Incidental Mutation 'R5012:1810055G02Rik'
ID 390598
Institutional Source Beutler Lab
Gene Symbol 1810055G02Rik
Ensembl Gene ENSMUSG00000035372
Gene Name RIKEN cDNA 1810055G02 gene
Synonyms
MMRRC Submission 042603-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R5012 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 3758343-3767882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 3767217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 268 (T268K)
Ref Sequence ENSEMBL: ENSMUSP00000047063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039048]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000039048
AA Change: T268K

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047063
Gene: ENSMUSG00000035372
AA Change: T268K

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 86 97 N/A INTRINSIC
low complexity region 265 288 N/A INTRINSIC
low complexity region 292 310 N/A INTRINSIC
transmembrane domain 343 365 N/A INTRINSIC
Meta Mutation Damage Score 0.0884 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 90.9%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Acsl1 A G 8: 46,974,468 (GRCm39) S314G probably benign Het
Aftph G A 11: 20,648,264 (GRCm39) probably benign Het
Ankrd34c T G 9: 89,611,709 (GRCm39) I211L probably benign Het
Anks1b A G 10: 90,194,999 (GRCm39) T560A probably benign Het
Carmil1 G T 13: 24,208,403 (GRCm39) S1247R possibly damaging Het
Elf1 T A 14: 79,808,174 (GRCm39) Y172N probably damaging Het
Emx1 C T 6: 85,180,955 (GRCm39) P224L probably benign Het
Fastkd2 A T 1: 63,789,055 (GRCm39) probably benign Het
Fbxw27 C A 9: 109,602,271 (GRCm39) C234F probably benign Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
Igkv6-23 C A 6: 70,237,529 (GRCm39) A71S probably damaging Het
Igsf10 A G 3: 59,226,143 (GRCm39) L2510P probably damaging Het
Itgal T C 7: 126,898,802 (GRCm39) probably null Het
Kmt2c C A 5: 25,504,710 (GRCm39) G122* probably null Het
Lamtor2 C T 3: 88,460,163 (GRCm39) R3H possibly damaging Het
Magi2 A T 5: 20,670,618 (GRCm39) T321S probably damaging Het
Mau2 A G 8: 70,484,107 (GRCm39) probably null Het
Mcm7 A T 5: 138,167,609 (GRCm39) probably null Het
Mitd1 A T 1: 37,924,374 (GRCm39) C59S probably benign Het
Muc6 A G 7: 141,216,570 (GRCm39) L2636P possibly damaging Het
Paip1 A G 13: 119,584,338 (GRCm39) M233V probably benign Het
Pcdhb11 C A 18: 37,556,029 (GRCm39) T453N possibly damaging Het
Plcb1 A G 2: 135,175,320 (GRCm39) N545S probably null Het
Prl8a9 A T 13: 27,746,594 (GRCm39) probably null Het
Psmc2 A G 5: 22,007,563 (GRCm39) T308A probably benign Het
Rassf2 C A 2: 131,851,610 (GRCm39) R44L probably damaging Het
Scn11a A T 9: 119,609,944 (GRCm39) M968K probably benign Het
Septin4 T A 11: 87,475,230 (GRCm39) S146T possibly damaging Het
Slc41a2 A G 10: 83,137,127 (GRCm39) I260T probably benign Het
Steap2 G C 5: 5,727,784 (GRCm39) L184V possibly damaging Het
Ttll5 G A 12: 85,973,618 (GRCm39) E776K possibly damaging Het
Vipr1 A T 9: 121,487,111 (GRCm39) probably null Het
Yars2 T C 16: 16,121,448 (GRCm39) S201P probably damaging Het
Zfp386 T A 12: 116,022,864 (GRCm39) I194K probably benign Het
Zfp988 A G 4: 147,416,060 (GRCm39) I165V probably benign Het
Other mutations in 1810055G02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:1810055G02Rik APN 19 3,767,040 (GRCm39) missense probably benign 0.02
IGL02883:1810055G02Rik APN 19 3,766,972 (GRCm39) missense possibly damaging 0.83
R0909:1810055G02Rik UTSW 19 3,765,788 (GRCm39) missense probably benign 0.00
R1482:1810055G02Rik UTSW 19 3,767,192 (GRCm39) missense probably benign 0.01
R2158:1810055G02Rik UTSW 19 3,766,608 (GRCm39) missense possibly damaging 0.46
R4833:1810055G02Rik UTSW 19 3,766,872 (GRCm39) missense possibly damaging 0.87
R5557:1810055G02Rik UTSW 19 3,767,501 (GRCm39) missense possibly damaging 0.66
R7411:1810055G02Rik UTSW 19 3,767,241 (GRCm39) missense possibly damaging 0.92
R7573:1810055G02Rik UTSW 19 3,765,728 (GRCm39) start codon destroyed probably null 0.04
R8164:1810055G02Rik UTSW 19 3,767,454 (GRCm39) missense probably benign
R8265:1810055G02Rik UTSW 19 3,766,568 (GRCm39) missense probably benign 0.00
R8781:1810055G02Rik UTSW 19 3,767,538 (GRCm39) missense possibly damaging 0.90
R8906:1810055G02Rik UTSW 19 3,766,686 (GRCm39) missense possibly damaging 0.82
R9224:1810055G02Rik UTSW 19 3,767,100 (GRCm39) missense possibly damaging 0.66
R9614:1810055G02Rik UTSW 19 3,767,364 (GRCm39) missense possibly damaging 0.92
R9712:1810055G02Rik UTSW 19 3,765,784 (GRCm39) missense probably benign
X0026:1810055G02Rik UTSW 19 3,766,826 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TCAGGTGCCCAAATACAAGG -3'
(R):5'- CAATGGTGACTAGGTACTGGC -3'

Sequencing Primer
(F):5'- AAGGTACCACCGTCCAGCTG -3'
(R):5'- ACTAGGTACTGGCCTTGGG -3'
Posted On 2016-06-06