Incidental Mutation 'IGL02543:Tbc1d22a'
ID 298281
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d22a
Ensembl Gene ENSMUSG00000051864
Gene Name TBC1 domain family, member 22a
Synonyms D15Ertd781e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02543
Quality Score
Status
Chromosome 15
Chromosomal Location 86098660-86382704 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86123372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 135 (A135V)
Ref Sequence ENSEMBL: ENSMUSP00000155727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063414] [ENSMUST00000229242]
AlphaFold Q8R5A6
Predicted Effect probably benign
Transcript: ENSMUST00000063414
AA Change: A171V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000065721
Gene: ENSMUSG00000051864
AA Change: A171V

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
Predicted Effect probably benign
Transcript: ENSMUST00000229242
AA Change: A135V

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G T 19: 31,895,495 (GRCm39) A193S probably damaging Het
Adcy4 T C 14: 56,006,627 (GRCm39) T1069A probably benign Het
Arg2 A T 12: 79,197,533 (GRCm39) I184F probably benign Het
Asb18 G A 1: 89,942,113 (GRCm39) P63S probably damaging Het
Cep85 T C 4: 133,883,634 (GRCm39) H85R possibly damaging Het
Chfr A G 5: 110,291,413 (GRCm39) probably null Het
Cog2 A G 8: 125,256,698 (GRCm39) N148S probably benign Het
Csgalnact1 T C 8: 68,913,720 (GRCm39) T162A probably damaging Het
Ddi1 C T 9: 6,266,183 (GRCm39) G62D possibly damaging Het
Dhx33 T C 11: 70,878,066 (GRCm39) Y435C probably damaging Het
Dsc3 A T 18: 20,098,885 (GRCm39) C765S probably benign Het
Egfem1 T A 3: 29,722,529 (GRCm39) D362E probably benign Het
Gm28040 A T 1: 133,247,069 (GRCm39) I26F possibly damaging Het
Gm28778 T C 1: 53,338,202 (GRCm39) M22T probably benign Het
Hdac1-ps A G 17: 78,799,303 (GRCm39) E98G probably damaging Het
Hipk2 A G 6: 38,680,436 (GRCm39) I968T possibly damaging Het
Hlx T G 1: 184,462,948 (GRCm39) S235R probably damaging Het
Jag1 T C 2: 136,933,867 (GRCm39) probably benign Het
Kdr A G 5: 76,125,607 (GRCm39) probably benign Het
Klhl3 T C 13: 58,166,685 (GRCm39) E435G probably damaging Het
L3mbtl4 T C 17: 68,768,607 (GRCm39) probably benign Het
Large1 T A 8: 73,775,042 (GRCm39) M223L probably benign Het
Lrp1b T C 2: 40,760,413 (GRCm39) K2838E possibly damaging Het
Ncan T C 8: 70,561,221 (GRCm39) D582G probably benign Het
Nedd9 T C 13: 41,470,211 (GRCm39) D314G probably damaging Het
Nip7 T C 8: 107,784,825 (GRCm39) probably benign Het
Or10j27 T G 1: 172,957,901 (GRCm39) K294N probably damaging Het
Or52ae9 A T 7: 103,389,710 (GRCm39) C246S possibly damaging Het
Or7a42 C A 10: 78,791,773 (GRCm39) H245N probably damaging Het
P3h1 T C 4: 119,095,053 (GRCm39) probably benign Het
Pcp4l1 C T 1: 171,003,133 (GRCm39) probably benign Het
Plekhm2 C T 4: 141,369,330 (GRCm39) G118D probably benign Het
Prkg1 T C 19: 30,602,134 (GRCm39) D374G possibly damaging Het
Ptcd1 A G 5: 145,091,497 (GRCm39) L534P possibly damaging Het
Rnf123 A G 9: 107,943,547 (GRCm39) S563P probably damaging Het
Scart1 A G 7: 139,800,491 (GRCm39) M91V probably benign Het
Sdk2 A T 11: 113,759,747 (GRCm39) I418N possibly damaging Het
Slc26a4 A G 12: 31,578,688 (GRCm39) I655T possibly damaging Het
Syne1 T C 10: 4,993,618 (GRCm39) K524R probably damaging Het
Tanc1 G T 2: 59,663,602 (GRCm39) G1120C probably damaging Het
Tenm3 A C 8: 48,751,991 (GRCm39) W942G probably damaging Het
Thsd7b G A 1: 130,092,840 (GRCm39) V1247I probably benign Het
Treml1 A G 17: 48,667,459 (GRCm39) T115A possibly damaging Het
Ttn T C 2: 76,540,306 (GRCm39) T34227A probably benign Het
Ugt2b38 T A 5: 87,571,342 (GRCm39) D230V probably benign Het
Vmn1r203 G A 13: 22,709,074 (GRCm39) G285D probably damaging Het
Vmn2r76 A G 7: 85,879,356 (GRCm39) S315P probably benign Het
Vmn2r98 T G 17: 19,286,083 (GRCm39) S194A probably benign Het
Wdr1 G A 5: 38,703,165 (GRCm39) S137F probably damaging Het
Wnt7b C T 15: 85,443,097 (GRCm39) probably benign Het
Zfp668 A T 7: 127,467,494 (GRCm39) C27* probably null Het
Other mutations in Tbc1d22a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01022:Tbc1d22a APN 15 86,185,756 (GRCm39) missense probably damaging 1.00
IGL01483:Tbc1d22a APN 15 86,275,404 (GRCm39) missense probably benign 0.24
IGL02137:Tbc1d22a APN 15 86,183,870 (GRCm39) missense probably benign 0.02
R0138:Tbc1d22a UTSW 15 86,183,885 (GRCm39) missense probably damaging 1.00
R1168:Tbc1d22a UTSW 15 86,176,335 (GRCm39) missense probably benign 0.01
R1294:Tbc1d22a UTSW 15 86,381,027 (GRCm39) missense probably damaging 0.98
R1565:Tbc1d22a UTSW 15 86,119,770 (GRCm39) missense possibly damaging 0.48
R1586:Tbc1d22a UTSW 15 86,235,852 (GRCm39) splice site probably null
R1703:Tbc1d22a UTSW 15 86,123,416 (GRCm39) missense probably benign 0.09
R1822:Tbc1d22a UTSW 15 86,119,770 (GRCm39) missense possibly damaging 0.48
R1823:Tbc1d22a UTSW 15 86,119,770 (GRCm39) missense possibly damaging 0.48
R1824:Tbc1d22a UTSW 15 86,119,770 (GRCm39) missense possibly damaging 0.48
R1925:Tbc1d22a UTSW 15 86,123,350 (GRCm39) missense probably damaging 1.00
R2014:Tbc1d22a UTSW 15 86,183,885 (GRCm39) missense probably damaging 0.99
R2015:Tbc1d22a UTSW 15 86,183,885 (GRCm39) missense probably damaging 0.99
R2035:Tbc1d22a UTSW 15 86,275,266 (GRCm39) splice site probably null
R4380:Tbc1d22a UTSW 15 86,235,935 (GRCm39) missense probably damaging 1.00
R4616:Tbc1d22a UTSW 15 86,119,886 (GRCm39) missense probably damaging 1.00
R4690:Tbc1d22a UTSW 15 86,196,037 (GRCm39) missense probably damaging 1.00
R4825:Tbc1d22a UTSW 15 86,235,935 (GRCm39) missense probably damaging 1.00
R4883:Tbc1d22a UTSW 15 86,381,117 (GRCm39) missense possibly damaging 0.91
R4920:Tbc1d22a UTSW 15 86,195,949 (GRCm39) missense probably benign 0.20
R4979:Tbc1d22a UTSW 15 86,275,287 (GRCm39) missense probably damaging 1.00
R5913:Tbc1d22a UTSW 15 86,235,929 (GRCm39) missense probably damaging 0.98
R5916:Tbc1d22a UTSW 15 86,098,809 (GRCm39) missense possibly damaging 0.57
R6360:Tbc1d22a UTSW 15 86,098,830 (GRCm39) missense probably damaging 1.00
R6483:Tbc1d22a UTSW 15 86,185,768 (GRCm39) missense possibly damaging 0.48
R7138:Tbc1d22a UTSW 15 86,123,356 (GRCm39) missense probably benign 0.07
R7294:Tbc1d22a UTSW 15 86,196,036 (GRCm39) missense possibly damaging 0.90
R7645:Tbc1d22a UTSW 15 86,119,742 (GRCm39) missense probably benign 0.01
R7704:Tbc1d22a UTSW 15 86,250,876 (GRCm39) missense probably damaging 1.00
R9204:Tbc1d22a UTSW 15 86,098,803 (GRCm39) missense probably benign 0.15
R9370:Tbc1d22a UTSW 15 86,123,441 (GRCm39) missense probably benign 0.00
R9459:Tbc1d22a UTSW 15 86,120,021 (GRCm39) missense possibly damaging 0.57
R9792:Tbc1d22a UTSW 15 86,119,839 (GRCm39) missense probably damaging 0.99
R9793:Tbc1d22a UTSW 15 86,119,839 (GRCm39) missense probably damaging 0.99
RF013:Tbc1d22a UTSW 15 86,183,975 (GRCm39) frame shift probably null
Posted On 2015-04-16