Mutagenetix > Incidental Mutation

Incidental Mutation 'R0930:Tjap1'

80832

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 #

R0930 (G1)

Quality Score

188

Status

Not validated

Chromosome

Chromosomal Location

46568777-46593952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 46569455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 512 (W512G)

Ref Sequence

ENSEMBL: ENSMUSP00000153632 (fasta)

Gene Model

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

AlphaFold

Q9DCD5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000012440
AA Change: W502G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000012440
Gene: ENSMUSG00000012296
AA Change: W502G

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

possibly damaging
Transcript: ENSMUST00000164342
AA Change: W502G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130710
Gene: ENSMUSG00000012296
AA Change: W502G

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

possibly damaging
Transcript: ENSMUST00000180283
AA Change: W502G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137220
Gene: ENSMUSG00000012296
AA Change: W502G

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

probably benign
Transcript: ENSMUST00000224230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224404

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225080
AA Change: W502G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225413
AA Change: W512G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000225943

Predicted Effect

probably benign
Transcript: ENSMUST00000225359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224696

Predicted Effect

probably benign
Transcript: ENSMUST00000225288

Predicted Effect

probably benign
Transcript: ENSMUST00000224901

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.5%

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	G	T	17: 84,990,705 (GRCm39)	V16L	probably benign	Het
Adamts18	A	T	8: 114,432,028 (GRCm39)		probably null	Het
Agpat4	A	T	17: 12,417,723 (GRCm39)	E88V	probably damaging	Het
Ahcyl2	A	C	6: 29,870,627 (GRCm39)		probably null	Het
Ankrd2	T	A	19: 42,032,292 (GRCm39)		probably null	Het
Anxa6	A	T	11: 54,885,214 (GRCm39)		probably null	Het
Bpi	A	G	2: 158,103,346 (GRCm39)	I114V	possibly damaging	Het
Cacna1c	A	T	6: 118,652,857 (GRCm39)	I772N	probably damaging	Het
Cacna2d1	A	G	5: 16,570,860 (GRCm39)	N1045D	possibly damaging	Het
Caprin2	T	C	6: 148,785,009 (GRCm39)		probably null	Het
Cars1	T	A	7: 143,124,307 (GRCm39)	H373L	probably damaging	Het
Ccdc191	G	T	16: 43,751,618 (GRCm39)	G316V	probably damaging	Het
Cd244a	T	A	1: 171,404,801 (GRCm39)		probably null	Het
Ces1a	C	T	8: 93,749,044 (GRCm39)	D456N	probably benign	Het
Cul3	A	T	1: 80,267,835 (GRCm39)	M102K	probably damaging	Het
Dact1	A	G	12: 71,365,234 (GRCm39)	R672G	probably damaging	Het
Dapk1	T	C	13: 60,905,262 (GRCm39)	F991L	probably benign	Het
Dlg5	G	A	14: 24,185,645 (GRCm39)	P1920L	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Exosc4	A	G	15: 76,211,734 (GRCm39)	I14M	probably benign	Het
Ezr	G	A	17: 7,021,398 (GRCm39)	R180*	probably null	Het
Fcgbpl1	A	T	7: 27,839,555 (GRCm39)	Y456F	probably damaging	Het
Fyb1	A	T	15: 6,668,309 (GRCm39)	I501F	probably damaging	Het
Hdac5	G	T	11: 102,095,472 (GRCm39)	P383Q	probably benign	Het
Hmx3	A	T	7: 131,144,813 (GRCm39)	H41L	probably benign	Het
Krt36	A	G	11: 99,994,225 (GRCm39)	F284S	probably damaging	Het
L1td1	A	G	4: 98,625,862 (GRCm39)	N686D	probably damaging	Het
Lsamp	G	A	16: 41,709,327 (GRCm39)	G86S	probably benign	Het
Myh8	A	G	11: 67,196,824 (GRCm39)	E1819G	possibly damaging	Het
Myo7a	A	T	7: 97,747,463 (GRCm39)	I129N	probably damaging	Het
Nckap1	A	T	2: 80,384,593 (GRCm39)	C114S	probably benign	Het
Nphp4	T	G	4: 152,622,512 (GRCm39)	L599R	probably benign	Het
Nrcam	A	G	12: 44,596,667 (GRCm39)	I301V	probably benign	Het
Or6b2b	A	G	1: 92,419,127 (GRCm39)	S117P	possibly damaging	Het
Os9	C	T	10: 126,932,924 (GRCm39)	R547Q	probably damaging	Het
Oxtr	A	T	6: 112,466,598 (GRCm39)		probably null	Het
Pgm2	A	T	5: 64,269,490 (GRCm39)	I526F	possibly damaging	Het
Plekho2	T	C	9: 65,464,105 (GRCm39)	D248G	possibly damaging	Het
Rab43	A	T	6: 87,769,752 (GRCm39)	Y151*	probably null	Het
Rbm19	A	G	5: 120,264,269 (GRCm39)	E343G	probably benign	Het
Rel	A	T	11: 23,692,439 (GRCm39)	D531E	probably benign	Het
Rfx4	T	A	10: 84,704,291 (GRCm39)	V262E	probably damaging	Het
Ryr3	A	G	2: 112,672,178 (GRCm39)	L1431P	probably damaging	Het
Sdk2	A	G	11: 113,729,271 (GRCm39)	I1102T	probably benign	Het
Sema3d	A	C	5: 12,513,183 (GRCm39)	D51A	possibly damaging	Het
Sh2d4a	T	A	8: 68,787,775 (GRCm39)	F294I	probably damaging	Het
Slc3a1	A	G	17: 85,367,171 (GRCm39)	T453A	probably benign	Het
Sod1	A	G	16: 90,022,071 (GRCm39)	D93G	probably benign	Het
Sptan1	A	G	2: 29,906,040 (GRCm39)	N1662S	probably damaging	Het
Stxbp4	A	C	11: 90,512,526 (GRCm39)	M1R	probably null	Het
Tbc1d7	A	T	13: 43,318,812 (GRCm39)	Y108*	probably null	Het
Ticam1	A	T	17: 56,577,226 (GRCm39)	V623D	unknown	Het
Ticam1	A	G	17: 56,578,687 (GRCm39)	L136P	probably damaging	Het
Unc80	A	T	1: 66,549,800 (GRCm39)	Q686L	possibly damaging	Het
Wdr45b	A	T	11: 121,221,040 (GRCm39)	F213I	probably damaging	Het
Xdh	A	C	17: 74,230,077 (GRCm39)	W285G	probably benign	Het
Zfp646	C	T	7: 127,482,982 (GRCm39)	Q1500*	probably null	Het

Other mutations in Tjap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CAAACGCAGCTCCAAGGATTGATG -3'
(R):5'- GCCCGAGCTACAATTGCATTTCTCC -3'

Sequencing Primer
(F):5'- CTCCAAGGATTGATGTGGGC -3'
(R):5'- CTTCCCCGCACCGTGAG -3'

Posted On

2013-11-07