Incidental Mutation 'R6270:Ttc14'
ID 533173
Institutional Source Beutler Lab
Gene Symbol Ttc14
Ensembl Gene ENSMUSG00000027677
Gene Name tetratricopeptide repeat domain 14
Synonyms 4933402I15Rik, 4931403I22Rik, cI-44, 4930434D01Rik, 2700016E08Rik
MMRRC Submission 044441-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.385) question?
Stock # R6270 (G1)
Quality Score 63.0073
Status Validated
Chromosome 3
Chromosomal Location 33853981-33869009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 33854537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 37 (T37K)
Ref Sequence ENSEMBL: ENSMUSP00000112450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099153] [ENSMUST00000108210] [ENSMUST00000117915] [ENSMUST00000196139] [ENSMUST00000196975] [ENSMUST00000198529] [ENSMUST00000199222]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000099153
AA Change: T37K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000096757
Gene: ENSMUSG00000027677
AA Change: T37K

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 possibly damaging
Transcript: ENSMUST00000108210
AA Change: T37K

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103845
Gene: ENSMUSG00000027677
AA Change: T37K

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 possibly damaging
Transcript: ENSMUST00000117915
AA Change: T37K

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112450
Gene: ENSMUSG00000027677
AA Change: T37K

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 possibly damaging
Transcript: ENSMUST00000196139
AA Change: T37K

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143173
Gene: ENSMUSG00000027677
AA Change: T37K

DomainStartEndE-ValueType
low complexity region 38 54 N/A INTRINSIC
SCOP:d1go3e_ 144 217 3e-5 SMART
Blast:S1 154 217 2e-39 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000196975
AA Change: T37K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000142684
Gene: ENSMUSG00000027677
AA Change: T37K

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
AA Change: T37K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000143073
Gene: ENSMUSG00000027677
AA Change: T37K

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
AA Change: T37K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000142935
Gene: ENSMUSG00000027677
AA Change: T37K

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,242,933 (GRCm39) E648G probably benign Het
Ak7 A G 12: 105,734,960 (GRCm39) H642R probably benign Het
Akap11 T C 14: 78,756,239 (GRCm39) E53G probably damaging Het
Ark2n T C 18: 77,762,117 (GRCm39) D65G probably damaging Het
Ddr2 T G 1: 169,816,109 (GRCm39) T533P probably benign Het
Dhx40 A G 11: 86,690,431 (GRCm39) S197P possibly damaging Het
Dolpp1 C A 2: 30,282,281 (GRCm39) probably benign Het
Eng A G 2: 32,563,655 (GRCm39) D347G probably benign Het
Esrra C T 19: 6,891,488 (GRCm39) probably null Het
Fap T C 2: 62,378,132 (GRCm39) I159V probably damaging Het
Fn1 C T 1: 71,676,434 (GRCm39) C599Y probably damaging Het
Fnbp4 T C 2: 90,587,807 (GRCm39) V395A probably damaging Het
Foxn3 T C 12: 99,354,676 (GRCm39) R163G probably damaging Het
Gphn T G 12: 78,569,724 (GRCm39) L306R probably benign Het
Gse1 T C 8: 121,295,902 (GRCm39) probably benign Het
Habp2 A G 19: 56,295,295 (GRCm39) D62G possibly damaging Het
Hdac7 AGGG AGGGG 15: 97,706,376 (GRCm39) probably null Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Kit A G 5: 75,770,169 (GRCm39) T194A probably benign Het
Krt16 C A 11: 100,138,029 (GRCm39) A316S possibly damaging Het
Krt7 A G 15: 101,317,439 (GRCm39) D244G probably damaging Het
Lhfpl3 T A 5: 23,478,349 (GRCm39) Y77* probably null Het
Lrrc18 A T 14: 32,731,078 (GRCm39) M206L probably benign Het
Magel2 C A 7: 62,030,406 (GRCm39) C1103* probably null Het
Mcf2l T C 8: 13,068,701 (GRCm39) V1058A probably damaging Het
Nbas G A 12: 13,374,294 (GRCm39) A541T probably damaging Het
Nrap C T 19: 56,308,630 (GRCm39) M1485I probably benign Het
Nudt18 T C 14: 70,816,830 (GRCm39) Y145H probably benign Het
Or51b6b T C 7: 103,309,620 (GRCm39) Y279C possibly damaging Het
Or51f1d T C 7: 102,700,538 (GRCm39) L11P probably benign Het
Or5k8 A T 16: 58,644,782 (GRCm39) C97S probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb12 A T 18: 37,569,838 (GRCm39) Q328L possibly damaging Het
Pde6c T C 19: 38,146,884 (GRCm39) W431R probably damaging Het
Pga5 T C 19: 10,652,225 (GRCm39) E139G probably benign Het
Pkdrej G T 15: 85,705,306 (GRCm39) S210* probably null Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Sema3d A T 5: 12,498,074 (GRCm39) M27L probably benign Het
Serinc5 T C 13: 92,825,170 (GRCm39) S200P probably damaging Het
Sf3b3 T C 8: 111,568,452 (GRCm39) D174G probably damaging Het
Sult1b1 A T 5: 87,665,413 (GRCm39) probably null Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcaf3 T C 6: 42,570,725 (GRCm39) I342M probably benign Het
Tenm3 G A 8: 48,820,429 (GRCm39) T136M probably damaging Het
Tet3 T C 6: 83,352,773 (GRCm39) T1008A possibly damaging Het
Tgif1 T C 17: 71,151,861 (GRCm39) probably null Het
Trav15-2-dv6-2 A G 14: 53,887,323 (GRCm39) D81G probably benign Het
Trpv5 T A 6: 41,651,293 (GRCm39) H251L possibly damaging Het
Vmn2r80 A T 10: 79,030,159 (GRCm39) I662L probably benign Het
Vmn2r81 A G 10: 79,129,649 (GRCm39) I847V probably benign Het
Zfp474 A G 18: 52,771,436 (GRCm39) T30A probably benign Het
Zswim4 C T 8: 84,957,580 (GRCm39) V163M probably damaging Het
Other mutations in Ttc14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Ttc14 APN 3 33,857,248 (GRCm39) missense probably benign 0.35
IGL01326:Ttc14 APN 3 33,855,507 (GRCm39) missense probably benign 0.14
R0196:Ttc14 UTSW 3 33,863,403 (GRCm39) unclassified probably benign
R0427:Ttc14 UTSW 3 33,857,633 (GRCm39) missense probably damaging 1.00
R1713:Ttc14 UTSW 3 33,857,069 (GRCm39) missense probably damaging 1.00
R2312:Ttc14 UTSW 3 33,861,984 (GRCm39) splice site probably null
R2434:Ttc14 UTSW 3 33,855,227 (GRCm39) missense probably benign 0.40
R4794:Ttc14 UTSW 3 33,857,298 (GRCm39) missense probably benign 0.00
R4825:Ttc14 UTSW 3 33,855,518 (GRCm39) missense possibly damaging 0.88
R4888:Ttc14 UTSW 3 33,861,024 (GRCm39) nonsense probably null
R5143:Ttc14 UTSW 3 33,863,050 (GRCm39) unclassified probably benign
R6051:Ttc14 UTSW 3 33,863,073 (GRCm39) unclassified probably benign
R6415:Ttc14 UTSW 3 33,857,724 (GRCm39) missense possibly damaging 0.81
R6439:Ttc14 UTSW 3 33,862,968 (GRCm39) unclassified probably benign
R7021:Ttc14 UTSW 3 33,857,646 (GRCm39) missense probably damaging 0.99
R7571:Ttc14 UTSW 3 33,863,400 (GRCm39) missense unknown
R7751:Ttc14 UTSW 3 33,863,590 (GRCm39) missense unknown
R8021:Ttc14 UTSW 3 33,863,270 (GRCm39) nonsense probably null
R8388:Ttc14 UTSW 3 33,854,735 (GRCm39) missense probably benign 0.01
R8884:Ttc14 UTSW 3 33,854,696 (GRCm39) missense unknown
R9169:Ttc14 UTSW 3 33,857,071 (GRCm39) nonsense probably null
R9399:Ttc14 UTSW 3 33,858,856 (GRCm39) missense possibly damaging 0.62
R9438:Ttc14 UTSW 3 33,858,861 (GRCm39) missense probably damaging 1.00
R9537:Ttc14 UTSW 3 33,857,347 (GRCm39) missense probably damaging 0.96
R9663:Ttc14 UTSW 3 33,855,537 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACGTACGTGCTAAGCTCAG -3'
(R):5'- TTCTCTCTGGAAACGGGAGC -3'

Sequencing Primer
(F):5'- TACGTGCTAAGCTCAGGCGTC -3'
(R):5'- AGCAGGGAAGCTTTGGC -3'
Posted On 2018-09-12