Incidental Mutation 'IGL02112:1700016K19Rik'
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ID280200
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700016K19Rik
Ensembl Gene ENSMUSG00000053783
Gene NameRIKEN cDNA 1700016K19 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.047) question?
Stock #IGL02112
Quality Score
Status
Chromosome11
Chromosomal Location75999912-76003569 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 76003388 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 197 (C197F)
Ref Sequence ENSEMBL: ENSMUSP00000063358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066408]
Predicted Effect probably benign
Transcript: ENSMUST00000066408
AA Change: C197F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000063358
Gene: ENSMUSG00000053783
AA Change: C197F

DomainStartEndE-ValueType
low complexity region 2 31 N/A INTRINSIC
low complexity region 49 67 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T A 8: 43,651,138 Y490F possibly damaging Het
Appbp2 A T 11: 85,201,620 H271Q probably benign Het
Arhgap17 A T 7: 123,318,417 D181E possibly damaging Het
Arhgap25 T A 6: 87,467,937 Y286F possibly damaging Het
Atf2 T C 2: 73,819,037 K352R probably damaging Het
Bdp1 G A 13: 100,037,800 T2076I probably benign Het
C1s2 A G 6: 124,625,308 V642A probably benign Het
Cldn18 T A 9: 99,698,075 T170S probably benign Het
Cntnap5c T A 17: 58,313,858 H977Q probably benign Het
Col15a1 T A 4: 47,253,985 probably benign Het
Csmd1 A T 8: 16,081,705 Y1669N probably benign Het
Csmd3 A C 15: 48,313,869 S424R possibly damaging Het
Cyp4a31 A G 4: 115,570,983 D306G probably damaging Het
Dusp27 C A 1: 166,099,671 E791* probably null Het
E2f2 A G 4: 136,192,834 T377A probably benign Het
Edil3 A G 13: 89,180,255 D276G probably damaging Het
Ei24 A T 9: 36,782,342 Y305N probably damaging Het
Erbin T C 13: 103,862,336 N181D probably benign Het
Gli3 A G 13: 15,662,514 Q494R probably damaging Het
Gm16519 T C 17: 70,929,296 I80T probably damaging Het
Haus8 T A 8: 71,255,561 E163V probably damaging Het
Hephl1 G T 9: 15,081,815 probably benign Het
Hnrnph3 A G 10: 63,016,405 probably null Het
Mast2 A T 4: 116,319,764 C437S probably damaging Het
Mef2a A C 7: 67,264,872 S91R probably damaging Het
Mfge8 A T 7: 79,143,340 V126D probably benign Het
Nrd1 A G 4: 109,027,432 probably benign Het
Olfr77 T A 9: 19,920,525 N105K possibly damaging Het
Panx2 A G 15: 89,069,569 T576A probably benign Het
Per3 T C 4: 151,029,183 Y306C probably benign Het
Ppm1h G A 10: 122,802,400 G192R possibly damaging Het
Prss22 T C 17: 23,993,971 E264G probably damaging Het
Rasa3 A G 8: 13,585,042 probably benign Het
Rpl7a-ps8 C A 7: 19,954,060 probably benign Het
Rundc1 A G 11: 101,433,599 D377G probably benign Het
Sh3bp1 T C 15: 78,905,884 probably null Het
Sobp A G 10: 43,021,877 S571P probably benign Het
Syce1 C A 7: 140,779,632 M114I probably benign Het
Tdrd6 G A 17: 43,629,351 R269W probably damaging Het
Tmprss13 T C 9: 45,339,404 S408P probably damaging Het
Tonsl T C 15: 76,633,402 T706A probably benign Het
Tpcn2 A G 7: 145,256,792 S603P probably benign Het
Trmt12 A T 15: 58,872,816 Q21L probably damaging Het
Vmn1r68 C T 7: 10,527,860 G104S probably damaging Het
Vmn2r82 T C 10: 79,395,999 W611R probably benign Het
Vmn2r90 C A 17: 17,712,203 T124K probably damaging Het
Vmn2r99 A G 17: 19,380,232 E506G probably null Het
Other mutations in 1700016K19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:1700016K19Rik APN 11 76003366 missense probably benign 0.00
IGL01089:1700016K19Rik APN 11 76003337 missense possibly damaging 0.82
IGL02152:1700016K19Rik APN 11 76003225 missense probably benign 0.27
IGL02189:1700016K19Rik APN 11 76000230 missense probably damaging 1.00
R0025:1700016K19Rik UTSW 11 76000115 small deletion probably benign
R1562:1700016K19Rik UTSW 11 76003198 missense probably damaging 0.99
R2068:1700016K19Rik UTSW 11 76000251 missense possibly damaging 0.48
R5027:1700016K19Rik UTSW 11 76000221 missense probably damaging 1.00
R5663:1700016K19Rik UTSW 11 76000221 missense probably damaging 1.00
R6242:1700016K19Rik UTSW 11 76000155 missense probably damaging 0.99
Posted On2015-04-16