Incidental Mutation 'R1535:3110009E18Rik'
ID 166857
Institutional Source Beutler Lab
Gene Symbol 3110009E18Rik
Ensembl Gene ENSMUSG00000026388
Gene Name RIKEN cDNA 3110009E18 gene
Synonyms
MMRRC Submission 039574-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R1535 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 120048917-120115919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120099203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 99 (S99P)
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 possibly damaging
Transcript: ENSMUST00000112644
AA Change: S99P

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108263
Gene: ENSMUSG00000026388
AA Change: S99P

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.2%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,139,928 (GRCm39) I1530N probably benign Het
Abcc9 T G 6: 142,610,361 (GRCm39) Q601P probably damaging Het
Acap3 A G 4: 155,980,631 (GRCm39) probably benign Het
Adamts16 A T 13: 70,939,913 (GRCm39) probably null Het
Alpk2 G C 18: 65,483,275 (GRCm39) S244R probably benign Het
Aoc1l1 T C 6: 48,952,398 (GRCm39) F108L probably damaging Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
Bend5 C A 4: 111,316,960 (GRCm39) D374E probably benign Het
Catsperg2 T C 7: 29,397,671 (GRCm39) D1014G possibly damaging Het
Ccer2 G T 7: 28,456,822 (GRCm39) G189* probably null Het
Ces2h A G 8: 105,741,118 (GRCm39) T37A probably benign Het
Cfap68 C T 9: 50,675,307 (GRCm39) R40Q probably damaging Het
Cmah T C 13: 24,623,203 (GRCm39) F213L probably damaging Het
Cntn2 T C 1: 132,453,122 (GRCm39) E390G probably benign Het
Coq7 C T 7: 118,128,897 (GRCm39) R46Q possibly damaging Het
Cpb1 T A 3: 20,320,451 (GRCm39) D136V probably benign Het
Cxcr2 T C 1: 74,198,217 (GRCm39) L237P probably damaging Het
Daam1 T C 12: 71,998,692 (GRCm39) L549P unknown Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Dis3 G T 14: 99,316,862 (GRCm39) Q825K probably damaging Het
Dnah11 C T 12: 117,982,465 (GRCm39) R2568Q probably damaging Het
Dnah12 A T 14: 26,538,279 (GRCm39) R2312S possibly damaging Het
Dock9 C T 14: 121,783,476 (GRCm39) E2041K probably damaging Het
Eci1 A G 17: 24,658,064 (GRCm39) E282G probably benign Het
Egf T A 3: 129,484,427 (GRCm39) T464S probably benign Het
Eif4g3 C T 4: 137,824,613 (GRCm39) P97S probably damaging Het
Emsy A G 7: 98,242,944 (GRCm39) V1065A possibly damaging Het
Ep400 G T 5: 110,856,032 (GRCm39) probably benign Het
Fam13a A C 6: 58,916,332 (GRCm39) I607S probably damaging Het
Fam241b A G 10: 61,944,728 (GRCm39) S113P probably damaging Het
Fbxl21 A T 13: 56,671,340 (GRCm39) M1L probably benign Het
Fnip2 C A 3: 79,389,072 (GRCm39) C553F probably damaging Het
Frmd3 G T 4: 73,931,995 (GRCm39) probably benign Het
Grm4 G A 17: 27,653,775 (GRCm39) S470L probably benign Het
Gucy2e T A 11: 69,117,070 (GRCm39) I784F probably damaging Het
H1f10 T C 6: 87,958,130 (GRCm39) Y70C probably damaging Het
Hmcn2 A T 2: 31,310,419 (GRCm39) T3338S possibly damaging Het
Idh1 C T 1: 65,207,697 (GRCm39) G161R probably damaging Het
Idi1 T C 13: 8,936,945 (GRCm39) probably benign Het
Idi2l A T 13: 8,990,680 (GRCm39) probably benign Het
Kcnq2 C T 2: 180,776,618 (GRCm39) G90S probably damaging Het
Klhl29 A G 12: 5,134,486 (GRCm39) Y642H probably damaging Het
Lmtk3 T A 7: 45,443,994 (GRCm39) probably benign Het
Macf1 A T 4: 123,334,486 (GRCm39) F4420I probably benign Het
Me1 A G 9: 86,469,096 (GRCm39) S470P probably damaging Het
Mfsd2b A G 12: 4,920,605 (GRCm39) S71P probably damaging Het
Mfsd3 T C 15: 76,586,979 (GRCm39) L273P probably damaging Het
Mical1 A G 10: 41,361,207 (GRCm39) K757R possibly damaging Het
Myh9 A T 15: 77,662,013 (GRCm39) V782D probably damaging Het
Nab2 C G 10: 127,500,916 (GRCm39) E59Q probably damaging Het
Nfyc A T 4: 120,618,921 (GRCm39) N244K probably damaging Het
Nupr2 A G 5: 129,937,672 (GRCm39) I80M probably damaging Het
Or4c15b T C 2: 89,113,401 (GRCm39) I46M probably benign Het
Or51f1d A G 7: 102,700,576 (GRCm39) T24A probably benign Het
Or5a1 A G 19: 12,097,696 (GRCm39) C115R probably damaging Het
Pkn3 A G 2: 29,977,065 (GRCm39) T602A probably benign Het
Prrc2b T A 2: 32,094,301 (GRCm39) V561D probably benign Het
Psd2 T A 18: 36,138,843 (GRCm39) V489E probably benign Het
Rasal2 T C 1: 157,057,629 (GRCm39) T181A probably benign Het
Serpinb13 T C 1: 106,909,886 (GRCm39) M1T probably null Het
Sgsm1 A T 5: 113,411,135 (GRCm39) S864T possibly damaging Het
Slc5a10 C A 11: 61,564,767 (GRCm39) G404V possibly damaging Het
Slc6a1 G T 6: 114,284,731 (GRCm39) G263V probably damaging Het
Son A G 16: 91,456,622 (GRCm39) K1790E probably damaging Het
Spata31e5 T C 1: 28,816,505 (GRCm39) E509G probably damaging Het
Syde2 A G 3: 145,708,176 (GRCm39) probably benign Het
Tmem126a T C 7: 90,102,026 (GRCm39) I58V probably benign Het
Vmn2r8 T C 5: 108,950,040 (GRCm39) Y269C probably damaging Het
Wdr87-ps C T 7: 29,229,004 (GRCm39) noncoding transcript Het
Yeats2 T A 16: 20,008,115 (GRCm39) S416T probably damaging Het
Zfp40 A T 17: 23,394,843 (GRCm39) H513Q 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
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
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'- ACGTGACCTAGATTATTGCTGAGACTCC -3'
(R):5'- GCAGAGCAAATGCCAGTGCC -3'

Sequencing Primer
(F):5'- atcctcctatctccatctccc -3'
(R):5'- AATGCCAGTGCCCTTGGTC -3'
Posted On 2014-04-13