Incidental Mutation 'R3835:Ttc16'
ID 275570
Institutional Source Beutler Lab
Gene Symbol Ttc16
Ensembl Gene ENSMUSG00000039021
Gene Name tetratricopeptide repeat domain 16
Synonyms 1200002K10Rik
MMRRC Submission 040890-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R3835 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 32647038-32665645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32659322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 259 (D259G)
Ref Sequence ENSEMBL: ENSMUSP00000124915 (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: D259G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021
AA Change: D259G

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: ENSMUST00000091059
AA Change: D316G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021
AA Change: D316G

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 probably damaging
Transcript: ENSMUST00000161089
AA Change: D259G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021
AA Change: D259G

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: D316G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021
AA Change: D316G

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: D259G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021
AA Change: D259G

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 0.2134 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T C 3: 151,216,254 (GRCm39) I479T probably damaging Het
Adh6a G A 3: 138,033,275 (GRCm39) probably null Het
Anapc7 A G 5: 122,581,940 (GRCm39) T528A possibly damaging Het
Ap5b1 A G 19: 5,618,918 (GRCm39) T113A possibly damaging Het
Apaf1 G A 10: 90,895,449 (GRCm39) R439C probably benign Het
Apoa5 A T 9: 46,181,878 (GRCm39) H318L probably damaging Het
Bltp2 A G 11: 78,169,911 (GRCm39) R1545G probably benign Het
Btnl9 T G 11: 49,071,512 (GRCm39) T104P probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Dennd5a T C 7: 109,533,449 (GRCm39) K107R probably benign Het
Dthd1 A T 5: 63,007,128 (GRCm39) R610W probably damaging Het
Eno1 T C 4: 150,331,119 (GRCm39) S186P probably benign Het
Gipc2 C A 3: 151,833,823 (GRCm39) V153F probably damaging Het
Gpt A G 15: 76,582,783 (GRCm39) Y295C probably damaging Het
Kcnh5 T A 12: 74,945,044 (GRCm39) Q735L probably benign Het
Lrrc10 A G 10: 116,881,691 (GRCm39) N122D possibly damaging Het
Lrrc37 C A 11: 103,510,836 (GRCm39) L377F unknown Het
Meis2 T C 2: 115,752,228 (GRCm39) H301R probably damaging Het
Muc5b A T 7: 141,412,918 (GRCm39) I1955F unknown Het
Nalcn A T 14: 123,530,834 (GRCm39) probably benign Het
Nmt2 T C 2: 3,315,723 (GRCm39) probably benign Het
Nnt C T 13: 119,509,031 (GRCm39) G403R probably damaging Het
Or4a79 T G 2: 89,551,799 (GRCm39) I219L possibly damaging Het
Or4d6 T A 19: 12,086,764 (GRCm39) I49F possibly damaging Het
Or5b109 A T 19: 13,212,103 (GRCm39) D163V probably benign Het
Ovgp1 A G 3: 105,893,631 (GRCm39) E468G probably benign Het
Pax6 G A 2: 105,526,795 (GRCm39) E234K probably benign Het
Prkdc A G 16: 15,609,810 (GRCm39) E3138G probably damaging Het
Prmt6 T C 3: 110,158,121 (GRCm39) D56G possibly damaging Het
Ptprt A G 2: 161,389,307 (GRCm39) V1261A probably damaging Het
Qtrt2 A G 16: 43,701,435 (GRCm39) S42P probably damaging Het
Rab9b C T X: 135,762,259 (GRCm39) R47Q possibly damaging Het
Rpgrip1 A G 14: 52,384,710 (GRCm39) E606G probably damaging Het
Setx C T 2: 29,035,072 (GRCm39) S519L possibly damaging Het
Slc15a2 A T 16: 36,592,490 (GRCm39) C191* probably null Het
Snrk T C 9: 121,966,069 (GRCm39) probably benign Het
St6galnac1 T C 11: 116,657,109 (GRCm39) D422G probably damaging Het
Stag1 C T 9: 100,620,035 (GRCm39) T46I probably damaging Het
Tagln T C 9: 45,843,008 (GRCm39) I18V probably benign Het
Tasor2 T C 13: 3,625,292 (GRCm39) T1553A probably benign Het
Tbx18 C A 9: 87,611,689 (GRCm39) A114S probably benign Het
Vldlr A G 19: 27,212,214 (GRCm39) D76G probably damaging Het
Vmn2r24 G T 6: 123,764,412 (GRCm39) D430Y probably benign Het
Xlr3a T C X: 72,138,644 (GRCm39) E5G probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GTTGATGTACAAGCCCTTCTCATTC -3'
(R):5'- TAGCAATCTCAGGCCAGCTC -3'

Sequencing Primer
(F):5'- ATTCTGCTCGTCTCTGATAGC -3'
(R):5'- CTCCAGAGGACAGATCTAGGGTTTG -3'
Posted On 2015-04-06