Incidental Mutation 'R0087:Tjap1'
ID 19983
Institutional Source Beutler Lab
Gene Symbol Tjap1
Ensembl Gene ENSMUSG00000012296
Gene Name tight junction associated protein 1
Synonyms Tjp4, 0610041D19Rik, Pilt
MMRRC Submission 038374-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R0087 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 17
Chromosomal Location 46568777-46593952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46574652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 21 (L21P)
Ref Sequence ENSEMBL: ENSMUSP00000153022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012440] [ENSMUST00000164342] [ENSMUST00000180283] [ENSMUST00000224055] [ENSMUST00000224230] [ENSMUST00000225288] [ENSMUST00000225359] [ENSMUST00000225943] [ENSMUST00000224901] [ENSMUST00000225080] [ENSMUST00000225413]
AlphaFold Q9DCD5
Predicted Effect probably damaging
Transcript: ENSMUST00000012440
AA Change: L21P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000012440
Gene: ENSMUSG00000012296
AA Change: L21P

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
SCOP:d1fxkc_ 28 158 6e-3 SMART
low complexity region 204 215 N/A INTRINSIC
Pfam:Pilt 256 450 3.7e-83 PFAM
Pfam:Pilt 441 538 5.4e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164342
AA Change: L21P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130710
Gene: ENSMUSG00000012296
AA Change: L21P

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
SCOP:d1fxkc_ 28 158 6e-3 SMART
low complexity region 204 215 N/A INTRINSIC
Pfam:Pilt 262 447 1.5e-59 PFAM
Pfam:Pilt 442 538 1.1e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000180283
AA Change: L21P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137220
Gene: ENSMUSG00000012296
AA Change: L21P

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
SCOP:d1fxkc_ 28 158 6e-3 SMART
low complexity region 204 215 N/A INTRINSIC
Pfam:Pilt 256 450 3.7e-83 PFAM
Pfam:Pilt 441 538 5.4e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000224055
AA Change: L21P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224090
Predicted Effect probably damaging
Transcript: ENSMUST00000224230
AA Change: L21P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000225288
AA Change: L21P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225359
AA Change: L21P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225943
AA Change: L21P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000224901
AA Change: L21P
Predicted Effect probably damaging
Transcript: ENSMUST00000225080
AA Change: L21P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000225413
AA Change: L21P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224404
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224696
Meta Mutation Damage Score 0.0836 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.5%
  • 20x: 82.3%
Validation Efficiency 86% (59/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tight junction-associated protein. Incorporation of the encoded protein into tight junctions occurs at a late stage of formation of the junctions. The encoded protein localizes to the Golgi and may function in vesicle trafficking. Alternatively spliced transcript variants have been described. A related pseudogene exists on the X chromosome. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Adgrv1 T A 13: 81,535,070 (GRCm39) I5732F probably damaging Het
Adss2 A T 1: 177,598,788 (GRCm39) V330E probably benign Het
Agps T A 2: 75,739,979 (GRCm39) Y488N probably damaging Het
Ap3s1 A T 18: 46,891,106 (GRCm39) R66S probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atp2a2 C T 5: 122,599,024 (GRCm39) V593I probably benign Het
Chrna6 C T 8: 27,897,014 (GRCm39) V288M probably damaging Het
Col4a2 C T 8: 11,491,296 (GRCm39) L1232F probably benign Het
Dcaf1 A G 9: 106,740,288 (GRCm39) N1225D probably damaging Het
Degs1 A G 1: 182,106,875 (GRCm39) I128T probably benign Het
Dnaaf11 T C 15: 66,341,824 (GRCm39) T91A probably benign Het
Dnah5 A T 15: 28,350,759 (GRCm39) T2594S probably damaging Het
Dnah8 G T 17: 30,974,093 (GRCm39) R2826L probably damaging Het
Elf3 A G 1: 135,184,875 (GRCm39) Y104H probably damaging Het
Fam222b C A 11: 78,044,718 (GRCm39) T93N probably benign Het
Fbxw26 A G 9: 109,554,006 (GRCm39) I211T probably benign Het
Fcho2 T C 13: 98,871,594 (GRCm39) T541A probably benign Het
Flg2 T C 3: 93,109,738 (GRCm39) S589P unknown Het
Foxj3 T A 4: 119,483,597 (GRCm39) V589E unknown Het
Gria1 A G 11: 57,208,538 (GRCm39) Y742C probably damaging Het
Inpp5d T C 1: 87,642,860 (GRCm39) S672P probably damaging Het
Lrrc19 A C 4: 94,529,009 (GRCm39) F91C probably damaging Het
Mppe1 A G 18: 67,358,775 (GRCm39) *398R probably null Het
Mroh3 T C 1: 136,118,541 (GRCm39) I561V probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Nbea G T 3: 55,998,444 (GRCm39) T121K possibly damaging Het
Nbr1 A C 11: 101,455,519 (GRCm39) D91A probably benign Het
Ncam2 C A 16: 81,231,789 (GRCm39) N84K probably benign Het
Or4c35 T C 2: 89,808,475 (GRCm39) Y118H probably damaging Het
Or51ac3 A T 7: 103,213,569 (GRCm39) C306S probably benign Het
Or52h9 A G 7: 104,202,869 (GRCm39) I248V possibly damaging Het
Or52z13 A G 7: 103,246,928 (GRCm39) Y135C probably benign Het
Or6b6 A G 7: 106,571,323 (GRCm39) V76A probably benign Het
Pdgfrb A T 18: 61,194,585 (GRCm39) I121F probably damaging Het
Peak1 A T 9: 56,165,609 (GRCm39) I773N probably damaging Het
Pfkfb4 G T 9: 108,836,769 (GRCm39) V155F probably damaging Het
Pkm C T 9: 59,585,382 (GRCm39) R455* probably null Het
Plbd2 C A 5: 120,632,550 (GRCm39) E151* probably null Het
Pld5 G A 1: 175,812,025 (GRCm39) T353M probably damaging Het
Psme2b A T 11: 48,836,544 (GRCm39) D134E possibly damaging Het
Rida T A 15: 34,488,772 (GRCm39) D40V possibly damaging Het
Rnf126 A T 10: 79,595,068 (GRCm39) H265Q probably damaging Het
Rock2 C A 12: 16,978,967 (GRCm39) Q86K probably benign Het
Serpinb1b A T 13: 33,269,302 (GRCm39) T12S probably benign Het
Slco6c1 T A 1: 97,046,303 (GRCm39) Q277L probably benign Het
Spmap2 A T 10: 79,421,785 (GRCm39) Y144* probably null Het
Sptlc2 T A 12: 87,415,892 (GRCm39) H45L probably benign Het
Srsf4 A G 4: 131,627,641 (GRCm39) probably benign Het
Sspo A G 6: 48,454,719 (GRCm39) S2969G probably damaging Het
Steap1 C T 5: 5,786,664 (GRCm39) G258R probably damaging Het
Stk19 A T 17: 35,055,851 (GRCm39) M1K probably null Het
Stk-ps2 C A 1: 46,069,049 (GRCm39) noncoding transcript Het
Taf1c C T 8: 120,327,726 (GRCm39) R332H probably damaging Het
Thbs4 T A 13: 92,891,743 (GRCm39) T791S probably damaging Het
Tmem145 A G 7: 25,007,268 (GRCm39) Y148C probably damaging Het
Tmem267 T A 13: 120,070,810 (GRCm39) V155E probably benign Het
Tns1 T A 1: 73,956,076 (GRCm39) H549L possibly damaging Het
Tyro3 T G 2: 119,632,182 (GRCm39) I83S probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn1r53 A T 6: 90,200,413 (GRCm39) C304S probably benign Het
Vwf G A 6: 125,622,917 (GRCm39) M1761I probably benign Het
Zfp276 T C 8: 123,991,786 (GRCm39) Y445H probably damaging Het
Zfp407 A T 18: 84,578,536 (GRCm39) I859N probably damaging Het
Other mutations in Tjap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
I0000:Tjap1 UTSW 17 46,569,955 (GRCm39) missense probably damaging 1.00
PIT4519001:Tjap1 UTSW 17 46,572,432 (GRCm39) missense probably benign 0.09
R0930:Tjap1 UTSW 17 46,569,455 (GRCm39) missense possibly damaging 0.94
R1513:Tjap1 UTSW 17 46,572,368 (GRCm39) missense probably benign 0.01
R1885:Tjap1 UTSW 17 46,573,347 (GRCm39) missense probably damaging 1.00
R2518:Tjap1 UTSW 17 46,571,021 (GRCm39) missense probably damaging 1.00
R4523:Tjap1 UTSW 17 46,569,718 (GRCm39) missense probably benign
R4552:Tjap1 UTSW 17 46,570,953 (GRCm39) splice site probably null
R5452:Tjap1 UTSW 17 46,571,101 (GRCm39) missense probably damaging 0.99
R5590:Tjap1 UTSW 17 46,569,797 (GRCm39) missense probably damaging 1.00
R6600:Tjap1 UTSW 17 46,570,924 (GRCm39) missense probably damaging 1.00
R7015:Tjap1 UTSW 17 46,574,700 (GRCm39) missense possibly damaging 0.87
R7790:Tjap1 UTSW 17 46,569,616 (GRCm39) missense probably benign 0.00
R8353:Tjap1 UTSW 17 46,593,530 (GRCm39) intron probably benign
R9513:Tjap1 UTSW 17 46,569,733 (GRCm39) missense probably damaging 1.00
R9661:Tjap1 UTSW 17 46,571,092 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAATGTGAGTCTCTCGCCTTAACCC -3'
(R):5'- TCTAATGACCCAGCGGTAGCTCAG -3'

Sequencing Primer
(F):5'- GCCTTAACCCATGCCCAG -3'
(R):5'- gtagagaaagggatggcgg -3'
Posted On 2013-04-11