Mutagenetix > Incidental Mutation

Incidental Mutation 'R9682:Tjp3'

728639

Institutional Source

Beutler Lab

Gene Symbol

Tjp3

Ensembl Gene

ENSMUSG00000034917

Gene Name

tight junction protein 3

Synonyms

ZO-3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9682 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81109041-81127415 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 81109645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 853 (E853K)

Ref Sequence

ENSEMBL: ENSMUSP00000036438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045744] [ENSMUST00000057798] [ENSMUST00000218742] [ENSMUST00000219304] [ENSMUST00000219460] [ENSMUST00000219479] [ENSMUST00000220297]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045744
AA Change: E853K

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917
AA Change: E853K

Domain	Start	End	E-Value	Type
PDZ	20	93	2.81e-18	SMART
low complexity region	119	162	N/A	INTRINSIC
PDZ	196	264	2.71e-11	SMART
low complexity region	297	305	N/A	INTRINSIC
PDZ	378	451	4.97e-19	SMART
SH3	466	539	9.96e-2	SMART
low complexity region	548	559	N/A	INTRINSIC
GuKc	570	756	6.9e-46	SMART
Blast:GuKc	767	898	9e-27	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000057798

SMART Domains

Protein: ENSMUSP00000050995
Gene: ENSMUSG00000004931

Domain	Start	End	E-Value	Type
low complexity region	5	14	N/A	INTRINSIC
low complexity region	98	120	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
PTB	213	359	3.03e-40	SMART
PDZ	400	478	3.74e-14	SMART
PDZ	492	557	9.58e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000218297

Predicted Effect

probably benign
Transcript: ENSMUST00000218742

Predicted Effect

probably benign
Transcript: ENSMUST00000219304

Predicted Effect

probably benign
Transcript: ENSMUST00000219460

Predicted Effect

probably benign
Transcript: ENSMUST00000219479
AA Change: E853K

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000220297

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygous mutation of this gene results in viable and fertile mice with no abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,752,507 (GRCm39)	M493L	probably benign	Het
Abcb5	T	A	12: 118,896,328 (GRCm39)	I334F	probably damaging	Het
Acad9	C	T	3: 36,136,268 (GRCm39)	A351V	possibly damaging	Het
Adgrg6	A	T	10: 14,316,128 (GRCm39)	N536K	possibly damaging	Het
Alk	A	T	17: 72,182,058 (GRCm39)	L1322M	possibly damaging	Het
Atp2b1	T	C	10: 98,815,662 (GRCm39)	V102A	possibly damaging	Het
Atp8b3	T	C	10: 80,371,230 (GRCm39)	N48S	probably damaging	Het
B3gnt4	A	T	5: 123,649,516 (GRCm39)	I294L	probably benign	Het
Bnip3	A	G	7: 138,496,445 (GRCm39)	S88P	probably damaging	Het
Ccr2	A	G	9: 123,906,176 (GRCm39)	Y152C	probably damaging	Het
Cd28	T	C	1: 60,804,505 (GRCm39)	L161P	probably damaging	Het
Clcn4	C	T	7: 7,299,797 (GRCm39)	V11M	probably benign	Het
Clec4g	T	A	8: 3,757,713 (GRCm39)	S79C	unknown	Het
Cux1	A	T	5: 136,337,116 (GRCm39)	S799T	probably benign	Het
Cyp2t4	A	T	7: 26,857,611 (GRCm39)	H408L	probably damaging	Het
Cyp3a41a	A	T	5: 145,652,326 (GRCm39)	W58R	possibly damaging	Het
Dicer1	A	G	12: 104,672,484 (GRCm39)	V921A	probably damaging	Het
Dpysl3	A	G	18: 43,491,313 (GRCm39)	L268P	probably damaging	Het
Dus3l	G	A	17: 57,076,770 (GRCm39)	V626I	probably benign	Het
Epb41	C	A	4: 131,655,820 (GRCm39)	D337Y		Het
Fer1l6	A	G	15: 58,422,113 (GRCm39)	T104A	probably benign	Het
Fgd4	T	C	16: 16,302,202 (GRCm39)	T118A	probably benign	Het
Gabra4	T	A	5: 71,798,415 (GRCm39)	Y188F	possibly damaging	Het
Gm28168	A	T	1: 117,875,824 (GRCm39)	H151L	probably damaging	Het
Gm7995	A	G	14: 42,133,395 (GRCm39)	I91V		Het
Heg1	A	G	16: 33,541,298 (GRCm39)	E485G	probably benign	Het
Hirip3	A	G	7: 126,462,021 (GRCm39)	D73G	probably benign	Het
Igdcc3	A	G	9: 65,091,332 (GRCm39)	D684G	probably benign	Het
Kif15	A	G	9: 122,815,712 (GRCm39)	E502G	probably damaging	Het
Lrrc31	C	T	3: 30,743,423 (GRCm39)	V181I	probably damaging	Het
Lrrc7	G	T	3: 157,882,954 (GRCm39)	S446R	possibly damaging	Het
Lyst	A	G	13: 13,831,526 (GRCm39)	E1650G	probably benign	Het
Map3k6	A	G	4: 132,975,419 (GRCm39)	Y718C	possibly damaging	Het
Mta1	T	C	12: 113,095,384 (GRCm39)		probably null	Het
Muc16	C	T	9: 18,553,874 (GRCm39)	G4140R	unknown	Het
Nfe2l1	A	C	11: 96,710,944 (GRCm39)	I428M	probably benign	Het
Nup210l	T	A	3: 90,051,469 (GRCm39)	Y538N	possibly damaging	Het
Nxpe4	G	A	9: 48,304,248 (GRCm39)	V112M	probably benign	Het
Or1e16	C	T	11: 73,286,025 (GRCm39)	M274I	probably benign	Het
Or4c112	T	A	2: 88,854,296 (GRCm39)	Q17L	possibly damaging	Het
Or4k40	T	A	2: 111,250,737 (GRCm39)	K186N	probably benign	Het
Or52d3	G	T	7: 104,229,434 (GRCm39)	A194S	probably damaging	Het
Or8g24	G	A	9: 38,989,874 (GRCm39)	H56Y	possibly damaging	Het
Palm	A	G	10: 79,655,039 (GRCm39)	T266A	possibly damaging	Het
Pdzph1	T	G	17: 59,257,262 (GRCm39)	K925N	probably damaging	Het
Pfkfb3	G	T	2: 11,491,058 (GRCm39)	Q179K	probably benign	Het
Phtf1	A	G	3: 103,901,214 (GRCm39)	Q421R	possibly damaging	Het
Pip5k1b	A	T	19: 24,356,318 (GRCm39)	S207T	probably damaging	Het
Pkd2	T	C	5: 104,626,790 (GRCm39)	V324A	probably damaging	Het
Plcxd1	A	T	5: 110,251,477 (GRCm39)	N351I	probably damaging	Het
Prr14l	G	A	5: 32,988,023 (GRCm39)	P491S	probably benign	Het
Rxfp2	A	T	5: 149,966,564 (GRCm39)	R101*	probably null	Het
Saxo2	T	G	7: 82,292,881 (GRCm39)	K72T	probably benign	Het
Sema3b	T	A	9: 107,481,013 (GRCm39)	D108V	probably damaging	Het
Sh3gl2	A	G	4: 85,295,748 (GRCm39)	D150G	probably damaging	Het
Slc6a12	G	A	6: 121,340,704 (GRCm39)	M544I	probably benign	Het
Spag6l	T	C	16: 16,646,981 (GRCm39)		probably null	Het
Stat3	A	G	11: 100,785,593 (GRCm39)	F512L	probably benign	Het
Stk39	A	G	2: 68,196,449 (GRCm39)	S327P	probably damaging	Het
Tmem30c	A	T	16: 57,111,180 (GRCm39)	S31T	probably benign	Het
Tpte	A	T	8: 22,841,493 (GRCm39)	D495V	probably damaging	Het
Ugt2b5	A	T	5: 87,287,522 (GRCm39)	M215K	probably damaging	Het
Vinac1	T	C	2: 128,875,529 (GRCm39)	S1246G	unknown	Het
Vsig2	T	C	9: 37,451,771 (GRCm39)	L135S	probably benign	Het

Other mutations in Tjp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Tjp3	APN	10	81,109,699 (GRCm39)	missense	probably benign
IGL01739:Tjp3	APN	10	81,114,490 (GRCm39)	missense	probably benign	0.09
IGL02826:Tjp3	APN	10	81,109,523 (GRCm39)	missense	probably damaging	0.98
IGL03145:Tjp3	APN	10	81,119,522 (GRCm39)	missense	probably benign	0.05
PIT4480001:Tjp3	UTSW	10	81,115,091 (GRCm39)	missense	probably damaging	1.00
R0561:Tjp3	UTSW	10	81,109,674 (GRCm39)	missense	probably benign
R0562:Tjp3	UTSW	10	81,116,389 (GRCm39)	missense	probably damaging	0.99
R1099:Tjp3	UTSW	10	81,109,657 (GRCm39)	missense	probably benign
R1618:Tjp3	UTSW	10	81,112,094 (GRCm39)	unclassified	probably benign
R1786:Tjp3	UTSW	10	81,113,888 (GRCm39)	missense	possibly damaging	0.52
R1955:Tjp3	UTSW	10	81,113,833 (GRCm39)	missense	probably damaging	1.00
R2107:Tjp3	UTSW	10	81,116,378 (GRCm39)	missense	possibly damaging	0.67
R2130:Tjp3	UTSW	10	81,113,888 (GRCm39)	missense	possibly damaging	0.52
R2131:Tjp3	UTSW	10	81,113,888 (GRCm39)	missense	possibly damaging	0.52
R2132:Tjp3	UTSW	10	81,113,888 (GRCm39)	missense	possibly damaging	0.52
R2133:Tjp3	UTSW	10	81,113,888 (GRCm39)	missense	possibly damaging	0.52
R2178:Tjp3	UTSW	10	81,115,941 (GRCm39)	missense	probably benign	0.17
R3054:Tjp3	UTSW	10	81,116,341 (GRCm39)	missense	probably benign	0.13
R3055:Tjp3	UTSW	10	81,116,341 (GRCm39)	missense	probably benign	0.13
R5470:Tjp3	UTSW	10	81,115,381 (GRCm39)	missense	probably benign	0.04
R5645:Tjp3	UTSW	10	81,114,454 (GRCm39)	splice site	probably null
R5918:Tjp3	UTSW	10	81,113,746 (GRCm39)	missense	probably benign	0.01
R6108:Tjp3	UTSW	10	81,116,980 (GRCm39)	missense	probably benign
R6245:Tjp3	UTSW	10	81,113,110 (GRCm39)	missense	probably benign	0.02
R6300:Tjp3	UTSW	10	81,116,951 (GRCm39)	nonsense	probably null
R7686:Tjp3	UTSW	10	81,113,885 (GRCm39)	missense	probably benign	0.00
R7958:Tjp3	UTSW	10	81,118,828 (GRCm39)	missense	possibly damaging	0.56
R8137:Tjp3	UTSW	10	81,109,525 (GRCm39)	missense	probably benign	0.00
R8240:Tjp3	UTSW	10	81,109,641 (GRCm39)	missense	probably benign	0.06
R8317:Tjp3	UTSW	10	81,116,324 (GRCm39)	missense	probably benign	0.11
R9226:Tjp3	UTSW	10	81,110,420 (GRCm39)	missense	probably damaging	1.00
R9548:Tjp3	UTSW	10	81,113,833 (GRCm39)	missense	probably damaging	1.00
R9610:Tjp3	UTSW	10	81,119,411 (GRCm39)	missense	possibly damaging	0.57
R9611:Tjp3	UTSW	10	81,119,411 (GRCm39)	missense	possibly damaging	0.57
R9790:Tjp3	UTSW	10	81,109,694 (GRCm39)	missense	probably benign	0.00
R9791:Tjp3	UTSW	10	81,109,694 (GRCm39)	missense	probably benign	0.00
Z1176:Tjp3	UTSW	10	81,116,943 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAACCATGTGGAGTGTGG -3'
(R):5'- AACAGCGACTATGAGGACAC -3'

Sequencing Primer
(F):5'- AAGCTCTCAGGCCTGCATC -3'
(R):5'- CGACTATGAGGACACCGACG -3'

Posted On

2022-10-06