Incidental Mutation 'R8293:D630023F18Rik'
ID 638773
Institutional Source Beutler Lab
Gene Symbol D630023F18Rik
Ensembl Gene ENSMUSG00000044816
Gene Name RIKEN cDNA D630023F18 gene
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R8293 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 65105285-65123214 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65108780 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 205 (S205T)
Ref Sequence ENSEMBL: ENSMUSP00000056196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050047] [ENSMUST00000144760] [ENSMUST00000148020] [ENSMUST00000153330]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000050047
AA Change: S205T

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000056196
Gene: ENSMUSG00000044816
AA Change: S205T

DomainStartEndE-ValueType
low complexity region 165 179 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144760
SMART Domains Protein: ENSMUSP00000140504
Gene: ENSMUSG00000100846

DomainStartEndE-ValueType
low complexity region 97 111 N/A INTRINSIC
low complexity region 124 150 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148020
SMART Domains Protein: ENSMUSP00000120090
Gene: ENSMUSG00000044816

DomainStartEndE-ValueType
low complexity region 159 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153330
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,226,002 S105P possibly damaging Het
4930539E08Rik T C 17: 28,902,890 K468E probably benign Het
A430105I19Rik T A 2: 118,761,315 T115S probably damaging Het
Acsm1 T G 7: 119,638,096 S211A possibly damaging Het
Adam4 T A 12: 81,420,411 R479* probably null Het
Agap3 A C 5: 24,487,885 S439R probably damaging Het
Arap1 A T 7: 101,400,934 H1075L probably benign Het
Arhgef28 T C 13: 97,942,521 E1299G probably benign Het
Cc2d2a A T 5: 43,688,228 I329F probably damaging Het
Cd200r1 A G 16: 44,789,721 N101S probably benign Het
Ces2b A C 8: 104,832,626 T40P unknown Het
Cfap221 A G 1: 119,981,774 V156A possibly damaging Het
Chrm4 C T 2: 91,928,218 P324S probably benign Het
Chrna1 T A 2: 73,570,506 M227L probably benign Het
Cntln A G 4: 85,033,838 D639G probably damaging Het
Cts8 A G 13: 61,254,068 V5A probably benign Het
Cxcl2 A T 5: 90,904,229 T65S probably damaging Het
Cyp2c39 G T 19: 39,563,967 R368L probably benign Het
Dagla A T 19: 10,252,037 probably null Het
Dtnbp1 G A 13: 44,931,139 T175I probably benign Het
Dtx3 A G 10: 127,191,013 L332P probably damaging Het
E2f4 A G 8: 105,297,819 T27A probably damaging Het
Ep400 A G 5: 110,708,892 F1163L unknown Het
Fam83h ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT 15: 76,002,775 probably benign Het
Fbxo40 T C 16: 36,970,025 D241G probably benign Het
Fus T C 7: 127,972,577 S184P unknown Het
Gabarap C A 11: 69,992,672 T87N possibly damaging Het
Gbp10 A C 5: 105,224,369 V175G probably damaging Het
Gcm2 A G 13: 41,103,170 Y368H probably damaging Het
Heca A G 10: 17,902,263 Y529H probably damaging Het
Incenp G A 19: 9,875,133 R714* probably null Het
Lvrn C A 18: 46,850,565 T125K possibly damaging Het
Ms4a6c T A 19: 11,478,296 S156R probably benign Het
Nab2 C A 10: 127,666,397 R21L possibly damaging Het
Neb A T 2: 52,246,815 M3218K probably benign Het
Nwd2 A G 5: 63,805,320 D749G probably benign Het
Nxpe5 A T 5: 138,230,542 Q7L probably benign Het
Olfr1318 A T 2: 112,156,253 M101L probably benign Het
Olfr1335 T A 4: 118,809,742 T41S probably benign Het
Olfr481 A T 7: 108,081,062 E89D probably benign Het
Olfr943 A G 9: 39,184,393 I72V possibly damaging Het
Pla2g5 A G 4: 138,804,606 I29T probably damaging Het
Prpf31 C T 7: 3,640,918 T499I probably damaging Het
Rnf130 T A 11: 50,095,796 D322E probably benign Het
Ros1 T C 10: 52,087,918 N1770D probably damaging Het
Sacs T A 14: 61,191,099 D202E probably damaging Het
Simc1 A G 13: 54,526,546 I902M probably damaging Het
Slc12a8 A T 16: 33,540,978 M77L probably benign Het
Slc35f2 G A 9: 53,816,940 G366D probably benign Het
Slc44a2 A G 9: 21,353,688 D674G probably damaging Het
Smok2a A C 17: 13,226,904 E456A probably benign Het
Stip1 T C 19: 7,034,250 N139S probably benign Het
Taar8c C T 10: 24,101,117 V266M probably benign Het
Tank T A 2: 61,644,414 I204N possibly damaging Het
Tcerg1 A G 18: 42,560,955 T714A probably benign Het
Tenm3 A T 8: 48,367,422 F334I possibly damaging Het
Ubr1 T C 2: 120,862,721 I1735V probably benign Het
Vps13a A T 19: 16,668,605 S2023T possibly damaging Het
Wdfy4 T C 14: 32,974,261 H2741R Het
Wnt10a G T 1: 74,803,217 R284L probably damaging Het
Other mutations in D630023F18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0167:D630023F18Rik UTSW 1 65117181 missense possibly damaging 0.94
R6805:D630023F18Rik UTSW 1 65117206 missense probably benign 0.01
R7814:D630023F18Rik UTSW 1 65116691 missense possibly damaging 0.54
R8948:D630023F18Rik UTSW 1 65108740 missense probably damaging 0.99
R9145:D630023F18Rik UTSW 1 65121212 intron probably benign
Predicted Primers PCR Primer
(F):5'- CACATCTCAAGCAGTGTATAGTTC -3'
(R):5'- CGACATGGTGAAGCCCAAGTAG -3'

Sequencing Primer
(F):5'- TTCCGTTAATTTAAAGATGCACATTG -3'
(R):5'- CCGTGATGAGCTTTGAACAC -3'
Posted On 2020-07-28