Incidental Mutation 'IGL01751:Btbd11'
ID278827
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btbd11
Ensembl Gene ENSMUSG00000020042
Gene NameBTB (POZ) domain containing 11
Synonyms6330404E16Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.279) question?
Stock #IGL01751
Quality Score
Status
Chromosome10
Chromosomal Location85386814-85660292 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 85654502 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 1011 (Q1011K)
Ref Sequence ENSEMBL: ENSMUSP00000100944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105306] [ENSMUST00000105307]
Predicted Effect possibly damaging
Transcript: ENSMUST00000105306
AA Change: Q542K

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000100943
Gene: ENSMUSG00000020042
AA Change: Q542K

DomainStartEndE-ValueType
ANK 139 168 2.74e-7 SMART
ANK 185 214 7.3e-3 SMART
ANK 223 252 1.05e-3 SMART
ANK 266 296 2.21e3 SMART
BTB 459 558 5.38e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105307
AA Change: Q1011K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100944
Gene: ENSMUSG00000020042
AA Change: Q1011K

DomainStartEndE-ValueType
low complexity region 101 109 N/A INTRINSIC
low complexity region 174 194 N/A INTRINSIC
Blast:H2A 195 261 5e-37 BLAST
low complexity region 262 285 N/A INTRINSIC
low complexity region 292 344 N/A INTRINSIC
Blast:H2A 350 384 1e-15 BLAST
ANK 608 637 2.74e-7 SMART
ANK 654 683 7.3e-3 SMART
ANK 692 721 1.05e-3 SMART
ANK 735 765 2.21e3 SMART
BTB 928 1027 5.38e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156123
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,930,588 H174L possibly damaging Het
1700018F24Rik A G 5: 145,043,171 probably null Het
Auts2 G T 5: 131,472,360 Q72K probably damaging Het
Ccdc7b A T 8: 129,136,568 probably benign Het
Frem3 A G 8: 80,615,743 E1555G probably benign Het
Gm1966 T A 7: 106,602,309 N576I possibly damaging Het
Gm5263 T G 1: 146,420,564 noncoding transcript Het
Gm5828 A G 1: 16,769,984 noncoding transcript Het
Gm6605 T C 7: 38,448,206 noncoding transcript Het
Hps3 T C 3: 20,010,966 D638G probably damaging Het
Igdcc4 A T 9: 65,131,732 N887I probably damaging Het
Itpkc G A 7: 27,213,066 probably benign Het
Mfge8 A G 7: 79,136,655 probably null Het
Mrc2 G T 11: 105,325,734 L116F probably benign Het
Necab1 T C 4: 14,978,171 D226G probably damaging Het
Neurod2 T C 11: 98,327,375 E321G possibly damaging Het
Obp2b G T 2: 25,737,748 V59L possibly damaging Het
Olfr1173 A T 2: 88,274,633 C139S possibly damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr292 A T 7: 86,694,789 Q111L probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Olr1 T C 6: 129,488,848 N65S possibly damaging Het
Rock1 A G 18: 10,079,113 probably null Het
Scn3a T A 2: 65,461,252 M1717L possibly damaging Het
Smg7 T C 1: 152,844,061 D903G possibly damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Ttll9 A T 2: 152,983,105 N68I probably damaging Het
Ttn A G 2: 76,737,599 V25904A possibly damaging Het
Uaca G A 9: 60,869,857 V507M probably damaging Het
Vmn1r195 G T 13: 22,279,251 C297F probably benign Het
Zdhhc2 G A 8: 40,473,001 A346T probably benign Het
Other mutations in Btbd11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00666:Btbd11 APN 10 85629216 missense possibly damaging 0.87
IGL01143:Btbd11 APN 10 85654471 splice site probably benign
IGL01365:Btbd11 APN 10 85633816 missense possibly damaging 0.75
IGL01409:Btbd11 APN 10 85658165 missense possibly damaging 0.88
IGL01531:Btbd11 APN 10 85629205 splice site probably benign
IGL01593:Btbd11 APN 10 85654475 splice site probably benign
IGL01752:Btbd11 APN 10 85654502 missense probably damaging 1.00
IGL02041:Btbd11 APN 10 85387554 missense unknown
IGL02486:Btbd11 APN 10 85640555 missense probably damaging 1.00
IGL02597:Btbd11 APN 10 85633801 missense probably damaging 1.00
IGL02957:Btbd11 APN 10 85633837 missense probably damaging 1.00
IGL02957:Btbd11 APN 10 85631286 splice site probably benign
IGL02967:Btbd11 APN 10 85633782 missense probably benign 0.11
IGL02975:Btbd11 APN 10 85631343 missense probably benign 0.16
IGL03078:Btbd11 APN 10 85632163 missense probably damaging 1.00
IGL03130:Btbd11 APN 10 85388483 splice site probably null
IGL03335:Btbd11 APN 10 85658358 utr 3 prime probably benign
R0024:Btbd11 UTSW 10 85387447 missense unknown
R0599:Btbd11 UTSW 10 85658336 missense probably damaging 1.00
R0655:Btbd11 UTSW 10 85645526 missense probably damaging 1.00
R0660:Btbd11 UTSW 10 85388370 missense possibly damaging 0.65
R0664:Btbd11 UTSW 10 85388370 missense possibly damaging 0.65
R1155:Btbd11 UTSW 10 85629291 missense probably damaging 1.00
R1244:Btbd11 UTSW 10 85387363 missense unknown
R1389:Btbd11 UTSW 10 85640596 missense possibly damaging 0.76
R1418:Btbd11 UTSW 10 85645578 missense probably damaging 1.00
R1703:Btbd11 UTSW 10 85387384 missense unknown
R1957:Btbd11 UTSW 10 85633699 missense probably damaging 1.00
R2519:Btbd11 UTSW 10 85651611 missense probably damaging 1.00
R3716:Btbd11 UTSW 10 85561528 missense probably damaging 1.00
R3915:Btbd11 UTSW 10 85632270 missense probably damaging 1.00
R4738:Btbd11 UTSW 10 85627248 nonsense probably null
R4782:Btbd11 UTSW 10 85654550 missense probably damaging 1.00
R4846:Btbd11 UTSW 10 85629266 missense probably damaging 1.00
R4887:Btbd11 UTSW 10 85387378 missense unknown
R4960:Btbd11 UTSW 10 85651662 missense probably benign 0.34
R5224:Btbd11 UTSW 10 85645522 small deletion probably benign
R5341:Btbd11 UTSW 10 85387372 missense unknown
R5713:Btbd11 UTSW 10 85651652 missense probably damaging 1.00
R6046:Btbd11 UTSW 10 85388083 missense unknown
R6461:Btbd11 UTSW 10 85640564 missense probably damaging 1.00
R6809:Btbd11 UTSW 10 85631376 missense probably benign 0.01
X0020:Btbd11 UTSW 10 85631352 missense possibly damaging 0.86
Z1088:Btbd11 UTSW 10 85387857 missense probably benign 0.23
Posted On2015-04-16