04Rik UTSW 13 59741976 missense probably benign 0.01
R7354:1700014D04Rik UTSW 13 59741834 nonsense probably null
R7536:1700014D04Rik UTSW 13 59741742 missense probably damaging 0.99
R7729:1700014D04Rik UTSW 13 59741623 missense not run
R7912:1700014D04Rik UTSW 13 59742515 missense probably damaging 1.00
R7933:1700014D04Rik UTSW 13 59743751 missense probably damaging 1.00
R8029:1700014D04Rik UTSW 13 59742377 missense possibly damaging 0.79
R8347:1700014D04Rik UTSW 13 59742236 missense possibly damaging 0.63
R8370:1700014D04Rik UTSW 13 59743952 missense probably benign
R8395:1700014D04Rik UTSW 13 59741726 missense probably benign 0.00
R8508:1700014D04Rik UTSW 13 59743598 missense probably benign 0.02
R8932:1700014D04Rik UTSW 13 59742201 missense possibly damaging 0.76
R9127:1700014D04Rik UTSW 13 59743014 missense probably benign 0.00
R9262:1700014D04Rik UTSW 13 59742588 missense probably benign 0.00
R9401:1700014D04Rik UTSW 13 59742198 missense probably benign 0.03
R9514:1700014D04Rik UTSW 13 59742992 missense probably damaging 0.96
X0024:1700014D04Rik UTSW 13 59742725 missense probably damaging 1.00
Predicted Primers
Posted On 2021-08-31