Incidental Mutation 'R5128:Ttc16'
ID 394846
Institutional Source Beutler Lab
Gene Symbol Ttc16
Ensembl Gene ENSMUSG00000039021
Gene Name tetratricopeptide repeat domain 16
Synonyms 1200002K10Rik
MMRRC Submission 042716-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R5128 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 32647038-32665645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32653009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 550 (I550F)
Ref Sequence ENSEMBL: ENSMUSP00000123927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009707] [ENSMUST00000066478] [ENSMUST00000091059] [ENSMUST00000125891] [ENSMUST00000161950] [ENSMUST00000161089] [ENSMUST00000161430] [ENSMUST00000177382] [ENSMUST00000175763] [ENSMUST00000156617]
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: I550F

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021
AA Change: I550F

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 probably benign
Transcript: ENSMUST00000125891
Predicted Effect probably benign
Transcript: ENSMUST00000140999
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149720
Predicted Effect probably benign
Transcript: ENSMUST00000161950
AA Change: I550F

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021
AA Change: I550F

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: I550F

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021
AA Change: I550F

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: I607F

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021
AA Change: I607F

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: 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: ENSMUST00000175763
SMART Domains Protein: ENSMUSP00000135701
Gene: ENSMUSG00000009563

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156617
SMART Domains Protein: ENSMUSP00000122251
Gene: ENSMUSG00000009563

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,639,070 (GRCm39) S958P probably benign Het
Ahnak T C 19: 8,994,451 (GRCm39) L5245P probably damaging Het
Alg5 T A 3: 54,649,558 (GRCm39) probably null Het
Anapc1 A G 2: 128,501,837 (GRCm39) V735A probably benign Het
Arhgap45 A G 10: 79,866,793 (GRCm39) T1099A probably benign Het
Cacna1e A C 1: 154,277,767 (GRCm39) S2062A probably damaging Het
Chrna9 A G 5: 66,128,565 (GRCm39) S258G probably benign Het
Ctcfl T C 2: 172,959,189 (GRCm39) E179G probably benign Het
Dcdc2a C A 13: 25,286,512 (GRCm39) A145E probably damaging Het
Dgkz A G 2: 91,773,028 (GRCm39) I343T probably damaging Het
Dnah1 T C 14: 31,018,152 (GRCm39) probably null Het
Dqx1 T C 6: 83,037,548 (GRCm39) L374P probably damaging Het
Entpd5 A T 12: 84,441,464 (GRCm39) F101L probably benign Het
Esco1 A T 18: 10,567,468 (GRCm39) probably benign Het
Fgf1 C A 18: 38,975,078 (GRCm39) V124L probably benign Het
Gm16380 C T 9: 53,791,397 (GRCm39) noncoding transcript Het
Grid2 G A 6: 64,642,982 (GRCm39) A915T probably benign Het
Inhbc A T 10: 127,193,611 (GRCm39) M135K probably benign Het
Mertk C A 2: 128,580,167 (GRCm39) T207K probably damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
Mtmr10 C T 7: 63,983,187 (GRCm39) T498I probably damaging Het
Muc17 A G 5: 137,167,034 (GRCm39) probably null Het
Nlrp1c-ps G T 11: 71,170,421 (GRCm39) noncoding transcript Het
Nphp4 T A 4: 152,587,448 (GRCm39) I267N probably benign Het
Obox8 A G 7: 14,066,015 (GRCm39) W168R probably damaging Het
Or2t48 A T 11: 58,420,248 (GRCm39) V188E probably damaging Het
Or4a74 A T 2: 89,439,647 (GRCm39) D266E probably damaging Het
Or8c8 T C 9: 38,164,866 (GRCm39) L48P probably damaging Het
Pafah1b1 A G 11: 74,570,262 (GRCm39) probably benign Het
Palld T C 8: 62,173,622 (GRCm39) T346A probably damaging Het
Pip4k2b A G 11: 97,609,702 (GRCm39) S412P probably benign Het
Potefam1 G A 2: 110,994,674 (GRCm39) Q251* probably null Het
Scn3a T C 2: 65,338,862 (GRCm39) S606G probably benign Het
Slc12a7 G T 13: 73,953,552 (GRCm39) S754I probably benign Het
Tep1 A G 14: 51,081,736 (GRCm39) *489R probably null Het
Tnn A T 1: 159,950,464 (GRCm39) V714E probably damaging Het
Trappc9 A T 15: 72,930,242 (GRCm39) I38N probably damaging Het
Vit T C 17: 78,932,575 (GRCm39) S561P probably damaging Het
Zdhhc1 T A 8: 106,210,268 (GRCm39) I50F probably benign Het
Zfp451 C T 1: 33,842,014 (GRCm39) probably benign Het
Zfp597 G A 16: 3,689,988 (GRCm39) 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
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
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'- TTTGGAGTCCCTTTGGCCATAG -3'
(R):5'- CTCAGTACTGTTTGAGCAGCG -3'

Sequencing Primer
(F):5'- ACCTCAGTGGCGTTCTGGATTAG -3'
(R):5'- TGAGCAGCGTCTTGTCAC -3'
Posted On 2016-06-21