Incidental Mutation 'IGL03136:Brix1'
ID410516
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brix1
Ensembl Gene ENSMUSG00000022247
Gene NameBRX1, biogenesis of ribosomes
Synonyms1110064N10Rik, Bxdc2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.970) question?
Stock #IGL03136
Quality Score
Status
Chromosome15
Chromosomal Location10474779-10485947 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 10478766 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 189 (F189S)
Ref Sequence ENSEMBL: ENSMUSP00000022855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022855] [ENSMUST00000168761] [ENSMUST00000169050]
Predicted Effect probably damaging
Transcript: ENSMUST00000022855
AA Change: F189S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022855
Gene: ENSMUSG00000022247
AA Change: F189S

DomainStartEndE-ValueType
Brix 63 243 3.62e-58 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168690
SMART Domains Protein: ENSMUSP00000132283
Gene: ENSMUSG00000022247

DomainStartEndE-ValueType
Brix 22 147 5.12e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168761
SMART Domains Protein: ENSMUSP00000130602
Gene: ENSMUSG00000022247

DomainStartEndE-ValueType
Blast:Brix 10 51 5e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000169050
SMART Domains Protein: ENSMUSP00000127437
Gene: ENSMUSG00000022247

DomainStartEndE-ValueType
Pfam:Brix 72 154 8.8e-19 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik A G 11: 25,769,122 L7S unknown Het
Abr C T 11: 76,425,295 W571* probably null Het
Adam18 A T 8: 24,641,836 C420S probably damaging Het
Akap5 G T 12: 76,329,875 E694* probably null Het
Bbs1 T C 19: 4,890,991 K565R probably benign Het
Cnot4 C A 6: 35,051,241 R480L probably damaging Het
Ctu2 A G 8: 122,479,201 probably benign Het
Dhcr7 A G 7: 143,847,366 H422R probably damaging Het
Dock1 A G 7: 135,168,389 M1793V probably benign Het
Dock7 A G 4: 99,003,791 F853L probably damaging Het
Fkbp15 G A 4: 62,340,229 probably benign Het
Ftsj3 C T 11: 106,253,813 D117N probably damaging Het
Gphn A G 12: 78,481,333 I142V possibly damaging Het
Hsd3b1 G A 3: 98,852,985 A230V probably damaging Het
Hydin G A 8: 110,418,524 A836T probably benign Het
Ift52 G T 2: 163,025,334 E71* probably null Het
Ms4a14 T C 19: 11,304,411 D261G possibly damaging Het
Nid1 G A 13: 13,500,499 V935I probably benign Het
Nrap T C 19: 56,342,255 K1008E possibly damaging Het
Nup210 A C 6: 91,028,861 V1340G probably benign Het
Olfr1442 T A 19: 12,674,967 I254N probably damaging Het
Olfr169 A T 16: 19,566,353 F177I probably damaging Het
Olfr974 T C 9: 39,943,036 Y259H probably damaging Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Pdcd6ip T A 9: 113,691,499 N139I probably damaging Het
Pgbd1 A G 13: 21,433,439 V80A possibly damaging Het
Pigw A G 11: 84,877,777 I242T probably benign Het
Prtg T G 9: 72,856,985 V580G possibly damaging Het
Ptpn13 T A 5: 103,543,463 N1065K possibly damaging Het
Qrich1 G A 9: 108,544,918 R577H probably damaging Het
Ryr3 G A 2: 112,675,974 probably benign Het
Selenoi T C 5: 30,257,727 Y197H probably damaging Het
Slc47a2 A G 11: 61,310,765 C343R probably benign Het
Smurf2 A T 11: 106,831,048 D527E probably benign Het
Spam1 C T 6: 24,797,011 probably benign Het
Stkld1 T C 2: 26,951,423 V460A probably benign Het
Tgoln1 G A 6: 72,614,113 R339W probably damaging Het
Tprg T C 16: 25,412,762 probably benign Het
Treml1 T G 17: 48,364,851 probably benign Het
Ttc39b A T 4: 83,237,280 V497E probably damaging Het
Vmn1r223 A G 13: 23,249,763 T176A possibly damaging Het
Vmn2r75 A T 7: 86,148,703 I634N possibly damaging Het
Vps13c A G 9: 67,950,310 E2608G probably damaging Het
Zfp575 A G 7: 24,585,956 C87R probably damaging Het
Zfp790 T A 7: 29,829,895 Y668* probably null Het
Other mutations in Brix1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1266:Brix1 UTSW 15 10478761 missense probably damaging 1.00
R4276:Brix1 UTSW 15 10481747 missense possibly damaging 0.60
R4320:Brix1 UTSW 15 10483312 missense probably damaging 1.00
R4824:Brix1 UTSW 15 10485742 missense possibly damaging 0.90
R4902:Brix1 UTSW 15 10483292 splice site probably null
R6018:Brix1 UTSW 15 10476589 missense probably benign 0.26
R6019:Brix1 UTSW 15 10476589 missense probably benign 0.26
R6021:Brix1 UTSW 15 10476589 missense probably benign 0.26
R6022:Brix1 UTSW 15 10476589 missense probably benign 0.26
R7203:Brix1 UTSW 15 10483292 splice site probably null
R7218:Brix1 UTSW 15 10483292 splice site probably null
R7522:Brix1 UTSW 15 10476590 missense probably damaging 1.00
R8390:Brix1 UTSW 15 10485868 missense probably benign
X0023:Brix1 UTSW 15 10478686 missense probably damaging 1.00
Posted On2016-08-02