Incidental Mutation 'R4590:Ttc16'
ID 342727
Institutional Source Beutler Lab
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 # R4590 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 32647038-32665645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32663753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 74 (N74I)
Ref Sequence ENSEMBL: ENSMUSP00000123927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066352] [ENSMUST00000066478] [ENSMUST00000091059] [ENSMUST00000102813] [ENSMUST00000125891] [ENSMUST00000161430] [ENSMUST00000161089] [ENSMUST00000161950] [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 probably damaging
Transcript: ENSMUST00000066478
AA Change: N74I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021
AA Change: N74I

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: N131I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021
AA Change: N131I

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
Predicted Effect probably damaging
Transcript: ENSMUST00000161430
AA Change: N131I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021
AA Change: N131I

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: ENSMUST00000161089
AA Change: N74I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021
AA Change: N74I

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: ENSMUST00000161950
AA Change: N74I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021
AA Change: N74I

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: ENSMUST00000150918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192262
Predicted Effect probably benign
Transcript: ENSMUST00000161958
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 T A 18: 36,716,697 (GRCm39) D201E probably damaging Het
Ano10 T A 9: 122,086,231 (GRCm39) Q398L probably benign Het
Ap3d1 A T 10: 80,555,646 (GRCm39) L319* probably null Het
Cacna1e T C 1: 154,312,265 (GRCm39) M1575V possibly damaging Het
Cep192 T A 18: 67,949,862 (GRCm39) Y315* probably null Het
Cndp2 C A 18: 84,687,933 (GRCm39) V353F probably damaging Het
Ctsq T A 13: 61,184,028 (GRCm39) N298I probably benign Het
Dnah6 A T 6: 73,129,695 (GRCm39) C1173S probably damaging Het
Dnah9 T C 11: 65,931,218 (GRCm39) M1993V probably damaging Het
Dnhd1 T C 7: 105,363,237 (GRCm39) V3933A probably damaging Het
Dnpep C A 1: 75,293,045 (GRCm39) V76L probably damaging Het
Dsc3 A C 18: 20,122,752 (GRCm39) C57W probably damaging Het
Dtx3 A G 10: 127,028,564 (GRCm39) S222P probably damaging Het
Eml5 T C 12: 98,803,600 (GRCm39) Y1009C possibly damaging Het
Fam169a A G 13: 97,234,093 (GRCm39) I122V probably benign Het
Fgr T A 4: 132,722,364 (GRCm39) V211E probably damaging Het
Flvcr1 T C 1: 190,744,343 (GRCm39) T402A probably benign Het
Frmd5 C T 2: 121,595,512 (GRCm39) probably null Het
Fut2 T C 7: 45,300,370 (GRCm39) N134S possibly damaging Het
Gm10110 A T 14: 90,134,982 (GRCm39) noncoding transcript Het
Gm7275 A T 16: 47,893,982 (GRCm39) noncoding transcript Het
Gm904 T A 13: 50,799,285 (GRCm39) C81* probably null Het
Herc1 T A 9: 66,344,946 (GRCm39) V1913E probably damaging Het
Hnmt T C 2: 23,909,111 (GRCm39) probably null Het
Ift172 T C 5: 31,411,299 (GRCm39) E1643G probably damaging Het
Inpp4b T A 8: 82,468,040 (GRCm39) M1K probably null Het
Keap1 G T 9: 21,148,905 (GRCm39) A34D probably damaging Het
Krt25 T C 11: 99,208,854 (GRCm39) probably benign Het
Lama2 A G 10: 26,865,410 (GRCm39) V2916A probably benign Het
Ly9 G A 1: 171,421,443 (GRCm39) Q603* probably null Het
Mis18bp1 A C 12: 65,205,280 (GRCm39) N14K possibly damaging Het
Mmrn1 G T 6: 60,937,797 (GRCm39) C265F probably damaging Het
Mrgprb5 C T 7: 47,817,809 (GRCm39) E309K probably benign Het
Nrtn T C 17: 57,058,504 (GRCm39) T166A probably damaging Het
Odr4 A G 1: 150,262,103 (GRCm39) probably null Het
Or8g50 T C 9: 39,648,146 (GRCm39) F12L probably damaging Het
Osbpl7 T A 11: 96,947,098 (GRCm39) S266R probably damaging Het
Pcdhb11 T C 18: 37,555,549 (GRCm39) I293T probably damaging Het
Pes1 A G 11: 3,927,986 (GRCm39) Y546C probably damaging Het
Pth1r A T 9: 110,551,339 (GRCm39) W587R probably benign Het
Rasgrf2 A G 13: 92,174,789 (GRCm39) Y147H probably damaging Het
Rbbp8 T A 18: 11,865,322 (GRCm39) L737* probably null Het
Rcor3 A T 1: 191,810,217 (GRCm39) F153L probably damaging Het
Rev3l G A 10: 39,682,929 (GRCm39) C349Y probably damaging Het
Rnf115 C T 3: 96,695,889 (GRCm39) T225M probably benign Het
Rnf157 A G 11: 116,250,098 (GRCm39) V200A probably damaging Het
Scfd2 T C 5: 74,372,917 (GRCm39) T653A probably benign Het
Sdccag8 T C 1: 176,775,858 (GRCm39) Y590H probably damaging Het
Sema4d T A 13: 51,877,654 (GRCm39) K59N probably benign Het
Serpinb7 C A 1: 107,379,563 (GRCm39) H323Q probably damaging Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Sgk3 T C 1: 9,969,020 (GRCm39) S466P possibly damaging Het
Sgsm2 T C 11: 74,741,958 (GRCm39) M1011V probably damaging Het
Ssc4d G A 5: 135,993,538 (GRCm39) P106L probably benign Het
Taf7 T C 18: 37,775,784 (GRCm39) Q261R possibly damaging Het
Tbc1d2b T C 9: 90,152,553 (GRCm39) K71R possibly damaging Het
Tff3 C T 17: 31,348,508 (GRCm39) V15I probably benign Het
Tgfb3 C A 12: 86,124,589 (GRCm39) V40L possibly damaging Het
Timm10 T A 2: 84,657,992 (GRCm39) D2E possibly damaging Het
Ttll1 G A 15: 83,381,546 (GRCm39) T241I probably damaging Het
Uba6 T A 5: 86,260,603 (GRCm39) D992V probably damaging Het
Vmn1r25 T A 6: 57,955,480 (GRCm39) T270S probably benign Het
Vmn2r106 T C 17: 20,497,728 (GRCm39) I504V probably damaging Het
Vmn2r87 G T 10: 130,315,014 (GRCm39) H191N possibly damaging Het
Vnn1 C A 10: 23,775,303 (GRCm39) F184L possibly damaging Het
Vtn A T 11: 78,393,032 (GRCm39) I466F probably damaging Het
Zfp352 A C 4: 90,112,772 (GRCm39) D304A 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
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
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'- GTAAACAGGTGCACAGACCG -3'
(R):5'- AACTGGCTGGGCATAAGTCC -3'

Sequencing Primer
(F):5'- GGAGTCCCCAAGAACTCAGATC -3'
(R):5'- TGGGCATAAGTCCCCCAC -3'
Posted On 2015-09-24