Incidental Mutation 'IGL03223:Btbd10'
ID413698
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btbd10
Ensembl Gene ENSMUSG00000038187
Gene NameBTB (POZ) domain containing 10
SynonymsGmrp1, 1110056N09Rik
Accession Numbers

Ncbi RefSeq: NM_133700.2; MGI:1916065

Is this an essential gene? Possibly non essential (E-score: 0.367) question?
Stock #IGL03223
Quality Score
Status
Chromosome7
Chromosomal Location113315626-113369392 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 113332670 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 175 (N175S)
Ref Sequence ENSEMBL: ENSMUSP00000114806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047091] [ENSMUST00000117577] [ENSMUST00000119278] [ENSMUST00000135510]
Predicted Effect probably damaging
Transcript: ENSMUST00000047091
AA Change: N175S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048530
Gene: ENSMUSG00000038187
AA Change: N175S

DomainStartEndE-ValueType
low complexity region 60 75 N/A INTRINSIC
low complexity region 106 147 N/A INTRINSIC
BTB 167 272 1.58e-4 SMART
low complexity region 311 322 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117577
AA Change: N183S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113496
Gene: ENSMUSG00000038187
AA Change: N183S

DomainStartEndE-ValueType
low complexity region 68 83 N/A INTRINSIC
low complexity region 114 155 N/A INTRINSIC
BTB 175 280 1.58e-4 SMART
low complexity region 319 330 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000119278
AA Change: N127S

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113632
Gene: ENSMUSG00000038187
AA Change: N127S

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
low complexity region 58 99 N/A INTRINSIC
BTB 119 224 1.58e-4 SMART
low complexity region 263 274 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000135510
AA Change: N175S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114806
Gene: ENSMUSG00000038187
AA Change: N175S

DomainStartEndE-ValueType
low complexity region 60 75 N/A INTRINSIC
low complexity region 106 147 N/A INTRINSIC
SCOP:d1t1da_ 167 198 3e-6 SMART
Blast:BTB 167 200 1e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139650
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(12) : Targeted(2) Gene trapped(10)

Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3b1 T A 19: 3,915,329 H394L probably damaging Het
B430306N03Rik G A 17: 48,316,868 V66I probably damaging Het
Dock4 C A 12: 40,817,594 Q1390K probably damaging Het
Eea1 A C 10: 96,039,611 E1248A probably damaging Het
Farp2 T A 1: 93,617,602 Y827* probably null Het
Gcc2 A G 10: 58,298,734 Y1510C probably damaging Het
Igfbp7 A C 5: 77,349,471 probably benign Het
Il1rapl1 A C X: 87,300,735 C185G probably damaging Het
Itga7 A G 10: 128,948,811 probably benign Het
Itsn1 T C 16: 91,905,306 V12A probably benign Het
Lrrc4 A T 6: 28,831,470 C49S probably damaging Het
Lrrc49 T A 9: 60,687,845 K5N possibly damaging Het
Myh13 T C 11: 67,350,242 I815T probably benign Het
Myh8 T C 11: 67,283,818 I253T probably damaging Het
Myo19 A G 11: 84,910,471 T948A possibly damaging Het
Nhs T A X: 161,841,906 I837F probably damaging Het
Olfr1450 T C 19: 12,953,904 V105A probably benign Het
Olfr1467 G T 19: 13,365,281 V218L probably benign Het
Pfpl A T 19: 12,430,074 Q563L probably damaging Het
Swt1 A G 1: 151,379,419 M809T possibly damaging Het
Tbc1d13 T A 2: 30,148,636 I311N probably damaging Het
Tgs1 T C 4: 3,591,322 probably benign Het
Usf3 C T 16: 44,216,450 T431M probably damaging Het
Vdac1 G A 11: 52,376,655 R93H probably benign Het
Vmn1r234 G A 17: 21,229,391 G189D probably damaging Het
Zfp14 A G 7: 30,038,433 Y376H probably damaging Het
Zfp472 T C 17: 32,977,274 C108R probably benign Het
Zfp658 A G 7: 43,567,311 E35G possibly damaging Het
Other mutations in Btbd10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Btbd10 APN 7 113316556 missense probably damaging 1.00
I1329:Btbd10 UTSW 7 113332875 missense probably benign 0.00
R0022:Btbd10 UTSW 7 113325781 nonsense probably null
R0022:Btbd10 UTSW 7 113325781 nonsense probably null
R0136:Btbd10 UTSW 7 113329878 missense possibly damaging 0.54
R0299:Btbd10 UTSW 7 113329878 missense possibly damaging 0.54
R0599:Btbd10 UTSW 7 113335309 splice site probably benign
R0657:Btbd10 UTSW 7 113329878 missense possibly damaging 0.54
R1401:Btbd10 UTSW 7 113347059 missense probably benign 0.06
R2916:Btbd10 UTSW 7 113332824 missense probably benign
R3429:Btbd10 UTSW 7 113351809 nonsense probably null
R3430:Btbd10 UTSW 7 113351809 nonsense probably null
R4578:Btbd10 UTSW 7 113322752 missense possibly damaging 0.93
R4626:Btbd10 UTSW 7 113328398 missense probably damaging 0.96
R5067:Btbd10 UTSW 7 113325836 missense probably damaging 0.99
R5480:Btbd10 UTSW 7 113316707 missense probably damaging 1.00
R5667:Btbd10 UTSW 7 113332724 missense probably damaging 1.00
R6468:Btbd10 UTSW 7 113347059 missense probably benign 0.06
R6877:Btbd10 UTSW 7 113322760 missense probably damaging 1.00
R6952:Btbd10 UTSW 7 113351943 splice site probably null
R7059:Btbd10 UTSW 7 113329922 missense probably damaging 0.97
X0027:Btbd10 UTSW 7 113316698 missense probably damaging 1.00
Posted On2016-08-02