Incidental Mutation 'IGL01836:Tbc1d22b'
ID 154959
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d22b
Ensembl Gene ENSMUSG00000042203
Gene Name TBC1 domain family, member 22B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock # IGL01836
Quality Score
Status
Chromosome 17
Chromosomal Location 29549788-29606895 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29599958 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 429 (T429A)
Ref Sequence ENSEMBL: ENSMUSP00000046877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048677]
AlphaFold Q80VE5
Predicted Effect probably damaging
Transcript: ENSMUST00000048677
AA Change: T429A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046877
Gene: ENSMUSG00000042203
AA Change: T429A

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: ENSMUST00000159875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160114
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183866
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh6a A G 3: 138,313,336 probably benign Het
Atp1a1 C T 3: 101,591,414 G188R probably damaging Het
Cadps A G 14: 12,522,311 Y618H probably damaging Het
Dot1l T C 10: 80,785,866 S451P probably benign Het
Dpysl4 G A 7: 139,096,173 V294I possibly damaging Het
Ehmt1 T A 2: 24,863,220 probably null Het
Eps8 C T 6: 137,483,541 probably null Het
Gm7247 T A 14: 51,365,396 I63K probably damaging Het
Gsdme T A 6: 50,222,789 D270V probably damaging Het
Kel T A 6: 41,697,438 T353S possibly damaging Het
Krt73 T C 15: 101,795,896 H403R probably benign Het
Mrnip A G 11: 50,199,848 T280A probably benign Het
Olfr342 C T 2: 36,527,825 Q138* probably null Het
Pkdrej A G 15: 85,820,958 L259P probably damaging Het
Plod2 T C 9: 92,606,498 probably benign Het
Rad54l2 A G 9: 106,716,157 S415P probably benign Het
Rag1 A T 2: 101,641,894 F968I probably damaging Het
Rreb1 T C 13: 37,931,457 S931P probably damaging Het
Sec23a T C 12: 58,971,287 I618V probably damaging Het
Smtnl1 A T 2: 84,815,370 F386I probably damaging Het
Sppl2b C T 10: 80,861,386 T30I probably benign Het
Srf T C 17: 46,549,182 probably benign Het
Tcf20 A T 15: 82,855,155 D698E probably damaging Het
Tmem106c C A 15: 97,969,686 S250R probably benign Het
Tmprss3 A G 17: 31,191,044 S199P probably benign Het
Ush2a C T 1: 188,759,863 probably benign Het
Zfp595 A G 13: 67,332,461 probably benign Het
Other mutations in Tbc1d22b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01481:Tbc1d22b APN 17 29568598 missense possibly damaging 0.60
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
R7780:Tbc1d22b UTSW 17 29573066 missense probably benign 0.06
R8121:Tbc1d22b UTSW 17 29572971 missense probably damaging 1.00
R8784:Tbc1d22b UTSW 17 29599944 missense probably damaging 1.00
R8964:Tbc1d22b UTSW 17 29600228 missense probably damaging 1.00
R9641:Tbc1d22b UTSW 17 29594773 missense possibly damaging 0.83
Posted On 2014-02-04