Incidental Mutation 'R1013:1700056E22Rik'
ID 95823
Institutional Source Beutler Lab
Gene Symbol 1700056E22Rik
Ensembl Gene ENSMUSG00000044854
Gene Name RIKEN cDNA 1700056E22 gene
Synonyms
MMRRC Submission 039117-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R1013 (G1)
Quality Score 142
Status Not validated
Chromosome 1
Chromosomal Location 183765229-183766195 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 183765702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 119 (S119N)
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 benign
Transcript: ENSMUST00000050306
AA Change: S119N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055787
Gene: ENSMUSG00000044854
AA Change: S119N

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.4%
Validation Efficiency 98% (39/40)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930527J03Rik ACCC ACC 1: 178,276,503 (GRCm38) noncoding transcript Het
Bclaf1 T A 10: 20,207,822 (GRCm39) probably benign Het
Bicdl2 A G 17: 23,884,377 (GRCm39) probably benign Het
C8a T C 4: 104,685,236 (GRCm39) I336V probably benign Het
Calcr A T 6: 3,692,621 (GRCm39) V374D probably damaging Het
Col28a1 A G 6: 7,999,452 (GRCm39) probably benign Het
Cuedc1 C T 11: 88,078,853 (GRCm39) A327V possibly damaging Het
Cul2 C A 18: 3,425,535 (GRCm39) Y378* probably null Het
Dnaaf10 A G 11: 17,178,183 (GRCm39) K226E probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Gm8369 TG TGNG 19: 11,489,147 (GRCm39) probably null Het
Hivep1 A G 13: 42,310,438 (GRCm39) R893G probably damaging Het
Il10rb A G 16: 91,211,581 (GRCm39) N140D probably benign Het
Itga4 A G 2: 79,150,847 (GRCm39) M818V probably benign Het
Kyat3 T C 3: 142,432,007 (GRCm39) I245T probably damaging Het
Lck C T 4: 129,451,920 (GRCm39) C20Y probably damaging Het
Mcm6 T G 1: 128,276,778 (GRCm39) S271R probably benign Het
Megf10 A G 18: 57,394,291 (GRCm39) I472V probably benign Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mrpl11 T C 19: 5,013,651 (GRCm39) I144T possibly damaging Het
Or2t26 G A 11: 49,039,977 (GRCm39) V298M probably damaging Het
Or8k25 G A 2: 86,244,319 (GRCm39) P26S possibly damaging Het
Pcdhb17 A G 18: 37,619,020 (GRCm39) D270G probably damaging Het
Plg G A 17: 12,597,608 (GRCm39) probably benign Het
Ppp3cb T A 14: 20,574,072 (GRCm39) E255D probably benign Het
Psenen A G 7: 30,261,802 (GRCm39) F38S possibly damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Sorl1 T C 9: 41,913,855 (GRCm39) N1358S probably benign Het
Trim3 G A 7: 105,267,102 (GRCm39) P426S probably benign Het
Ttc28 T C 5: 111,424,831 (GRCm39) M1552T probably benign Het
Unc13c T C 9: 73,840,614 (GRCm39) D79G probably benign Het
Zcchc14 A G 8: 122,333,664 (GRCm39) probably benign Het
Zfp354a T C 11: 50,951,677 (GRCm39) probably benign Het
Zfp729a T C 13: 67,767,626 (GRCm39) I868V probably benign Het
Other mutations in 1700056E22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0630:1700056E22Rik UTSW 1 183,766,104 (GRCm39) intron probably benign
R0830:1700056E22Rik UTSW 1 183,765,624 (GRCm39) missense probably damaging 0.99
R0973:1700056E22Rik UTSW 1 183,765,702 (GRCm39) missense probably benign
R0976:1700056E22Rik 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'- AGTGTCCATCCAACTTTCCCCAGG -3'

Sequencing Primer
(F):5'- AGTAGTGACCCCTCTGATGGAC -3'
(R):5'- CAACCTGTTCTCAGGAGCC -3'
Posted On 2014-01-05