Incidental Mutation 'R2312:Ttc14'
ID 247324
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 040311-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.385) question?
Stock # R2312 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 33853981-33869009 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 33861984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029222] [ENSMUST00000099153] [ENSMUST00000108210] [ENSMUST00000108210] [ENSMUST00000117915] [ENSMUST00000196139] [ENSMUST00000196369] [ENSMUST00000198529] [ENSMUST00000199222] [ENSMUST00000200271] [ENSMUST00000196975]
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
SMART Domains Protein: ENSMUSP00000103845
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
coiled coil region 415 476 N/A INTRINSIC
low complexity region 617 630 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000108210
SMART Domains Protein: ENSMUSP00000103845
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
coiled coil region 415 476 N/A INTRINSIC
low complexity region 617 630 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000117915
SMART Domains Protein: ENSMUSP00000112450
Gene: ENSMUSG00000027677

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: ENSMUST00000196139
SMART Domains Protein: ENSMUSP00000143173
Gene: ENSMUSG00000027677

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: 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 null
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 noncoding transcript
Transcript: ENSMUST00000197592
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
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp12 A G 1: 92,934,531 (GRCm39) E136G probably benign Het
Bltp3b A G 10: 89,616,995 (GRCm39) T179A probably damaging Het
Cdhr4 G A 9: 107,872,486 (GRCm39) V244I probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crygf A T 1: 65,965,717 (GRCm39) M1L probably benign Het
Dapk1 G T 13: 60,905,167 (GRCm39) C959F probably damaging Het
Dop1a C G 9: 86,403,495 (GRCm39) S1565* probably null Het
Eya4 A G 10: 22,982,163 (GRCm39) S622P probably damaging Het
Fbln1 T C 15: 85,147,549 (GRCm39) V598A probably benign Het
Gldc A T 19: 30,078,226 (GRCm39) F924I probably damaging Het
H1f10 T C 6: 87,958,130 (GRCm39) Y70C probably damaging Het
Herc1 C A 9: 66,415,563 (GRCm39) S4846* probably null Het
Jmjd1c A T 10: 67,074,629 (GRCm39) K1917N probably damaging Het
Kcnh2 A G 5: 24,529,952 (GRCm39) probably null Het
Lmtk2 T C 5: 144,110,444 (GRCm39) F388S probably damaging Het
Lpar1 A C 4: 58,487,168 (GRCm39) Y34* probably null Het
Lrpprc G A 17: 85,080,686 (GRCm39) P180S probably damaging Het
Mex3a A G 3: 88,443,785 (GRCm39) H287R probably damaging Het
Nid1 A G 13: 13,675,078 (GRCm39) T933A probably benign Het
Or52r1c A G 7: 102,735,633 (GRCm39) T298A probably damaging Het
Pcdhb7 A G 18: 37,475,250 (GRCm39) T129A probably benign Het
Pfkm T A 15: 98,023,456 (GRCm39) Y385N probably damaging Het
Prmt2 G A 10: 76,062,089 (GRCm39) Q39* probably null Het
Prx T C 7: 27,216,051 (GRCm39) V184A possibly damaging Het
Ptgdr A C 14: 45,096,619 (GRCm39) L31R probably damaging Het
Rab3b A G 4: 108,747,691 (GRCm39) T63A probably damaging Het
Rassf1 T C 9: 107,434,749 (GRCm39) M156T probably damaging Het
Rhobtb1 C A 10: 69,106,293 (GRCm39) S286* probably null Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rmnd1 A T 10: 4,377,466 (GRCm39) M71K probably benign Het
Rnf130 T A 11: 49,978,290 (GRCm39) probably null Het
Rxrb T A 17: 34,251,103 (GRCm39) probably benign Het
Ryr2 G T 13: 11,753,128 (GRCm39) T1731K probably damaging Het
Serpine2 A T 1: 79,780,570 (GRCm39) L293Q probably damaging Het
Skint6 T C 4: 113,095,339 (GRCm39) T107A probably damaging Het
Slc9a8 T A 2: 167,293,196 (GRCm39) H181Q probably benign Het
Spaca3 A T 11: 80,754,037 (GRCm39) Y58F possibly damaging Het
Sptbn1 T C 11: 30,104,249 (GRCm39) T152A probably damaging Het
Tlr2 A G 3: 83,744,847 (GRCm39) L412P probably damaging Het
Trak2 A G 1: 58,974,941 (GRCm39) S84P probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm2 C A 10: 77,754,798 (GRCm39) E1229D probably benign Het
Tyrp1 G A 4: 80,755,801 (GRCm39) W190* probably null Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vegfb C A 19: 6,962,795 (GRCm39) R160L possibly damaging Het
Vmn1r220 A G 13: 23,368,147 (GRCm39) M183T probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Wnt10a C A 1: 74,842,589 (GRCm39) A355E possibly 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
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
R6270:Ttc14 UTSW 3 33,854,537 (GRCm39) missense possibly damaging 0.68
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'- ACCAACTGCAATATGGTCCTC -3'
(R):5'- ATATGGCACTTTGGGTTCAACTC -3'

Sequencing Primer
(F):5'- CAACTGCAATATGGTCCTCAATATTG -3'
(R):5'- ACTTTGGGTTCAACTCTGTTGC -3'
Posted On 2014-11-11