Incidental Mutation 'IGL02014:Tbc1d2'
ID 183447
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d2
Ensembl Gene ENSMUSG00000039813
Gene Name TBC1 domain family, member 2
Synonyms PARIS-1, LOC381605, PARIS1, A630005A06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # IGL02014
Quality Score
Status
Chromosome 4
Chromosomal Location 46604390-46650209 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46649778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 86 (N86S)
Ref Sequence ENSEMBL: ENSMUSP00000103379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084621] [ENSMUST00000107750]
AlphaFold B1AVH7
Predicted Effect possibly damaging
Transcript: ENSMUST00000084621
AA Change: N86S

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: N86S

DomainStartEndE-ValueType
PH 44 143 1.94e-11 SMART
low complexity region 147 159 N/A INTRINSIC
low complexity region 165 180 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
coiled coil region 302 333 N/A INTRINSIC
coiled coil region 362 394 N/A INTRINSIC
low complexity region 398 410 N/A INTRINSIC
Blast:TBC 454 491 3e-14 BLAST
low complexity region 526 539 N/A INTRINSIC
Blast:TBC 557 591 3e-10 BLAST
TBC 616 834 1.63e-60 SMART
coiled coil region 869 906 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107750
AA Change: N86S

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103379
Gene: ENSMUSG00000039813
AA Change: N86S

DomainStartEndE-ValueType
PH 44 143 1.94e-11 SMART
low complexity region 147 159 N/A INTRINSIC
low complexity region 165 180 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
low complexity region 220 231 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd44 C T 1: 54,696,779 (GRCm39) G654S possibly damaging Het
Ark2c A T 18: 77,556,055 (GRCm39) V167E probably damaging Het
Arl14ep C T 2: 106,797,458 (GRCm39) A180T probably benign Het
Btbd9 A C 17: 30,736,124 (GRCm39) S330A probably damaging Het
Cep78 T C 19: 15,962,102 (GRCm39) D48G probably damaging Het
Col4a4 C T 1: 82,501,681 (GRCm39) probably benign Het
Ctdsp1 C T 1: 74,433,175 (GRCm39) probably benign Het
Gapvd1 G A 2: 34,594,203 (GRCm39) P949L probably damaging Het
Gas6 T C 8: 13,518,359 (GRCm39) T492A possibly damaging Het
Igbp1b A T 6: 138,634,601 (GRCm39) V281D probably benign Het
Mapk8ip3 G A 17: 25,122,254 (GRCm39) probably benign Het
Met T C 6: 17,527,256 (GRCm39) probably benign Het
Mmachc A G 4: 116,560,907 (GRCm39) F196S probably damaging Het
Or52z13 T A 7: 103,246,937 (GRCm39) I138N probably damaging Het
Pah A T 10: 87,417,789 (GRCm39) T427S probably benign Het
Pcdh7 C A 5: 57,877,045 (GRCm39) P200Q probably benign Het
Pde3a C A 6: 141,404,870 (GRCm39) P365Q probably null Het
Pkm A G 9: 59,576,244 (GRCm39) T143A possibly damaging Het
Plppr4 A G 3: 117,129,222 (GRCm39) S82P probably damaging Het
Ryr3 T C 2: 112,777,260 (GRCm39) E299G possibly damaging Het
Sdk2 G A 11: 113,729,320 (GRCm39) P1086S probably damaging Het
Spats1 G A 17: 45,772,166 (GRCm39) R81C probably benign Het
Spmap2l T A 5: 77,195,002 (GRCm39) F59I probably damaging Het
Vezt T A 10: 93,832,811 (GRCm39) Y10F probably benign Het
Vmn1r174 C A 7: 23,453,583 (GRCm39) P83H probably damaging Het
Vmn1r218 C T 13: 23,321,001 (GRCm39) T36I probably damaging Het
Zmym4 A T 4: 126,794,462 (GRCm39) N889K possibly damaging Het
Other mutations in Tbc1d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00714:Tbc1d2 APN 4 46,649,745 (GRCm39) missense probably benign 0.04
IGL01748:Tbc1d2 APN 4 46,616,306 (GRCm39) missense probably damaging 0.99
IGL01863:Tbc1d2 APN 4 46,607,064 (GRCm39) missense possibly damaging 0.66
IGL02025:Tbc1d2 APN 4 46,620,713 (GRCm39) missense probably damaging 1.00
IGL02551:Tbc1d2 APN 4 46,649,916 (GRCm39) missense probably benign
IGL02571:Tbc1d2 APN 4 46,628,370 (GRCm39) missense probably benign 0.00
IGL03149:Tbc1d2 APN 4 46,637,619 (GRCm39) missense probably benign 0.31
R0347:Tbc1d2 UTSW 4 46,620,574 (GRCm39) missense possibly damaging 0.82
R0374:Tbc1d2 UTSW 4 46,649,913 (GRCm39) missense possibly damaging 0.95
R0522:Tbc1d2 UTSW 4 46,649,806 (GRCm39) missense probably damaging 1.00
R0883:Tbc1d2 UTSW 4 46,609,003 (GRCm39) nonsense probably null
R1227:Tbc1d2 UTSW 4 46,620,629 (GRCm39) missense probably benign 0.00
R1464:Tbc1d2 UTSW 4 46,606,491 (GRCm39) missense possibly damaging 0.51
R1464:Tbc1d2 UTSW 4 46,606,491 (GRCm39) missense possibly damaging 0.51
R1658:Tbc1d2 UTSW 4 46,614,207 (GRCm39) missense probably damaging 1.00
R1959:Tbc1d2 UTSW 4 46,606,419 (GRCm39) missense probably benign 0.44
R2108:Tbc1d2 UTSW 4 46,637,652 (GRCm39) missense possibly damaging 0.62
R3864:Tbc1d2 UTSW 4 46,620,484 (GRCm39) missense probably benign 0.01
R4475:Tbc1d2 UTSW 4 46,609,080 (GRCm39) missense possibly damaging 0.92
R5112:Tbc1d2 UTSW 4 46,606,503 (GRCm39) missense probably damaging 1.00
R5127:Tbc1d2 UTSW 4 46,633,639 (GRCm39) intron probably benign
R5215:Tbc1d2 UTSW 4 46,614,006 (GRCm39) missense probably benign 0.42
R5475:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5550:Tbc1d2 UTSW 4 46,646,138 (GRCm39) missense probably benign 0.00
R5558:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5564:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5599:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5600:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5699:Tbc1d2 UTSW 4 46,616,298 (GRCm39) missense probably benign 0.31
R5866:Tbc1d2 UTSW 4 46,637,715 (GRCm39) missense possibly damaging 0.80
R5909:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5911:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5980:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6194:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6195:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6209:Tbc1d2 UTSW 4 46,614,068 (GRCm39) missense probably damaging 1.00
R6211:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6232:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6242:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6261:Tbc1d2 UTSW 4 46,637,692 (GRCm39) missense possibly damaging 0.47
R6273:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6274:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6285:Tbc1d2 UTSW 4 46,615,045 (GRCm39) missense possibly damaging 0.49
R6333:Tbc1d2 UTSW 4 46,620,736 (GRCm39) missense possibly damaging 0.64
R6369:Tbc1d2 UTSW 4 46,614,420 (GRCm39) missense probably benign 0.41
R6912:Tbc1d2 UTSW 4 46,649,712 (GRCm39) missense probably damaging 1.00
R7428:Tbc1d2 UTSW 4 46,649,965 (GRCm39) missense probably benign 0.02
R7775:Tbc1d2 UTSW 4 46,637,746 (GRCm39) splice site probably null
R7824:Tbc1d2 UTSW 4 46,637,746 (GRCm39) splice site probably null
R8069:Tbc1d2 UTSW 4 46,649,737 (GRCm39) missense possibly damaging 0.81
R8135:Tbc1d2 UTSW 4 46,609,071 (GRCm39) missense probably benign 0.31
R8203:Tbc1d2 UTSW 4 46,606,476 (GRCm39) missense probably damaging 1.00
R8271:Tbc1d2 UTSW 4 46,649,791 (GRCm39) missense possibly damaging 0.88
R8690:Tbc1d2 UTSW 4 46,615,106 (GRCm39) missense possibly damaging 0.95
R9025:Tbc1d2 UTSW 4 46,607,062 (GRCm39) missense probably damaging 1.00
R9236:Tbc1d2 UTSW 4 46,609,029 (GRCm39) missense probably benign 0.08
R9622:Tbc1d2 UTSW 4 46,609,065 (GRCm39) missense probably damaging 1.00
R9776:Tbc1d2 UTSW 4 46,650,007 (GRCm39) missense probably benign 0.00
X0023:Tbc1d2 UTSW 4 46,615,037 (GRCm39) missense probably benign 0.00
X0063:Tbc1d2 UTSW 4 46,606,492 (GRCm39) missense probably damaging 1.00
Z1177:Tbc1d2 UTSW 4 46,650,016 (GRCm39) missense probably benign
Posted On 2014-05-07