Incidental Mutation 'R8340:3110040N11Rik'
ID 644838
Institutional Source Beutler Lab
Gene Symbol 3110040N11Rik
Ensembl Gene ENSMUSG00000025102
Gene Name RIKEN cDNA 3110040N11 gene
Synonyms
MMRRC Submission 067864-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R8340 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 81431930-81439226 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81435839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 91 (V91M)
Ref Sequence ENSEMBL: ENSMUSP00000026092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026092] [ENSMUST00000152620]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026092
AA Change: V91M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026092
Gene: ENSMUSG00000025102
AA Change: V91M

DomainStartEndE-ValueType
DUF167 32 108 3.17e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152620
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr2 A G 11: 20,044,435 (GRCm39) V57A possibly damaging Het
Aoah A G 13: 21,184,112 (GRCm39) Y392C probably damaging Het
Armc6 T G 8: 70,673,502 (GRCm39) N407T probably damaging Het
BC024139 A G 15: 76,005,670 (GRCm39) V484A probably benign Het
Bdp1 A G 13: 100,202,476 (GRCm39) V716A possibly damaging Het
C2cd2 T C 16: 97,670,013 (GRCm39) E550G probably benign Het
Cbl A G 9: 44,070,297 (GRCm39) S512P possibly damaging Het
Chac2 C G 11: 30,927,511 (GRCm39) G136A probably damaging Het
Crhr2 C T 6: 55,079,831 (GRCm39) V170M probably damaging Het
Cyp2c54 T A 19: 40,060,831 (GRCm39) D104V possibly damaging Het
Dhtkd1 T A 2: 5,924,408 (GRCm39) S402C probably damaging Het
Efcab3 A G 11: 104,876,856 (GRCm39) I4099V unknown Het
Etv3 A G 3: 87,443,856 (GRCm39) D480G possibly damaging Het
Fam186b A T 15: 99,177,595 (GRCm39) I577K probably benign Het
Foxe1 T C 4: 46,344,437 (GRCm39) Y82H possibly damaging Het
Gsdma T A 11: 98,557,421 (GRCm39) V120E probably benign Het
Insig2 A T 1: 121,234,946 (GRCm39) S153R probably damaging Het
Isx T A 8: 75,616,688 (GRCm39) I105N probably damaging Het
Klra4 T A 6: 130,042,257 (GRCm39) E3D probably benign Het
Mkln1 G T 6: 31,409,878 (GRCm39) R172L possibly damaging Het
Myrf A T 19: 10,192,705 (GRCm39) S605T probably benign Het
Nell1 T A 7: 49,870,021 (GRCm39) D232E probably damaging Het
Nemf T G 12: 69,400,659 (GRCm39) T139P possibly damaging Het
Nrdc A C 4: 108,858,351 (GRCm39) K108Q probably damaging Het
Or10c1 G T 17: 37,522,075 (GRCm39) T223N possibly damaging Het
Or14j3 T C 17: 37,901,034 (GRCm39) D70G probably damaging Het
Or3a10 G T 11: 73,935,851 (GRCm39) P83Q probably damaging Het
Pcnx4 T C 12: 72,613,851 (GRCm39) S599P probably damaging Het
Plscr2 A G 9: 92,173,130 (GRCm39) N224S probably benign Het
Poln A G 5: 34,307,118 (GRCm39) S28P probably damaging Het
Prr36 A G 8: 4,264,224 (GRCm39) S481P unknown Het
Scrn1 G A 6: 54,511,518 (GRCm39) A74V possibly damaging Het
Slc22a22 T A 15: 57,127,086 (GRCm39) probably null Het
Srpra A G 9: 35,127,102 (GRCm39) D592G probably damaging Het
Tnc T C 4: 63,926,036 (GRCm39) N915D probably damaging Het
Trpm2 T A 10: 77,759,458 (GRCm39) K1109* probably null Het
Tsks C T 7: 44,602,144 (GRCm39) R287W probably damaging Het
Ush1c T G 7: 45,860,630 (GRCm39) M456L probably benign Het
Usp38 A G 8: 81,712,031 (GRCm39) V668A probably benign Het
Vmn2r117 T A 17: 23,679,511 (GRCm39) Q571L probably benign Het
Vmn2r13 A T 5: 109,322,006 (GRCm39) D230E probably benign Het
Vmn2r25 C T 6: 123,829,972 (GRCm39) G60S probably benign Het
Vmn2r82 A G 10: 79,217,036 (GRCm39) D456G probably benign Het
Zfp738 A C 13: 67,819,231 (GRCm39) H253Q probably damaging Het
Other mutations in 3110040N11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0035:3110040N11Rik UTSW 7 81,438,297 (GRCm39) missense probably benign
R0035:3110040N11Rik UTSW 7 81,438,297 (GRCm39) missense probably benign
R0352:3110040N11Rik UTSW 7 81,438,208 (GRCm39) missense probably benign 0.36
Predicted Primers PCR Primer
(F):5'- TGGGCAGTCTCTAAATGGACAG -3'
(R):5'- ACACTGCTAGATGGTTCTTTGC -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CTTCGTGAGGGAAGGAAGCCC -3'
Posted On 2020-09-02