Incidental Mutation 'PIT4519001:Tjap1'
ID 555144
Institutional Source Beutler Lab
Gene Symbol Tjap1
Ensembl Gene ENSMUSG00000012296
Gene Name tight junction associated protein 1
Synonyms Tjp4, 0610041D19Rik, Pilt
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # PIT4519001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 46568777-46593952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 46572432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 68 (R68L)
Ref Sequence ENSEMBL: ENSMUSP00000012440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012440] [ENSMUST00000095262] [ENSMUST00000164342] [ENSMUST00000180283] [ENSMUST00000224055] [ENSMUST00000224230] [ENSMUST00000224901] [ENSMUST00000225080] [ENSMUST00000225288] [ENSMUST00000225359] [ENSMUST00000225413] [ENSMUST00000225943]
AlphaFold Q9DCD5
Predicted Effect probably benign
Transcript: ENSMUST00000012440
AA Change: R68L

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000012440
Gene: ENSMUSG00000012296
AA Change: R68L

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 benign
Transcript: ENSMUST00000095262
SMART Domains Protein: ENSMUSP00000092896
Gene: ENSMUSG00000071073

DomainStartEndE-ValueType
LRR 27 54 2.42e1 SMART
LRR 84 111 3.47e1 SMART
LRR 112 139 1.84e0 SMART
LRR 143 171 1.66e2 SMART
LRR 172 199 5.41e0 SMART
LRR 200 227 3.54e0 SMART
LRR 229 256 5.48e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164342
AA Change: R68L

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000130710
Gene: ENSMUSG00000012296
AA Change: R68L

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 benign
Transcript: ENSMUST00000180283
AA Change: R68L

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000137220
Gene: ENSMUSG00000012296
AA Change: R68L

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 benign
Transcript: ENSMUST00000224055
Predicted Effect probably benign
Transcript: ENSMUST00000224230
Predicted Effect probably benign
Transcript: ENSMUST00000224901
Predicted Effect probably benign
Transcript: ENSMUST00000225080
AA Change: R68L

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000225288
Predicted Effect probably benign
Transcript: ENSMUST00000225359
AA Change: R68L

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000225413
AA Change: R68L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000225943
AA Change: R68L

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 90.9%
  • 10x: 84.7%
  • 20x: 70.8%
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,217,440 (GRCm39) M803K probably benign Het
4930590J08Rik C A 6: 91,894,038 (GRCm39) N218K probably damaging Het
Abcc2 G A 19: 43,807,836 (GRCm39) V826M possibly damaging Het
Abcg2 T C 6: 58,651,792 (GRCm39) S395P probably damaging Het
Adam1b C T 5: 121,640,010 (GRCm39) G345D probably damaging Het
Alx4 T A 2: 93,505,773 (GRCm39) C292S probably benign Het
Amd2 C A 10: 35,586,627 (GRCm39) C310F possibly damaging Het
BC051665 A T 13: 60,931,989 (GRCm39) S137T possibly damaging Het
Bmp1 A G 14: 70,727,469 (GRCm39) F705L possibly damaging Het
Coil C T 11: 88,863,552 (GRCm39) probably benign Het
Col6a6 G A 9: 105,609,462 (GRCm39) P1609S probably benign Het
Cpt1b A T 15: 89,303,066 (GRCm39) F633I probably damaging Het
Dcun1d2 A T 8: 13,311,406 (GRCm39) D194E probably benign Het
Defb4 A G 8: 19,248,752 (GRCm39) R2G possibly damaging Het
Dll4 T C 2: 119,162,897 (GRCm39) V506A probably benign Het
Dop1b A G 16: 93,558,942 (GRCm39) S563G probably benign Het
Dpp7 C A 2: 25,242,460 (GRCm39) G498W probably damaging Het
Fam210a A T 18: 68,409,020 (GRCm39) S97T possibly damaging Het
Fastkd1 T A 2: 69,520,501 (GRCm39) D767V probably damaging Het
Fgg A T 3: 82,920,246 (GRCm39) N342Y probably damaging Het
Gimap6 T G 6: 48,684,995 (GRCm39) R30S probably benign Het
Gm10840 T C 11: 106,051,959 (GRCm39) V95A unknown Het
Herc3 T A 6: 58,853,796 (GRCm39) I614N probably damaging Het
Kdr A T 5: 76,097,556 (GRCm39) S1233R possibly damaging Het
Lrp1 C G 10: 127,443,843 (GRCm39) Q141H possibly damaging Het
Magi2 A T 5: 20,866,344 (GRCm39) K1078N probably damaging Het
Meioc A T 11: 102,570,783 (GRCm39) E838V probably damaging Het
Mmp20 A G 9: 7,628,302 (GRCm39) K17E probably benign Het
Mtor C T 4: 148,608,957 (GRCm39) R1538W probably damaging Het
Notch2 C T 3: 98,005,424 (GRCm39) T296I probably damaging Het
Nup98 T C 7: 101,784,171 (GRCm39) S1054G probably benign Het
Or10ac1 T C 6: 42,515,534 (GRCm39) T141A probably damaging Het
Or2a12 T C 6: 42,904,578 (GRCm39) C138R probably damaging Het
Or5b109 A C 19: 13,212,216 (GRCm39) I201L probably benign Het
Or6f1 T C 7: 85,970,941 (GRCm39) Y73C probably damaging Het
Pipox C A 11: 77,774,001 (GRCm39) W205L probably damaging Het
Plin4 T G 17: 56,410,828 (GRCm39) T1068P probably benign Het
Pou6f2 A G 13: 18,414,149 (GRCm39) S209P unknown Het
Ptpdc1 T C 13: 48,736,632 (GRCm39) T713A probably benign Het
Rgsl1 T C 1: 153,701,716 (GRCm39) Y246C possibly damaging Het
Rnf19b C T 4: 128,969,446 (GRCm39) A354V probably damaging Het
Rsph4a A G 10: 33,785,126 (GRCm39) T346A probably benign Het
Rsrc2 T C 5: 123,883,135 (GRCm39) T16A unknown Het
Scrn3 T C 2: 73,148,768 (GRCm39) V113A possibly damaging Het
Scrn3 T A 2: 73,161,347 (GRCm39) I311K possibly damaging Het
Sfmbt1 T C 14: 30,506,148 (GRCm39) probably null Het
Sin3a A G 9: 57,002,740 (GRCm39) I211V possibly damaging Het
Strn3 T C 12: 51,680,491 (GRCm39) T370A probably benign Het
Sulf1 T G 1: 12,918,395 (GRCm39) N786K probably damaging Het
Taf1b T A 12: 24,597,118 (GRCm39) Y352* probably null Het
Tas2r120 T A 6: 132,634,297 (GRCm39) N126K probably benign Het
Tnfsf12 C T 11: 69,586,230 (GRCm39) R66Q probably benign Het
Traj45 A G 14: 54,410,303 (GRCm39) D6G Het
Trappc9 T C 15: 72,824,943 (GRCm39) T541A probably benign Het
Ttc29 A C 8: 79,052,106 (GRCm39) E329A probably benign Het
Vmn1r117 T G 7: 20,617,160 (GRCm39) D296A possibly damaging Het
Vmn1r203 A G 13: 22,708,765 (GRCm39) N182S probably benign Het
Vps53 C A 11: 76,007,999 (GRCm39) R287L probably damaging Het
Vwce G A 19: 10,641,946 (GRCm39) E891K possibly damaging Het
Zfp608 T C 18: 55,079,783 (GRCm39) N334S possibly damaging Het
Zfp648 A G 1: 154,080,687 (GRCm39) H282R probably damaging Het
Other mutations in Tjap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
I0000:Tjap1 UTSW 17 46,569,955 (GRCm39) missense probably damaging 1.00
R0087:Tjap1 UTSW 17 46,574,652 (GRCm39) missense probably damaging 1.00
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'- CTCCTTCCAAGATCTGGGTTAC -3'
(R):5'- CCTAGACTGAGCCTAAAGGGAC -3'

Sequencing Primer
(F):5'- TCTGGGTTACTAAATAAAGTCAGGG -3'
(R):5'- TGAGCCTAAAGGGACCCACTTG -3'
Posted On 2019-06-07