Incidental Mutation 'R9053:Tchp'
ID 688505
Institutional Source Beutler Lab
Gene Symbol Tchp
Ensembl Gene ENSMUSG00000002486
Gene Name trichoplein, keratin filament binding
Synonyms A930031F18Rik
MMRRC Submission 068879-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9053 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 114845821-114860388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114853916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 277 (Y277F)
Ref Sequence ENSEMBL: ENSMUSP00000092009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094441]
AlphaFold Q3TVW5
Predicted Effect probably benign
Transcript: ENSMUST00000094441
AA Change: Y277F

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000092009
Gene: ENSMUSG00000002486
AA Change: Y277F

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
Predicted Effect
SMART Domains Protein: ENSMUSP00000119890
Gene: ENSMUSG00000002486
AA Change: Y77F

DomainStartEndE-ValueType
low complexity region 15 39 N/A INTRINSIC
Pfam:TPH 50 215 1.5e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat3 A G 17: 13,147,402 (GRCm39) V205A probably damaging Het
Acp7 A G 7: 28,316,616 (GRCm39) F120L possibly damaging Het
Adh4 T C 3: 138,128,045 (GRCm39) V157A probably damaging Het
Ahsa2 T C 11: 23,443,314 (GRCm39) E146G probably benign Het
Ank3 T C 10: 69,822,389 (GRCm39) S353P Het
Apob T C 12: 8,058,954 (GRCm39) S2479P possibly damaging Het
Arhgef37 A G 18: 61,641,760 (GRCm39) L203P probably damaging Het
Arpp21 T A 9: 111,984,583 (GRCm39) N265I possibly damaging Het
Cfap20dc T C 14: 8,518,768 (GRCm38) probably null Het
Dagla G A 19: 10,246,615 (GRCm39) R162C probably damaging Het
Ddx18 T C 1: 121,489,135 (GRCm39) D304G probably damaging Het
Dnah3 A T 7: 119,618,987 (GRCm39) L1638Q possibly damaging Het
Dnah6 T A 6: 73,061,640 (GRCm39) N2815I possibly damaging Het
Dnajc16 T C 4: 141,510,371 (GRCm39) D94G probably benign Het
Epor G T 9: 21,870,655 (GRCm39) D408E probably benign Het
Erbb4 T C 1: 68,289,779 (GRCm39) N754S possibly damaging Het
Etaa1 A G 11: 17,895,798 (GRCm39) I773T probably benign Het
Fat4 T A 3: 38,941,324 (GRCm39) Y72* probably null Het
Fbxw18 T G 9: 109,517,491 (GRCm39) D404A probably benign Het
Flot1 T A 17: 36,140,859 (GRCm39) V283E probably damaging Het
Gm5145 G T 17: 20,791,194 (GRCm39) G191W probably damaging Het
Gpr161 G A 1: 165,134,166 (GRCm39) probably benign Het
Helz C A 11: 107,563,761 (GRCm39) Q1734K unknown Het
Hycc1 A G 5: 24,184,579 (GRCm39) C300R possibly damaging Het
Ints1 A G 5: 139,747,822 (GRCm39) V1195A possibly damaging Het
Khdc4 T A 3: 88,596,582 (GRCm39) L121Q probably damaging Het
Kmt2a T A 9: 44,732,716 (GRCm39) T2534S unknown Het
Lingo3 T C 10: 80,670,821 (GRCm39) N370D probably benign Het
Lrp1b A G 2: 40,748,501 (GRCm39) V3113A Het
Mthfs C T 9: 89,097,454 (GRCm39) L104F probably damaging Het
Nlgn1 A T 3: 25,488,607 (GRCm39) V576D probably damaging Het
Nlrc5 A G 8: 95,217,013 (GRCm39) R1001G probably benign Het
Obscn C T 11: 58,972,636 (GRCm39) A2137T probably benign Het
Ociad1 T A 5: 73,460,951 (GRCm39) H70Q probably damaging Het
Opa1 T A 16: 29,404,836 (GRCm39) C11* probably null Het
Or4a76 A G 2: 89,461,161 (GRCm39) V27A probably benign Het
Parp10 T C 15: 76,125,964 (GRCm39) E408G possibly damaging Het
Pcdhb19 G A 18: 37,631,143 (GRCm39) E313K probably benign Het
Pmel G T 10: 128,551,918 (GRCm39) A251S probably benign Het
Polr3d G T 14: 70,678,153 (GRCm39) P181T probably damaging Het
Prmt3 A T 7: 49,430,104 (GRCm39) H69L probably damaging Het
Rc3h2 A T 2: 37,289,628 (GRCm39) Y395N possibly damaging Het
Rubcnl A T 14: 75,269,717 (GRCm39) N125I possibly damaging Het
Shprh T C 10: 11,030,446 (GRCm39) F221S probably benign Het
Skint5 A T 4: 113,403,684 (GRCm39) S1179R unknown Het
Skint6 C A 4: 113,095,347 (GRCm39) G104V probably damaging Het
Slc44a3 T C 3: 121,320,839 (GRCm39) Y54C probably damaging Het
Sp140 TTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT 1: 85,572,290 (GRCm39) probably benign Het
Spag5 A T 11: 78,212,575 (GRCm39) I1137F probably benign Het
Tdrd12 A C 7: 35,204,468 (GRCm39) L267W probably damaging Het
Tfcp2 A T 15: 100,396,092 (GRCm39) I107N Het
Vmn1r9 T C 6: 57,048,513 (GRCm39) V196A probably benign Het
Vmn2r62 T A 7: 42,413,920 (GRCm39) D841V Het
Zzef1 G T 11: 72,813,302 (GRCm39) R2901L probably benign Het
Other mutations in Tchp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Tchp APN 5 114,846,794 (GRCm39) missense probably benign 0.00
R0266:Tchp UTSW 5 114,847,394 (GRCm39) missense possibly damaging 0.87
R0454:Tchp UTSW 5 114,858,243 (GRCm39) missense probably benign 0.02
R0709:Tchp UTSW 5 114,855,514 (GRCm39) missense probably damaging 1.00
R0725:Tchp UTSW 5 114,857,682 (GRCm39) missense probably benign 0.04
R2680:Tchp UTSW 5 114,847,580 (GRCm39) critical splice donor site probably null
R4604:Tchp UTSW 5 114,857,634 (GRCm39) splice site probably null
R4956:Tchp UTSW 5 114,857,681 (GRCm39) missense probably damaging 0.99
R6662:Tchp UTSW 5 114,858,076 (GRCm39) splice site probably null
R6945:Tchp UTSW 5 114,847,411 (GRCm39) missense possibly damaging 0.76
R7002:Tchp UTSW 5 114,846,857 (GRCm39) missense probably benign 0.39
R7288:Tchp UTSW 5 114,853,630 (GRCm39) missense probably damaging 1.00
R7447:Tchp UTSW 5 114,853,716 (GRCm39) missense probably benign 0.00
R8021:Tchp UTSW 5 114,856,478 (GRCm39) missense probably damaging 1.00
R8066:Tchp UTSW 5 114,847,472 (GRCm39) missense probably benign 0.32
R8087:Tchp UTSW 5 114,857,665 (GRCm39) missense probably damaging 1.00
R8403:Tchp UTSW 5 114,846,827 (GRCm39) missense possibly damaging 0.87
R9149:Tchp UTSW 5 114,859,184 (GRCm39) nonsense probably null
R9311:Tchp UTSW 5 114,846,877 (GRCm39) missense probably benign 0.02
R9436:Tchp UTSW 5 114,847,446 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTGTTGTAACCACAGGCAAC -3'
(R):5'- TGTTGTGAAAGGGACCGTGC -3'

Sequencing Primer
(F):5'- CAGAGCTGGGGTGAGTCG -3'
(R):5'- ACCGTGCTGCAAGCTCC -3'
Posted On 2021-11-19