Incidental Mutation 'IGL01022:Tbc1d22a'
ID 54010
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 # IGL01022
Quality Score
Status
Chromosome 15
Chromosomal Location 86098660-86382704 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86185756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 282 (D282N)
Ref Sequence ENSEMBL: ENSMUSP00000065721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063414]
AlphaFold Q8R5A6
Predicted Effect probably damaging
Transcript: ENSMUST00000063414
AA Change: D282N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065721
Gene: ENSMUSG00000051864
AA Change: D282N

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,038,721 (GRCm39) S927P probably benign Het
Arfgef1 G T 1: 10,244,301 (GRCm39) F987L probably damaging Het
Asph A T 4: 9,601,344 (GRCm39) N191K possibly damaging Het
Bmpr1b A T 3: 141,577,099 (GRCm39) C71S probably damaging Het
Bod1l A T 5: 41,951,652 (GRCm39) S2920T probably damaging Het
Camta2 G A 11: 70,562,308 (GRCm39) R1030* probably null Het
Chd8 T C 14: 52,474,450 (GRCm39) T194A probably benign Het
Col9a3 A T 2: 180,258,227 (GRCm39) I549F probably damaging Het
Fstl4 A G 11: 53,077,568 (GRCm39) N775S probably benign Het
Gm10800 T A 2: 98,497,576 (GRCm39) probably benign Het
Gm5117 T A 8: 32,228,515 (GRCm39) noncoding transcript Het
Hap1 A G 11: 100,240,374 (GRCm39) L112P probably benign Het
Hcls1 C A 16: 36,771,488 (GRCm39) probably benign Het
Kmt2c A G 5: 25,507,699 (GRCm39) probably benign Het
Lct T A 1: 128,228,596 (GRCm39) I966L probably benign Het
Myo1h A T 5: 114,474,361 (GRCm39) I451F possibly damaging Het
Notch4 G A 17: 34,784,671 (GRCm39) C128Y probably damaging Het
Oca2 T A 7: 55,974,504 (GRCm39) N484K probably damaging Het
Or51f1e T G 7: 102,747,077 (GRCm39) L43R probably damaging Het
Or7a42 A T 10: 78,791,188 (GRCm39) I50F possibly damaging Het
Rprd2 T A 3: 95,671,066 (GRCm39) R1362* probably null Het
Sema3a C T 5: 13,523,433 (GRCm39) T134I probably damaging Het
Sfta2 C T 17: 35,961,336 (GRCm39) T74I possibly damaging Het
Slfn10-ps C T 11: 82,926,353 (GRCm39) noncoding transcript Het
Spag11a A T 8: 19,208,005 (GRCm39) Q15H probably damaging Het
Tmbim6 G A 15: 99,300,003 (GRCm39) V40M possibly damaging Het
Tmem259 A G 10: 79,819,808 (GRCm39) V22A probably damaging Het
Tnik T C 3: 28,679,377 (GRCm39) probably null Het
Unc13c T C 9: 73,424,610 (GRCm39) D2002G probably benign Het
Other mutations in Tbc1d22a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02543:Tbc1d22a APN 15 86,123,372 (GRCm39) missense probably benign 0.30
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 2013-06-28