Incidental Mutation 'IGL01022:Tbc1d22a'
ID54010
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? Non essential (E-score: 0.000) question?
Stock #IGL01022
Quality Score
Status
Chromosome15
Chromosomal Location86214459-86498503 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 86301555 bp
ZygosityHeterozygous
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]
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: 61,202,942 S927P probably benign Het
Arfgef1 G T 1: 10,174,076 F987L probably damaging Het
Asph A T 4: 9,601,344 N191K possibly damaging Het
Bmpr1b A T 3: 141,871,338 C71S probably damaging Het
Bod1l A T 5: 41,794,309 S2920T probably damaging Het
Camta2 G A 11: 70,671,482 R1030* probably null Het
Chd8 T C 14: 52,236,993 T194A probably benign Het
Col9a3 A T 2: 180,616,434 I549F probably damaging Het
Fstl4 A G 11: 53,186,741 N775S probably benign Het
Gm10800 T A 2: 98,667,231 probably benign Het
Gm5117 T A 8: 31,738,487 noncoding transcript Het
Hap1 A G 11: 100,349,548 L112P probably benign Het
Hcls1 C A 16: 36,951,126 probably benign Het
Kmt2c A G 5: 25,302,701 probably benign Het
Lct T A 1: 128,300,859 I966L probably benign Het
Myo1h A T 5: 114,336,300 I451F possibly damaging Het
Notch4 G A 17: 34,565,697 C128Y probably damaging Het
Oca2 T A 7: 56,324,756 N484K probably damaging Het
Olfr585 T G 7: 103,097,870 L43R probably damaging Het
Olfr8 A T 10: 78,955,354 I50F possibly damaging Het
Rprd2 T A 3: 95,763,754 R1362* probably null Het
Sema3a C T 5: 13,473,466 T134I probably damaging Het
Sfta2 C T 17: 35,650,444 T74I possibly damaging Het
Slfn10-ps C T 11: 83,035,527 noncoding transcript Het
Spag11a A T 8: 19,157,989 Q15H probably damaging Het
Tmbim6 G A 15: 99,402,122 V40M possibly damaging Het
Tmem259 A G 10: 79,983,974 V22A probably damaging Het
Tnik T C 3: 28,625,228 probably null Het
Unc13c T C 9: 73,517,328 D2002G probably benign Het
Other mutations in Tbc1d22a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Tbc1d22a APN 15 86391203 missense probably benign 0.24
IGL02137:Tbc1d22a APN 15 86299669 missense probably benign 0.02
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 probably benign 0.07
R7294:Tbc1d22a UTSW 15 86311835 missense possibly damaging 0.90
R7645:Tbc1d22a UTSW 15 86235541 missense probably benign 0.01
R7704:Tbc1d22a UTSW 15 86366675 missense probably damaging 1.00
RF013:Tbc1d22a UTSW 15 86299774 frame shift probably null
Posted On2013-06-28