Mutagenetix > Incidental Mutation

Incidental Mutation 'I0000:Tjap1'

7837

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: 0.202) question?

Stock #

I0000 (G3) of strain 635

Quality Score

Status

Validated

Chromosome

Chromosomal Location

46568777-46593952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46569955 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Cysteine to Tyrosine at position 345 (C345Y)

Ref Sequence

ENSEMBL: ENSMUSP00000153632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012440] [ENSMUST00000095262] [ENSMUST00000164342] [ENSMUST00000180283] [ENSMUST00000224055] [ENSMUST00000224230] [ENSMUST00000225080] [ENSMUST00000225413] [ENSMUST00000224901] [ENSMUST00000225288] [ENSMUST00000225359] [ENSMUST00000225943]

AlphaFold

Q9DCD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000012440
AA Change: C335Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000012440
Gene: ENSMUSG00000012296
AA Change: C335Y

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: C335Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130710
Gene: ENSMUSG00000012296
AA Change: C335Y

Domain	Start	End	E-Value	Type
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: C335Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137220
Gene: ENSMUSG00000012296
AA Change: C335Y

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000224230

Predicted Effect

probably damaging
Transcript: ENSMUST00000225080
AA Change: C335Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225413
AA Change: C345Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000224901

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224696

Predicted Effect

probably benign
Transcript: ENSMUST00000225288

Predicted Effect

probably benign
Transcript: ENSMUST00000225359

Predicted Effect

probably benign
Transcript: ENSMUST00000225943

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225915

Meta Mutation Damage Score

0.2903

Coding Region Coverage

1x: 90.9%
3x: 86.6%

Validation Efficiency

67% (62/92)

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,376,716 (GRCm39)	V1933A	probably damaging	Het
Acsm4	T	A	7: 119,310,415 (GRCm39)	F467I	probably damaging	Het
Ankrd55	A	T	13: 112,485,259 (GRCm39)		probably benign	Het
Bfsp1	T	C	2: 143,687,888 (GRCm39)	Y179C	probably damaging	Het
Ccdc61	A	G	7: 18,637,474 (GRCm39)	I51T	probably damaging	Het
Ccdc81	A	G	7: 89,547,259 (GRCm39)	L43P	probably damaging	Het
Ddias	A	G	7: 92,515,848 (GRCm39)	V15A	possibly damaging	Het
Dpp6	A	T	5: 27,603,920 (GRCm39)	T62S	probably benign	Het
Ereg	G	A	5: 91,237,068 (GRCm39)	C129Y	probably benign	Het
Fras1	G	A	5: 96,888,688 (GRCm39)	G2745S	probably damaging	Het
Gzf1	C	T	2: 148,528,540 (GRCm39)		probably benign	Het
Herc2	T	A	7: 55,786,477 (GRCm39)		probably benign	Het
Hsd17b4	A	G	18: 50,293,295 (GRCm39)	D278G	probably benign	Homo
Ifitm3	A	G	7: 140,590,441 (GRCm39)	S40P	possibly damaging	Het
Klf5	C	T	14: 99,540,911 (GRCm39)	T307M	probably damaging	Homo
Lnpep	A	T	17: 17,799,233 (GRCm39)	C141S	probably damaging	Homo
Mmp19	A	T	10: 128,634,329 (GRCm39)	D362V	probably benign	Het
Or4a72	T	C	2: 89,405,497 (GRCm39)	Y191C	probably damaging	Het
Pnpla6	G	A	8: 3,592,322 (GRCm39)	A1222T	probably benign	Het
Rbm26	C	A	14: 105,391,003 (GRCm39)	R161L	unknown	Homo
Selenon	G	A	4: 134,270,012 (GRCm39)		probably benign	Het
Septin11	A	G	5: 93,313,118 (GRCm39)	T322A	probably benign	Het
Sh3bp4	T	A	1: 89,065,518 (GRCm39)	D37E	probably benign	Het
Tango2	G	A	16: 18,130,530 (GRCm39)	R80W	possibly damaging	Homo
Wdr62	T	C	7: 29,944,752 (GRCm39)	D455G	probably benign	Het
Zbtb48	A	G	4: 152,104,315 (GRCm39)	I671T	probably benign	Het
Zfp318	T	C	17: 46,710,485 (GRCm39)	L736P	probably damaging	Homo

Other mutations in Tjap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-11-05