Incidental Mutation 'R5452:Tjap1'
ID 432605
Institutional Source Beutler Lab
Gene Symbol Tjap1
Ensembl Gene ENSMUSG00000012296
Gene Name tight junction associated protein 1
Synonyms Tjp4, 0610041D19Rik, Pilt
MMRRC Submission 042848-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R5452 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 46568777-46593952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46571101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 139 (T139A)
Ref Sequence ENSEMBL: ENSMUSP00000153632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012440] [ENSMUST00000095262] [ENSMUST00000164342] [ENSMUST00000180283] [ENSMUST00000224055] [ENSMUST00000225080] [ENSMUST00000225413] [ENSMUST00000225288] [ENSMUST00000225359] [ENSMUST00000224230] [ENSMUST00000224901] [ENSMUST00000225943]
AlphaFold Q9DCD5
Predicted Effect probably damaging
Transcript: ENSMUST00000012440
AA Change: T129A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000012440
Gene: ENSMUSG00000012296
AA Change: T129A

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 damaging
Transcript: ENSMUST00000164342
AA Change: T129A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130710
Gene: ENSMUSG00000012296
AA Change: T129A

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: T129A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137220
Gene: ENSMUSG00000012296
AA Change: T129A

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 noncoding transcript
Transcript: ENSMUST00000224090
Predicted Effect probably damaging
Transcript: ENSMUST00000225080
AA Change: T129A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000225413
AA Change: T139A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000225288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224404
Predicted Effect probably benign
Transcript: ENSMUST00000225359
Predicted Effect probably benign
Transcript: ENSMUST00000224230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224696
Predicted Effect probably benign
Transcript: ENSMUST00000224901
Predicted Effect probably benign
Transcript: ENSMUST00000225943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225915
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A T 8: 41,248,801 (GRCm39) I304F probably damaging Het
Adamts5 A G 16: 85,666,800 (GRCm39) probably benign Het
Akr1c6 A G 13: 4,504,544 (GRCm39) R132G probably benign Het
Ash1l T A 3: 88,892,183 (GRCm39) M1354K possibly damaging Het
C6 T C 15: 4,844,311 (GRCm39) I911T possibly damaging Het
Calm2 T C 17: 87,743,150 (GRCm39) probably null Het
Ccdc80 G A 16: 44,938,528 (GRCm39) R745Q probably damaging Het
Celsr3 T C 9: 108,721,233 (GRCm39) I2685T possibly damaging Het
Chkb T C 15: 89,313,788 (GRCm39) probably benign Het
Dennd5b T A 6: 148,943,011 (GRCm39) probably null Het
Dnah2 T C 11: 69,415,209 (GRCm39) Y175C probably damaging Het
Dnajc13 A G 9: 104,069,313 (GRCm39) S1154P probably benign Het
Ephb4 T C 5: 137,359,404 (GRCm39) S325P probably damaging Het
Fzd9 C T 5: 135,279,714 (GRCm39) R57H probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gm9949 A G 18: 62,313,587 (GRCm39) probably benign Het
Gnb4 A T 3: 32,643,994 (GRCm39) M188K probably benign Het
Hr G T 14: 70,794,067 (GRCm39) G109V probably damaging Het
Lrp1b A G 2: 40,812,328 (GRCm39) S2426P probably damaging Het
Map2k4 A G 11: 65,610,413 (GRCm39) W88R probably damaging Het
Map4 C T 9: 109,866,851 (GRCm39) probably benign Het
Moxd2 C T 6: 40,859,048 (GRCm39) probably null Het
Mrgprx1 T C 7: 47,671,556 (GRCm39) I64V probably benign Het
Mtrex T C 13: 113,049,715 (GRCm39) S232G probably null Het
Or5p68 A C 7: 107,945,312 (GRCm39) I292S probably damaging Het
Padi2 T C 4: 140,659,382 (GRCm39) F229S probably benign Het
Pappa2 T C 1: 158,666,172 (GRCm39) N1136S probably benign Het
Pcdhb1 A T 18: 37,398,811 (GRCm39) N254I possibly damaging Het
Plcb2 A G 2: 118,548,727 (GRCm39) Y400H probably damaging Het
Plce1 A C 19: 38,608,926 (GRCm39) T412P probably benign Het
Prg4 T C 1: 150,331,519 (GRCm39) probably benign Het
Prkdc A G 16: 15,586,501 (GRCm39) N2510S possibly damaging Het
Psme4 T A 11: 30,741,168 (GRCm39) S107T probably benign Het
Resf1 C A 6: 149,230,611 (GRCm39) S1219* probably null Het
Rint1 G T 5: 23,999,363 (GRCm39) A51S probably benign Het
Rsad1 T A 11: 94,434,515 (GRCm39) R306S probably damaging Het
Sema3c T G 5: 17,922,068 (GRCm39) probably null Het
Sirt3 G A 7: 140,444,928 (GRCm39) T290I probably damaging Het
Spam1 G A 6: 24,800,731 (GRCm39) G490D probably benign Het
Speer4f2 C T 5: 17,581,498 (GRCm39) R147W possibly damaging Het
Sppl2c A T 11: 104,078,126 (GRCm39) I309L probably benign Het
Srxn1 G A 2: 151,947,799 (GRCm39) V66M probably damaging Het
St3gal4 C T 9: 34,964,752 (GRCm39) R152H probably damaging Het
Sv2c A T 13: 96,114,591 (GRCm39) F532I probably damaging Het
Tacc1 C A 8: 25,654,431 (GRCm39) K705N probably null Het
Tekt3 G T 11: 62,985,619 (GRCm39) S475I probably damaging Het
Tnfrsf8 T A 4: 145,019,214 (GRCm39) K207M possibly damaging Het
Tnn T C 1: 159,937,831 (GRCm39) T965A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trmt2a A G 16: 18,068,814 (GRCm39) H270R probably damaging Het
Ttc21a T C 9: 119,780,037 (GRCm39) L448P probably benign Het
Ttll4 C A 1: 74,718,480 (GRCm39) N110K probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Tut7 A G 13: 59,948,471 (GRCm39) Y215H probably damaging Het
Ubr1 A G 2: 120,698,783 (GRCm39) Y1595H possibly damaging Het
Unc45a G A 7: 79,978,787 (GRCm39) P621S probably damaging Het
Xrn2 A T 2: 146,866,633 (GRCm39) probably null 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
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
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'- GGGACTTGTTGCACTTGAGAAG -3'
(R):5'- GAAATGCCGACCAAGTGTAC -3'

Sequencing Primer
(F):5'- TTGCACTTGAGAAGCTGCAC -3'
(R):5'- GAAATGCCGACCAAGTGTACTTCTG -3'
Posted On 2016-10-06