Incidental Mutation 'IGL02218:Bricd5'
ID 284971
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bricd5
Ensembl Gene ENSMUSG00000045744
Gene Name BRICHOS domain containing 5
Synonyms 9930021D14Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02218
Quality Score
Status
Chromosome 17
Chromosomal Location 24692858-24694443 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 24694296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 171 (Y171*)
Ref Sequence ENSEMBL: ENSMUSP00000130417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053024] [ENSMUST00000054946] [ENSMUST00000070888] [ENSMUST00000164508] [ENSMUST00000179163]
AlphaFold A0A5F8MPL8
Predicted Effect probably benign
Transcript: ENSMUST00000053024
SMART Domains Protein: ENSMUSP00000052866
Gene: ENSMUSG00000043445

DomainStartEndE-ValueType
Pfam:Hydrolase 28 270 9.3e-14 PFAM
Pfam:Hydrolase_6 31 139 7.2e-30 PFAM
Pfam:Hydrolase_like 232 315 3.1e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000054946
AA Change: Y171*
SMART Domains Protein: ENSMUSP00000059792
Gene: ENSMUSG00000045744
AA Change: Y171*

DomainStartEndE-ValueType
BRICHOS 44 139 1.15e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000070888
SMART Domains Protein: ENSMUSP00000065004
Gene: ENSMUSG00000024142

DomainStartEndE-ValueType
Blast:WD40 1 28 6e-11 BLAST
WD40 31 69 1.67e-1 SMART
WD40 74 113 1.19e-6 SMART
WD40 118 156 1.63e-4 SMART
WD40 159 198 4.46e-1 SMART
WD40 209 248 2.26e-7 SMART
WD40 259 298 1.7e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000164508
AA Change: Y171*
SMART Domains Protein: ENSMUSP00000130417
Gene: ENSMUSG00000045744
AA Change: Y171*

DomainStartEndE-ValueType
BRICHOS 44 139 1.15e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179163
SMART Domains Protein: ENSMUSP00000136287
Gene: ENSMUSG00000024142

DomainStartEndE-ValueType
Pfam:WD40 8 28 3.7e-3 PFAM
WD40 31 69 1.67e-1 SMART
WD40 74 113 1.19e-6 SMART
WD40 118 156 1.63e-4 SMART
WD40 159 198 4.46e-1 SMART
WD40 209 248 2.26e-7 SMART
WD40 259 298 1.7e-2 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik A G 4: 126,505,838 (GRCm39) D122G probably benign Het
Abcc8 T C 7: 45,769,860 (GRCm39) D885G probably benign Het
Abcf1 T C 17: 36,269,230 (GRCm39) K676R probably benign Het
Acsf2 A G 11: 94,492,589 (GRCm39) V3A probably benign Het
Apba2 C T 7: 64,345,425 (GRCm39) T205I probably benign Het
Camk2d T G 3: 126,633,802 (GRCm39) N441K probably benign Het
Carm1 T C 9: 21,480,808 (GRCm39) V94A probably damaging Het
Chd3 C T 11: 69,242,920 (GRCm39) probably benign Het
Cipc A G 12: 87,008,702 (GRCm39) N166S probably damaging Het
Cln5 A C 14: 103,313,276 (GRCm39) probably null Het
Cnbd1 C A 4: 18,887,739 (GRCm39) Q258H probably benign Het
Cyp8b1 A G 9: 121,744,183 (GRCm39) L383P probably damaging Het
Dnai4 A G 4: 102,953,971 (GRCm39) V76A probably damaging Het
Dok3 A G 13: 55,671,599 (GRCm39) L324P probably damaging Het
Eftud2 A T 11: 102,761,039 (GRCm39) F102Y possibly damaging Het
Ewsr1 G A 11: 5,020,668 (GRCm39) P551S unknown Het
Fam193a G T 5: 34,600,932 (GRCm39) V346L possibly damaging Het
Golim4 A G 3: 75,785,361 (GRCm39) S677P probably damaging Het
Gpr149 A G 3: 62,437,952 (GRCm39) probably benign Het
Ins1 A T 19: 52,253,121 (GRCm39) K20N probably benign Het
Itpr2 A T 6: 146,141,760 (GRCm39) probably benign Het
Jup G A 11: 100,272,665 (GRCm39) T249I probably damaging Het
Kctd20 T A 17: 29,176,877 (GRCm39) N2K probably benign Het
Kif15 A G 9: 122,824,892 (GRCm39) probably benign Het
Klrb1-ps1 T C 6: 129,106,269 (GRCm39) noncoding transcript Het
Krtap29-1 T C 11: 99,869,884 (GRCm39) probably null Het
Lamb3 A T 1: 193,010,941 (GRCm39) probably null Het
Large1 A G 8: 73,638,750 (GRCm39) W276R probably damaging Het
Lrp1b T C 2: 41,185,684 (GRCm39) N603D probably benign Het
Lrrc37a A G 11: 103,391,207 (GRCm39) V1406A probably benign Het
Lrrc74a A G 12: 86,795,822 (GRCm39) D265G probably benign Het
Lrrfip2 G A 9: 111,048,793 (GRCm39) C250Y probably benign Het
Mbtd1 A G 11: 93,822,629 (GRCm39) probably benign Het
Msr1 A G 8: 40,042,357 (GRCm39) V406A possibly damaging Het
Mtfr1l C T 4: 134,256,491 (GRCm39) D225N probably benign Het
Nckap1l T A 15: 103,391,954 (GRCm39) S796R possibly damaging Het
Oaf T A 9: 43,136,219 (GRCm39) H119L probably benign Het
Or4d1 A T 11: 87,804,889 (GRCm39) M281K probably damaging Het
Pik3c2g A T 6: 139,806,081 (GRCm39) H516L probably damaging Het
Pkd1l3 A T 8: 110,387,434 (GRCm39) I1793F possibly damaging Het
Ptpra A G 2: 130,394,255 (GRCm39) probably benign Het
Slc25a27 C T 17: 43,974,964 (GRCm39) probably null Het
Slc2a2 A T 3: 28,752,174 (GRCm39) E3D possibly damaging Het
Slc35f5 T C 1: 125,512,292 (GRCm39) F14S probably damaging Het
Sspn T C 6: 145,907,112 (GRCm39) V105A probably damaging Het
Syvn1 T C 19: 6,100,229 (GRCm39) I263T probably damaging Het
Tek A C 4: 94,743,574 (GRCm39) D863A probably damaging Het
Tent5b C T 4: 133,213,462 (GRCm39) A111V probably damaging Het
Tm9sf4 G T 2: 153,046,536 (GRCm39) V592F probably benign Het
Tmem259 A G 10: 79,814,151 (GRCm39) M354T possibly damaging Het
Ttf2 T C 3: 100,871,409 (GRCm39) E84G possibly damaging Het
Ttyh3 T C 5: 140,612,246 (GRCm39) E487G probably damaging Het
Ubtf C A 11: 102,197,526 (GRCm39) E709* probably null Het
Vmn1r119 T C 7: 20,745,561 (GRCm39) R274G probably benign Het
Zfp804a A G 2: 82,089,546 (GRCm39) Q1125R probably damaging Het
Other mutations in Bricd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7458:Bricd5 UTSW 17 24,693,476 (GRCm39) missense probably damaging 0.98
R9408:Bricd5 UTSW 17 24,693,083 (GRCm39) unclassified probably benign
Posted On 2015-04-16