Incidental Mutation 'R6229:3110009E18Rik'
ID 504531
Institutional Source Beutler Lab
Gene Symbol 3110009E18Rik
Ensembl Gene ENSMUSG00000026388
Gene Name RIKEN cDNA 3110009E18 gene
Synonyms
MMRRC Submission 044358-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6229 (G1)
Quality Score 219.009
Status Validated
Chromosome 1
Chromosomal Location 120048917-120115919 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 120099213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027637] [ENSMUST00000056038] [ENSMUST00000112644]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027637
SMART Domains Protein: ENSMUSP00000027637
Gene: ENSMUSG00000026388

DomainStartEndE-ValueType
Pfam:DUF2340 8 93 3.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056038
SMART Domains Protein: ENSMUSP00000053335
Gene: ENSMUSG00000026388

DomainStartEndE-ValueType
Pfam:DUF2340 8 93 3.7e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112644
SMART Domains Protein: ENSMUSP00000108263
Gene: ENSMUSG00000026388

DomainStartEndE-ValueType
Pfam:DUF2340 8 126 1.4e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128578
Predicted Effect probably benign
Transcript: ENSMUST00000153037
SMART Domains Protein: ENSMUSP00000115887
Gene: ENSMUSG00000026388

DomainStartEndE-ValueType
Pfam:DUF2340 1 61 1.6e-14 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.0%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 G A 13: 104,483,900 (GRCm39) probably null Het
Add3 C A 19: 53,223,277 (GRCm39) A343D probably benign Het
Ankub1 T C 3: 57,572,528 (GRCm39) D398G probably benign Het
Apbb1 C T 7: 105,222,937 (GRCm39) A225T probably damaging Het
Apbb1 C A 7: 105,222,938 (GRCm39) W224C probably damaging Het
Arhgef40 A T 14: 52,227,547 (GRCm39) Q431L probably benign Het
Calm4 A G 13: 3,888,038 (GRCm39) D48G possibly damaging Het
Ccdc18 A T 5: 108,319,484 (GRCm39) I502L probably benign Het
Cftr T C 6: 18,220,683 (GRCm39) S185P probably damaging Het
Chd2 C A 7: 73,101,471 (GRCm39) K1418N possibly damaging Het
Cmya5 A C 13: 93,229,814 (GRCm39) V1758G probably benign Het
Cpsf4l T C 11: 113,599,680 (GRCm39) K35R possibly damaging Het
Cyp2c68 A T 19: 39,727,622 (GRCm39) V119E probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnah3 G T 7: 119,564,711 (GRCm39) Q2651K probably benign Het
Eif4g2 T C 7: 110,676,920 (GRCm39) probably null Het
Enc1 A G 13: 97,381,999 (GRCm39) R170G probably benign Het
Enpp2 T C 15: 54,741,228 (GRCm39) R357G probably damaging Het
Epb41l2 A G 10: 25,375,734 (GRCm39) K58E possibly damaging Het
Fis1 A G 5: 136,994,528 (GRCm39) probably null Het
Fmo9 A C 1: 166,505,126 (GRCm39) M89R possibly damaging Het
Gm6096 A C 7: 33,950,676 (GRCm39) I72L possibly damaging Het
Golga5 G A 12: 102,450,740 (GRCm39) M464I probably benign Het
Got1l1 T C 8: 27,688,464 (GRCm39) probably null Het
Ift56 T A 6: 38,371,975 (GRCm39) N188K probably benign Het
Igfbpl1 A G 4: 45,813,517 (GRCm39) Y233H probably damaging Het
Il18r1 T C 1: 40,513,923 (GRCm39) I43T probably benign Het
Ints8 T C 4: 11,252,891 (GRCm39) N64D probably damaging Het
Kalrn A G 16: 33,875,441 (GRCm39) S44P probably damaging Het
Kif13b G T 14: 64,976,016 (GRCm39) G444W probably damaging Het
Lmo1 A G 7: 108,742,832 (GRCm39) C13R probably damaging Het
Lrfn2 T A 17: 49,404,160 (GRCm39) M761K possibly damaging Het
Lrrd1 T C 5: 3,913,887 (GRCm39) I719T probably damaging Het
Madd A T 2: 90,974,015 (GRCm39) V1423E probably damaging Het
Mbnl1 T A 3: 60,528,749 (GRCm39) probably null Het
Mrps28 T C 3: 8,965,097 (GRCm39) D114G probably damaging Het
Muc6 T A 7: 141,226,792 (GRCm39) M1412L probably benign Het
Myf6 T C 10: 107,330,280 (GRCm39) K96E possibly damaging Het
Myrf A G 19: 10,197,162 (GRCm39) V462A probably benign Het
Nbeal1 T C 1: 60,287,524 (GRCm39) S923P possibly damaging Het
Nckap1l T C 15: 103,381,549 (GRCm39) L430P possibly damaging Het
Nfatc2ip C T 7: 125,995,113 (GRCm39) probably null Het
Or11g24 A G 14: 50,662,662 (GRCm39) R229G probably benign Het
Or12e10 G T 2: 87,640,431 (GRCm39) C89F probably damaging Het
Or2w4 T C 13: 21,795,819 (GRCm39) I107V probably benign Het
Or7g33 T A 9: 19,449,014 (GRCm39) I71F possibly damaging Het
Plin2 A G 4: 86,586,903 (GRCm39) V5A probably benign Het
Pramel31 T C 4: 144,090,199 (GRCm39) M413T probably benign Het
Ptprm T A 17: 66,995,295 (GRCm39) D1311V probably damaging Het
Recql5 A T 11: 115,821,540 (GRCm39) I72N probably damaging Het
Sall2 A T 14: 52,550,648 (GRCm39) M847K probably benign Het
Slc23a1 T C 18: 35,752,577 (GRCm39) R567G probably benign Het
Slc28a1 G A 7: 80,774,753 (GRCm39) R200H probably benign Het
Smc4 T A 3: 68,937,580 (GRCm39) Y843* probably null Het
Syne2 C A 12: 75,967,994 (GRCm39) Q915K probably benign Het
Tas2r131 T A 6: 132,933,985 (GRCm39) I275F probably damaging Het
Tcf20 T C 15: 82,739,081 (GRCm39) H790R probably damaging Het
Tm7sf3 A G 6: 146,514,887 (GRCm39) F310S possibly damaging Het
Tmem9b T A 7: 109,344,627 (GRCm39) probably null Het
Tnfaip8 A G 18: 50,184,742 (GRCm39) probably benign Het
Top2b T G 14: 16,409,838 (GRCm38) L835R probably damaging Het
Trappc8 A T 18: 21,003,802 (GRCm39) S209T probably benign Het
Uap1 C T 1: 169,994,302 (GRCm39) R58Q probably benign Het
Upk3bl A G 5: 136,092,915 (GRCm39) probably null Het
Usp34 A G 11: 23,396,778 (GRCm39) H596R probably damaging Het
Vmn1r181 C T 7: 23,683,580 (GRCm39) A15V probably damaging Het
Vmn2r54 T A 7: 12,365,883 (GRCm39) K350N probably benign Het
Vmn2r89 A G 14: 51,693,178 (GRCm39) H176R probably benign Het
Vwa7 A G 17: 35,243,241 (GRCm39) R640G probably benign Het
Other mutations in 3110009E18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00690:3110009E18Rik APN 1 120,078,336 (GRCm39) unclassified probably benign
IGL00696:3110009E18Rik APN 1 120,099,156 (GRCm39) missense probably damaging 0.98
IGL01482:3110009E18Rik APN 1 120,099,201 (GRCm39) missense probably benign 0.16
IGL01996:3110009E18Rik APN 1 120,078,430 (GRCm39) missense possibly damaging 0.94
R0033:3110009E18Rik UTSW 1 120,115,794 (GRCm39) missense probably damaging 1.00
R0270:3110009E18Rik UTSW 1 120,093,906 (GRCm39) splice site probably benign
R1025:3110009E18Rik UTSW 1 120,099,192 (GRCm39) missense probably damaging 0.97
R1535:3110009E18Rik UTSW 1 120,099,203 (GRCm39) missense possibly damaging 0.52
R4676:3110009E18Rik UTSW 1 120,078,382 (GRCm39) missense probably damaging 1.00
R4955:3110009E18Rik UTSW 1 120,096,850 (GRCm39) intron probably benign
R4955:3110009E18Rik UTSW 1 120,096,849 (GRCm39) intron probably benign
R4955:3110009E18Rik UTSW 1 120,096,840 (GRCm39) intron probably benign
R4956:3110009E18Rik UTSW 1 120,096,850 (GRCm39) intron probably benign
R4956:3110009E18Rik UTSW 1 120,096,849 (GRCm39) intron probably benign
R4956:3110009E18Rik UTSW 1 120,096,840 (GRCm39) intron probably benign
R4957:3110009E18Rik UTSW 1 120,096,850 (GRCm39) intron probably benign
R4957:3110009E18Rik UTSW 1 120,096,849 (GRCm39) intron probably benign
R4957:3110009E18Rik UTSW 1 120,096,840 (GRCm39) intron probably benign
R5866:3110009E18Rik UTSW 1 120,096,814 (GRCm39) intron probably benign
R6151:3110009E18Rik UTSW 1 120,099,216 (GRCm39) splice site probably null
R8187:3110009E18Rik UTSW 1 120,115,913 (GRCm39) makesense probably null
R8498:3110009E18Rik UTSW 1 120,096,872 (GRCm39) splice site probably null
R9049:3110009E18Rik UTSW 1 120,115,900 (GRCm39) missense probably null
R9075:3110009E18Rik UTSW 1 120,097,014 (GRCm39) missense
R9211:3110009E18Rik UTSW 1 120,099,161 (GRCm39) missense possibly damaging 0.74
R9492:3110009E18Rik UTSW 1 120,078,472 (GRCm39) missense probably damaging 0.99
R9564:3110009E18Rik UTSW 1 120,097,006 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GTGTGTATATGCTGGGCTCC -3'
(R):5'- AAACCTGAAAAGGACTATTTGCATTCT -3'

Sequencing Primer
(F):5'- TACATAGCACGGGGTTCTGAACTC -3'
(R):5'- CAGAGATGCTATCAGCCA -3'
Posted On 2018-02-28