Incidental Mutation 'IGL01347:Bri3bp'
ID75077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bri3bp
Ensembl Gene ENSMUSG00000037905
Gene NameBri3 binding protein
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL01347
Quality Score
Status
Chromosome5
Chromosomal Location125441568-125460370 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 125454517 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Glycine at position 176 (C176G)
Ref Sequence ENSEMBL: ENSMUSP00000037609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049040]
Predicted Effect probably damaging
Transcript: ENSMUST00000049040
AA Change: C176G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037609
Gene: ENSMUSG00000037905
AA Change: C176G

DomainStartEndE-ValueType
signal peptide 1 40 N/A INTRINSIC
Pfam:BRI3BP 55 241 1e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198811
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,932,543 Y574F probably benign Het
Apc C T 18: 34,317,670 P2506S probably damaging Het
Bdp1 T A 13: 100,070,203 K610N possibly damaging Het
Carnmt1 A G 19: 18,691,454 I248V probably benign Het
Ccdc88b A G 19: 6,845,086 L1475P probably damaging Het
Cfap100 C T 6: 90,406,121 V511M possibly damaging Het
Chchd3 T C 6: 32,803,903 N78S probably benign Het
Cnnm4 G A 1: 36,498,034 E480K possibly damaging Het
Cyp2d34 T A 15: 82,616,777 I385F possibly damaging Het
D930048N14Rik T A 11: 51,654,788 probably benign Het
Dgkg A T 16: 22,600,590 D53E probably benign Het
Dlx3 T A 11: 95,120,533 L71H probably damaging Het
Egln2 A C 7: 27,160,292 V332G probably null Het
Entpd2 A G 2: 25,398,734 Q250R probably benign Het
Epyc A G 10: 97,674,731 D132G probably damaging Het
Fxr2 A G 11: 69,652,288 D637G probably benign Het
Gapvd1 A G 2: 34,706,696 probably null Het
Gbp11 G A 5: 105,331,328 probably benign Het
Gm17175 A T 14: 51,570,850 C162S probably damaging Het
Gm5499 C T 17: 87,078,911 noncoding transcript Het
Gm5724 A T 6: 141,754,466 Y113* probably null Het
Gps1 T C 11: 120,788,260 V378A probably benign Het
Grik1 C T 16: 87,957,593 R368Q probably benign Het
Gsap A G 5: 21,226,320 E214G probably benign Het
Hist1h2bl A G 13: 21,715,894 Y84H probably damaging Het
Jdp2 T C 12: 85,608,246 S28P probably benign Het
Kif26b T C 1: 178,870,675 F577S probably damaging Het
Kl G A 5: 150,980,665 G294D probably damaging Het
Lgsn T A 1: 31,203,960 D374E probably damaging Het
Lman1 T C 18: 65,991,610 I353V probably damaging Het
Lmna T C 3: 88,484,963 H374R probably benign Het
Lrrc57 A G 2: 120,608,805 S31P probably benign Het
Lum T A 10: 97,568,685 N147K probably damaging Het
Olfr430 T C 1: 174,070,066 I256T probably benign Het
Olfr57 A G 10: 79,035,611 T272A probably benign Het
P4ha3 C A 7: 100,305,933 L332I probably damaging Het
Pelp1 A G 11: 70,395,679 I541T probably damaging Het
Pja2 A C 17: 64,313,028 S2A probably benign Het
Rhbdl3 T C 11: 80,353,442 L325P probably damaging Het
Robo2 T C 16: 74,352,856 D28G probably damaging Het
Rpa1 A G 11: 75,307,285 Y470H probably damaging Het
Rtn3 T C 19: 7,457,280 N430S probably benign Het
Scg2 T A 1: 79,436,821 I62L probably benign Het
Scn5a T A 9: 119,562,441 K62* probably null Het
Sec23ip T C 7: 128,762,405 V469A probably benign Het
Shank1 A G 7: 44,342,120 T663A unknown Het
Stab2 G T 10: 86,901,703 probably null Het
Tmcc3 T C 10: 94,582,285 L305P probably damaging Het
Tmem145 A G 7: 25,314,835 N458S probably damaging Het
Tpr G A 1: 150,426,987 R1412Q probably damaging Het
Wdr1 A T 5: 38,545,715 F173I possibly damaging Het
Wdr17 C T 8: 54,651,345 V898I probably benign Het
Wdr64 A T 1: 175,720,333 L145F probably benign Het
Wnt10b A G 15: 98,776,945 probably benign Het
Zfyve26 A T 12: 79,252,183 probably null Het
Other mutations in Bri3bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02079:Bri3bp APN 5 125454689 missense probably damaging 0.96
IGL02081:Bri3bp APN 5 125441897 splice site probably null
R0539:Bri3bp UTSW 5 125454539 missense probably damaging 1.00
R0883:Bri3bp UTSW 5 125441744 splice site probably null
R2129:Bri3bp UTSW 5 125451671 nonsense probably null
R4703:Bri3bp UTSW 5 125451766 missense probably damaging 1.00
R4989:Bri3bp UTSW 5 125441696 unclassified probably benign
R5947:Bri3bp UTSW 5 125452153 nonsense probably null
R5947:Bri3bp UTSW 5 125452154 intron probably benign
R6369:Bri3bp UTSW 5 125454701 missense probably damaging 0.99
R7235:Bri3bp UTSW 5 125441684 missense unknown
R7937:Bri3bp UTSW 5 125454331 missense probably damaging 1.00
Posted On2013-10-07