Incidental Mutation 'R0830:1700056E22Rik'
ID 77472
Institutional Source Beutler Lab
Gene Symbol 1700056E22Rik
Ensembl Gene ENSMUSG00000044854
Gene Name RIKEN cDNA 1700056E22 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0830 (G1)
Quality Score 102
Status Not validated
Chromosome 1
Chromosomal Location 183765229-183766195 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 183765624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 145 (R145H)
Ref Sequence ENSEMBL: ENSMUSP00000055787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048655] [ENSMUST00000050306] [ENSMUST00000139839]
AlphaFold F7CNM6
Predicted Effect probably benign
Transcript: ENSMUST00000048655
SMART Domains Protein: ENSMUSP00000045838
Gene: ENSMUSG00000039384

DomainStartEndE-ValueType
low complexity region 33 59 N/A INTRINSIC
low complexity region 92 111 N/A INTRINSIC
low complexity region 124 142 N/A INTRINSIC
RHOD 159 283 1.71e-11 SMART
DSPc 322 462 1.43e-54 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000050306
AA Change: R145H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055787
Gene: ENSMUSG00000044854
AA Change: R145H

DomainStartEndE-ValueType
SCOP:d1howa_ 12 46 7e-3 SMART
low complexity region 81 115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139839
SMART Domains Protein: ENSMUSP00000121433
Gene: ENSMUSG00000039384

DomainStartEndE-ValueType
low complexity region 33 59 N/A INTRINSIC
low complexity region 92 111 N/A INTRINSIC
low complexity region 124 142 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193919
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.0%
  • 20x: 90.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a C T 8: 44,021,439 (GRCm39) V684I probably benign Het
Alk T C 17: 72,910,195 (GRCm39) I170M probably benign Het
Apc2 T C 10: 80,151,239 (GRCm39) Y2069H probably damaging Het
Aspm A G 1: 139,401,992 (GRCm39) T1219A probably damaging Het
Bnip1 T C 17: 27,008,679 (GRCm39) S94P probably benign Het
Cftr A G 6: 18,270,224 (GRCm39) I805V probably benign Het
Col25a1 T A 3: 130,378,375 (GRCm39) D609E probably damaging Het
Cplane1 T A 15: 8,276,669 (GRCm39) V2771E unknown Het
Cyp2g1 A G 7: 26,514,216 (GRCm39) K274R probably benign Het
D5Ertd579e G A 5: 36,771,101 (GRCm39) T1098I probably damaging Het
Ddx39a T A 8: 84,446,452 (GRCm39) C74S possibly damaging Het
E2f3 C T 13: 30,169,543 (GRCm39) A37T probably benign Het
Emilin2 A G 17: 71,580,815 (GRCm39) M637T probably benign Het
Exosc7 T C 9: 122,948,358 (GRCm39) L93P probably benign Het
F2 T C 2: 91,460,545 (GRCm39) E316G probably benign Het
Fat4 A C 3: 39,053,258 (GRCm39) Q4084P probably benign Het
Flywch1 T C 17: 23,981,344 (GRCm39) K160E probably benign Het
Foxi2 A G 7: 135,013,459 (GRCm39) T230A probably benign Het
Fthl17a A G X: 84,313,679 (GRCm39) N154S possibly damaging Het
Hykk G A 9: 54,844,601 (GRCm39) R222Q probably damaging Het
Il18rap T A 1: 40,582,150 (GRCm39) V357E probably damaging Het
Ing4 A G 6: 125,020,923 (GRCm39) E15G probably damaging Het
Irak1 T C X: 73,060,189 (GRCm39) D679G probably damaging Het
Itga1 T C 13: 115,143,568 (GRCm39) E321G probably benign Het
Nudt1 T A 5: 140,321,076 (GRCm39) probably null Het
Nup58 A G 14: 60,480,931 (GRCm39) F138S probably damaging Het
Or10al6 A T 17: 38,082,804 (GRCm39) M87L probably damaging Het
Or2a5 G T 6: 42,873,532 (GRCm39) W49L probably benign Het
Pllp T C 8: 95,406,103 (GRCm39) Y60C probably damaging Het
Pnpla7 T C 2: 24,887,267 (GRCm39) V37A probably damaging Het
Poglut3 T G 9: 53,302,011 (GRCm39) L32R probably damaging Het
Psme4 A G 11: 30,757,797 (GRCm39) H310R possibly damaging Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Sash1 C T 10: 8,605,673 (GRCm39) V906M probably benign Het
Scn1a A T 2: 66,130,128 (GRCm39) I1212K probably damaging Het
Stbd1 A T 5: 92,752,989 (GRCm39) S160C probably benign Het
Tex29 T C 8: 11,904,157 (GRCm39) V99A probably benign Het
Tg A T 15: 66,596,993 (GRCm39) N79I probably damaging Het
Tie1 T C 4: 118,339,860 (GRCm39) D389G probably damaging Het
Vmn1r178 A G 7: 23,593,452 (GRCm39) T167A possibly damaging Het
Xkr4 C T 1: 3,740,968 (GRCm39) G202S possibly damaging Het
Other mutations in 1700056E22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0630:1700056E22Rik UTSW 1 183,766,104 (GRCm39) intron probably benign
R0973:1700056E22Rik UTSW 1 183,765,702 (GRCm39) missense probably benign
R0976:1700056E22Rik UTSW 1 183,765,702 (GRCm39) missense probably benign
R1013:1700056E22Rik UTSW 1 183,765,702 (GRCm39) missense probably benign
R1103:1700056E22Rik UTSW 1 183,765,702 (GRCm39) missense probably benign
R1104:1700056E22Rik UTSW 1 183,765,702 (GRCm39) missense probably benign
R1241:1700056E22Rik UTSW 1 183,765,702 (GRCm39) missense probably benign
R1804:1700056E22Rik UTSW 1 183,765,400 (GRCm39) missense probably benign 0.02
R1920:1700056E22Rik UTSW 1 183,765,828 (GRCm39) missense probably benign 0.19
R4705:1700056E22Rik UTSW 1 183,765,369 (GRCm39) missense possibly damaging 0.90
R5135:1700056E22Rik UTSW 1 183,765,703 (GRCm39) missense probably benign
R8412:1700056E22Rik UTSW 1 183,765,356 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGACATACCCCGACCAGTAGTGAC -3'
(R):5'- GAGTGTCCATCCAACTTTCCCCAG -3'

Sequencing Primer
(F):5'- AGTAGTGACCCCTCTGATGGAC -3'
(R):5'- CAACCTGTTCTCAGGAGCC -3'
Posted On 2013-10-16