Incidental Mutation 'IGL03058:B020011L13Rik'
ID409347
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B020011L13Rik
Ensembl Gene ENSMUSG00000101303
Gene NameRIKEN cDNA B020011L13 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.207) question?
Stock #IGL03058
Quality Score
Status
Chromosome1
Chromosomal Location117781133-117803359 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 117782969 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 35 (D35G)
Ref Sequence ENSEMBL: ENSMUSP00000140211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000188801]
Predicted Effect possibly damaging
Transcript: ENSMUST00000188801
AA Change: D35G

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140211
Gene: ENSMUSG00000101303
AA Change: D35G

DomainStartEndE-ValueType
KRAB 8 66 6.9e-26 SMART
ZnF_C2H2 77 99 8.3e-6 SMART
ZnF_C2H2 105 127 1.8e-5 SMART
ZnF_C2H2 133 155 8.7e-4 SMART
ZnF_C2H2 161 183 2.1e-4 SMART
ZnF_C2H2 189 211 1.1e-7 SMART
ZnF_C2H2 217 239 4e-5 SMART
ZnF_C2H2 245 267 1.6e-7 SMART
ZnF_C2H2 273 295 5.4e-7 SMART
ZnF_C2H2 301 323 5.1e-4 SMART
ZnF_C2H2 329 351 1.1e-1 SMART
ZnF_C2H2 357 379 3.4e-6 SMART
ZnF_C2H2 385 407 3.2e-7 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik T C 11: 29,824,656 D267G probably benign Het
Abcg3 A G 5: 104,961,246 V395A probably benign Het
Adck1 A T 12: 88,459,130 T443S probably benign Het
Axdnd1 G A 1: 156,376,663 A541V probably benign Het
Bmp3 T G 5: 98,872,094 I125M probably damaging Het
Cdc40 T C 10: 40,849,828 E215G probably benign Het
Ces1f A G 8: 93,269,972 probably null Het
Chd8 A C 14: 52,218,273 V986G probably damaging Het
Clca4a A T 3: 144,961,834 probably benign Het
Crhbp T A 13: 95,443,798 E91V probably damaging Het
Dgkh T A 14: 78,627,797 H53L probably benign Het
Dnajc1 T C 2: 18,217,321 D532G possibly damaging Het
Dot1l T C 10: 80,790,997 S230P probably benign Het
Evi5 C T 5: 107,748,151 V809M probably damaging Het
Fbn1 T A 2: 125,403,200 M256L probably benign Het
Fgfr2 C T 7: 130,182,692 D292N probably damaging Het
Fmn1 C T 2: 113,441,814 probably benign Het
Gm12394 G A 4: 42,793,764 L123F probably damaging Het
Htatsf1 T A X: 57,058,921 D203E probably damaging Het
Kcnh1 T A 1: 192,434,891 L51Q probably damaging Het
Lamp5 A T 2: 136,069,127 H260L probably benign Het
Mindy4 T A 6: 55,308,198 V659D probably damaging Het
Mkks C A 2: 136,876,170 L397F probably damaging Het
Ncan G A 8: 70,107,932 S795F possibly damaging Het
Olfr1006 T C 2: 85,674,681 I157V probably benign Het
Olfr159 A C 4: 43,770,255 F252C probably damaging Het
Papolg T C 11: 23,895,029 M4V probably benign Het
Pdk3 A T X: 93,802,286 I143N probably benign Het
Polr2a A T 11: 69,745,047 probably null Het
Prc1 C T 7: 80,301,125 T78I probably benign Het
Ret C A 6: 118,175,067 D569Y probably damaging Het
Samd9l G T 6: 3,374,980 N760K probably damaging Het
Slc5a12 T A 2: 110,640,792 S460T probably benign Het
Slco1c1 A G 6: 141,563,187 I573M probably benign Het
Steap4 A G 5: 7,975,664 D75G probably benign Het
Tcf20 A G 15: 82,852,004 F1749L probably damaging Het
Thbs2 T C 17: 14,689,969 T123A possibly damaging Het
Tmc3 T C 7: 83,615,886 S663P possibly damaging Het
Vmn2r121 G T X: 124,132,921 H180N probably benign Het
Vnn1 T C 10: 23,904,544 F477L probably benign Het
Xpnpep2 A G X: 48,125,425 probably null Het
Zfand4 T C 6: 116,288,077 F168L probably benign Het
Other mutations in B020011L13Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6340:B020011L13Rik UTSW 1 117801884 missense probably benign 0.00
R6785:B020011L13Rik UTSW 1 117801069 missense possibly damaging 0.78
R6857:B020011L13Rik UTSW 1 117801288 missense probably benign 0.00
R7027:B020011L13Rik UTSW 1 117801450 missense probably benign 0.38
R7210:B020011L13Rik UTSW 1 117801511 missense possibly damaging 0.57
R7246:B020011L13Rik UTSW 1 117801239 nonsense probably null
R7513:B020011L13Rik UTSW 1 117801419 missense probably damaging 1.00
Posted On2016-08-02