Mutagenetix > Incidental Mutation

Incidental Mutation 'R4523:Tjap1'

334333

Institutional Source

Beutler Lab

Gene Symbol

Tjap1

Ensembl Gene

ENSMUSG00000012296

Gene Name

tight junction associated protein 1

Synonyms

Tjp4, 0610041D19Rik, Pilt

MMRRC Submission

042004-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R4523 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46568777-46593952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46569718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 424 (V424A)

Ref Sequence

ENSEMBL: ENSMUSP00000153632 (fasta)

Gene Model

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

AlphaFold

Q9DCD5

Predicted Effect

probably benign
Transcript: ENSMUST00000012440
AA Change: V414A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000012440
Gene: ENSMUSG00000012296
AA Change: V414A

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 benign
Transcript: ENSMUST00000164342
AA Change: V414A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130710
Gene: ENSMUSG00000012296
AA Change: V414A

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 benign
Transcript: ENSMUST00000180283
AA Change: V414A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137220
Gene: ENSMUSG00000012296
AA Change: V414A

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

probably benign
Transcript: ENSMUST00000225080
AA Change: V414A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225413
AA Change: V424A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225943

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225915

Predicted Effect

probably benign
Transcript: ENSMUST00000225288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224696

Predicted Effect

probably benign
Transcript: ENSMUST00000224901

Predicted Effect

probably benign
Transcript: ENSMUST00000225359

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (61/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	G	T	5: 67,824,943 (GRCm39)	T796K	probably benign	Het
Atr	T	C	9: 95,744,916 (GRCm39)	S78P	probably damaging	Het
Calb2	C	T	8: 110,875,141 (GRCm39)		probably null	Het
Ccdc88c	G	T	12: 100,879,591 (GRCm39)	S1843R	possibly damaging	Het
Cdca7	A	G	2: 72,310,042 (GRCm39)	S77G	probably damaging	Het
Cfap47	A	T	X: 78,553,601 (GRCm39)	N291K	possibly damaging	Het
Cnot2	C	T	10: 116,417,379 (GRCm39)		probably benign	Het
Cstf2t	T	A	19: 31,060,482 (GRCm39)	V6D	possibly damaging	Het
Cybc1	A	G	11: 121,114,934 (GRCm39)		probably benign	Het
Dido1	T	C	2: 180,314,085 (GRCm39)	I852V	probably damaging	Het
Dmgdh	C	T	13: 93,825,138 (GRCm39)	Q154*	probably null	Het
Dnah12	T	C	14: 26,491,979 (GRCm39)	F1138S	probably damaging	Het
Dnah12	G	A	14: 26,598,915 (GRCm39)	A998T	possibly damaging	Het
Dusp5	T	G	19: 53,526,032 (GRCm39)	Y225D	probably damaging	Het
Fam193a	G	A	5: 34,600,715 (GRCm39)	D601N	probably benign	Het
Fbxo41	A	G	6: 85,461,024 (GRCm39)	I228T	probably damaging	Het
Fmo2	T	C	1: 162,715,277 (GRCm39)	K115R	probably benign	Het
Gak	G	T	5: 108,724,432 (GRCm39)	Q1093K	probably benign	Het
Gm5277	G	T	3: 78,799,493 (GRCm39)		noncoding transcript	Het
Hgsnat	A	G	8: 26,458,389 (GRCm39)		probably null	Het
Hycc1	T	C	5: 24,170,120 (GRCm39)	T410A	probably benign	Het
Irag1	T	C	7: 110,523,048 (GRCm39)	M338V	probably benign	Het
Map3k3	G	A	11: 106,039,694 (GRCm39)	R278H	probably damaging	Het
Muc4	T	C	16: 32,555,154 (GRCm39)		probably benign	Het
Nectin3	C	A	16: 46,268,953 (GRCm39)	R483L	probably benign	Het
Nop2	G	T	6: 125,110,515 (GRCm39)	R47L	probably damaging	Het
Ntng1	A	G	3: 109,842,312 (GRCm39)	S154P	probably damaging	Het
Olfml2b	T	C	1: 170,496,791 (GRCm39)	I474T	probably benign	Het
Optc	G	T	1: 133,831,492 (GRCm39)	T138K	possibly damaging	Het
Or7g25	T	C	9: 19,160,525 (GRCm39)	T57A	probably damaging	Het
Or8k22	C	G	2: 86,163,644 (GRCm39)	D19H	probably benign	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pard3	C	T	8: 128,125,108 (GRCm39)	P421S	probably benign	Het
Pcdhb22	G	T	18: 37,653,474 (GRCm39)	E647D	probably benign	Het
Pclo	A	G	5: 14,730,006 (GRCm39)		probably benign	Het
Prkce	G	T	17: 86,798,178 (GRCm39)		probably null	Het
Prr12	T	C	7: 44,697,947 (GRCm39)	D656G	unknown	Het
Ptprk	A	T	10: 28,342,048 (GRCm39)	D485V	probably damaging	Het
Ptprn2	T	C	12: 116,839,620 (GRCm39)	L381P	probably damaging	Het
Rnf144b	T	C	13: 47,361,013 (GRCm39)	I51T	probably benign	Het
Rpl10l	T	C	12: 66,330,512 (GRCm39)	D207G	probably benign	Het
Sh3glb2	A	T	2: 30,240,711 (GRCm39)	V118E	probably damaging	Het
Sipa1l2	C	T	8: 126,219,163 (GRCm39)	G58D	probably damaging	Het
Slc5a4a	C	T	10: 75,984,196 (GRCm39)	A46V	probably damaging	Het
Spmip8	T	A	8: 96,039,638 (GRCm39)	Y18*	probably null	Het
Tgm7	C	A	2: 120,929,069 (GRCm39)		probably null	Het
Trpm6	A	T	19: 18,773,864 (GRCm39)	I414F	probably damaging	Het
Tsr3	C	G	17: 25,460,723 (GRCm39)	D196E	probably benign	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn2r72	T	A	7: 85,401,134 (GRCm39)	H95L	probably benign	Het
Vmn2r97	T	A	17: 19,149,333 (GRCm39)	N240K	probably benign	Het
Xdh	C	A	17: 74,205,339 (GRCm39)	G1042V	probably damaging	Het
Zcchc4	A	G	5: 52,941,409 (GRCm39)	D68G	probably damaging	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
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
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'- AGGCAGGTTCAGCATTTCC -3'
(R):5'- AACTGTACCTATGCCACCCG -3'

Sequencing Primer
(F):5'- GGCAGGTTCAGCATTTCCTCTTC -3'
(R):5'- CATCTCCTTGAGCCTGGTGGAG -3'

Posted On

2015-08-18