Mutagenetix > Incidental Mutation

Incidental Mutation 'R9611:Tjp3'

724226

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 #

R9611 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81109041-81127415 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81119411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 26 (V26A)

Ref Sequence

ENSEMBL: ENSMUSP00000036438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045744] [ENSMUST00000218484] [ENSMUST00000219479]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045744
AA Change: V26A

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917
AA Change: V26A

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

possibly damaging
Transcript: ENSMUST00000218484
AA Change: V26A

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219479
AA Change: V26A

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	T	18: 59,023,399 (GRCm39)	T265S	probably benign	Het
Ahnak	T	A	19: 8,989,162 (GRCm39)	L3482Q	probably damaging	Het
Arhgef5	A	G	6: 43,257,890 (GRCm39)	I1311M	probably damaging	Het
Bcr	T	A	10: 74,990,743 (GRCm39)	Y750N	probably damaging	Het
Bcr	T	A	10: 74,990,745 (GRCm39)	Y750*	probably null	Het
Btbd16	T	A	7: 130,407,595 (GRCm39)	M295K	probably benign	Het
Ccdc88a	T	C	11: 29,427,316 (GRCm39)	L1007P	possibly damaging	Het
Cnep1r1	A	G	8: 88,860,457 (GRCm39)	*126W	probably null	Het
Cntnap5b	C	A	1: 99,894,935 (GRCm39)	P69Q	probably damaging	Het
Coa8	T	G	12: 111,700,108 (GRCm39)	Y163D	probably damaging	Het
Col4a3	A	G	1: 82,678,018 (GRCm39)	M1207V	unknown	Het
Colgalt2	T	A	1: 152,360,745 (GRCm39)	W261R	probably damaging	Het
Cstf1	T	A	2: 172,214,984 (GRCm39)	I35N	probably benign	Het
Cstpp1	T	C	2: 91,135,127 (GRCm39)	D111G	probably damaging	Het
Cul9	A	G	17: 46,830,823 (GRCm39)	L1690P	possibly damaging	Het
Dscaml1	C	A	9: 45,579,522 (GRCm39)	N356K	possibly damaging	Het
Ecm2	A	G	13: 49,668,518 (GRCm39)	N74D	probably benign	Het
Ecm2	A	G	13: 49,681,216 (GRCm39)	I450M	probably damaging	Het
Emc1	T	A	4: 139,091,035 (GRCm39)	D460E	probably benign	Het
Fhip2b	T	C	14: 70,824,258 (GRCm39)	Y493C	probably benign	Het
Fmo5	C	T	3: 97,549,089 (GRCm39)	R246C	possibly damaging	Het
Fyco1	T	C	9: 123,657,585 (GRCm39)	T864A	possibly damaging	Het
Galk2	T	C	2: 125,817,218 (GRCm39)	Y336H	probably damaging	Het
Gcsh	T	A	8: 117,720,125 (GRCm39)	Y14F	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gucy2g	T	C	19: 55,194,605 (GRCm39)	I937M	probably damaging	Het
Hsp90ab1	T	C	17: 45,880,600 (GRCm39)	I370M	possibly damaging	Het
Hypk	T	C	2: 121,288,154 (GRCm39)	S72P	probably damaging	Het
Ighv1-26	T	C	12: 114,752,206 (GRCm39)	Y46C	probably damaging	Het
Kctd13	G	T	7: 126,544,180 (GRCm39)	G293C	probably damaging	Het
Kmt2d	CTGCTGTTGCTG	CTGCTG	15: 98,743,054 (GRCm39)		probably benign	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Krt13	T	C	11: 100,012,318 (GRCm39)	S2G	probably benign	Het
Mark4	C	A	7: 19,167,338 (GRCm39)	R467L	possibly damaging	Het
Mrps33	T	A	6: 39,779,422 (GRCm39)	K91M	probably damaging	Het
Or51f1	T	G	7: 102,506,147 (GRCm39)	H114P	probably damaging	Het
Or5ac25	A	C	16: 59,182,242 (GRCm39)	I113S	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Phldb3	G	A	7: 24,328,372 (GRCm39)	V639M	probably damaging	Het
Pigyl	A	T	9: 22,069,499 (GRCm39)	H70L	probably damaging	Het
Pip4k2c	A	C	10: 127,036,069 (GRCm39)	L266R	probably damaging	Het
Plg	T	C	17: 12,609,213 (GRCm39)	Y173H	probably benign	Het
Pmp22	G	T	11: 63,024,065 (GRCm39)	V25F	probably benign	Het
Pot1b	T	A	17: 56,006,995 (GRCm39)	T41S	probably benign	Het
Ppp1r16b	T	A	2: 158,537,998 (GRCm39)	Y40N	probably damaging	Het
Prl5a1	A	G	13: 28,329,492 (GRCm39)	E57G	possibly damaging	Het
Prpf3	G	A	3: 95,758,931 (GRCm39)	R74*	probably null	Het
Psmb10	A	G	8: 106,664,144 (GRCm39)	F75S	probably benign	Het
Ptprm	C	A	17: 67,000,483 (GRCm39)	R1167M	probably damaging	Het
Rmnd5b	T	C	11: 51,517,869 (GRCm39)	I162V	probably damaging	Het
Sik1	T	A	17: 32,073,246 (GRCm39)	K70M	probably damaging	Het
Slc44a4	C	T	17: 35,147,793 (GRCm39)	S611F	probably benign	Het
St18	T	C	1: 6,873,147 (GRCm39)	V294A	probably benign	Het
Stk32a	A	G	18: 43,430,620 (GRCm39)	I177V	probably benign	Het
Syne2	T	C	12: 76,080,460 (GRCm39)	F58S	probably benign	Het
Tcf7l2	A	G	19: 55,899,038 (GRCm39)	D215G	probably null	Het
Tcirg1	A	T	19: 3,953,400 (GRCm39)	F149Y	probably benign	Het
Tex14	T	A	11: 87,377,084 (GRCm39)	F143I	probably damaging	Het
Tnfaip8	ACACACTCTC	AC	18: 50,179,908 (GRCm39)		probably benign	Het
Tpx2	T	A	2: 152,715,124 (GRCm39)	V115D	probably benign	Het
Tubb2b	C	A	13: 34,311,742 (GRCm39)	K350N	probably damaging	Het
Vps13b	G	T	15: 35,642,555 (GRCm39)	G1389V	possibly damaging	Het
Vps39	T	C	2: 120,172,485 (GRCm39)	R183G	probably damaging	Het
Wdr47	A	T	3: 108,518,729 (GRCm39)	E72D	probably damaging	Het
Wnk4	G	T	11: 101,159,250 (GRCm39)	E556*	probably null	Het
Xpo7	T	A	14: 70,925,617 (GRCm39)	E474V	probably benign	Het
Zfat	A	G	15: 68,051,655 (GRCm39)	V713A	possibly damaging	Het
Zfp189	G	T	4: 49,530,058 (GRCm39)	C387F	probably damaging	Het
Zmiz1	T	C	14: 25,651,022 (GRCm39)	V502A	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
R9682:Tjp3	UTSW	10	81,109,645 (GRCm39)	missense	probably benign	0.09
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'- AGGAATCAGGTCCTGCTGAC -3'
(R):5'- AGGCAGTGAACACCATAGC -3'

Sequencing Primer
(F):5'- CAGGTGCCAGGTGCTTTC -3'
(R):5'- GTGAACACCATAGCCTCCTCCTG -3'

Posted On

2022-09-12