Incidental Mutation 'R8021:Ttc14'
ID 617345
Institutional Source Beutler Lab
Gene Symbol Ttc14
Ensembl Gene ENSMUSG00000027677
Gene Name tetratricopeptide repeat domain 14
Synonyms cI-44, 2700016E08Rik, 4930434D01Rik, 4931403I22Rik, 4933402I15Rik
MMRRC Submission 067460-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.378) question?
Stock # R8021 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 33799832-33814860 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 33809121 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 559 (Y559*)
Ref Sequence ENSEMBL: ENSMUSP00000112450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029222] [ENSMUST00000099153] [ENSMUST00000108210] [ENSMUST00000117915] [ENSMUST00000196369] [ENSMUST00000196975] [ENSMUST00000198529] [ENSMUST00000199222] [ENSMUST00000200271]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029222
SMART Domains Protein: ENSMUSP00000029222
Gene: ENSMUSG00000027676

DomainStartEndE-ValueType
coiled coil region 16 67 N/A INTRINSIC
coiled coil region 164 198 N/A INTRINSIC
coiled coil region 232 339 N/A INTRINSIC
low complexity region 381 393 N/A INTRINSIC
internal_repeat_1 569 603 1.19e-5 PROSPERO
internal_repeat_1 598 635 1.19e-5 PROSPERO
coiled coil region 664 704 N/A INTRINSIC
coiled coil region 726 766 N/A INTRINSIC
low complexity region 873 889 N/A INTRINSIC
low complexity region 915 928 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099153
SMART Domains Protein: ENSMUSP00000096757
Gene: ENSMUSG00000027677

DomainStartEndE-ValueType
low complexity region 38 56 N/A INTRINSIC
S1 123 207 7.28e-2 SMART
TPR 306 339 6.19e-1 SMART
TPR 340 373 2.11e-3 SMART
TPR 381 414 1.88e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000108210
AA Change: Y611*
SMART Domains Protein: ENSMUSP00000103845
Gene: ENSMUSG00000027677
AA Change: Y611*

DomainStartEndE-ValueType
low complexity region 38 56 N/A INTRINSIC
S1 123 207 7.28e-2 SMART
TPR 306 339 6.19e-1 SMART
TPR 340 373 2.11e-3 SMART
TPR 381 414 1.88e0 SMART
coiled coil region 415 476 N/A INTRINSIC
low complexity region 617 630 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000117915
AA Change: Y559*
SMART Domains Protein: ENSMUSP00000112450
Gene: ENSMUSG00000027677
AA Change: Y559*

DomainStartEndE-ValueType
low complexity region 38 56 N/A INTRINSIC
S1 123 207 7.28e-2 SMART
TPR 254 287 6.19e-1 SMART
TPR 288 321 2.11e-3 SMART
TPR 329 362 1.88e0 SMART
coiled coil region 363 424 N/A INTRINSIC
low complexity region 565 578 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196369
SMART Domains Protein: ENSMUSP00000142863
Gene: ENSMUSG00000027677

DomainStartEndE-ValueType
S1 21 105 7.28e-2 SMART
TPR 204 237 6.19e-1 SMART
TPR 238 271 2.11e-3 SMART
TPR 279 312 1.88e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196975
SMART Domains Protein: ENSMUSP00000142684
Gene: ENSMUSG00000027677

DomainStartEndE-ValueType
low complexity region 38 56 N/A INTRINSIC
S1 123 207 4.6e-4 SMART
TPR 254 287 3e-3 SMART
TPR 288 321 1e-5 SMART
TPR 329 362 9e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198529
SMART Domains Protein: ENSMUSP00000143073
Gene: ENSMUSG00000027677

DomainStartEndE-ValueType
low complexity region 38 56 N/A INTRINSIC
S1 123 207 7.28e-2 SMART
Pfam:TPR_11 304 371 2.1e-12 PFAM
Pfam:TPR_2 306 339 1.9e-4 PFAM
Pfam:TPR_1 308 339 1.3e-4 PFAM
Pfam:TPR_1 340 373 2.9e-5 PFAM
Pfam:TPR_2 340 373 6.8e-4 PFAM
low complexity region 395 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199222
SMART Domains Protein: ENSMUSP00000142935
Gene: ENSMUSG00000027677

DomainStartEndE-ValueType
low complexity region 38 56 N/A INTRINSIC
S1 123 207 7.28e-2 SMART
TPR 306 339 6.19e-1 SMART
TPR 340 373 2.11e-3 SMART
TPR 381 414 1.88e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200271
SMART Domains Protein: ENSMUSP00000143738
Gene: ENSMUSG00000027677

DomainStartEndE-ValueType
S1 120 204 7.28e-2 SMART
TPR 303 336 6.19e-1 SMART
TPR 337 370 2.11e-3 SMART
TPR 378 411 1.88e0 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (74/76)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810010H24Rik A G 11: 107,025,927 (GRCm38) I12V unknown Het
9130011E15Rik C T 19: 45,956,741 (GRCm38) probably null Het
A630010A05Rik C T 16: 14,589,246 (GRCm38) T13I Het
Acsm5 A G 7: 119,542,393 (GRCm38) E537G possibly damaging Het
Adam25 C A 8: 40,754,759 (GRCm38) A354E probably damaging Het
Adamts3 T C 5: 89,683,184 (GRCm38) K1004E possibly damaging Het
Ap3d1 C A 10: 80,714,301 (GRCm38) V699L probably benign Het
Arel1 T G 12: 84,934,958 (GRCm38) H216P possibly damaging Het
Armc12 T A 17: 28,530,905 (GRCm38) F8I probably benign Het
Ascc3 T A 10: 50,731,648 (GRCm38) M1416K probably benign Het
Catsperb A C 12: 101,588,063 (GRCm38) N672T probably benign Het
Ccdc30 T C 4: 119,352,679 (GRCm38) H291R probably benign Het
Cd33 A G 7: 43,528,838 (GRCm38) V371A unknown Het
Cpt1b A T 15: 89,421,426 (GRCm38) M362K probably benign Het
Dusp5 T A 19: 53,529,498 (GRCm38) S61T probably benign Het
Eogt T G 6: 97,134,330 (GRCm38) D190A probably damaging Het
Fat3 T A 9: 15,999,109 (GRCm38) I1866F probably damaging Het
Fer1l4 T A 2: 156,022,591 (GRCm38) I1668F probably damaging Het
Foxn3 A T 12: 99,388,902 (GRCm38) M1K probably null Het
Frs3 T A 17: 47,703,114 (GRCm38) V244E probably damaging Het
Gm8765 A G 13: 50,701,094 (GRCm38) N256S possibly damaging Het
Grik1 C T 16: 87,914,222 (GRCm38) V832I Het
Gtf2ird2 T A 5: 134,203,334 (GRCm38) V242E probably benign Het
Gtpbp2 C T 17: 46,164,269 (GRCm38) R97C possibly damaging Het
Habp2 T A 19: 56,314,053 (GRCm38) V263E probably benign Het
Iars2 T A 1: 185,322,457 (GRCm38) I337L probably benign Het
Ifi204 T C 1: 173,759,353 (GRCm38) probably benign Het
Itih2 T C 2: 10,105,652 (GRCm38) T543A probably benign Het
Kdm2b A G 5: 122,932,919 (GRCm38) S372P probably damaging Het
Kit T A 5: 75,615,491 (GRCm38) V311E possibly damaging Het
Kmt2c C G 5: 25,287,119 (GRCm38) V4230L possibly damaging Het
Lao1 T C 4: 118,968,477 (GRCm38) I498T probably damaging Het
Lrp1 G T 10: 127,548,346 (GRCm38) D3641E possibly damaging Het
Mapk8ip1 A T 2: 92,386,415 (GRCm38) S477T possibly damaging Het
Mast3 C T 8: 70,788,252 (GRCm38) G218S probably benign Het
Mical1 T C 10: 41,482,724 (GRCm38) V546A probably damaging Het
Nck2 T C 1: 43,554,260 (GRCm38) V209A probably benign Het
Ndufs4 A G 13: 114,307,815 (GRCm38) probably null Het
Nek3 C T 8: 22,157,190 (GRCm38) V139M probably damaging Het
Olfr1417 T C 19: 11,828,892 (GRCm38) I45V probably benign Het
Olfr863-ps1 A C 9: 19,942,079 (GRCm38) Y120* probably null Het
Olfr877 T A 9: 37,855,296 (GRCm38) H159Q probably damaging Het
Olfr994 A T 2: 85,430,652 (GRCm38) M59K probably damaging Het
Otog A T 7: 46,267,342 (GRCm38) N901I probably damaging Het
Pclo A C 5: 14,539,784 (GRCm38) Q699H unknown Het
Pcnx C T 12: 81,918,819 (GRCm38) R59* probably null Het
Pde12 A T 14: 26,665,699 (GRCm38) Y551* probably null Het
Pigg A G 5: 108,319,939 (GRCm38) D268G probably damaging Het
Ppp1r21 A G 17: 88,549,507 (GRCm38) D130G probably benign Het
Psip1 T C 4: 83,459,955 (GRCm38) T435A possibly damaging Het
Rad54l2 T C 9: 106,719,641 (GRCm38) S189G probably benign Het
Rgs14 T C 13: 55,383,756 (GRCm38) C498R probably damaging Het
Ripply3 C A 16: 94,328,510 (GRCm38) A5E probably benign Het
Rps6ka4 T C 19: 6,830,409 (GRCm38) D676G probably benign Het
Rsbn1 T C 3: 103,928,582 (GRCm38) L312S possibly damaging Het
Secisbp2 T A 13: 51,665,628 (GRCm38) *415R probably null Het
Sephs1 T A 2: 4,906,623 (GRCm38) F336Y probably benign Het
Setdb2 A T 14: 59,423,384 (GRCm38) Y103* probably null Het
Slit2 T A 5: 48,302,492 (GRCm38) C1371* probably null Het
Stab2 C T 10: 86,905,539 (GRCm38) A1239T possibly damaging Het
Taf4b T A 18: 14,804,524 (GRCm38) V218E probably damaging Het
Tars2 T C 3: 95,747,514 (GRCm38) N393S probably benign Het
Tbc1d30 A G 10: 121,267,543 (GRCm38) M528T probably benign Het
Tchp A G 5: 114,718,417 (GRCm38) E363G probably damaging Het
Tec T A 5: 72,757,469 (GRCm38) N568I probably benign Het
Ticam1 A G 17: 56,270,089 (GRCm38) S669P unknown Het
Tnk1 A G 11: 69,854,984 (GRCm38) S372P probably benign Het
Tnpo2 G A 8: 85,055,206 (GRCm38) A847T probably damaging Het
Tsc1 A T 2: 28,686,889 (GRCm38) I1068F possibly damaging Het
Ttc41 C A 10: 86,733,714 (GRCm38) T652N probably benign Het
Tut1 T A 19: 8,955,509 (GRCm38) S69T probably benign Het
Uck1 T C 2: 32,259,917 (GRCm38) S40G probably benign Het
Vmn2r76 G A 7: 86,225,750 (GRCm38) T673I probably damaging Het
Vps13d G T 4: 145,148,675 (GRCm38) P1760H Het
Zbp1 T C 2: 173,209,210 (GRCm38) N289S possibly damaging Het
Zc3hav1l C A 6: 38,297,947 (GRCm38) probably benign Het
Zzef1 A T 11: 72,823,416 (GRCm38) D244V probably damaging Het
Other mutations in Ttc14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Ttc14 APN 3 33,803,099 (GRCm38) missense probably benign 0.35
IGL01326:Ttc14 APN 3 33,801,358 (GRCm38) missense probably benign 0.14
R0196:Ttc14 UTSW 3 33,809,254 (GRCm38) unclassified probably benign
R0427:Ttc14 UTSW 3 33,803,484 (GRCm38) missense probably damaging 1.00
R1713:Ttc14 UTSW 3 33,802,920 (GRCm38) missense probably damaging 1.00
R2312:Ttc14 UTSW 3 33,807,835 (GRCm38) splice site probably null
R2434:Ttc14 UTSW 3 33,801,078 (GRCm38) missense probably benign 0.40
R4794:Ttc14 UTSW 3 33,803,149 (GRCm38) missense probably benign 0.00
R4825:Ttc14 UTSW 3 33,801,369 (GRCm38) missense possibly damaging 0.88
R4888:Ttc14 UTSW 3 33,806,875 (GRCm38) nonsense probably null
R5143:Ttc14 UTSW 3 33,808,901 (GRCm38) unclassified probably benign
R6051:Ttc14 UTSW 3 33,808,924 (GRCm38) unclassified probably benign
R6270:Ttc14 UTSW 3 33,800,388 (GRCm38) missense possibly damaging 0.68
R6415:Ttc14 UTSW 3 33,803,575 (GRCm38) missense possibly damaging 0.81
R6439:Ttc14 UTSW 3 33,808,819 (GRCm38) unclassified probably benign
R7021:Ttc14 UTSW 3 33,803,497 (GRCm38) missense probably damaging 0.99
R7571:Ttc14 UTSW 3 33,809,251 (GRCm38) missense unknown
R7751:Ttc14 UTSW 3 33,809,441 (GRCm38) missense unknown
R8388:Ttc14 UTSW 3 33,800,586 (GRCm38) missense probably benign 0.01
R8884:Ttc14 UTSW 3 33,800,547 (GRCm38) missense unknown
R9169:Ttc14 UTSW 3 33,802,922 (GRCm38) nonsense probably null
R9399:Ttc14 UTSW 3 33,804,707 (GRCm38) missense possibly damaging 0.62
R9438:Ttc14 UTSW 3 33,804,712 (GRCm38) missense probably damaging 1.00
R9537:Ttc14 UTSW 3 33,803,198 (GRCm38) missense probably damaging 0.96
R9663:Ttc14 UTSW 3 33,801,388 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGATTGCTACCCAGTTCCAAC -3'
(R):5'- TCTGAACTTGCTGGTGAAGTAGAG -3'

Sequencing Primer
(F):5'- GATTGCTACCCAGTTCCAACTAATAC -3'
(R):5'- GAGTACTTCACAGAACTTGGCTC -3'
Posted On 2020-01-23