Incidental Mutation 'IGL02137:Tbc1d22a'
ID281360
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d22a
Ensembl Gene ENSMUSG00000051864
Gene NameTBC1 domain family, member 22a
SynonymsD15Ertd781e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL02137
Quality Score
Status
Chromosome15
Chromosomal Location86214459-86498503 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86299669 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 243 (D243G)
Ref Sequence ENSEMBL: ENSMUSP00000065721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063414]
Predicted Effect probably benign
Transcript: ENSMUST00000063414
AA Change: D243G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000065721
Gene: ENSMUSG00000051864
AA Change: D243G

DomainStartEndE-ValueType
Blast:TBC 25 94 5e-34 BLAST
low complexity region 118 133 N/A INTRINSIC
TBC 218 471 2.35e-43 SMART
Blast:TBC 476 515 1e-9 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833427G06Rik T C 9: 51,086,108 probably benign Het
4930595M18Rik T C X: 81,457,656 D116G probably benign Het
Acp2 G T 2: 91,203,683 G66V probably damaging Het
Adam32 C T 8: 24,872,594 G605D probably damaging Het
Adam4 T C 12: 81,421,103 D248G possibly damaging Het
Adamts15 C A 9: 30,910,660 G494W probably damaging Het
Arfgef1 A T 1: 10,213,113 N190K probably damaging Het
Bach2 C T 4: 32,501,621 probably benign Het
Bloc1s1 T C 10: 128,922,648 probably benign Het
Casz1 G T 4: 148,933,468 A405S possibly damaging Het
Cplx4 T C 18: 65,957,054 D98G probably benign Het
Dync2h1 T C 9: 7,134,349 N1553D probably benign Het
Erich5 G A 15: 34,470,754 C43Y probably damaging Het
Exosc10 A C 4: 148,561,133 R123S probably damaging Het
Inpp5f T C 7: 128,695,129 V377A probably damaging Het
Lrp1b T C 2: 40,730,688 probably benign Het
Mrps17 G A 5: 129,716,783 V14M probably benign Het
Mtrr G A 13: 68,568,801 S431F possibly damaging Het
Myo5a T C 9: 75,161,535 probably null Het
Nsfl1c T A 2: 151,509,589 I291N probably damaging Het
Ntsr1 T A 2: 180,538,835 probably null Het
Olfr732 T C 14: 50,281,678 T192A probably benign Het
Park7 T C 4: 150,903,831 I102M probably benign Het
Pik3c2a T A 7: 116,350,804 Q1326L probably benign Het
Rapgef3 T C 15: 97,750,144 D693G probably benign Het
Rep15 G A 6: 147,033,347 R228H probably benign Het
Slc25a1 A G 16: 17,927,370 V100A probably benign Het
Slc9a4 T C 1: 40,600,899 F284L possibly damaging Het
Sox10 G T 15: 79,159,193 D52E probably benign Het
St3gal5 C A 6: 72,128,282 T6N probably benign Het
Tll1 T C 8: 64,016,098 Y997C possibly damaging Het
Tmem8b A T 4: 43,689,434 H276L probably benign Het
Tnpo3 T C 6: 29,609,451 Y12C probably damaging Het
Tns3 A T 11: 8,492,578 M595K possibly damaging Het
Trav18 T A 14: 53,831,735 M78K probably benign Het
Uba7 A G 9: 107,979,753 probably benign Het
Vmn1r167 A T 7: 23,505,439 S51T probably damaging Het
Vmn1r83 A T 7: 12,321,834 Y99N probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Other mutations in Tbc1d22a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01022:Tbc1d22a APN 15 86301555 missense probably damaging 1.00
IGL01483:Tbc1d22a APN 15 86391203 missense probably benign 0.24
IGL02543:Tbc1d22a APN 15 86239171 missense probably benign 0.30
R0138:Tbc1d22a UTSW 15 86299684 missense probably damaging 1.00
R1168:Tbc1d22a UTSW 15 86292134 missense probably benign 0.01
R1294:Tbc1d22a UTSW 15 86496826 missense probably damaging 0.98
R1565:Tbc1d22a UTSW 15 86235569 missense possibly damaging 0.48
R1586:Tbc1d22a UTSW 15 86351651 splice site probably null
R1703:Tbc1d22a UTSW 15 86239215 missense probably benign 0.09
R1822:Tbc1d22a UTSW 15 86235569 missense possibly damaging 0.48
R1823:Tbc1d22a UTSW 15 86235569 missense possibly damaging 0.48
R1824:Tbc1d22a UTSW 15 86235569 missense possibly damaging 0.48
R1925:Tbc1d22a UTSW 15 86239149 missense probably damaging 1.00
R2014:Tbc1d22a UTSW 15 86299684 missense probably damaging 0.99
R2015:Tbc1d22a UTSW 15 86299684 missense probably damaging 0.99
R2035:Tbc1d22a UTSW 15 86391065 splice site probably null
R4380:Tbc1d22a UTSW 15 86351734 missense probably damaging 1.00
R4616:Tbc1d22a UTSW 15 86235685 missense probably damaging 1.00
R4690:Tbc1d22a UTSW 15 86311836 missense probably damaging 1.00
R4825:Tbc1d22a UTSW 15 86351734 missense probably damaging 1.00
R4883:Tbc1d22a UTSW 15 86496916 missense possibly damaging 0.91
R4920:Tbc1d22a UTSW 15 86311748 missense probably benign 0.20
R4979:Tbc1d22a UTSW 15 86391086 missense probably damaging 1.00
R5913:Tbc1d22a UTSW 15 86351728 missense probably damaging 0.98
R5916:Tbc1d22a UTSW 15 86214608 missense possibly damaging 0.57
R6360:Tbc1d22a UTSW 15 86214629 missense probably damaging 1.00
R6483:Tbc1d22a UTSW 15 86301567 missense possibly damaging 0.48
R7138:Tbc1d22a UTSW 15 86239155 missense not run
Posted On2015-04-16