Incidental Mutation 'R4957:3110009E18Rik'
ID 381619
Institutional Source Beutler Lab
Gene Symbol 3110009E18Rik
Ensembl Gene ENSMUSG00000026388
Gene Name RIKEN cDNA 3110009E18 gene
Synonyms
MMRRC Submission 042554-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4957 (G1)
Quality Score 135
Status Validated
Chromosome 1
Chromosomal Location 120048917-120115919 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to T at 120096849 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: A82S
SMART Domains Protein: ENSMUSP00000115887
Gene: ENSMUSG00000026388
AA Change: A82S

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T A 2: 152,286,013 (GRCm39) V342D probably damaging Het
Arhgap33 C T 7: 30,231,786 (GRCm39) G101R probably damaging Het
Atf7ip C T 6: 136,583,808 (GRCm39) R1280C probably damaging Het
Cacnb4 T C 2: 52,448,303 (GRCm39) H8R probably damaging Het
Ccdc150 T A 1: 54,404,027 (GRCm39) probably benign Het
Cd74 A G 18: 60,942,109 (GRCm39) N113D probably benign Het
Cdc25b T C 2: 131,035,525 (GRCm39) V341A possibly damaging Het
Clptm1l T A 13: 73,759,315 (GRCm39) I245N possibly damaging Het
Clptm1l T C 13: 73,760,547 (GRCm39) I310T probably damaging Het
Creb5 A T 6: 53,670,907 (GRCm39) probably null Het
Crebbp T C 16: 3,935,231 (GRCm39) Q460R probably benign Het
Dnah17 A T 11: 117,965,124 (GRCm39) I2306N probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Elovl1 A T 4: 118,289,120 (GRCm39) H215L probably damaging Het
Enkd1 A G 8: 106,431,121 (GRCm39) I202T probably benign Het
Epha7 C T 4: 28,871,892 (GRCm39) A407V probably damaging Het
Ercc3 G T 18: 32,376,170 (GRCm39) G130W probably damaging Het
Fbxl8 A G 8: 105,994,827 (GRCm39) E113G probably damaging Het
Frmpd1 T G 4: 45,273,099 (GRCm39) N339K probably damaging Het
Frrs1 G A 3: 116,678,897 (GRCm39) D240N probably benign Het
Gemin2 A G 12: 59,063,954 (GRCm39) S105G probably benign Het
Glra1 T A 11: 55,418,224 (GRCm39) I257F probably damaging Het
Gmcl1 G A 6: 86,687,503 (GRCm39) P354S probably damaging Het
Gpr15 G T 16: 58,538,537 (GRCm39) A184E probably damaging Het
Grm7 G A 6: 111,335,824 (GRCm39) G745E probably damaging Het
H2-T10 T A 17: 36,428,308 (GRCm39) probably benign Het
Hdac5 C A 11: 102,096,082 (GRCm39) probably benign Het
Ift22 G A 5: 136,937,070 (GRCm39) probably benign Het
Ighg3 T C 12: 113,324,750 (GRCm39) E34G unknown Het
Itga11 A T 9: 62,674,930 (GRCm39) T821S probably benign Het
Lmod2 T C 6: 24,603,871 (GRCm39) V282A possibly damaging Het
Maml2 A G 9: 13,531,572 (GRCm39) K262R probably damaging Het
Mme T A 3: 63,250,910 (GRCm39) probably benign Het
Mnat1 A G 12: 73,170,652 (GRCm39) Y14C probably damaging Het
Mtdh A T 15: 34,083,281 (GRCm39) T34S possibly damaging Het
Ncaph T C 2: 126,963,177 (GRCm39) D352G possibly damaging Het
Or2t43 A G 11: 58,457,344 (GRCm39) Y276H probably damaging Het
Or4f17-ps1 C A 2: 111,358,569 (GRCm39) N321K probably benign Het
Or5m9b T A 2: 85,905,854 (GRCm39) Y257N probably damaging Het
Or9g8 T C 2: 85,607,459 (GRCm39) F177S probably damaging Het
Pcdhb13 T A 18: 37,577,837 (GRCm39) D738E possibly damaging Het
Pla2g4f C T 2: 120,130,980 (GRCm39) R825Q probably benign Het
Pnliprp2 C T 19: 58,763,577 (GRCm39) L409F possibly damaging Het
Prlr G T 15: 10,319,281 (GRCm39) C70F probably damaging Het
Ptpn14 C T 1: 189,583,469 (GRCm39) T772I probably benign Het
Ryr2 T C 13: 11,799,966 (GRCm39) Q927R probably damaging Het
Scarf1 A G 11: 75,416,460 (GRCm39) E634G probably benign Het
Scart1 T C 7: 139,808,435 (GRCm39) V782A probably damaging Het
Skic3 T G 13: 76,333,232 (GRCm39) probably null Het
Slc39a14 A T 14: 70,553,260 (GRCm39) S158R probably damaging Het
Slc9c1 A T 16: 45,365,194 (GRCm39) T176S probably benign Het
Srsf10 T C 4: 135,583,541 (GRCm39) S2P probably damaging Het
Tcam1 T A 11: 106,173,705 (GRCm39) C50S probably damaging Het
Tcf7l2 A G 19: 55,919,864 (GRCm39) probably null Het
Tdrd3 T A 14: 87,743,223 (GRCm39) H390Q probably benign Het
Tlk2 T C 11: 105,144,185 (GRCm39) probably null Het
Tnc G C 4: 63,894,793 (GRCm39) P1531R probably damaging Het
Tnfrsf1b C A 4: 144,973,327 (GRCm39) Q15H probably damaging Het
Tnfrsf1b T G 4: 144,973,328 (GRCm39) Q15P possibly damaging Het
Tssk4 A T 14: 55,889,266 (GRCm39) E264V probably damaging Het
Ugt3a1 G A 15: 9,365,274 (GRCm39) V296I probably benign Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vmn2r8 T G 5: 108,947,129 (GRCm39) E541A probably benign Het
Ybx1 A T 4: 119,136,135 (GRCm39) probably benign Het
Zfp39 T A 11: 58,782,057 (GRCm39) Y235F possibly damaging Het
Zfp422 T A 6: 116,603,904 (GRCm39) K32* probably null Het
Zpbp2 T A 11: 98,442,150 (GRCm39) probably null 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 1 120,096,840 (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'- GTGCAAACAGAAACTGTCTTCC -3'

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