Incidental Mutation 'R4955:3110009E18Rik'
ID 381512
Institutional Source Beutler Lab
Gene Symbol 3110009E18Rik
Ensembl Gene ENSMUSG00000026388
Gene Name RIKEN cDNA 3110009E18 gene
Synonyms
MMRRC Submission 042552-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4955 (G1)
Quality Score 213
Status Validated
Chromosome 1
Chromosomal Location 120048917-120115919 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to C at 120096840 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 benign
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 unknown
Transcript: ENSMUST00000153037
AA Change: E79Q
SMART Domains Protein: ENSMUSP00000115887
Gene: ENSMUSG00000026388
AA Change: E79Q

DomainStartEndE-ValueType
Pfam:DUF2340 1 61 1.6e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187809
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T A 1: 85,859,008 (GRCm39) probably benign Het
Abca8a T G 11: 109,927,338 (GRCm39) E1338D probably benign Het
Arl2bp G A 8: 95,397,056 (GRCm39) probably null Het
Arsj T C 3: 126,232,189 (GRCm39) Y312H probably benign Het
Atp8b2 G T 3: 89,860,227 (GRCm39) probably benign Het
Cdh20 T C 1: 104,912,528 (GRCm39) V594A probably damaging Het
Cfap44 T A 16: 44,295,640 (GRCm39) V1646E possibly damaging Het
Csmd3 A T 15: 48,536,914 (GRCm39) I96K probably damaging Het
Fbn2 T C 18: 58,191,455 (GRCm39) Q1556R possibly damaging Het
Fstl5 T A 3: 76,131,183 (GRCm39) probably null Het
H4c9 T A 13: 22,225,355 (GRCm39) I47F probably damaging Het
Hivep2 T A 10: 14,006,702 (GRCm39) M1100K probably benign Het
Ing4 C T 6: 125,025,164 (GRCm39) A225V probably damaging Het
Kcnc3 CTT CT 7: 44,240,720 (GRCm39) probably null Het
Khdrbs2 T A 1: 32,559,158 (GRCm39) probably benign Het
Kif21a A T 15: 90,821,393 (GRCm39) W1566R probably damaging Het
Lrfn5 A C 12: 61,886,764 (GRCm39) D184A probably benign Het
Mettl2 C T 11: 105,028,605 (GRCm39) T319I possibly damaging Het
Mgrn1 T C 16: 4,752,083 (GRCm39) V529A probably benign Het
Naca T A 10: 127,878,084 (GRCm39) probably benign Het
Ninj2 A G 6: 120,174,907 (GRCm39) N26S probably damaging Het
Nqo1 A G 8: 108,115,489 (GRCm39) S263P probably benign Het
Obscn T C 11: 58,959,998 (GRCm39) T3566A probably benign Het
Opn5 A T 17: 42,922,129 (GRCm39) F24L probably damaging Het
Or14j8 T C 17: 38,263,789 (GRCm39) N42S probably damaging Het
Or2t43 A G 11: 58,457,344 (GRCm39) Y276H probably damaging Het
Or4k41 A T 2: 111,279,950 (GRCm39) H155L probably damaging Het
Or52a20 A T 7: 103,365,912 (GRCm39) Y37F probably benign Het
Palmd A G 3: 116,717,873 (GRCm39) V208A probably damaging Het
Plekhd1 T A 12: 80,768,795 (GRCm39) I426N possibly damaging Het
Polq T G 16: 36,881,444 (GRCm39) Y1203D probably benign Het
Prex1 A G 2: 166,415,143 (GRCm39) F251S probably damaging Het
Prkd3 T C 17: 79,260,156 (GRCm39) M816V probably null Het
Rab3gap2 C T 1: 184,999,352 (GRCm39) probably benign Het
Rcan2 C A 17: 44,347,972 (GRCm39) P13Q probably damaging Het
Slc35b3 A G 13: 39,116,866 (GRCm39) V329A probably benign Het
Slc5a1 T C 5: 33,318,246 (GRCm39) M633T probably benign Het
Stac2 A C 11: 97,934,374 (GRCm39) L110R possibly damaging Het
Styxl2 T C 1: 165,935,661 (GRCm39) Y179C probably damaging Het
Tecpr1 T C 5: 144,154,075 (GRCm39) E126G probably damaging Het
Ttll6 A G 11: 96,029,615 (GRCm39) D176G possibly damaging Het
Utrn C T 10: 12,737,311 (GRCm39) probably null Het
Zfp341 T C 2: 154,479,950 (GRCm39) V467A probably damaging 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
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
R6229:3110009E18Rik UTSW 1 120,099,213 (GRCm39) critical splice donor 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'- CTCCAAATGGTAGGGAAGGC -3'
(R):5'- GCTGTGCAAACAGAAACTGTC -3'

Sequencing Primer
(F):5'- AAGGCAAGGGATGGTTCTG -3'
(R):5'- GAAGGTGCCTATGACTTCAGTACC -3'
Posted On 2016-04-27