Incidental Mutation 'R5557:1810055G02Rik'
ID 435483
Institutional Source Beutler Lab
Gene Symbol 1810055G02Rik
Ensembl Gene ENSMUSG00000035372
Gene Name RIKEN cDNA 1810055G02 gene
Synonyms
MMRRC Submission 043114-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R5557 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 3758343-3767882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3767501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 363 (F363I)
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: F363I

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000047063
Gene: ENSMUSG00000035372
AA Change: F363I

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 0.1132 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (72/72)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,764,949 (GRCm39) N646K probably benign Het
Abi2 C A 1: 60,478,071 (GRCm39) probably benign Het
Adamts13 T C 2: 26,863,651 (GRCm39) S35P probably benign Het
B4galt3 A G 1: 171,100,089 (GRCm39) probably null Het
Bag5 T C 12: 111,676,524 (GRCm39) N433S probably benign Het
Birc7 T A 2: 180,574,772 (GRCm39) V218D probably benign Het
Catsperg1 T G 7: 28,895,296 (GRCm39) N332T possibly damaging Het
Ccdc191 A C 16: 43,728,976 (GRCm39) T179P probably damaging Het
Col4a3 C T 1: 82,692,968 (GRCm39) probably benign Het
Crlf1 A G 8: 70,951,317 (GRCm39) I65M probably benign Het
Dennd4a T G 9: 64,811,509 (GRCm39) D1376E probably benign Het
Dennd4b G A 3: 90,175,675 (GRCm39) R148Q probably damaging Het
Dlg4 C T 11: 69,933,106 (GRCm39) P504L probably damaging Het
Dop1b A G 16: 93,560,819 (GRCm39) T886A probably damaging Het
Dst T A 1: 34,321,667 (GRCm39) V4394E probably damaging Het
Endov T C 11: 119,393,186 (GRCm39) M112T possibly damaging Het
Eps8 T C 6: 137,456,094 (GRCm39) M796V possibly damaging Het
Fam107b T A 2: 3,771,791 (GRCm39) Y7* probably null Het
Farsb C T 1: 78,445,888 (GRCm39) probably null Het
Fasn A G 11: 120,703,252 (GRCm39) M1591T probably benign Het
Fbn2 C T 18: 58,248,731 (GRCm39) A384T probably benign Het
Fnta T C 8: 26,489,564 (GRCm39) D349G probably damaging Het
Glis3 G T 19: 28,241,409 (GRCm39) H842N probably benign Het
Gm17067 G A 7: 42,357,945 (GRCm39) P186S probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hk3 A T 13: 55,159,888 (GRCm39) L362* probably null Het
Ing3 A G 6: 21,968,908 (GRCm39) H130R possibly damaging Het
Inpp4b A T 8: 82,678,888 (GRCm39) Q306L probably damaging Het
Kcnq2 T C 2: 180,776,690 (GRCm39) K66E probably benign Het
Kif21b C A 1: 136,097,797 (GRCm39) N1352K probably damaging Het
Lrig3 A T 10: 125,808,003 (GRCm39) N84Y probably damaging Het
Mill2 T A 7: 18,589,884 (GRCm39) Y55* probably null Het
Mmachc T C 4: 116,563,097 (GRCm39) H86R probably damaging Het
Ncbp1 T C 4: 46,165,259 (GRCm39) V524A probably benign Het
Or10ag54 A T 2: 87,099,736 (GRCm39) T204S possibly damaging Het
Or1q1 T A 2: 36,887,358 (GRCm39) C179S probably damaging Het
Or4c102 G A 2: 88,422,897 (GRCm39) V250M probably damaging Het
Or5af1 G A 11: 58,722,813 (GRCm39) V278I probably benign Het
Or5b101 C A 19: 13,005,004 (GRCm39) A230S probably benign Het
Or7g19 T C 9: 18,856,466 (GRCm39) I174T possibly damaging Het
Pigu G T 2: 155,120,549 (GRCm39) Y404* probably null Het
Plaa A T 4: 94,472,244 (GRCm39) probably null Het
Plcg2 A T 8: 118,313,296 (GRCm39) I487F probably damaging Het
Plekhh2 T C 17: 84,867,580 (GRCm39) I162T probably benign Het
Ptprz1 T A 6: 23,001,000 (GRCm39) V1030D probably benign Het
Raver2 C A 4: 100,993,336 (GRCm39) S505R probably benign Het
Samd7 A T 3: 30,810,769 (GRCm39) Q262L probably benign Het
Scn9a T A 2: 66,377,447 (GRCm39) N412Y probably damaging Het
Sytl1 C A 4: 132,986,667 (GRCm39) R91M probably damaging Het
Tead3 A T 17: 28,555,244 (GRCm39) probably benign Het
Tgm1 A G 14: 55,943,100 (GRCm39) M580T probably benign Het
Themis A T 10: 28,657,882 (GRCm39) Q150L possibly damaging Het
Tmem213 T C 6: 38,086,466 (GRCm39) S41P possibly damaging Het
Tnks1bp1 T C 2: 84,894,144 (GRCm39) V695A probably damaging Het
Trim23 A T 13: 104,324,017 (GRCm39) T159S probably damaging Het
Trim66 T C 7: 109,082,944 (GRCm39) Y166C probably benign Het
Troap A T 15: 98,973,675 (GRCm39) T111S possibly damaging Het
Ttn T C 2: 76,720,734 (GRCm39) probably null Het
Tub T G 7: 108,624,925 (GRCm39) S180A probably damaging Het
Vcan A G 13: 89,851,231 (GRCm39) V1243A possibly damaging Het
Zfp608 T C 18: 55,120,942 (GRCm39) D215G possibly damaging Het
Zfp638 T A 6: 83,944,345 (GRCm39) V1021E probably damaging Het
Zim1 T A 7: 6,680,710 (GRCm39) I318F probably damaging 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
R5012:1810055G02Rik UTSW 19 3,767,217 (GRCm39) missense possibly damaging 0.92
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'- ACATCTGGTACTGCCTCTGC -3'
(R):5'- CTATTAAATGTGTCTAGCATCTGGC -3'

Sequencing Primer
(F):5'- TCTGCTGGGCCAACATCC -3'
(R):5'- TGGCACAGCTCTGAAATTGC -3'
Posted On 2016-10-24