Incidental Mutation 'R7546:1700122O11Rik'
ID584235
Institutional Source Beutler Lab
Gene Symbol 1700122O11Rik
Ensembl Gene ENSMUSG00000094928
Gene NameRIKEN cDNA 1700122O11 gene
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #R7546 (G1)
Quality Score225.009
Status Validated
Chromosome17
Chromosomal Location48036745-48038293 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 48037521 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 36 (S36P)
Ref Sequence ENSEMBL: ENSMUSP00000137519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178823]
Predicted Effect probably benign
Transcript: ENSMUST00000178823
AA Change: S36P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137519
Gene: ENSMUSG00000094928
AA Change: S36P

DomainStartEndE-ValueType
coiled coil region 42 73 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik G T 13: 31,558,995 R92S unknown Het
Ampd1 A G 3: 103,095,712 T582A probably benign Het
Ank1 A C 8: 23,064,995 N57T probably damaging Het
Atxn3 A G 12: 101,948,002 probably null Het
Bace2 G A 16: 97,399,682 A117T probably benign Het
Bcl2l15 A G 3: 103,832,887 N19S probably benign Het
Bid C A 6: 120,900,151 probably null Het
Cadps2 A T 6: 23,626,608 M227K probably benign Het
Clip4 G A 17: 71,828,702 C483Y possibly damaging Het
D5Ertd577e C T 5: 95,482,680 R139C probably benign Het
Dennd4a A G 9: 64,873,044 T621A probably damaging Het
E2f3 G A 13: 29,910,129 S383L probably damaging Het
F2r C T 13: 95,618,350 V9I probably benign Het
Gm10424 T A 5: 95,270,312 H275L possibly damaging Het
Gm14226 T C 2: 155,025,211 S363P probably damaging Het
Gm156 T C 6: 129,772,380 H84R probably benign Het
Gstm5 T C 3: 107,897,294 Y65H probably damaging Het
H60c A G 10: 3,259,907 W127R probably damaging Het
Hist1h2bl A G 13: 21,715,870 S92P probably benign Het
Itgav G T 2: 83,776,550 G448* probably null Het
Lhx6 C T 2: 36,103,345 probably null Het
Manba T A 3: 135,570,246 V816D probably benign Het
March10 G A 11: 105,390,080 P460S not run Het
Mmp17 T A 5: 129,596,589 V244E probably damaging Het
Mtrr C T 13: 68,582,149 probably benign Het
Nup160 T C 2: 90,685,058 I170T probably damaging Het
Olfr1255 A G 2: 89,817,019 N225S probably benign Het
Olfr1255 A T 2: 89,817,194 L283F probably damaging Het
Olfr558 T C 7: 102,709,789 S177P probably damaging Het
Pappa G A 4: 65,156,115 S302N possibly damaging Het
Plekhj1 G A 10: 80,797,914 A53V possibly damaging Het
Prpf8 T C 11: 75,508,374 V2157A probably damaging Het
Rps8 G A 4: 117,153,907 R200W probably damaging Het
Sesn2 A G 4: 132,499,843 F93L probably damaging Het
Slf1 A G 13: 77,049,192 S768P probably benign Het
Stat4 A G 1: 52,098,463 N471S probably damaging Het
Trcg1 T C 9: 57,248,338 L758P probably benign Het
Trim35 A G 14: 66,303,247 T183A probably benign Het
Ttc37 C A 13: 76,134,835 L759M probably damaging Het
Ttr C A 18: 20,670,045 Y89* probably null Het
Zfp90 C A 8: 106,424,691 H345Q probably benign Het
Zmym4 A G 4: 126,864,168 V1531A probably damaging Het
Other mutations in 1700122O11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02830:1700122O11Rik APN 17 48037426 missense possibly damaging 0.46
IGL02927:1700122O11Rik APN 17 48036920 nonsense probably null
R2013:1700122O11Rik UTSW 17 48036914 missense possibly damaging 0.53
R2014:1700122O11Rik UTSW 17 48036914 missense possibly damaging 0.53
R4698:1700122O11Rik UTSW 17 48038240 missense possibly damaging 0.46
R5194:1700122O11Rik UTSW 17 48037250 missense probably benign
R6352:1700122O11Rik UTSW 17 48037136 missense probably benign 0.08
R6512:1700122O11Rik UTSW 17 48036863 missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- GGCCTTGATCCTGAGCAAAAG -3'
(R):5'- AGGCCTAAATCTGGGGTGAG -3'

Sequencing Primer
(F):5'- CCGATATGGTCATAGAGTGAGGCTC -3'
(R):5'- CCTAAATCTGGGGTGAGAGTGTGAG -3'
Posted On2019-10-17