Incidental Mutation 'R8921:E030018B13Rik'
ID 679250
Institutional Source Beutler Lab
Gene Symbol E030018B13Rik
Ensembl Gene ENSMUSG00000095061
Gene Name RIKEN cDNA E030018B13 gene
Synonyms LOC381994
MMRRC Submission 068707-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R8921 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 63566605-63570287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 63569727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 84 (Q84K)
Ref Sequence ENSEMBL: ENSMUSP00000136435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063694] [ENSMUST00000177638] [ENSMUST00000183817] [ENSMUST00000185175]
AlphaFold J3QMS9
Predicted Effect probably benign
Transcript: ENSMUST00000063694
SMART Domains Protein: ENSMUSP00000067680
Gene: ENSMUSG00000052040

DomainStartEndE-ValueType
low complexity region 26 43 N/A INTRINSIC
low complexity region 74 92 N/A INTRINSIC
low complexity region 98 133 N/A INTRINSIC
low complexity region 144 158 N/A INTRINSIC
ZnF_C2H2 168 192 3.83e-2 SMART
ZnF_C2H2 198 222 1.82e-3 SMART
ZnF_C2H2 228 250 2.75e-3 SMART
low complexity region 260 289 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000177638
AA Change: Q84K
SMART Domains Protein: ENSMUSP00000136435
Gene: ENSMUSG00000095061
AA Change: Q84K

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183817
SMART Domains Protein: ENSMUSP00000139049
Gene: ENSMUSG00000052040

DomainStartEndE-ValueType
ZnF_C2H2 29 53 1.82e-3 SMART
ZnF_C2H2 59 81 2.75e-3 SMART
low complexity region 91 120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185175
SMART Domains Protein: ENSMUSP00000140381
Gene: ENSMUSG00000052040

DomainStartEndE-ValueType
low complexity region 23 52 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (79/79)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik T A 11: 3,844,933 (GRCm39) E52V probably benign Het
4930516K23Rik G A 7: 103,708,083 (GRCm39) T242M probably damaging Het
Abcg5 T A 17: 84,990,253 (GRCm39) I17F probably benign Het
Adam25 T A 8: 41,207,710 (GRCm39) Y325* probably null Het
Adamts16 C T 13: 70,939,910 (GRCm39) probably benign Het
Akr1b1 A T 6: 34,289,639 (GRCm39) V57E probably benign Het
Api5 A G 2: 94,255,374 (GRCm39) L267P probably damaging Het
Asap3 T C 4: 135,963,726 (GRCm39) Y329H probably benign Het
Atp13a4 C T 16: 29,273,592 (GRCm39) R442K Het
Cadps2 T C 6: 23,302,300 (GRCm39) D1129G probably benign Het
Cd79b T A 11: 106,203,632 (GRCm39) Q145L probably benign Het
Cdh23 C T 10: 60,140,908 (GRCm39) E3147K probably damaging Het
Cfap251 A G 5: 123,424,481 (GRCm39) D722G possibly damaging Het
Col4a4 A G 1: 82,431,533 (GRCm39) W1584R unknown Het
Cops8 T C 1: 90,532,155 (GRCm39) L46P probably damaging Het
Cpne1 T C 2: 155,913,965 (GRCm39) Y146C probably benign Het
Ctdnep1 T A 11: 69,875,311 (GRCm39) V80E probably damaging Het
Cttnbp2 A G 6: 18,434,877 (GRCm39) I327T probably benign Het
Cyp4a32 T C 4: 115,468,460 (GRCm39) V314A probably damaging Het
Dlgap3 C A 4: 127,127,463 (GRCm39) H710Q probably damaging Het
Dnah9 T C 11: 65,802,747 (GRCm39) M3448V probably benign Het
Efna5 A G 17: 63,188,053 (GRCm39) S25P possibly damaging Het
Egfl8 T G 17: 34,833,751 (GRCm39) T76P probably damaging Het
Endod1 A G 9: 14,268,942 (GRCm39) L181P probably damaging Het
Epha3 A G 16: 63,472,838 (GRCm39) L349P possibly damaging Het
Fam161b T A 12: 84,395,056 (GRCm39) T553S probably benign Het
Fmnl1 T C 11: 103,087,967 (GRCm39) F981L unknown Het
Galr2 T A 11: 116,173,973 (GRCm39) V201E probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Greb1l T C 18: 10,541,825 (GRCm39) S1191P probably benign Het
Hmg20b T C 10: 81,184,821 (GRCm39) R84G probably damaging Het
Inppl1 T C 7: 101,472,593 (GRCm39) D1234G possibly damaging Het
Insl5 A G 4: 102,883,760 (GRCm39) S54P probably damaging Het
Itpr1 T A 6: 108,355,159 (GRCm39) F483L possibly damaging Het
Kif21a T C 15: 90,855,930 (GRCm39) E609G probably benign Het
Kpna7 A T 5: 144,941,840 (GRCm39) V150D probably damaging Het
L1td1 T A 4: 98,622,175 (GRCm39) C246S possibly damaging Het
Laptm4a T A 12: 8,988,139 (GRCm39) M292K possibly damaging Het
Lefty2 C G 1: 180,725,043 (GRCm39) P258A possibly damaging Het
Map4k1 G A 7: 28,701,052 (GRCm39) V719M probably damaging Het
Nbas T A 12: 13,463,590 (GRCm39) H1292Q probably benign Het
Nfkbia C T 12: 55,537,340 (GRCm39) G250S probably damaging Het
Nkain3 T C 4: 20,245,902 (GRCm39) T163A unknown Het
Npcd T C 15: 79,713,163 (GRCm39) E88G probably benign Het
Oas1f A T 5: 120,989,556 (GRCm39) Y165F probably benign Het
Or10d4 T A 9: 39,580,737 (GRCm39) L128* probably null Het
Or51aa5 A G 7: 103,167,030 (GRCm39) I187T possibly damaging Het
Or52e2 T C 7: 102,804,660 (GRCm39) D98G probably benign Het
Phtf2 T C 5: 21,008,275 (GRCm39) I135M probably benign Het
Pi4ka T C 16: 17,125,604 (GRCm39) E1177G Het
Polr3gl A T 3: 96,485,833 (GRCm39) D214E probably damaging Het
Pramel25 C T 4: 143,519,322 (GRCm39) Q28* probably null Het
Pramel51 T C 12: 88,143,952 (GRCm39) E295G probably benign Het
Prkar1a C A 11: 109,556,744 (GRCm39) Q275K probably benign Het
Ptprc A G 1: 138,054,039 (GRCm39) probably null Het
Pwwp2a C A 11: 43,596,344 (GRCm39) P503Q probably damaging Het
Rad17 T C 13: 100,754,192 (GRCm39) probably benign Het
Rapgef6 T C 11: 54,570,065 (GRCm39) L1146S probably benign Het
Rara C A 11: 98,864,452 (GRCm39) Q460K unknown Het
Rassf4 C T 6: 116,638,897 (GRCm39) probably benign Het
Rere A G 4: 150,696,471 (GRCm39) D492G unknown Het
Selenon T G 4: 134,268,153 (GRCm39) K460T possibly damaging Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Slc35e1 T C 8: 73,241,988 (GRCm39) T245A probably benign Het
Stat4 C T 1: 52,144,892 (GRCm39) A726V probably benign Het
Stim1 G T 7: 102,070,597 (GRCm39) V277L probably damaging Het
Strbp A G 2: 37,514,503 (GRCm39) probably null Het
Tln2 T C 9: 67,174,105 (GRCm39) Y860C probably damaging Het
Tmod4 T A 3: 95,033,289 (GRCm39) probably null Het
Tpm3-rs7 T C 14: 113,552,493 (GRCm39) V129A probably benign Het
Trp53bp2 C T 1: 182,273,971 (GRCm39) P41S Het
Tubal3 G A 13: 3,983,428 (GRCm39) D403N probably damaging Het
Zfp369 T C 13: 65,444,044 (GRCm39) S396P possibly damaging Het
Zfp976 G A 7: 42,262,575 (GRCm39) H422Y possibly damaging Het
Other mutations in E030018B13Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4384:E030018B13Rik UTSW 7 63,569,141 (GRCm39) intron probably benign
R8095:E030018B13Rik UTSW 7 63,569,049 (GRCm39) missense unknown
R9778:E030018B13Rik UTSW 7 63,569,125 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCATGTCACTTACCCAGCAC -3'
(R):5'- CCTCCCTGGTCTTGATGTGTAG -3'

Sequencing Primer
(F):5'- TTACCCAGCACTTCCTAATCATAC -3'
(R):5'- GTAGAGAAGCCTAGGTAACCCAC -3'
Posted On 2021-08-02