Incidental Mutation 'IGL02899:Btbd7'
ID363510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btbd7
Ensembl Gene ENSMUSG00000041702
Gene NameBTB (POZ) domain containing 7
SynonymsFUP1, E130118E17Rik, 5730507E09Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.335) question?
Stock #IGL02899
Quality Score
Status
Chromosome12
Chromosomal Location102780797-102878471 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102837662 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 373 (L373P)
Ref Sequence ENSEMBL: ENSMUSP00000152426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045652] [ENSMUST00000223554]
Predicted Effect probably damaging
Transcript: ENSMUST00000045652
AA Change: L373P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: L373P

DomainStartEndE-ValueType
BTB 142 244 1.57e-13 SMART
BTB 247 397 2.23e-4 SMART
BACK 402 538 1.49e-4 SMART
low complexity region 626 640 N/A INTRINSIC
low complexity region 756 771 N/A INTRINSIC
low complexity region 783 792 N/A INTRINSIC
low complexity region 808 822 N/A INTRINSIC
low complexity region 839 850 N/A INTRINSIC
low complexity region 1076 1088 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221925
Predicted Effect probably damaging
Transcript: ENSMUST00000223554
AA Change: L373P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik C A 9: 103,277,574 V173L probably damaging Het
Arfgef2 A G 2: 166,869,051 probably benign Het
Capn3 A G 2: 120,491,901 N414S possibly damaging Het
Ccdc186 A T 19: 56,793,488 I753N probably benign Het
Ccser2 G A 14: 36,940,759 T156I probably benign Het
Celsr1 A G 15: 86,031,726 M682T probably damaging Het
Cep97 C A 16: 55,918,540 S267I probably damaging Het
Dhx35 A G 2: 158,801,450 Y39C probably damaging Het
Dscam A T 16: 96,709,247 D937E probably damaging Het
Elmod2 A G 8: 83,316,933 Y202H probably damaging Het
Fyco1 T C 9: 123,830,331 N260S possibly damaging Het
Gm5591 A G 7: 38,519,418 L677P probably damaging Het
Gmppa A G 1: 75,441,830 probably null Het
Hltf C T 3: 20,099,817 T639I probably damaging Het
Kpnb1 T C 11: 97,175,786 Y321C probably damaging Het
Lgr4 G A 2: 109,918,253 G45R probably damaging Het
Ltn1 T C 16: 87,382,659 D1538G probably benign Het
Maf1 T A 15: 76,353,020 probably benign Het
Morn5 T C 2: 36,055,037 F91S probably damaging Het
Ncan C T 8: 70,115,048 R138H possibly damaging Het
Olfr1328 A T 4: 118,934,662 M62K probably damaging Het
Olfr203 G T 16: 59,303,286 L44F probably damaging Het
Parg T C 14: 32,238,574 L82S probably damaging Het
Ppp2r2b A T 18: 42,645,809 H417Q probably damaging Het
Rb1cc1 T C 1: 6,264,583 L98P probably damaging Het
Ryr1 C A 7: 29,048,795 V3752L possibly damaging Het
Slc25a12 A G 2: 71,279,635 L489P probably damaging Het
Slc38a8 C T 8: 119,485,543 V354M probably benign Het
Slf2 A G 19: 44,942,020 E512G probably benign Het
Tarbp1 A G 8: 126,453,844 M597T probably damaging Het
Tgfb3 G A 12: 86,069,776 R163C probably damaging Het
Tmco5b A G 2: 113,296,920 M279V probably benign Het
Ttll9 G A 2: 153,002,951 G413D probably damaging Het
Tut1 A G 19: 8,962,387 D245G probably damaging Het
Usf3 T A 16: 44,221,226 V2023E probably damaging Het
Vps33a C T 5: 123,531,176 G554D probably damaging Het
Zfp27 C A 7: 29,896,255 R95M possibly damaging Het
Other mutations in Btbd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02047:Btbd7 APN 12 102793779 missense probably benign 0.10
IGL03204:Btbd7 APN 12 102807980 nonsense probably null
H8562:Btbd7 UTSW 12 102788302 missense probably benign 0.26
IGL03050:Btbd7 UTSW 12 102812806 missense probably benign 0.03
R1262:Btbd7 UTSW 12 102787951 missense probably benign
R1423:Btbd7 UTSW 12 102785475 missense possibly damaging 0.49
R1437:Btbd7 UTSW 12 102788090 missense possibly damaging 0.59
R1636:Btbd7 UTSW 12 102793851 missense probably damaging 1.00
R1641:Btbd7 UTSW 12 102790775 missense probably damaging 1.00
R1722:Btbd7 UTSW 12 102812654 missense possibly damaging 0.96
R1921:Btbd7 UTSW 12 102793796 missense probably benign 0.01
R2021:Btbd7 UTSW 12 102790709 missense probably damaging 1.00
R2180:Btbd7 UTSW 12 102785897 missense probably damaging 1.00
R3768:Btbd7 UTSW 12 102795192 missense probably damaging 1.00
R3770:Btbd7 UTSW 12 102795192 missense probably damaging 1.00
R3786:Btbd7 UTSW 12 102838152 missense probably benign 0.22
R4396:Btbd7 UTSW 12 102785293 missense probably benign 0.00
R4809:Btbd7 UTSW 12 102793744 critical splice donor site probably null
R4910:Btbd7 UTSW 12 102808048 missense probably damaging 0.98
R4915:Btbd7 UTSW 12 102837787 nonsense probably null
R5054:Btbd7 UTSW 12 102838212 missense probably benign 0.02
R5276:Btbd7 UTSW 12 102838392 missense probably benign 0.00
R5387:Btbd7 UTSW 12 102837785 missense probably damaging 0.99
R5665:Btbd7 UTSW 12 102785197 missense probably benign
R7083:Btbd7 UTSW 12 102788335 missense probably damaging 0.99
X0024:Btbd7 UTSW 12 102812686 nonsense probably null
X0025:Btbd7 UTSW 12 102811164 missense probably benign 0.06
Posted On2015-12-18