Incidental Mutation 'IGL01089:1700016K19Rik'
ID52263
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? Non essential (E-score: 0.000) question?
Stock #IGL01089
Quality Score
Status
Chromosome11
Chromosomal Location75999912-76003569 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76003337 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 180 (E180G)
Ref Sequence ENSEMBL: ENSMUSP00000063358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066408]
Predicted Effect possibly damaging
Transcript: ENSMUST00000066408
AA Change: E180G

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000063358
Gene: ENSMUSG00000053783
AA Change: E180G

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T C 14: 29,988,335 L353S probably damaging Het
Adgrf2 G A 17: 42,710,158 P592S probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Afap1l2 A C 19: 56,913,411 probably null Het
Asnsd1 G A 1: 53,348,277 P64S probably damaging Het
Bmt2 A G 6: 13,663,271 M76T probably damaging Het
Clca3b A T 3: 144,823,522 V797D probably benign Het
Cog2 T C 8: 124,545,243 S499P probably benign Het
Cyp27a1 A T 1: 74,731,938 Y94F possibly damaging Het
D430042O09Rik A G 7: 125,795,313 E187G probably damaging Het
D630045J12Rik A G 6: 38,136,963 S1765P probably benign Het
Fam149a A G 8: 45,348,527 L519P possibly damaging Het
Fam171a2 G A 11: 102,437,848 A695V possibly damaging Het
Fat1 T A 8: 45,017,857 V1566E probably damaging Het
Flvcr1 T G 1: 191,013,390 N361H probably damaging Het
Gm1110 T C 9: 26,881,860 N540S probably benign Het
Kcns3 T A 12: 11,091,571 T376S possibly damaging Het
Krt32 A G 11: 100,087,779 S150P probably benign Het
Lrtm2 C T 6: 119,320,792 R96Q possibly damaging Het
Mctp1 A G 13: 77,020,798 E838G probably damaging Het
Mios T C 6: 8,234,363 probably null Het
Olfr338 A T 2: 36,377,166 Y130F probably damaging Het
Phldb1 T A 9: 44,707,887 K167* probably null Het
Pkhd1l1 A G 15: 44,483,869 probably benign Het
Plaa A G 4: 94,574,047 V531A probably benign Het
Psmb2 A G 4: 126,684,206 Y59C probably damaging Het
Ptprg A G 14: 12,215,286 H1091R probably damaging Het
Rbm44 T A 1: 91,168,697 V926D possibly damaging Het
Rgma G T 7: 73,409,714 V189L possibly damaging Het
Sbf2 A T 7: 110,348,962 I1227K probably damaging Het
Slc8a1 T C 17: 81,648,281 T443A probably damaging Het
Slc8a1 A G 17: 81,388,881 V896A probably damaging Het
Taf2 T C 15: 55,016,581 M1120V probably benign Het
Ugt2b34 C T 5: 86,906,326 V199I probably benign Het
Unc5c C A 3: 141,818,202 probably benign Het
Usp37 G A 1: 74,493,046 R63* probably null Het
Other mutations in 1700016K19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:1700016K19Rik APN 11 76003366 missense probably benign 0.00
IGL02112:1700016K19Rik APN 11 76003388 missense probably benign 0.00
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
R7381:1700016K19Rik UTSW 11 76003007 missense probably damaging 1.00
Posted On2013-06-21