Incidental Mutation 'R9390:Ttc16'
ID 710521
Institutional Source Beutler Lab
Gene Symbol Ttc16
Ensembl Gene ENSMUSG00000039021
Gene Name tetratricopeptide repeat domain 16
Synonyms 1200002K10Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R9390 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 32647038-32665645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 32657195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 577 (K577Q)
Ref Sequence ENSEMBL: ENSMUSP00000124031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009707] [ENSMUST00000066478] [ENSMUST00000091059] [ENSMUST00000125891] [ENSMUST00000161089] [ENSMUST00000161430] [ENSMUST00000161950] [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 possibly damaging
Transcript: ENSMUST00000066478
AA Change: K520Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021
AA Change: K520Q

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: K577Q

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021
AA Change: K577Q

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 possibly damaging
Transcript: ENSMUST00000161089
AA Change: K520Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021
AA Change: K520Q

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: ENSMUST00000161430
AA Change: K577Q

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021
AA Change: K577Q

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 possibly damaging
Transcript: ENSMUST00000161950
AA Change: K520Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021
AA Change: K520Q

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: ENSMUST00000175763
SMART Domains Protein: ENSMUSP00000135701
Gene: ENSMUSG00000009563

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik A T 16: 90,853,096 (GRCm39) S13R probably benign Het
Amn1 A T 6: 149,084,983 (GRCm39) D32E probably damaging Het
Asph T C 4: 9,635,927 (GRCm39) D108G probably damaging Het
C1rb T C 6: 124,557,336 (GRCm39) L491P probably damaging Het
Cep120 G A 18: 53,839,984 (GRCm39) R759* probably null Het
Chmp6 C T 11: 119,806,288 (GRCm39) T38M possibly damaging Het
Comtd1 A G 14: 21,898,867 (GRCm39) F25S possibly damaging Het
Dthd1 G A 5: 62,975,904 (GRCm39) G193R possibly damaging Het
Dyrk1a T A 16: 94,474,330 (GRCm39) S362R probably damaging Het
Ecm2 A G 13: 49,683,792 (GRCm39) D590G probably benign Het
Exd1 A T 2: 119,354,180 (GRCm39) W293R probably damaging Het
Fam110a C T 2: 151,812,116 (GRCm39) R218Q probably benign Het
Fga A T 3: 82,940,610 (GRCm39) N755Y probably damaging Het
Fstl4 C A 11: 52,891,102 (GRCm39) T80K probably benign Het
Gbp5 A G 3: 142,208,783 (GRCm39) K109E probably benign Het
Gucy2g A G 19: 55,190,607 (GRCm39) V1009A probably null Het
Herc6 C T 6: 57,602,955 (GRCm39) Q545* probably null Het
Hpd T A 5: 123,318,794 (GRCm39) probably null Het
Il4 C T 11: 53,504,837 (GRCm39) R76H probably damaging Het
Inpp4b T C 8: 82,497,522 (GRCm39) V114A probably damaging Het
Ints14 A G 9: 64,891,314 (GRCm39) T432A probably benign Het
Isoc1 G A 18: 58,804,350 (GRCm39) R126H probably damaging Het
Klb G T 5: 65,533,044 (GRCm39) R451L possibly damaging Het
Lrtm2 C T 6: 119,297,948 (GRCm39) C31Y probably benign Het
Mga C T 2: 119,794,332 (GRCm39) S2672F probably damaging Het
Mkrn3 T C 7: 62,069,288 (GRCm39) I168V probably benign Het
Mlph C T 1: 90,867,088 (GRCm39) T370I probably benign Het
Naaladl1 A T 19: 6,162,725 (GRCm39) I478F probably damaging Het
Neb A T 2: 52,065,157 (GRCm39) H6251Q probably benign Het
Nom1 C T 5: 29,639,766 (GRCm39) R31C probably benign Het
Nup153 A C 13: 46,840,642 (GRCm39) F989V probably damaging Het
Nup188 T C 2: 30,220,777 (GRCm39) probably null Het
Or4c12 T C 2: 89,773,569 (GRCm39) K297E probably benign Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Or6c210 A G 10: 129,495,938 (GRCm39) T88A probably benign Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pcare T C 17: 72,057,983 (GRCm39) T565A probably benign Het
Pcdhb4 T C 18: 37,442,781 (GRCm39) V697A possibly damaging Het
Pds5a G T 5: 65,823,600 (GRCm39) Q64K probably benign Het
Pmpcb T C 5: 21,953,810 (GRCm39) F353L probably damaging Het
Pus10 G A 11: 23,656,937 (GRCm39) C221Y probably damaging Het
Qrfp A G 2: 31,698,749 (GRCm39) V61A possibly damaging Het
Runx1t1 A G 4: 13,865,932 (GRCm39) I393M probably benign Het
Sh2d5 T G 4: 137,985,481 (GRCm39) S310A probably benign Het
Shisa9 A G 16: 12,085,408 (GRCm39) E339G possibly damaging Het
Slc26a10 C T 10: 127,009,239 (GRCm39) E641K probably benign Het
Slc5a6 A G 5: 31,197,803 (GRCm39) V302A possibly damaging Het
Tdrd7 T A 4: 46,005,416 (GRCm39) D407E probably damaging Het
Trp53 A T 11: 69,478,394 (GRCm39) Q101L probably benign Het
Tsc2 T A 17: 24,823,824 (GRCm39) N994Y probably damaging Het
Vmn1r195 A G 13: 22,462,535 (GRCm39) I2V probably benign Het
Vmn2r83 G T 10: 79,317,322 (GRCm39) E522* probably null Het
Wdr48 T A 9: 119,746,245 (GRCm39) F450L probably benign Het
Wnt9a G A 11: 59,218,592 (GRCm39) E100K possibly damaging Het
Zfp729b A T 13: 67,739,182 (GRCm39) S1028T probably benign Het
Zfp729b C T 13: 67,742,014 (GRCm39) V84I 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
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
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
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'- ATACAGCACGAGCCATCTGC -3'
(R):5'- AGCAGTTCAGATTCCAGAGACTG -3'

Sequencing Primer
(F):5'- TCTATGCTAGACAATGGAAAGACC -3'
(R):5'- TTCCAGAGACTGATAAAGGGCCC -3'
Posted On 2022-04-18