Incidental Mutation 'IGL03143:Ttc16'
ID 410765
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc16
Ensembl Gene ENSMUSG00000039021
Gene Name tetratricopeptide repeat domain 16
Synonyms 1200002K10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL03143
Quality Score
Status
Chromosome 2
Chromosomal Location 32647038-32665645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32664457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 3 (D3G)
Ref Sequence ENSEMBL: ENSMUSP00000124915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066352] [ENSMUST00000066478] [ENSMUST00000091059] [ENSMUST00000102813] [ENSMUST00000125891] [ENSMUST00000161089] [ENSMUST00000161950] [ENSMUST00000161430] [ENSMUST00000161958]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000066352
SMART Domains Protein: ENSMUSP00000068850
Gene: ENSMUSG00000053746

DomainStartEndE-ValueType
Pfam:Pept_tRNA_hydro 22 200 6.3e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000066478
AA Change: D3G

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021
AA Change: D3G

DomainStartEndE-ValueType
TPR 18 51 2.26e-3 SMART
TPR 52 85 4.09e-1 SMART
TPR 93 126 8.3e-2 SMART
TPR 161 194 4.44e1 SMART
TPR 208 241 3.69e1 SMART
TPR 242 275 1.08e1 SMART
Blast:TPR 288 321 2e-10 BLAST
TPR 322 355 1.02e-1 SMART
TPR 363 396 7.27e0 SMART
Blast:TPR 397 430 2e-12 BLAST
low complexity region 539 554 N/A INTRINSIC
low complexity region 565 577 N/A INTRINSIC
low complexity region 629 640 N/A INTRINSIC
low complexity region 725 750 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091059
AA Change: D60G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021
AA Change: D60G

DomainStartEndE-ValueType
TPR 75 108 2.26e-3 SMART
TPR 109 142 4.09e-1 SMART
TPR 150 183 8.3e-2 SMART
TPR 218 251 4.44e1 SMART
TPR 265 298 3.69e1 SMART
TPR 299 332 1.08e1 SMART
Blast:TPR 345 378 2e-10 BLAST
TPR 379 412 1.02e-1 SMART
TPR 420 453 7.27e0 SMART
Blast:TPR 454 487 2e-12 BLAST
low complexity region 631 644 N/A INTRINSIC
low complexity region 666 679 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102813
SMART Domains Protein: ENSMUSP00000099877
Gene: ENSMUSG00000038987

DomainStartEndE-ValueType
coiled coil region 32 191 N/A INTRINSIC
coiled coil region 301 371 N/A INTRINSIC
low complexity region 402 416 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123674
Predicted Effect probably benign
Transcript: ENSMUST00000125891
AA Change: D44G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect possibly damaging
Transcript: ENSMUST00000161089
AA Change: D3G

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021
AA Change: D3G

DomainStartEndE-ValueType
TPR 18 51 2.26e-3 SMART
TPR 52 85 4.09e-1 SMART
TPR 93 126 8.3e-2 SMART
TPR 161 194 4.44e1 SMART
TPR 208 241 3.69e1 SMART
TPR 242 275 1.08e1 SMART
Blast:TPR 288 321 2e-10 BLAST
TPR 322 355 1.02e-1 SMART
TPR 363 396 7.27e0 SMART
Blast:TPR 397 430 2e-12 BLAST
low complexity region 539 554 N/A INTRINSIC
low complexity region 565 577 N/A INTRINSIC
low complexity region 629 640 N/A INTRINSIC
low complexity region 725 750 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000161950
AA Change: D3G

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021
AA Change: D3G

DomainStartEndE-ValueType
TPR 18 51 2.26e-3 SMART
TPR 52 85 4.09e-1 SMART
TPR 93 126 8.3e-2 SMART
TPR 161 194 4.44e1 SMART
TPR 208 241 3.69e1 SMART
TPR 242 275 1.08e1 SMART
Blast:TPR 288 321 2e-10 BLAST
TPR 322 355 1.02e-1 SMART
TPR 363 396 7.27e0 SMART
Blast:TPR 397 430 2e-12 BLAST
low complexity region 539 554 N/A INTRINSIC
low complexity region 565 577 N/A INTRINSIC
low complexity region 629 640 N/A INTRINSIC
low complexity region 725 750 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161430
AA Change: D60G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021
AA Change: D60G

DomainStartEndE-ValueType
TPR 75 108 2.26e-3 SMART
TPR 109 142 4.09e-1 SMART
TPR 150 183 8.3e-2 SMART
TPR 218 251 4.44e1 SMART
TPR 265 298 3.69e1 SMART
TPR 299 332 1.08e1 SMART
Blast:TPR 345 378 2e-10 BLAST
TPR 379 412 1.02e-1 SMART
TPR 420 453 7.27e0 SMART
Blast:TPR 454 487 2e-12 BLAST
low complexity region 596 611 N/A INTRINSIC
low complexity region 622 634 N/A INTRINSIC
low complexity region 686 697 N/A INTRINSIC
low complexity region 782 807 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138214
Predicted Effect probably benign
Transcript: ENSMUST00000161958
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 T G 9: 121,738,333 (GRCm39) L236R probably damaging Het
Agbl1 C T 7: 76,069,793 (GRCm39) Q442* probably null Het
Ahrr G A 13: 74,405,614 (GRCm39) Q108* probably null Het
Ankrd23 T C 1: 36,570,726 (GRCm39) probably benign Het
Art5 A G 7: 101,747,104 (GRCm39) I225T probably damaging Het
Asxl3 T C 18: 22,656,031 (GRCm39) V1347A probably benign Het
Birc6 A G 17: 74,905,994 (GRCm39) M1326V possibly damaging Het
Bpifb6 A C 2: 153,744,655 (GRCm39) N32T probably damaging Het
Brip1 T A 11: 85,952,653 (GRCm39) T1043S possibly damaging Het
Cbx5 A T 15: 103,121,532 (GRCm39) V35E probably damaging Het
Ccdc175 T A 12: 72,182,832 (GRCm39) M396L probably benign Het
Ceacam3 G T 7: 16,892,045 (GRCm39) E263* probably null Het
Cyp4a12a A G 4: 115,159,200 (GRCm39) T157A probably benign Het
Dennd11 A T 6: 40,399,828 (GRCm39) probably benign Het
Derl3 T C 10: 75,730,324 (GRCm39) V129A possibly damaging Het
Dnajb1 T C 8: 84,335,103 (GRCm39) I48T probably damaging Het
Dop1b G A 16: 93,556,543 (GRCm39) E349K probably benign Het
Fkbp10 A T 11: 100,313,580 (GRCm39) I285F probably benign Het
Frrs1 A T 3: 116,692,836 (GRCm39) T37S probably damaging Het
Gata2 A G 6: 88,181,677 (GRCm39) Y377C probably damaging Het
Gm9789 T A 16: 88,954,883 (GRCm39) probably benign Het
Itpkb T A 1: 180,160,933 (GRCm39) V353D probably benign Het
Kcng4 T C 8: 120,352,509 (GRCm39) E467G probably damaging Het
Kdm3a A T 6: 71,573,845 (GRCm39) I906N probably damaging Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Lamc1 A T 1: 153,208,020 (GRCm39) L89Q probably benign Het
Lef1 G T 3: 130,993,965 (GRCm39) E314* probably null Het
Lpin3 T C 2: 160,745,518 (GRCm39) probably benign Het
Mrtfb A G 16: 13,218,676 (GRCm39) N452D possibly damaging Het
Naaladl1 C T 19: 6,164,896 (GRCm39) T628I possibly damaging Het
Nell1 C T 7: 49,929,281 (GRCm39) Q259* probably null Het
Neu2 G T 1: 87,524,698 (GRCm39) E228* probably null Het
Or5b119 A T 19: 13,456,835 (GRCm39) H242Q probably damaging Het
Or5k15 A G 16: 58,709,824 (GRCm39) F253S probably damaging Het
Or8g21 T G 9: 38,906,732 (GRCm39) probably benign Het
Or8k20 T C 2: 86,106,580 (GRCm39) N84D probably benign Het
Osbpl6 T A 2: 76,378,716 (GRCm39) D124E probably damaging Het
Palm T C 10: 79,652,617 (GRCm39) probably benign Het
Parp8 C A 13: 117,047,497 (GRCm39) probably benign Het
Pax7 A G 4: 139,556,798 (GRCm39) probably benign Het
Pcnx3 G A 19: 5,735,423 (GRCm39) R468W probably damaging Het
Pds5b T A 5: 150,702,722 (GRCm39) V818D probably damaging Het
Piezo2 C T 18: 63,241,147 (GRCm39) V694I probably damaging Het
Plk1 A G 7: 121,760,877 (GRCm39) probably benign Het
Polb T C 8: 23,130,367 (GRCm39) probably benign Het
Rad54b A G 4: 11,599,755 (GRCm39) T320A probably damaging Het
Reg3b G A 6: 78,349,183 (GRCm39) W103* probably null Het
Slc17a3 T G 13: 24,039,962 (GRCm39) probably null Het
Snrnp200 C T 2: 127,071,962 (GRCm39) probably benign Het
Stox2 T A 8: 47,646,839 (GRCm39) H207L possibly damaging Het
Tbx15 A C 3: 99,259,514 (GRCm39) M462L possibly damaging Het
Tcirg1 G A 19: 3,948,811 (GRCm39) T458I probably damaging Het
Tnfrsf25 A G 4: 152,201,384 (GRCm39) probably benign Het
Trank1 A G 9: 111,195,155 (GRCm39) K1060E probably damaging Het
Vmn1r199 A C 13: 22,567,299 (GRCm39) N155H probably damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Other mutations in Ttc16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Ttc16 APN 2 32,660,259 (GRCm39) missense probably damaging 1.00
IGL02931:Ttc16 APN 2 32,661,939 (GRCm39) missense probably damaging 1.00
IGL03206:Ttc16 APN 2 32,661,897 (GRCm39) splice site probably null
IGL03310:Ttc16 APN 2 32,652,409 (GRCm39) unclassified probably benign
P0033:Ttc16 UTSW 2 32,652,586 (GRCm39) missense probably benign 0.00
R0909:Ttc16 UTSW 2 32,652,880 (GRCm39) missense probably benign 0.08
R1085:Ttc16 UTSW 2 32,665,092 (GRCm39) missense possibly damaging 0.83
R1659:Ttc16 UTSW 2 32,652,547 (GRCm39) missense probably benign 0.15
R1752:Ttc16 UTSW 2 32,662,162 (GRCm39) missense probably damaging 0.96
R2408:Ttc16 UTSW 2 32,658,020 (GRCm39) missense probably benign 0.00
R3835:Ttc16 UTSW 2 32,659,322 (GRCm39) missense probably damaging 0.99
R4576:Ttc16 UTSW 2 32,660,071 (GRCm39) missense probably benign 0.02
R4590:Ttc16 UTSW 2 32,663,753 (GRCm39) missense probably damaging 1.00
R4630:Ttc16 UTSW 2 32,665,389 (GRCm39) start gained probably benign
R5081:Ttc16 UTSW 2 32,657,988 (GRCm39) missense probably damaging 1.00
R5128:Ttc16 UTSW 2 32,653,009 (GRCm39) missense probably benign 0.31
R5642:Ttc16 UTSW 2 32,665,348 (GRCm39) missense probably damaging 0.99
R5704:Ttc16 UTSW 2 32,659,137 (GRCm39) missense probably damaging 1.00
R6384:Ttc16 UTSW 2 32,657,561 (GRCm39) missense probably damaging 1.00
R6723:Ttc16 UTSW 2 32,658,049 (GRCm39) missense possibly damaging 0.66
R7103:Ttc16 UTSW 2 32,664,440 (GRCm39) missense probably benign 0.00
R7295:Ttc16 UTSW 2 32,664,437 (GRCm39) missense probably null 0.02
R7570:Ttc16 UTSW 2 32,658,980 (GRCm39) missense probably damaging 1.00
R7982:Ttc16 UTSW 2 32,665,047 (GRCm39) intron probably benign
R8074:Ttc16 UTSW 2 32,664,135 (GRCm39) unclassified probably benign
R9006:Ttc16 UTSW 2 32,652,985 (GRCm39) missense probably benign 0.33
R9131:Ttc16 UTSW 2 32,659,232 (GRCm39) missense probably damaging 1.00
R9183:Ttc16 UTSW 2 32,647,329 (GRCm39) missense probably benign 0.08
R9264:Ttc16 UTSW 2 32,653,017 (GRCm39) missense possibly damaging 0.87
R9322:Ttc16 UTSW 2 32,664,952 (GRCm39) intron probably benign
R9390:Ttc16 UTSW 2 32,657,195 (GRCm39) missense possibly damaging 0.78
R9789:Ttc16 UTSW 2 32,664,805 (GRCm39) critical splice donor site probably null
Z1088:Ttc16 UTSW 2 32,659,345 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02