Incidental Mutation 'R1659:Ttc16'
ID 186570
Institutional Source Beutler Lab
Gene Symbol Ttc16
Ensembl Gene ENSMUSG00000039021
Gene Name tetratricopeptide repeat domain 16
Synonyms 1200002K10Rik
MMRRC Submission 039695-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R1659 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 32647038-32665645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32652547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 761 (D761N)
Ref Sequence ENSEMBL: ENSMUSP00000124031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009707] [ENSMUST00000066478] [ENSMUST00000091059] [ENSMUST00000125891] [ENSMUST00000161430] [ENSMUST00000161950] [ENSMUST00000161089] [ENSMUST00000177382] [ENSMUST00000156617] [ENSMUST00000175763]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000009707
SMART Domains Protein: ENSMUSP00000009707
Gene: ENSMUSG00000009563

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Torsin 35 160 1.2e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066478
AA Change: D704N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021
AA Change: D704N

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
SMART Domains Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021

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: ENSMUST00000123624
Predicted Effect probably benign
Transcript: ENSMUST00000125891
Predicted Effect probably benign
Transcript: ENSMUST00000140999
Predicted Effect probably benign
Transcript: ENSMUST00000161430
AA Change: D761N

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021
AA Change: D761N

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 benign
Transcript: ENSMUST00000161950
AA Change: D704N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021
AA Change: D704N

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: ENSMUST00000161089
AA Change: D704N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021
AA Change: D704N

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 noncoding transcript
Transcript: ENSMUST00000149720
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149987
Predicted Effect probably benign
Transcript: ENSMUST00000177382
SMART Domains Protein: ENSMUSP00000134968
Gene: ENSMUSG00000009563

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Torsin 35 101 1.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156617
SMART Domains Protein: ENSMUSP00000122251
Gene: ENSMUSG00000009563

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175763
SMART Domains Protein: ENSMUSP00000135701
Gene: ENSMUSG00000009563

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T A 5: 4,114,633 (GRCm39) L87Q probably damaging Het
Atp13a5 T G 16: 29,112,251 (GRCm39) D630A probably benign Het
Brd7 G T 8: 89,060,420 (GRCm39) P568T probably damaging Het
Ccdc141 A G 2: 76,885,027 (GRCm39) L538P probably benign Het
Cd177 G T 7: 24,445,562 (GRCm39) T627K probably damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdhr2 T A 13: 54,867,574 (GRCm39) I468N probably damaging Het
Cdk14 T C 5: 4,999,571 (GRCm39) T338A probably benign Het
Celsr2 G A 3: 108,321,411 (GRCm39) T467I probably benign Het
Chrd A G 16: 20,554,581 (GRCm39) E380G probably damaging Het
Cnnm4 C A 1: 36,511,246 (GRCm39) T158N probably benign Het
Ddx51 T A 5: 110,802,986 (GRCm39) I254N probably damaging Het
Deptor G A 15: 55,081,670 (GRCm39) probably null Het
Dnah11 T A 12: 118,084,459 (GRCm39) H1215L possibly damaging Het
Dock1 A G 7: 134,390,972 (GRCm39) Y744C probably damaging Het
Dok7 C T 5: 35,236,483 (GRCm39) T257I possibly damaging Het
Eif4g1 T C 16: 20,499,811 (GRCm39) Y591H probably damaging Het
Fat3 T C 9: 15,908,479 (GRCm39) T2508A possibly damaging Het
Gm266 A G 12: 111,451,723 (GRCm39) V161A probably damaging Het
Golgb1 A G 16: 36,707,979 (GRCm39) I107V probably benign Het
Gpnmb T C 6: 49,024,786 (GRCm39) F273L probably damaging Het
Hcn1 A T 13: 118,112,610 (GRCm39) Q858L probably damaging Het
Hcrtr1 G T 4: 130,029,129 (GRCm39) Y224* probably null Het
Hepacam A G 9: 37,291,954 (GRCm39) D94G probably benign Het
Herc2 T A 7: 55,784,853 (GRCm39) H1432Q probably benign Het
Il20 T A 1: 130,836,086 (GRCm39) probably null Het
Itga10 A G 3: 96,570,293 (GRCm39) T1150A probably damaging Het
Itgax C T 7: 127,730,063 (GRCm39) T73I probably benign Het
Kdm6b T A 11: 69,298,414 (GRCm39) Q98L possibly damaging Het
Lrrc7 A G 3: 157,867,045 (GRCm39) W899R probably damaging Het
Meikin C A 11: 54,281,392 (GRCm39) S154* probably null Het
Mrgprg A T 7: 143,318,288 (GRCm39) S275T possibly damaging Het
Mstn C T 1: 53,103,236 (GRCm39) R191* probably null Het
Neu3 A G 7: 99,462,640 (GRCm39) I361T probably damaging Het
Nrxn3 A G 12: 90,299,165 (GRCm39) D425G probably damaging Het
Nup205 T A 6: 35,211,723 (GRCm39) M1688K probably benign Het
Omg C T 11: 79,393,726 (GRCm39) C44Y possibly damaging Het
Or1d2 A T 11: 74,255,759 (GRCm39) Q88L probably benign Het
Or52n3 A G 7: 104,530,387 (GRCm39) M158V probably benign Het
Pcdh8 T C 14: 80,005,574 (GRCm39) D938G probably damaging Het
Pp2d1 T C 17: 53,822,406 (GRCm39) D220G possibly damaging Het
Prune2 C T 19: 17,098,015 (GRCm39) T1173I possibly damaging Het
Rbfox3 T C 11: 118,384,981 (GRCm39) T359A probably damaging Het
Rhpn2 A G 7: 35,076,466 (GRCm39) Y339C probably damaging Het
Rpl7a-ps3 A G 15: 36,308,309 (GRCm39) noncoding transcript Het
Sars1 T C 3: 108,336,732 (GRCm39) E217G probably damaging Het
Sec61a2 A G 2: 5,891,345 (GRCm39) F62S possibly damaging Het
Slc12a7 T A 13: 73,938,790 (GRCm39) I189N probably damaging Het
Slc5a10 G A 11: 61,567,070 (GRCm39) A375V possibly damaging Het
Srfbp1 C T 18: 52,621,967 (GRCm39) H343Y possibly damaging Het
Tbck T G 3: 132,440,116 (GRCm39) I486M probably damaging Het
Thra G A 11: 98,647,805 (GRCm39) A60T probably damaging Het
Thsd7a T A 6: 12,504,063 (GRCm39) T364S possibly damaging Het
Vwa7 T C 17: 35,238,047 (GRCm39) L216P probably benign Het
Ydjc T C 16: 16,965,703 (GRCm39) V156A possibly 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
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
Predicted Primers PCR Primer
(F):5'- TCATTGCTCAGGAAGGGCTTCATTG -3'
(R):5'- TGCTAAAGCCTCAGCTCTCAGTACC -3'

Sequencing Primer
(F):5'- TAGTTAATCGTCAGAGGTGAGC -3'
(R):5'- TGAGGTCACACCTGCCTATG -3'
Posted On 2014-05-09