Incidental Mutation 'R4206:Trip13'
ID 318933
Institutional Source Beutler Lab
Gene Symbol Trip13
Ensembl Gene ENSMUSG00000021569
Gene Name thyroid hormone receptor interactor 13
Synonyms D13Ertd328e, 2410002G23Rik
MMRRC Submission 041035-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # R4206 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 74060577-74085855 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74081009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 119 (I119T)
Ref Sequence ENSEMBL: ENSMUSP00000022053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022053] [ENSMUST00000099384] [ENSMUST00000222399]
AlphaFold Q3UA06
Predicted Effect probably benign
Transcript: ENSMUST00000022053
AA Change: I119T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000022053
Gene: ENSMUSG00000021569
AA Change: I119T

DomainStartEndE-ValueType
AAA 171 323 1.13e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099384
SMART Domains Protein: ENSMUSP00000096982
Gene: ENSMUSG00000057649

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
coiled coil region 53 104 N/A INTRINSIC
low complexity region 116 127 N/A INTRINSIC
BROMO 134 242 1.52e-30 SMART
low complexity region 249 264 N/A INTRINSIC
Pfam:DUF3512 274 505 1.6e-82 PFAM
low complexity region 544 557 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222191
Predicted Effect probably benign
Transcript: ENSMUST00000222399
Predicted Effect unknown
Transcript: ENSMUST00000223017
AA Change: I63T
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit postnatal lethality, infertility, reduced gonad size, tail defects and meiotic arrest of sperm and oocytes associated with unrepaired double strand breaks. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,315,435 (GRCm39) K81R probably benign Het
Acacb T C 5: 114,351,712 (GRCm39) F1150L probably benign Het
Acat3 A G 17: 13,146,273 (GRCm39) Y237H possibly damaging Het
Arfgap3 T C 15: 83,206,869 (GRCm39) T240A probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Cabin1 T C 10: 75,590,675 (GRCm39) S23G possibly damaging Het
Cemip2 G T 19: 21,819,479 (GRCm39) R1090L probably damaging Het
Clasp1 A G 1: 118,506,636 (GRCm39) N949S probably damaging Het
Csrp1 T G 1: 135,673,065 (GRCm39) C61G probably damaging Het
Dgka A T 10: 128,557,064 (GRCm39) L637Q probably damaging Het
Dst G A 1: 34,251,328 (GRCm39) R1801H probably damaging Het
Edil3 T C 13: 89,328,397 (GRCm39) S284P probably damaging Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Ell2 A G 13: 75,910,067 (GRCm39) D139G probably damaging Het
Fam187a A G 11: 102,777,038 (GRCm39) R281G probably damaging Het
Gin1 A G 1: 97,720,145 (GRCm39) D380G possibly damaging Het
Gpr149 T G 3: 62,511,924 (GRCm39) D25A possibly damaging Het
Gyg1 A G 3: 20,206,901 (GRCm39) S90P probably benign Het
Hpx C T 7: 105,244,354 (GRCm39) M190I probably null Het
Irf2bpl C T 12: 86,929,810 (GRCm39) V288I probably benign Het
Lyst A G 13: 13,810,574 (GRCm39) H748R probably benign Het
Mmrn1 G A 6: 60,935,164 (GRCm39) G220D probably damaging Het
Mpdz A T 4: 81,299,999 (GRCm39) M333K probably benign Het
Muc5ac C T 7: 141,370,847 (GRCm39) S2556F possibly damaging Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Ntsr1 A G 2: 180,142,545 (GRCm39) D112G probably damaging Het
Or56b1 T A 7: 104,285,356 (GRCm39) N158K possibly damaging Het
Or7a42 T C 10: 78,791,117 (GRCm39) F26S probably benign Het
Or9s14 A C 1: 92,536,317 (GRCm39) T253P possibly damaging Het
Parg A G 14: 31,976,493 (GRCm39) K178R probably benign Het
Pde8b C A 13: 95,359,053 (GRCm39) C90F probably benign Het
Pld1 G A 3: 28,174,932 (GRCm39) V857I probably benign Het
Rad54l2 A C 9: 106,594,994 (GRCm39) V321G probably damaging Het
Rcn2 A G 9: 55,952,491 (GRCm39) Y112C possibly damaging Het
Rnf123 A T 9: 107,941,162 (GRCm39) D639E probably benign Het
Rufy2 C T 10: 62,840,551 (GRCm39) Q441* probably null Het
Scgb2b12 T C 7: 32,026,063 (GRCm39) Y43C probably damaging Het
Scrn3 T A 2: 73,149,845 (GRCm39) probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc22a8 T C 19: 8,585,597 (GRCm39) S321P probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tex2 A G 11: 106,458,398 (GRCm39) probably benign Het
Tsku C T 7: 98,002,205 (GRCm39) R42H probably damaging Het
Ttn A G 2: 76,602,911 (GRCm39) I16691T possibly damaging Het
Tyr A G 7: 87,078,276 (GRCm39) L528P possibly damaging Het
Ubxn2b T C 4: 6,204,565 (GRCm39) V142A probably damaging Het
Uggt2 C T 14: 119,286,674 (GRCm39) D221N probably damaging Het
Wnt4 A G 4: 137,023,654 (GRCm39) K207R possibly damaging Het
Zfp608 T C 18: 55,121,267 (GRCm39) R107G probably damaging Het
Other mutations in Trip13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03094:Trip13 APN 13 74,081,075 (GRCm39) missense probably benign 0.00
E0370:Trip13 UTSW 13 74,068,558 (GRCm39) splice site probably benign
R0153:Trip13 UTSW 13 74,068,183 (GRCm39) missense possibly damaging 0.52
R1945:Trip13 UTSW 13 74,076,043 (GRCm39) missense probably damaging 1.00
R3880:Trip13 UTSW 13 74,066,597 (GRCm39) missense probably damaging 1.00
R5758:Trip13 UTSW 13 74,085,614 (GRCm39) missense probably benign 0.00
R6278:Trip13 UTSW 13 74,061,439 (GRCm39) missense probably benign 0.00
R6298:Trip13 UTSW 13 74,084,378 (GRCm39) nonsense probably null
R7106:Trip13 UTSW 13 74,062,651 (GRCm39) missense probably benign 0.04
R7159:Trip13 UTSW 13 74,068,130 (GRCm39) missense probably benign 0.04
R7544:Trip13 UTSW 13 74,081,021 (GRCm39) missense probably benign 0.00
R8035:Trip13 UTSW 13 74,061,373 (GRCm39) missense probably benign
R8488:Trip13 UTSW 13 74,081,032 (GRCm39) missense probably benign
R8720:Trip13 UTSW 13 74,063,590 (GRCm39) missense probably benign
R8881:Trip13 UTSW 13 74,077,795 (GRCm39) missense possibly damaging 0.70
R8915:Trip13 UTSW 13 74,081,085 (GRCm39) missense probably benign
R9555:Trip13 UTSW 13 74,084,252 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TTCCTTTGAAATCACCACCAATCA -3'
(R):5'- TGGACTTTAGCGTATATACTACAAGTA -3'

Sequencing Primer
(F):5'- TCGATCACGTCCTTGAAGAAG -3'
(R):5'- TACTACAAGTAAAGAAGGCGTGTCC -3'
Posted On 2015-06-10