Incidental Mutation 'IGL01481:Tbc1d22b'
ID88622
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d22b
Ensembl Gene ENSMUSG00000042203
Gene NameTBC1 domain family, member 22B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.236) question?
Stock #IGL01481
Quality Score
Status
Chromosome17
Chromosomal Location29549788-29606895 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 29568598 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 107 (L107P)
Ref Sequence ENSEMBL: ENSMUSP00000046877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048677]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048677
AA Change: L107P

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000046877
Gene: ENSMUSG00000042203
AA Change: L107P

DomainStartEndE-ValueType
Blast:TBC 23 93 6e-12 BLAST
TBC 207 460 1.25e-56 SMART
Blast:TBC 464 504 4e-18 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160114
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,933,098 S523C probably damaging Het
Apaf1 A T 10: 91,031,588 D798E possibly damaging Het
Arhgef7 G T 8: 11,815,256 V410L probably benign Het
Capn7 T C 14: 31,355,339 L338P probably damaging Het
Cldn17 A G 16: 88,506,583 V86A probably benign Het
Clec4a2 A G 6: 123,142,500 N237S probably benign Het
Cmtr1 T G 17: 29,698,657 I654S probably benign Het
Cryzl2 G A 1: 157,470,739 probably null Het
Ctif A G 18: 75,611,784 probably benign Het
Dcaf7 T A 11: 106,054,746 I307N probably damaging Het
Drosha A T 15: 12,842,439 T399S probably benign Het
Eef2k A T 7: 120,895,218 Y35F probably benign Het
Emc1 T C 4: 139,362,099 S193P probably benign Het
Fpr2 T C 17: 17,892,763 I7T probably benign Het
Fras1 C A 5: 96,657,241 N1247K probably damaging Het
Gipr T C 7: 19,159,506 probably benign Het
Heatr5a C T 12: 51,955,425 G243S probably damaging Het
Hivep2 G A 10: 14,149,237 R2265Q probably benign Het
Iars T C 13: 49,728,698 S1073P probably benign Het
Inpp4b T C 8: 81,997,380 S514P probably damaging Het
Inpp5b T A 4: 124,800,699 probably null Het
Itga2 C T 13: 114,859,632 V708I possibly damaging Het
Itih5 A C 2: 10,190,289 Q164P probably damaging Het
Map3k19 T A 1: 127,822,478 E1045D probably damaging Het
Mbd5 T C 2: 49,278,939 V1374A possibly damaging Het
Mrps34 T C 17: 24,897,336 probably benign Het
Nadsyn1 T C 7: 143,812,584 D191G probably damaging Het
Nlrc3 T G 16: 3,963,905 N563H probably damaging Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Olfr1252 A G 2: 89,721,526 L195P probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr654 C A 7: 104,587,860 P36T probably damaging Het
Olfr981 T C 9: 40,023,278 M295T possibly damaging Het
Pdgfd C A 9: 6,337,271 T195K probably null Het
Ptprz1 C A 6: 22,999,980 Q690K probably benign Het
Scfd1 T A 12: 51,384,120 M23K probably damaging Het
Scn10a G A 9: 119,609,194 R1869C probably damaging Het
Scp2 T C 4: 108,074,442 probably null Het
Sec61a1 A G 6: 88,506,847 V354A probably benign Het
Sgpp1 T C 12: 75,722,657 I246V probably benign Het
Slco2a1 G T 9: 103,070,251 D250Y probably damaging Het
Slit2 A G 5: 48,302,931 N1435D probably benign Het
Sspo A G 6: 48,448,515 I23M probably benign Het
Steap4 A T 5: 7,976,858 T274S probably damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tmem45a2 T A 16: 57,047,012 I109F probably benign Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Tox T A 4: 6,842,396 T45S probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Wdr7 G A 18: 63,739,179 D395N probably damaging Het
Other mutations in Tbc1d22b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01836:Tbc1d22b APN 17 29599958 missense probably damaging 1.00
R1524:Tbc1d22b UTSW 17 29570611 missense probably damaging 0.99
R1681:Tbc1d22b UTSW 17 29575177 missense possibly damaging 0.46
R1757:Tbc1d22b UTSW 17 29571673 missense probably damaging 1.00
R2268:Tbc1d22b UTSW 17 29599854 missense probably damaging 1.00
R5656:Tbc1d22b UTSW 17 29594780 missense probably damaging 1.00
R5832:Tbc1d22b UTSW 17 29570647 missense possibly damaging 0.80
R6892:Tbc1d22b UTSW 17 29595890 missense possibly damaging 0.80
R7095:Tbc1d22b UTSW 17 29599869 missense probably damaging 0.96
Posted On2013-11-18