Incidental Mutation 'IGL02532:1700123L14Rik'
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ID297347
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700123L14Rik
Ensembl Gene ENSMUSG00000072878
Gene NameRIKEN cDNA 1700123L14 gene
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.348) question?
Stock #IGL02532
Quality Score
Status
Chromosome6
Chromosomal Location96164497-96166243 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 96164790 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 424 (S424R)
Ref Sequence ENSEMBL: ENSMUSP00000087515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075080] [ENSMUST00000090061] [ENSMUST00000122120]
Predicted Effect probably benign
Transcript: ENSMUST00000075080
SMART Domains Protein: ENSMUSP00000074589
Gene: ENSMUSG00000059187

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:TAFA 40 129 3.9e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000090061
AA Change: S424R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087515
Gene: ENSMUSG00000072878
AA Change: S424R

DomainStartEndE-ValueType
Pfam:NUP50 2 73 1.8e-15 PFAM
low complexity region 84 94 N/A INTRINSIC
RanBD 315 438 2.69e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122120
SMART Domains Protein: ENSMUSP00000113152
Gene: ENSMUSG00000059187

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:TAFA 41 129 4e-50 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik T C 7: 29,248,220 K15E possibly damaging Het
Abca2 A G 2: 25,435,136 T381A probably benign Het
Adcy1 T A 11: 7,144,737 N554K probably benign Het
Adcy5 A G 16: 35,272,083 I605V possibly damaging Het
Arhgap11a G T 2: 113,833,676 S754* probably null Het
Arhgef28 T A 13: 98,029,883 D319V probably damaging Het
Brca2 A G 5: 150,550,862 D2410G probably damaging Het
Carmil2 T A 8: 105,692,431 probably null Het
Catip A G 1: 74,364,616 N189S probably damaging Het
Cd177 T C 7: 24,745,249 K636E probably benign Het
Cep290 A G 10: 100,545,065 T145A probably benign Het
Cthrc1 T C 15: 39,077,165 Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fas C A 19: 34,316,599 T118N probably damaging Het
Fgd3 G A 13: 49,285,761 A253V probably damaging Het
Fig4 A G 10: 41,285,281 probably benign Het
Fubp3 T C 2: 31,600,559 probably benign Het
Gria2 T A 3: 80,706,999 E578V probably damaging Het
Gtpbp1 T A 15: 79,720,077 V662E probably benign Het
Hbb-bt T C 7: 103,813,874 probably benign Het
Ighv6-5 T A 12: 114,416,804 D50V probably benign Het
Inpp5k T C 11: 75,633,184 probably benign Het
Kalrn T C 16: 34,360,846 N141D probably damaging Het
Kbtbd8 A G 6: 95,126,536 T389A probably benign Het
Klhl6 C A 16: 19,957,082 R242L possibly damaging Het
Kmt2b T C 7: 30,586,889 probably benign Het
Krt13 A T 11: 100,119,369 L262Q probably damaging Het
Lingo2 T C 4: 35,709,171 K270E possibly damaging Het
Mroh7 A G 4: 106,720,591 S297P probably benign Het
Ndufs1 G A 1: 63,170,139 R22C probably damaging Het
Nlrp5 T A 7: 23,409,973 S115T possibly damaging Het
Pfpl A T 19: 12,428,845 R153S probably damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Psme1 T A 14: 55,581,138 Y223* probably null Het
R3hdm1 T C 1: 128,197,099 probably null Het
Rnf103 A G 6: 71,509,825 D480G probably benign Het
Rnf103 T G 6: 71,509,652 S422R probably damaging Het
Rps6ka2 T C 17: 7,255,966 V213A probably damaging Het
Sort1 G T 3: 108,325,720 K203N probably benign Het
Sugp1 A T 8: 70,059,819 K239N possibly damaging Het
Sult2a8 C T 7: 14,416,258 R176K probably benign Het
Usp34 T A 11: 23,370,291 N888K probably damaging Het
Vmn1r4 A C 6: 56,957,150 H213P possibly damaging Het
Wdr45b G T 11: 121,328,813 T303K probably benign Het
Other mutations in 1700123L14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:1700123L14Rik APN 6 96165694 missense possibly damaging 0.48
IGL02347:1700123L14Rik APN 6 96165530 missense probably damaging 1.00
R0282:1700123L14Rik UTSW 6 96164816 missense probably benign 0.02
R0946:1700123L14Rik UTSW 6 96165696 missense possibly damaging 0.68
R1275:1700123L14Rik UTSW 6 96165118 missense probably benign 0.03
R1605:1700123L14Rik UTSW 6 96164812 missense probably benign 0.34
R1610:1700123L14Rik UTSW 6 96165289 missense probably damaging 0.98
R1959:1700123L14Rik UTSW 6 96165269 missense possibly damaging 0.73
R1961:1700123L14Rik UTSW 6 96165269 missense possibly damaging 0.73
R2116:1700123L14Rik UTSW 6 96164860 missense probably damaging 0.99
R3708:1700123L14Rik UTSW 6 96165952 missense possibly damaging 0.92
R4157:1700123L14Rik UTSW 6 96165283 missense possibly damaging 0.86
R4285:1700123L14Rik UTSW 6 96165752 missense probably benign 0.07
R4571:1700123L14Rik UTSW 6 96164881 missense probably damaging 1.00
R4884:1700123L14Rik UTSW 6 96164812 missense probably damaging 1.00
R4905:1700123L14Rik UTSW 6 96165930 missense possibly damaging 0.77
R6454:1700123L14Rik UTSW 6 96165628 missense possibly damaging 0.75
R6755:1700123L14Rik UTSW 6 96164972 missense probably benign 0.06
R6790:1700123L14Rik UTSW 6 96165323 missense probably benign
R6792:1700123L14Rik UTSW 6 96165115 missense possibly damaging 0.92
R6931:1700123L14Rik UTSW 6 96165548 missense possibly damaging 0.86
Posted On2015-04-16