Incidental Mutation 'R0925:1700021F07Rik'
ID83130
Institutional Source Beutler Lab
Gene Symbol 1700021F07Rik
Ensembl Gene ENSMUSG00000027518
Gene NameRIKEN cDNA 1700021F07 gene
Synonyms
MMRRC Submission 039072-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #R0925 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location173522586-173528501 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 173526074 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 47 (S47T)
Ref Sequence ENSEMBL: ENSMUSP00000029023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029023]
Predicted Effect probably benign
Transcript: ENSMUST00000029023
AA Change: S47T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000029023
Gene: ENSMUSG00000027518
AA Change: S47T

DomainStartEndE-ValueType
Pfam:LLC1 16 134 2.1e-51 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 24,812,425 Q101R probably benign Het
C2cd4c T C 10: 79,612,750 N188D probably benign Het
Cdc27 A G 11: 104,526,049 probably null Het
Cdh11 T A 8: 102,634,724 I661L probably damaging Het
Csmd1 A G 8: 16,710,618 I167T probably benign Het
Dennd3 T G 15: 73,533,435 F346V probably damaging Het
Dis3l A T 9: 64,341,130 M1K probably null Het
Dnajb6 A T 5: 29,752,400 K60I probably damaging Het
Dock10 T A 1: 80,536,940 H1421L probably benign Het
Elmod3 A T 6: 72,568,938 C274S probably damaging Het
Eme1 T C 11: 94,650,732 E88G probably damaging Het
Fam227a A T 15: 79,620,805 M475K probably benign Het
Frem2 T C 3: 53,653,973 I1038V probably benign Het
Gabpb1 T A 2: 126,652,265 N147Y probably damaging Het
Gm5346 T C 8: 43,626,303 I295V probably benign Het
Gmnc A G 16: 26,960,423 L278P probably benign Het
Gpr153 A G 4: 152,281,874 T299A probably benign Het
H2-M11 T C 17: 36,547,461 V49A probably benign Het
Hemgn T A 4: 46,397,049 K62N probably damaging Het
Hormad2 G A 11: 4,427,297 T47M probably damaging Het
Iqcf6 A G 9: 106,627,301 T55A probably benign Het
Itgam T C 7: 128,112,238 F705L probably benign Het
Klk1 T A 7: 44,228,816 probably null Het
Myo1f A T 17: 33,578,133 I123F probably damaging Het
Nupl1 T C 14: 60,220,141 T538A probably damaging Het
Olfr510 C T 7: 108,668,193 T259I probably benign Het
Olfr592 T A 7: 103,186,823 L74* probably null Het
Pdzd2 C T 15: 12,399,270 R790H probably damaging Het
Pigv T C 4: 133,662,649 K74R probably benign Het
Prmt8 T C 6: 127,697,813 K284R probably benign Het
Rsl1d1 A T 16: 11,199,689 Y138N probably damaging Het
Scara5 AC ACC 14: 65,762,718 probably benign Het
Smc4 T A 3: 69,006,215 probably benign Het
Spta1 G A 1: 174,174,426 V41I possibly damaging Het
Tdrd7 C A 4: 46,025,758 N859K probably damaging Het
Vps13d T G 4: 145,156,551 D824A probably damaging Het
Wdfy2 A T 14: 62,930,226 probably null Het
Other mutations in 1700021F07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02375:1700021F07Rik APN 2 173522703 missense probably benign 0.34
R0376:1700021F07Rik UTSW 2 173528327 missense probably benign 0.00
R1102:1700021F07Rik UTSW 2 173522723 missense probably damaging 1.00
R1319:1700021F07Rik UTSW 2 173527923 missense probably damaging 0.98
R3430:1700021F07Rik UTSW 2 173528273 missense possibly damaging 0.60
R4006:1700021F07Rik UTSW 2 173526087 critical splice donor site probably null
R5663:1700021F07Rik UTSW 2 173527897 missense probably damaging 1.00
R6347:1700021F07Rik UTSW 2 173527915 missense possibly damaging 0.77
R6362:1700021F07Rik UTSW 2 173528174 splice site probably null
R6452:1700021F07Rik UTSW 2 173527907 missense probably benign 0.15
R6453:1700021F07Rik UTSW 2 173528259 missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- GGCCAAGTGTCTTTTCAAGCTCCC -3'
(R):5'- ATCAGGTGTCCTGTTGCATGGCTC -3'

Sequencing Primer
(F):5'- GCCAGGGTCTCCTCATAAGTTAAG -3'
(R):5'- gcatggctctcacccac -3'
Posted On2013-11-08