Incidental Mutation 'R9075:3110009E18Rik'
ID 689712
Institutional Source Beutler Lab
Gene Symbol 3110009E18Rik
Ensembl Gene ENSMUSG00000026388
Gene Name RIKEN cDNA 3110009E18 gene
Synonyms
MMRRC Submission 068896-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R9075 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 120048917-120115919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 120097014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 137 (S137A)
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
SMART Domains Protein: ENSMUSP00000115887
Gene: ENSMUSG00000026388
AA Change: S137A

DomainStartEndE-ValueType
Pfam:DUF2340 1 61 1.6e-14 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a G T 3: 32,769,641 (GRCm39) C152F possibly damaging Het
Adam26b A T 8: 43,973,405 (GRCm39) D532E probably benign Het
Adamts6 A G 13: 104,598,793 (GRCm39) N878S probably benign Het
Ap1b1 T C 11: 4,975,597 (GRCm39) S387P possibly damaging Het
Cdh23 A G 10: 60,153,541 (GRCm39) S2350P probably damaging Het
Cdh4 A G 2: 179,501,940 (GRCm39) D300G probably damaging Het
Cngb1 T C 8: 95,979,993 (GRCm39) Y969C probably damaging Het
Cog8 C T 8: 107,779,208 (GRCm39) M356I probably damaging Het
Fam168a T A 7: 100,484,582 (GRCm39) V224D probably damaging Het
Fam210a C T 18: 68,405,693 (GRCm39) V177M probably damaging Het
Flnc A T 6: 29,447,646 (GRCm39) I1150F probably damaging Het
Frmd4a G T 2: 4,608,765 (GRCm39) G878W probably damaging Het
Gm11555 C T 11: 99,540,694 (GRCm39) C95Y Het
Gns A G 10: 121,226,542 (GRCm39) N397S probably benign Het
Grin2b CA C 6: 135,709,509 (GRCm39) probably null Het
Ifi204 T A 1: 173,589,282 (GRCm39) N50Y possibly damaging Het
Iqub T A 6: 24,446,124 (GRCm39) I767F probably damaging Het
Lama2 A T 10: 26,857,588 (GRCm39) L3087Q probably damaging Het
Mars2 A G 1: 55,278,154 (GRCm39) T586A probably damaging Het
Mrps28 G T 3: 8,867,312 (GRCm39) S185R probably benign Het
Nphp4 T C 4: 152,591,905 (GRCm39) Y363H probably damaging Het
Nploc4 T C 11: 120,304,526 (GRCm39) T232A possibly damaging Het
Pate3 A G 9: 35,557,893 (GRCm39) probably null Het
Pcdh18 G A 3: 49,699,339 (GRCm39) A1041V probably benign Het
Plpp5 T A 8: 26,210,379 (GRCm39) Y50N probably benign Het
Ppp4r4 G T 12: 103,570,290 (GRCm39) G755* probably null Het
Psmd14 T A 2: 61,607,021 (GRCm39) V156D probably damaging Het
Ptch1 G A 13: 63,681,335 (GRCm39) R651C possibly damaging Het
Rai14 T C 15: 10,589,403 (GRCm39) E265G probably damaging Het
Rbmx G A X: 56,432,717 (GRCm39) P301L probably benign Het
Rimbp2 T A 5: 128,851,312 (GRCm39) D878V probably damaging Het
Sarm1 T C 11: 78,374,023 (GRCm39) K668R probably benign Het
Slc10a2 C A 8: 5,155,267 (GRCm39) probably benign Het
Slc15a3 T C 19: 10,826,094 (GRCm39) S262P probably damaging Het
Slf2 T C 19: 44,930,860 (GRCm39) Y646H probably damaging Het
Smpd4 C T 16: 17,457,849 (GRCm39) P406S unknown Het
Sv2b A G 7: 74,789,845 (GRCm39) V396A possibly damaging Het
Swt1 A G 1: 151,246,245 (GRCm39) probably benign Het
Sympk A G 7: 18,776,563 (GRCm39) E485G probably benign Het
Tbc1d9 T C 8: 83,982,501 (GRCm39) V762A probably benign Het
Thbs2 T A 17: 14,900,587 (GRCm39) H540L probably benign Het
Tie1 C A 4: 118,341,356 (GRCm39) G275V possibly damaging Het
Tmprss15 T C 16: 78,754,259 (GRCm39) Y998C probably damaging Het
Trappc10 A T 10: 78,040,130 (GRCm39) V607E possibly damaging Het
Trim69 A T 2: 122,009,264 (GRCm39) R441S probably benign Het
Trio G T 15: 27,774,022 (GRCm39) S1814* probably null Het
Vmn1r192 C T 13: 22,371,333 (GRCm39) V296I probably benign Het
Vmn1r223 A G 13: 23,433,600 (GRCm39) S65G possibly damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r41 A G 7: 8,141,250 (GRCm39) V738A probably benign Het
Zfp408 A G 2: 91,476,065 (GRCm39) V363A possibly damaging Het
Zfp583 A T 7: 6,319,870 (GRCm39) C381S 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
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
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'- TCATTCTGACTCCAAATGGTAGGG -3'
(R):5'- TCACTGCTGCATGTGCCATG -3'

Sequencing Primer
(F):5'- CTGCTGTGAGAGAATGCCTGAC -3'
(R):5'- CCATGGGTGTGGAGATGCTC -3'
Posted On 2021-11-19