Incidental Mutation 'R5704:Ttc16'
ID 451820
Institutional Source Beutler Lab
Gene Symbol Ttc16
Ensembl Gene ENSMUSG00000039021
Gene Name tetratricopeptide repeat domain 16
Synonyms 1200002K10Rik
MMRRC Submission 043329-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R5704 (G1)
Quality Score 218
Status Validated
Chromosome 2
Chromosomal Location 32647038-32665645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 32659137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glutamine at position 321 (E321Q)
Ref Sequence ENSEMBL: ENSMUSP00000123927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066478] [ENSMUST00000091059] [ENSMUST00000125891] [ENSMUST00000161089] [ENSMUST00000161430] [ENSMUST00000161950]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000066478
AA Change: E321Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021
AA Change: E321Q

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 damaging
Transcript: ENSMUST00000091059
AA Change: E378Q

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021
AA Change: E378Q

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 noncoding transcript
Transcript: ENSMUST00000123674
Predicted Effect probably benign
Transcript: ENSMUST00000125891
Predicted Effect possibly damaging
Transcript: ENSMUST00000161089
AA Change: E321Q

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021
AA Change: E321Q

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 damaging
Transcript: ENSMUST00000161430
AA Change: E378Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021
AA Change: E378Q

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 probably damaging
Transcript: ENSMUST00000161950
AA Change: E321Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021
AA Change: E321Q

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
Meta Mutation Damage Score 0.3857 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (85/87)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 G A 5: 105,116,036 (GRCm39) A266V probably damaging Het
Acad10 A G 5: 121,769,606 (GRCm39) S617P probably benign Het
Ahi1 A C 10: 20,950,326 (GRCm39) M126L probably benign Het
Alk T C 17: 72,910,115 (GRCm39) E197G probably damaging Het
Alyref2 A T 1: 171,331,547 (GRCm39) Y108F probably damaging Het
Ankrd26 T G 6: 118,500,843 (GRCm39) H876P probably damaging Het
Arfgef1 T C 1: 10,229,808 (GRCm39) T1298A probably damaging Het
Arhgap33 T A 7: 30,219,045 (GRCm39) probably benign Het
Arhgef17 A G 7: 100,530,548 (GRCm39) S1413P probably damaging Het
Arid1a A T 4: 133,409,050 (GRCm39) V1819E unknown Het
Asprv1 A G 6: 86,605,532 (GRCm39) N126S probably damaging Het
Atg16l2 T C 7: 100,949,418 (GRCm39) Y43C probably damaging Het
Atp13a3 G T 16: 30,140,697 (GRCm39) T1160K probably benign Het
Atp1a3 T C 7: 24,696,736 (GRCm39) T272A probably damaging Het
Bpifa3 G T 2: 153,979,562 (GRCm39) probably null Het
Bri3 T C 5: 144,192,716 (GRCm39) V80A probably damaging Het
Ccdc28a T A 10: 18,106,320 (GRCm39) E2V probably damaging Het
Ccdc7a T A 8: 129,706,577 (GRCm39) probably benign Het
Cds2 G A 2: 132,135,249 (GRCm39) V47I probably benign Het
Cela2a G A 4: 141,553,299 (GRCm39) probably benign Het
Ckap5 A G 2: 91,406,548 (GRCm39) Y783C probably damaging Het
Cmtr1 G C 17: 29,882,217 (GRCm39) A23P possibly damaging Het
Crym C A 7: 119,801,163 (GRCm39) probably null Het
Def6 T G 17: 28,447,200 (GRCm39) D610E probably benign Het
Dnajc15 T C 14: 78,063,898 (GRCm39) Y130C probably damaging Het
Dock8 G A 19: 25,151,586 (GRCm39) V1560I probably damaging Het
Eif4g3 T C 4: 137,918,003 (GRCm39) V1501A probably damaging Het
Esyt1 A G 10: 128,347,379 (GRCm39) S1049P probably damaging Het
Gm4952 G T 19: 12,604,275 (GRCm39) R229L probably damaging Het
Golga5 T A 12: 102,455,707 (GRCm39) H548Q probably benign Het
Gspt1 A T 16: 11,046,057 (GRCm39) D449E possibly damaging Het
Gtf3c2 T A 5: 31,316,454 (GRCm39) D732V probably damaging Het
Hax1 T A 3: 89,903,403 (GRCm39) Q168L probably damaging Het
Hectd2 T A 19: 36,576,291 (GRCm39) S91T possibly damaging Het
Igfbp2 T A 1: 72,891,303 (GRCm39) H300Q probably benign Het
Il12rb2 T C 6: 67,269,197 (GRCm39) N538S possibly damaging Het
Insr G A 8: 3,235,122 (GRCm39) P124L possibly damaging Het
Irak3 C A 10: 119,981,594 (GRCm39) R437L probably benign Het
Jhy C T 9: 40,808,734 (GRCm39) V676I probably damaging Het
Kcns3 G A 12: 11,142,328 (GRCm39) R124C probably benign Het
Lactb G A 9: 66,863,058 (GRCm39) R519* probably null Het
Mdfic G A 6: 15,770,291 (GRCm39) G94D probably damaging Het
Mospd3 A G 5: 137,598,613 (GRCm39) V42A possibly damaging Het
Mov10 A G 3: 104,706,912 (GRCm39) V666A probably benign Het
Mucl1 T C 15: 103,785,663 (GRCm39) I15V probably benign Het
Mug1 T A 6: 121,828,392 (GRCm39) V268D possibly damaging Het
Myo5c T A 9: 75,180,185 (GRCm39) S709T probably benign Het
Nol11 T A 11: 107,064,195 (GRCm39) E519V probably benign Het
Nrp2 A T 1: 62,824,267 (GRCm39) I791L probably benign Het
Nudt19 A G 7: 35,250,972 (GRCm39) Y256H probably benign Het
Nudt8 C T 19: 4,050,777 (GRCm39) R42C probably damaging Het
Or5ac16 A G 16: 59,022,369 (GRCm39) L140P probably damaging Het
Or6c213 T A 10: 129,574,685 (GRCm39) I34F probably benign Het
Pcdhga12 A G 18: 37,900,422 (GRCm39) Y418C probably damaging Het
Pds5a A G 5: 65,784,422 (GRCm39) probably null Het
Pdzd2 T C 15: 12,385,761 (GRCm39) D1003G probably benign Het
Pglyrp4 T A 3: 90,647,581 (GRCm39) probably null Het
Phip T C 9: 82,753,408 (GRCm39) N1779D probably damaging Het
Postn G T 3: 54,279,527 (GRCm39) C335F probably damaging Het
Ppp4r3a T C 12: 101,049,619 (GRCm39) probably benign Het
Prrt2 C T 7: 126,618,590 (GRCm39) V292M probably damaging Het
Rpl18 T C 7: 45,370,146 (GRCm39) V138A possibly damaging Het
Rps14 G A 18: 60,910,205 (GRCm39) probably benign Het
Sbno1 A G 5: 124,533,956 (GRCm39) probably null Het
Siah2 T G 3: 58,583,821 (GRCm39) K155T probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc25a39 T A 11: 102,294,220 (GRCm39) probably benign Het
Slco1a7 T C 6: 141,658,980 (GRCm39) M539V probably benign Het
Smok2b T A 17: 13,455,231 (GRCm39) C464S probably damaging Het
Spata31 G A 13: 65,069,855 (GRCm39) V668I probably benign Het
Tbxas1 C A 6: 38,998,067 (GRCm39) H212N probably benign Het
Tenm1 A G X: 42,163,572 (GRCm39) V107A possibly damaging Het
Thada C T 17: 84,538,329 (GRCm39) A1560T probably benign Het
Tmem241 G C 18: 12,197,263 (GRCm39) F65L probably damaging Het
Ttn A T 2: 76,748,929 (GRCm39) L4040H possibly damaging Het
Tyw1 G A 5: 130,310,863 (GRCm39) W437* probably null Het
Unc79 T A 12: 102,968,202 (GRCm39) Y143N probably damaging Het
Urb2 C T 8: 124,764,921 (GRCm39) R1310W probably damaging Het
Vmn2r4 T C 3: 64,317,370 (GRCm39) I34V probably benign Het
Zfp513 C T 5: 31,358,010 (GRCm39) C121Y possibly damaging Het
Zfp606 T G 7: 12,227,456 (GRCm39) W468G probably damaging Het
Zfyve16 C T 13: 92,640,979 (GRCm39) probably null 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
IGL03143:Ttc16 APN 2 32,664,457 (GRCm39) missense possibly damaging 0.86
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
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
Predicted Primers PCR Primer
(F):5'- AGTTGGCTCCTTCATCCAGC -3'
(R):5'- ACTTCCTGAAGGCAATGGACATG -3'

Sequencing Primer
(F):5'- TTGTAGTCAGCCTCCGCGAAG -3'
(R):5'- GCAATGGACATGGTGACTGAC -3'
Posted On 2017-01-03