Incidental Mutation 'R4833:1810055G02Rik'
ID 373024
Institutional Source Beutler Lab
Gene Symbol 1810055G02Rik
Ensembl Gene ENSMUSG00000035372
Gene Name RIKEN cDNA 1810055G02 gene
Synonyms
MMRRC Submission 042449-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R4833 (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 3766872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 153 (T153K)
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: T153K

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047063
Gene: ENSMUSG00000035372
AA Change: T153K

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 0.2431 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A C 11: 110,170,142 (GRCm39) Y1318D probably benign Het
Adam18 A G 8: 25,164,117 (GRCm39) I22T probably benign Het
Adgrv1 T A 13: 81,708,963 (GRCm39) H1147L possibly damaging Het
Ankrd2 T C 19: 42,032,296 (GRCm39) probably null Het
Bdkrb2 T C 12: 105,557,917 (GRCm39) W53R probably benign Het
Blm T A 7: 80,116,574 (GRCm39) I1111L probably benign Het
Bltp1 A G 3: 37,019,117 (GRCm39) I2007V probably damaging Het
Bmp3 T G 5: 99,003,066 (GRCm39) L32R probably damaging Het
Cdh23 T G 10: 60,220,817 (GRCm39) E1312A probably damaging Het
Ceacam5 C T 7: 17,486,183 (GRCm39) T560M probably benign Het
Cimap1a T C 7: 140,428,191 (GRCm39) M1T probably null Het
Cmtm8 C A 9: 114,625,233 (GRCm39) R66I probably benign Het
Cnbd1 A G 4: 18,862,120 (GRCm39) Y357H probably damaging Het
Col4a4 A T 1: 82,507,323 (GRCm39) V252E unknown Het
Col6a4 A T 9: 105,949,178 (GRCm39) M819K probably benign Het
Cwf19l2 T C 9: 3,430,783 (GRCm39) S372P probably benign Het
Daam2 A T 17: 49,797,173 (GRCm39) I204N possibly damaging Het
Dock6 T C 9: 21,755,576 (GRCm39) D216G probably damaging Het
Epha5 C T 5: 84,253,750 (GRCm39) D548N possibly damaging Het
Erich2 T C 2: 70,364,636 (GRCm39) Y311H possibly damaging Het
Gm3985 A G 8: 33,380,505 (GRCm39) noncoding transcript Het
Gnb1 A G 4: 155,627,524 (GRCm39) T102A possibly damaging Het
Hcfc2 C T 10: 82,544,980 (GRCm39) A204V probably null Het
Hnrnpu T C 1: 178,161,459 (GRCm39) probably benign Het
Htt A G 5: 35,009,569 (GRCm39) T1517A probably damaging Het
Klhl6 T A 16: 19,775,889 (GRCm39) D223V probably damaging Het
Kpna6 A G 4: 129,551,572 (GRCm39) S71P possibly damaging Het
Lama3 A G 18: 12,574,188 (GRCm39) D590G probably benign Het
Lipt1 T G 1: 37,914,610 (GRCm39) L222R probably damaging Het
Lrrc41 A G 4: 115,950,374 (GRCm39) probably benign Het
Lrrc59 T C 11: 94,525,498 (GRCm39) V98A probably benign Het
Mast4 A G 13: 102,910,692 (GRCm39) probably null Het
Mdc1 C T 17: 36,161,286 (GRCm39) S733F probably benign Het
Mknk1 C T 4: 115,735,383 (GRCm39) probably benign Het
Mtmr7 A G 8: 41,043,505 (GRCm39) F141S probably damaging Het
Myo15b A G 11: 115,778,428 (GRCm39) D1G possibly damaging Het
Or7c70 T G 10: 78,683,409 (GRCm39) L113F probably damaging Het
Phkb T A 8: 86,628,540 (GRCm39) V183E probably damaging Het
Pola2 T C 19: 6,003,892 (GRCm39) Y161C probably damaging Het
Psen1 G A 12: 83,778,552 (GRCm39) V412I probably benign Het
Psmc4 C A 7: 27,746,937 (GRCm39) G77V probably damaging Het
Psmd3 A G 11: 98,578,586 (GRCm39) Y207C probably damaging Het
Pxk T A 14: 8,130,653 (GRCm38) M84K probably damaging Het
Rab44 A C 17: 29,355,311 (GRCm39) Q19P probably damaging Het
Rbks A G 5: 31,781,859 (GRCm39) Y314H probably benign Het
Rftn2 T C 1: 55,253,399 (GRCm39) D68G possibly damaging Het
Rims2 T A 15: 39,399,310 (GRCm39) S838R probably damaging Het
Sdc4 A T 2: 164,273,138 (GRCm39) D57E probably damaging Het
Slfn14 A G 11: 83,169,982 (GRCm39) L554P probably damaging Het
Spink2 G T 5: 77,353,239 (GRCm39) D83E possibly damaging Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Taar8b A T 10: 23,968,030 (GRCm39) S55T possibly damaging Het
Tbca A G 13: 94,968,918 (GRCm39) E35G probably benign Het
Tmc5 C A 7: 118,228,052 (GRCm39) H307Q probably benign Het
Tmem169 A G 1: 72,337,311 (GRCm39) D82G probably benign Het
Tmem72 T C 6: 116,675,319 (GRCm39) T58A probably benign Het
Ttc7 C T 17: 87,641,749 (GRCm39) P449S probably damaging Het
Ttf2 T C 3: 100,868,722 (GRCm39) E449G probably benign Het
Ubr4 C A 4: 139,129,857 (GRCm39) T659K probably damaging Het
Wdr1 A G 5: 38,704,372 (GRCm39) Y98H probably damaging Het
Wfikkn2 A G 11: 94,129,878 (GRCm39) Y88H probably benign Het
Zfp384 A T 6: 125,007,811 (GRCm39) H247L probably damaging Het
Zfp526 C T 7: 24,925,295 (GRCm39) A518V probably damaging Het
Zfp788 T A 7: 41,296,992 (GRCm39) H47Q 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
R5012:1810055G02Rik UTSW 19 3,767,217 (GRCm39) missense possibly damaging 0.92
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'- TCTACCAGAGTGACAGCAGAG -3'
(R):5'- TGCTGATCTACCTGCTGTGC -3'

Sequencing Primer
(F):5'- TGACAGCAGAGGTGACAACAC -3'
(R):5'- GCTATGCACTGGCTGGTC -3'
Posted On 2016-03-01