Incidental Mutation 'R6945:Tchp'
ID 540836
Institutional Source Beutler Lab
Gene Symbol Tchp
Ensembl Gene ENSMUSG00000002486
Gene Name trichoplein, keratin filament binding
Synonyms A930031F18Rik
MMRRC Submission 045059-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6945 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 114707760-114722327 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114709350 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 77 (K77E)
Ref Sequence ENSEMBL: ENSMUSP00000092009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094441]
AlphaFold Q3TVW5
Predicted Effect possibly damaging
Transcript: ENSMUST00000094441
AA Change: K77E

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000092009
Gene: ENSMUSG00000002486
AA Change: K77E

DomainStartEndE-ValueType
low complexity region 19 35 N/A INTRINSIC
coiled coil region 69 140 N/A INTRINSIC
Pfam:TPH 145 485 1.5e-29 PFAM
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 96% (51/53)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430403G16Rik A C 5: 109,676,845 (GRCm38) N246K probably benign Het
AA792892 C T 5: 94,383,631 (GRCm38) H125Y possibly damaging Het
Abcc5 T A 16: 20,400,009 (GRCm38) T208S probably benign Het
Acaa2 A G 18: 74,793,309 (GRCm38) E112G probably benign Het
Adgrb1 A G 15: 74,550,024 (GRCm38) N881S probably damaging Het
Adgre1 A G 17: 57,410,844 (GRCm38) E314G probably benign Het
Adgre1 A G 17: 57,420,399 (GRCm38) E443G probably benign Het
Akp3 A G 1: 87,125,631 (GRCm38) Y102C probably damaging Het
Birc6 A G 17: 74,579,531 (GRCm38) N618S probably benign Het
Bpifc A G 10: 85,979,214 (GRCm38) V296A probably benign Het
Cacna2d3 G A 14: 28,969,318 (GRCm38) probably benign Het
Cacnb4 T C 2: 52,474,954 (GRCm38) N99S probably damaging Het
Cd38 A G 5: 43,908,006 (GRCm38) Y283C probably damaging Het
Celf4 T A 18: 25,496,236 (GRCm38) Q411L probably damaging Het
Cemip A T 7: 83,998,547 (GRCm38) H108Q probably damaging Het
Col23a1 A G 11: 51,561,893 (GRCm38) E225G unknown Het
Dnah11 T C 12: 118,060,310 (GRCm38) E1902G probably damaging Het
Dst A G 1: 34,190,490 (GRCm38) D2063G probably damaging Het
Fsip2 A T 2: 82,992,840 (GRCm38) I6306L probably benign Het
Furin A G 7: 80,391,090 (GRCm38) S667P possibly damaging Het
Glmp T A 3: 88,325,832 (GRCm38) S92R probably benign Het
Gm11563 C G 11: 99,658,472 (GRCm38) C152S unknown Het
Gm3486 A G 14: 41,484,561 (GRCm38) V185A probably benign Het
Gm4070 G A 7: 105,901,980 (GRCm38) Q622* probably null Het
Hyal1 C A 9: 107,579,170 (GRCm38) A102E probably damaging Het
Invs T C 4: 48,421,785 (GRCm38) C806R probably benign Het
L1td1 T C 4: 98,733,696 (GRCm38) V165A probably benign Het
Lama1 A G 17: 67,813,866 (GRCm38) T2666A Het
Lrit1 G C 14: 37,060,095 (GRCm38) V242L probably damaging Het
Lrrc8a A G 2: 30,256,227 (GRCm38) Y351C probably damaging Het
Myh7b T C 2: 155,622,232 (GRCm38) F551S possibly damaging Het
Myo19 A G 11: 84,897,560 (GRCm38) T333A probably benign Het
Nrp2 A T 1: 62,760,788 (GRCm38) N387I probably damaging Het
Oas2 T C 5: 120,736,139 (GRCm38) D543G probably benign Het
Olfr1040 A G 2: 86,146,084 (GRCm38) S217P probably damaging Het
Olfr117 A G 17: 37,659,514 (GRCm38) I273T possibly damaging Het
Pak7 A G 2: 136,100,939 (GRCm38) V427A probably benign Het
Pfas G A 11: 69,000,530 (GRCm38) A247V probably benign Het
Psat1 T A 19: 15,917,181 (GRCm38) T115S probably benign Het
Psme4 T A 11: 30,837,437 (GRCm38) D1077E probably benign Het
Rabgap1l A G 1: 160,682,182 (GRCm38) S442P probably benign Het
Ralgapa1 A G 12: 55,776,191 (GRCm38) M280T possibly damaging Het
Rb1cc1 A T 1: 6,261,032 (GRCm38) E394D probably damaging Het
Seh1l T C 18: 67,789,390 (GRCm38) V271A probably benign Het
Sf3b1 A T 1: 54,997,156 (GRCm38) N919K probably benign Het
Sftpd A G 14: 41,174,492 (GRCm38) S245P possibly damaging Het
Slc22a15 T C 3: 101,924,114 (GRCm38) E2G probably damaging Het
Spta1 A G 1: 174,209,325 (GRCm38) D1134G possibly damaging Het
Syna A G 5: 134,558,961 (GRCm38) V378A probably damaging Het
Tescl T C 7: 24,333,531 (GRCm38) N123S probably benign Het
Trio C T 15: 27,824,090 (GRCm38) R1443Q probably damaging Het
Trrap A T 5: 144,790,855 (GRCm38) Y462F possibly damaging Het
Vmn1r78 A G 7: 12,152,905 (GRCm38) T148A probably benign Het
Vmn2r111 T C 17: 22,559,051 (GRCm38) N549S possibly damaging Het
Other mutations in Tchp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Tchp APN 5 114,708,733 (GRCm38) missense probably benign 0.00
R0266:Tchp UTSW 5 114,709,333 (GRCm38) missense possibly damaging 0.87
R0454:Tchp UTSW 5 114,720,182 (GRCm38) missense probably benign 0.02
R0709:Tchp UTSW 5 114,717,453 (GRCm38) missense probably damaging 1.00
R0725:Tchp UTSW 5 114,719,621 (GRCm38) missense probably benign 0.04
R2680:Tchp UTSW 5 114,709,519 (GRCm38) critical splice donor site probably null
R4604:Tchp UTSW 5 114,719,573 (GRCm38) splice site probably null
R4956:Tchp UTSW 5 114,719,620 (GRCm38) missense probably damaging 0.99
R6662:Tchp UTSW 5 114,720,015 (GRCm38) splice site probably null
R7002:Tchp UTSW 5 114,708,796 (GRCm38) missense probably benign 0.39
R7288:Tchp UTSW 5 114,715,569 (GRCm38) missense probably damaging 1.00
R7447:Tchp UTSW 5 114,715,655 (GRCm38) missense probably benign 0.00
R8021:Tchp UTSW 5 114,718,417 (GRCm38) missense probably damaging 1.00
R8066:Tchp UTSW 5 114,709,411 (GRCm38) missense probably benign 0.32
R8087:Tchp UTSW 5 114,719,604 (GRCm38) missense probably damaging 1.00
R8403:Tchp UTSW 5 114,708,766 (GRCm38) missense possibly damaging 0.87
R9053:Tchp UTSW 5 114,715,855 (GRCm38) missense probably benign 0.22
R9149:Tchp UTSW 5 114,721,123 (GRCm38) nonsense probably null
R9311:Tchp UTSW 5 114,708,816 (GRCm38) missense probably benign 0.02
R9436:Tchp UTSW 5 114,709,385 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GTGCTGGGGAGAAGTACTGTAC -3'
(R):5'- TTCCGGACTAGGGTAGTTACC -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- GGTAGTTACCAGCTTCCTCTG -3'
Posted On 2018-11-28