Incidental Mutation 'IGL01928:Brd9'
ID180351
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brd9
Ensembl Gene ENSMUSG00000057649
Gene Namebromodomain containing 9
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01928
Quality Score
Status
Chromosome13
Chromosomal Location73937811-73960895 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 73955511 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 503 (M503I)
Ref Sequence ENSEMBL: ENSMUSP00000152390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099384] [ENSMUST00000222399]
Predicted Effect probably benign
Transcript: ENSMUST00000099384
AA Change: M504I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000096982
Gene: ENSMUSG00000057649
AA Change: M504I

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
coiled coil region 53 104 N/A INTRINSIC
low complexity region 116 127 N/A INTRINSIC
BROMO 134 242 1.52e-30 SMART
low complexity region 249 264 N/A INTRINSIC
Pfam:DUF3512 274 505 1.6e-82 PFAM
low complexity region 544 557 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222191
Predicted Effect probably benign
Transcript: ENSMUST00000222399
AA Change: M503I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223446
Predicted Effect probably benign
Transcript: ENSMUST00000223525
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,683,342 T5024S probably benign Het
Adam23 C A 1: 63,557,446 N562K probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cyp2j8 A T 4: 96,470,476 probably benign Het
Erich6 T C 3: 58,621,271 I519M probably damaging Het
Fscn3 A G 6: 28,430,182 E117G possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm45234 A G 6: 124,745,004 probably benign Het
Ighv1-47 T A 12: 114,991,293 M56L probably benign Het
Klf4 A G 4: 55,530,949 L45P probably benign Het
Ksr1 A C 11: 79,044,839 probably null Het
L3mbtl3 T C 10: 26,330,245 N341S unknown Het
Mfsd12 T C 10: 81,365,788 probably benign Het
Nlrp9c A T 7: 26,375,422 probably benign Het
Ntrk2 T A 13: 58,846,851 C194S probably damaging Het
Olfm4 G A 14: 80,011,952 V170I possibly damaging Het
Olfr936 A C 9: 39,047,413 D46E unknown Het
Onecut1 C A 9: 74,889,533 Q445K possibly damaging Het
Pak6 A G 2: 118,689,864 Q112R probably damaging Het
Pisd C A 5: 32,739,132 probably null Het
Rapgef2 C T 3: 79,103,963 E124K probably damaging Het
Snx14 T C 9: 88,381,512 T893A probably benign Het
Spag17 T C 3: 99,940,074 probably benign Het
Tgds T C 14: 118,116,129 T259A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zc3h12a A G 4: 125,119,986 S362P probably benign Het
Zfyve16 A G 13: 92,504,498 I1246T probably damaging Het
Other mutations in Brd9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Brd9 APN 13 73938547 missense probably damaging 0.98
IGL01461:Brd9 APN 13 73951598 nonsense probably null
R0379:Brd9 UTSW 13 73942683 splice site probably benign
R0420:Brd9 UTSW 13 73955473 missense probably benign
R0788:Brd9 UTSW 13 73944867 splice site probably benign
R1539:Brd9 UTSW 13 73944743 missense probably damaging 0.99
R4095:Brd9 UTSW 13 73944799 missense probably benign 0.19
R4582:Brd9 UTSW 13 73947733 missense probably benign 0.00
R4648:Brd9 UTSW 13 73940776 missense probably benign 0.37
R4915:Brd9 UTSW 13 73938455 missense probably damaging 0.99
R6054:Brd9 UTSW 13 73940741 missense probably damaging 1.00
R6175:Brd9 UTSW 13 73960314 missense probably damaging 0.98
R6462:Brd9 UTSW 13 73940669 missense probably damaging 1.00
R6520:Brd9 UTSW 13 73942794 missense probably benign 0.00
R7217:Brd9 UTSW 13 73938944 missense probably damaging 1.00
R7360:Brd9 UTSW 13 73944823 missense probably benign 0.07
R7422:Brd9 UTSW 13 73954578 missense probably benign
R7556:Brd9 UTSW 13 73944767 missense possibly damaging 0.83
R7844:Brd9 UTSW 13 73938533 missense probably damaging 1.00
R7927:Brd9 UTSW 13 73938533 missense probably damaging 1.00
Z1176:Brd9 UTSW 13 73944751 missense probably damaging 1.00
Posted On2014-05-07