Incidental Mutation 'R1885:Tjap1'
ID 209494
Institutional Source Beutler Lab
Gene Symbol Tjap1
Ensembl Gene ENSMUSG00000012296
Gene Name tight junction associated protein 1
Synonyms Tjp4, 0610041D19Rik, Pilt
MMRRC Submission 039906-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R1885 (G1)
Quality Score 88
Status Not validated
Chromosome 17
Chromosomal Location 46568777-46593952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46573347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 37 (T37A)
Ref Sequence ENSEMBL: ENSMUSP00000153561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012440] [ENSMUST00000164342] [ENSMUST00000180283] [ENSMUST00000224055] [ENSMUST00000224230] [ENSMUST00000225359] [ENSMUST00000225288] [ENSMUST00000225943] [ENSMUST00000224901] [ENSMUST00000225080] [ENSMUST00000225413]
AlphaFold Q9DCD5
Predicted Effect possibly damaging
Transcript: ENSMUST00000012440
AA Change: T37A

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000012440
Gene: ENSMUSG00000012296
AA Change: T37A

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 possibly damaging
Transcript: ENSMUST00000164342
AA Change: T37A

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130710
Gene: ENSMUSG00000012296
AA Change: T37A

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 possibly damaging
Transcript: ENSMUST00000180283
AA Change: T37A

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137220
Gene: ENSMUSG00000012296
AA Change: T37A

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: T37A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224090
Predicted Effect probably damaging
Transcript: ENSMUST00000224230
AA Change: T37A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224404
Predicted Effect probably damaging
Transcript: ENSMUST00000225359
AA Change: T37A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000225288
AA Change: T37A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000225943
AA Change: T37A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect unknown
Transcript: ENSMUST00000224901
AA Change: T37A
Predicted Effect possibly damaging
Transcript: ENSMUST00000225080
AA Change: T37A

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225413
AA Change: T37A

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224696
Coding Region Coverage
  • 1x: 97.0%
  • 3x: 96.1%
  • 10x: 92.7%
  • 20x: 85.1%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik T A 9: 108,270,809 (GRCm39) D124E possibly damaging Het
Aarsd1 T C 11: 101,302,227 (GRCm39) T278A probably benign Het
Acox2 C T 14: 8,248,102 (GRCm38) M393I probably benign Het
Adcy10 A G 1: 165,398,377 (GRCm39) I1491M probably benign Het
Adcy3 T A 12: 4,184,951 (GRCm39) V209E probably damaging Het
Adora3 A C 3: 105,812,152 (GRCm39) N13H possibly damaging Het
Ap2b1 T A 11: 83,281,561 (GRCm39) N822K probably damaging Het
Apobec3 A T 15: 79,781,906 (GRCm39) H82L probably damaging Het
Atg9b A T 5: 24,593,252 (GRCm39) W384R probably damaging Het
Atp8a1 A G 5: 67,904,661 (GRCm39) V506A possibly damaging Het
Atxn1 G T 13: 45,721,280 (GRCm39) A205D probably benign Het
B4galnt3 T C 6: 120,200,601 (GRCm39) E223G probably damaging Het
Brip1 C A 11: 86,029,641 (GRCm39) G631V probably damaging Het
Cacna1i A G 15: 80,243,145 (GRCm39) E434G probably damaging Het
Caprin2 A T 6: 148,779,383 (GRCm39) probably null Het
Cblif G A 19: 11,729,688 (GRCm39) A216T probably benign Het
Ccdc80 A C 16: 44,917,083 (GRCm39) D613A probably benign Het
Ccdc81 T C 7: 89,515,819 (GRCm39) E620G possibly damaging Het
Cdhr18 A C 14: 13,828,607 (GRCm38) Y718D probably damaging Het
Cebpz A T 17: 79,239,545 (GRCm39) D625E probably benign Het
Coq6 C A 12: 84,419,238 (GRCm39) N388K probably damaging Het
Cracd A G 5: 77,004,589 (GRCm39) T317A unknown Het
D430041D05Rik T C 2: 104,060,800 (GRCm39) M1365V probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dap3 A G 3: 88,838,281 (GRCm39) L86P probably damaging Het
Dpysl4 T G 7: 138,676,723 (GRCm39) V391G probably damaging Het
Dyrk4 G T 6: 126,854,144 (GRCm39) Q550K probably benign Het
Epas1 A G 17: 87,112,723 (GRCm39) D107G probably damaging Het
Esrp2 A G 8: 106,858,453 (GRCm39) V636A possibly damaging Het
Etl4 T A 2: 20,748,795 (GRCm39) Y176N probably damaging Het
Etnppl T C 3: 130,423,111 (GRCm39) V264A probably benign Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fer T A 17: 64,445,909 (GRCm39) V790D probably damaging Het
Gdpd5 G A 7: 99,109,204 (GRCm39) V575I probably benign Het
Gfus G T 15: 75,798,838 (GRCm39) T123N possibly damaging Het
Gipc3 T C 10: 81,177,181 (GRCm39) I130V probably benign Het
Iqsec3 G A 6: 121,405,326 (GRCm39) probably benign Het
Kdm5d G T Y: 940,781 (GRCm39) probably null Het
Kl A G 5: 150,876,959 (GRCm39) R260G possibly damaging Het
Kras T C 6: 145,177,843 (GRCm39) E143G probably damaging Het
Ksr1 T C 11: 78,927,347 (GRCm39) T329A probably damaging Het
Ksr1 C A 11: 78,911,204 (GRCm39) V11F probably null Het
Marchf6 A G 15: 31,502,952 (GRCm39) V83A probably benign Het
Mettl2 T C 11: 105,022,446 (GRCm39) I212T possibly damaging Het
Mgat3 A G 15: 80,095,820 (GRCm39) I216V probably benign Het
Mkrn3 G A 7: 62,068,486 (GRCm39) A435V probably benign Het
Mlh1 C A 9: 111,087,624 (GRCm39) S24I probably benign Het
Mmel1 G A 4: 154,975,333 (GRCm39) R424Q possibly damaging Het
Mob3a G A 10: 80,527,068 (GRCm39) Q86* probably null Het
Myh3 A G 11: 66,977,453 (GRCm39) K368E probably benign Het
Myo16 T A 8: 10,372,656 (GRCm39) N118K probably damaging Het
Myo5c A G 9: 75,157,043 (GRCm39) S160G probably damaging Het
Nat1 A T 8: 67,943,653 (GRCm39) I13F probably damaging Het
Ncoa7 T C 10: 30,524,448 (GRCm39) N823S possibly damaging Het
Nwd1 T C 8: 73,431,622 (GRCm39) S1207P probably benign Het
Or2y17 T C 11: 49,231,662 (GRCm39) L101P probably damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5p57 T C 7: 107,665,985 (GRCm39) N7D probably benign Het
Or5w22 T C 2: 87,363,168 (GRCm39) S264P probably damaging Het
Paqr8 A T 1: 21,005,704 (GRCm39) H286L probably damaging Het
Pdzd4 G A X: 72,839,052 (GRCm39) R419C probably damaging Het
Pes1 A G 11: 3,919,482 (GRCm39) K52E probably damaging Het
Ppp1r13l T C 7: 19,111,496 (GRCm39) S774P probably damaging Het
Robo2 T C 16: 73,713,033 (GRCm39) D1283G probably benign Het
Rp1l1 T C 14: 64,265,839 (GRCm39) V475A probably benign Het
Scml4 A G 10: 42,788,223 (GRCm39) Y51C probably damaging Het
Skic3 A T 13: 76,261,166 (GRCm39) R112S probably benign Het
Skic3 A G 13: 76,278,354 (GRCm39) Q556R probably benign Het
Slc2a4 C T 11: 69,835,833 (GRCm39) V339I probably benign Het
Slc39a6 G A 18: 24,734,539 (GRCm39) probably null Het
Slco1b2 A T 6: 141,628,951 (GRCm39) Y551F probably damaging Het
Snx33 T C 9: 56,833,121 (GRCm39) H316R probably benign Het
Spata31d1a T G 13: 59,849,821 (GRCm39) D769A probably damaging Het
Stmn2 A T 3: 8,606,964 (GRCm39) E28V probably damaging Het
Syt9 A G 7: 107,035,736 (GRCm39) D251G probably damaging Het
Tmc7 A T 7: 118,160,310 (GRCm39) F176I possibly damaging Het
Tprg1 A G 16: 25,231,641 (GRCm39) T206A probably benign Het
Ubqlnl A T 7: 103,799,272 (GRCm39) M75K possibly damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Vmn2r12 C T 5: 109,239,942 (GRCm39) G207E probably damaging Het
Xrn2 T G 2: 146,891,281 (GRCm39) L697* probably null Het
Zfp764 A G 7: 127,004,211 (GRCm39) F307L probably benign Het
Zfp804b T C 5: 6,820,376 (GRCm39) R860G probably damaging Het
Zranb2 A T 3: 157,248,793 (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
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'- AGTGTATGGTTCTAACTGCAGG -3'
(R):5'- TCCCCTTTGAAGATGGCTTTAGG -3'

Sequencing Primer
(F):5'- TATGGTTCTAACTGCAGGTCACAGC -3'
(R):5'- CCTTTGAAGATGGCTTTAGGATTAAG -3'
Posted On 2014-06-30