Mutagenetix > Incidental Mutation

Incidental Mutation 'R6960:Tjp1'

541705

Institutional Source

Beutler Lab

Gene Symbol

Tjp1

Ensembl Gene

ENSMUSG00000030516

Gene Name

tight junction protein 1

Synonyms

ZO1, ZO-1

MMRRC Submission

045070-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6960 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64945913-65177529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64952763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 1444 (F1444I)

Ref Sequence

ENSEMBL: ENSMUSP00000032729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032729] [ENSMUST00000102592] [ENSMUST00000206612]

AlphaFold

P39447

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032729
AA Change: F1444I

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: F1444I

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
PDZ	32	110	1.65e-15	SMART
PDZ	196	264	3.92e-17	SMART
low complexity region	302	324	N/A	INTRINSIC
PDZ	431	504	5.94e-17	SMART
SH3	519	583	6.41e-2	SMART
GuKc	606	794	1.28e-49	SMART
low complexity region	810	824	N/A	INTRINSIC
low complexity region	893	906	N/A	INTRINSIC
low complexity region	1157	1176	N/A	INTRINSIC
low complexity region	1246	1257	N/A	INTRINSIC
low complexity region	1308	1319	N/A	INTRINSIC
low complexity region	1339	1365	N/A	INTRINSIC
low complexity region	1389	1400	N/A	INTRINSIC
ZU5	1549	1654	1.1e-56	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102592
AA Change: F1524I

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: F1524I

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
PDZ	32	110	1.65e-15	SMART
PDZ	196	264	3.92e-17	SMART
low complexity region	302	324	N/A	INTRINSIC
PDZ	431	504	5.94e-17	SMART
SH3	519	583	6.41e-2	SMART
GuKc	606	794	1.28e-49	SMART
low complexity region	810	824	N/A	INTRINSIC
low complexity region	893	906	N/A	INTRINSIC
low complexity region	939	955	N/A	INTRINSIC
low complexity region	1237	1256	N/A	INTRINSIC
low complexity region	1326	1337	N/A	INTRINSIC
low complexity region	1388	1399	N/A	INTRINSIC
low complexity region	1419	1445	N/A	INTRINSIC
low complexity region	1469	1480	N/A	INTRINSIC
ZU5	1629	1735	1.84e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000206612

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

98% (50/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The encoded protein may be involved in signal transduction at cell-cell junctions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele show embryonic lethality and growth retardation, failure of embryo turning and chorioallantoic fusion, defective yolk sac angiogenesis, and increased apoptosis in the notochord, neural tube, somite and allantois. Homozygotes for a reporter allele are overtly normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,072,924 (GRCm39)	D1170G	probably benign	Het
Ak7	A	T	12: 105,676,503 (GRCm39)	T68S	probably benign	Het
Arhgap12	A	T	18: 6,111,901 (GRCm39)	N26K	probably damaging	Het
B3galt1	A	T	2: 67,949,033 (GRCm39)	E249D	probably damaging	Het
Catsper4	T	A	4: 133,954,648 (GRCm39)	M1L	probably benign	Het
Cc2d2b	T	C	19: 40,773,506 (GRCm39)	V523A	possibly damaging	Het
Ccn4	C	T	15: 66,791,047 (GRCm39)	T283M	probably benign	Het
Cyp11a1	T	C	9: 57,925,659 (GRCm39)	F98S	probably damaging	Het
Cyp2d26	T	C	15: 82,674,446 (GRCm39)	S479G	probably damaging	Het
Dclre1a	T	G	19: 56,531,141 (GRCm39)	Y735S	probably damaging	Het
Dio2	C	T	12: 90,696,671 (GRCm39)	G106R	probably damaging	Het
Efcab12	T	C	6: 115,815,273 (GRCm39)		probably benign	Het
Ehhadh	C	A	16: 21,581,028 (GRCm39)	V655L	probably benign	Het
Ercc2	G	A	7: 19,127,615 (GRCm39)	R379Q	probably damaging	Het
Fabp4	A	G	3: 10,273,537 (GRCm39)	V12A	probably benign	Het
Fbn1	T	C	2: 125,223,980 (GRCm39)	I590V	probably benign	Het
Grm8	C	A	6: 27,981,281 (GRCm39)	V210L	probably damaging	Het
Jakmip3	A	G	7: 138,625,065 (GRCm39)	D359G	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Ly75	A	T	2: 60,136,749 (GRCm39)	Y1493N	probably benign	Het
Lyst	A	G	13: 13,808,663 (GRCm39)	N111S	probably benign	Het
Lyz2	G	C	10: 117,114,607 (GRCm39)	I107M	possibly damaging	Het
Mgat5	A	T	1: 127,248,371 (GRCm39)	D91V	possibly damaging	Het
Mical3	T	A	6: 120,935,504 (GRCm39)	D1674V	probably damaging	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Naa16	A	G	14: 79,596,911 (GRCm39)	Y358H	possibly damaging	Het
Nktr	T	A	9: 121,571,758 (GRCm39)	H226Q	probably damaging	Het
Ocln	T	G	13: 100,635,380 (GRCm39)	K503T	possibly damaging	Het
Olfm4	T	C	14: 80,258,754 (GRCm39)	L301S	probably damaging	Het
Or4f4b	G	A	2: 111,314,071 (GRCm39)	V127I	possibly damaging	Het
Or6c74	T	C	10: 129,869,972 (GRCm39)	L159P	probably benign	Het
Paqr4	G	A	17: 23,956,697 (GRCm39)	A222V	probably benign	Het
Pcdhb13	A	G	18: 37,576,509 (GRCm39)	T296A	probably benign	Het
Phka2	G	A	X: 159,316,044 (GRCm39)	V230I	probably damaging	Het
Pigg	T	C	5: 108,474,707 (GRCm39)	V309A	probably damaging	Het
Ptger4	T	C	15: 5,264,196 (GRCm39)	R462G	probably benign	Het
Ptprc	C	T	1: 138,006,183 (GRCm39)		probably null	Het
Rabggta	A	C	14: 55,959,299 (GRCm39)		probably null	Het
Rnf25	A	G	1: 74,634,403 (GRCm39)	S207P	possibly damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Rtf1	A	G	2: 119,541,559 (GRCm39)	Q264R	probably damaging	Het
Ryr2	A	G	13: 11,816,129 (GRCm39)	V619A	probably benign	Het
Serpinb6d	A	G	13: 33,855,181 (GRCm39)	N285S	probably benign	Het
Slamf6	A	G	1: 171,745,320 (GRCm39)	M16V	probably damaging	Het
Slc22a23	A	G	13: 34,528,140 (GRCm39)		probably null	Het
Slc23a2	T	C	2: 131,933,173 (GRCm39)	D95G	probably damaging	Het
Smc3	T	C	19: 53,617,802 (GRCm39)	Y600H	probably damaging	Het
Tarbp1	G	A	8: 127,155,778 (GRCm39)	T1320M	possibly damaging	Het
Tigd4	A	T	3: 84,501,423 (GRCm39)	K113N	probably damaging	Het
Tstd3	A	T	4: 21,767,118 (GRCm39)	M1K	probably null	Het
Zbtb46	T	C	2: 181,065,217 (GRCm39)	D311G	probably damaging	Het

Other mutations in Tjp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Tjp1	APN	7	64,950,967 (GRCm39)	missense	probably benign
IGL00848:Tjp1	APN	7	64,952,942 (GRCm39)	missense	probably benign	0.00
IGL01363:Tjp1	APN	7	64,952,713 (GRCm39)	missense	possibly damaging	0.94
IGL01526:Tjp1	APN	7	64,972,406 (GRCm39)	missense	probably damaging	1.00
IGL01607:Tjp1	APN	7	64,985,926 (GRCm39)	missense	possibly damaging	0.94
IGL02223:Tjp1	APN	7	64,972,349 (GRCm39)	missense	probably damaging	1.00
IGL02341:Tjp1	APN	7	64,962,382 (GRCm39)	missense	probably damaging	1.00
IGL02347:Tjp1	APN	7	64,950,812 (GRCm39)	critical splice donor site	probably null
IGL02452:Tjp1	APN	7	64,962,403 (GRCm39)	missense	probably damaging	1.00
IGL02512:Tjp1	APN	7	64,993,415 (GRCm39)	missense	probably damaging	1.00
IGL02552:Tjp1	APN	7	64,949,530 (GRCm39)	nonsense	probably null
IGL02707:Tjp1	APN	7	64,979,430 (GRCm39)	missense	possibly damaging	0.85
IGL02707:Tjp1	APN	7	64,979,431 (GRCm39)	nonsense	probably null
IGL02939:Tjp1	APN	7	64,964,638 (GRCm39)	missense	probably damaging	1.00
IGL03139:Tjp1	APN	7	64,990,182 (GRCm39)	splice site	probably benign
IGL03273:Tjp1	APN	7	64,949,547 (GRCm39)	missense	probably damaging	1.00
IGL03391:Tjp1	APN	7	64,964,717 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Tjp1	UTSW	7	64,993,362 (GRCm39)	critical splice donor site	probably null
R0012:Tjp1	UTSW	7	64,979,523 (GRCm39)	splice site	probably benign
R0012:Tjp1	UTSW	7	64,979,523 (GRCm39)	splice site	probably benign
R0390:Tjp1	UTSW	7	64,964,738 (GRCm39)	missense	probably damaging	1.00
R0519:Tjp1	UTSW	7	64,952,669 (GRCm39)	missense	probably benign
R0653:Tjp1	UTSW	7	64,964,503 (GRCm39)	missense	probably damaging	1.00
R1163:Tjp1	UTSW	7	64,972,802 (GRCm39)	missense	probably damaging	1.00
R1544:Tjp1	UTSW	7	64,952,669 (GRCm39)	missense	probably benign
R1634:Tjp1	UTSW	7	64,952,700 (GRCm39)	missense	possibly damaging	0.94
R1767:Tjp1	UTSW	7	64,962,301 (GRCm39)	critical splice donor site	probably null
R1771:Tjp1	UTSW	7	64,962,753 (GRCm39)	missense	probably benign	0.45
R1794:Tjp1	UTSW	7	64,972,877 (GRCm39)	missense	probably damaging	1.00
R1874:Tjp1	UTSW	7	64,969,001 (GRCm39)	missense	probably damaging	1.00
R1971:Tjp1	UTSW	7	64,973,826 (GRCm39)	missense	probably damaging	1.00
R1981:Tjp1	UTSW	7	64,962,603 (GRCm39)	missense	probably damaging	0.99
R2086:Tjp1	UTSW	7	64,962,669 (GRCm39)	missense	probably damaging	1.00
R2310:Tjp1	UTSW	7	64,979,490 (GRCm39)	missense	possibly damaging	0.90
R2942:Tjp1	UTSW	7	64,967,754 (GRCm39)	missense	probably damaging	1.00
R3974:Tjp1	UTSW	7	64,947,387 (GRCm39)	nonsense	probably null
R4295:Tjp1	UTSW	7	64,972,898 (GRCm39)	missense	probably damaging	1.00
R4296:Tjp1	UTSW	7	64,968,237 (GRCm39)	missense	probably damaging	1.00
R4567:Tjp1	UTSW	7	64,956,249 (GRCm39)	missense	probably damaging	1.00
R4574:Tjp1	UTSW	7	64,972,353 (GRCm39)	missense	probably damaging	1.00
R4910:Tjp1	UTSW	7	64,993,475 (GRCm39)	missense	probably damaging	1.00
R4958:Tjp1	UTSW	7	64,985,850 (GRCm39)	nonsense	probably null
R5267:Tjp1	UTSW	7	64,972,797 (GRCm39)	missense	probably damaging	1.00
R5371:Tjp1	UTSW	7	64,963,059 (GRCm39)	nonsense	probably null
R5422:Tjp1	UTSW	7	64,952,715 (GRCm39)	missense	probably damaging	0.99
R5514:Tjp1	UTSW	7	65,004,609 (GRCm39)	missense	probably damaging	1.00
R5652:Tjp1	UTSW	7	64,962,191 (GRCm39)	splice site	probably null
R5693:Tjp1	UTSW	7	64,992,411 (GRCm39)	missense	possibly damaging	0.96
R5933:Tjp1	UTSW	7	64,952,600 (GRCm39)	missense	probably benign	0.29
R6043:Tjp1	UTSW	7	64,973,837 (GRCm39)	missense	probably damaging	1.00
R6416:Tjp1	UTSW	7	64,962,953 (GRCm39)	missense	possibly damaging	0.76
R6491:Tjp1	UTSW	7	64,986,865 (GRCm39)	missense	possibly damaging	0.62
R6525:Tjp1	UTSW	7	64,993,399 (GRCm39)	missense	probably damaging	1.00
R6658:Tjp1	UTSW	7	64,950,825 (GRCm39)	missense	possibly damaging	0.82
R6917:Tjp1	UTSW	7	64,949,436 (GRCm39)	missense	probably damaging	0.99
R7235:Tjp1	UTSW	7	64,968,321 (GRCm39)	missense	probably benign	0.16
R7274:Tjp1	UTSW	7	65,177,400 (GRCm39)	missense	possibly damaging	0.86
R7471:Tjp1	UTSW	7	64,964,438 (GRCm39)	missense	probably damaging	0.99
R7475:Tjp1	UTSW	7	64,972,087 (GRCm39)	missense	probably damaging	1.00
R7479:Tjp1	UTSW	7	64,950,928 (GRCm39)	missense	probably damaging	0.98
R8035:Tjp1	UTSW	7	64,992,450 (GRCm39)	missense	probably benign	0.34
R8195:Tjp1	UTSW	7	64,993,470 (GRCm39)	missense	probably damaging	1.00
R8276:Tjp1	UTSW	7	64,993,544 (GRCm39)	intron	probably benign
R8817:Tjp1	UTSW	7	64,952,810 (GRCm39)	missense	probably benign	0.41
R8869:Tjp1	UTSW	7	64,986,386 (GRCm39)	missense	probably damaging	1.00
R9043:Tjp1	UTSW	7	64,962,679 (GRCm39)	missense	probably benign	0.03
R9079:Tjp1	UTSW	7	64,950,966 (GRCm39)	missense	possibly damaging	0.77
R9081:Tjp1	UTSW	7	64,964,010 (GRCm39)	missense	possibly damaging	0.71
R9095:Tjp1	UTSW	7	64,952,745 (GRCm39)	missense	possibly damaging	0.82
R9145:Tjp1	UTSW	7	64,952,564 (GRCm39)	missense	probably benign	0.00
R9215:Tjp1	UTSW	7	64,962,595 (GRCm39)	missense	probably benign
R9581:Tjp1	UTSW	7	64,949,472 (GRCm39)	missense	probably damaging	1.00
R9665:Tjp1	UTSW	7	64,962,644 (GRCm39)	missense	probably benign
R9738:Tjp1	UTSW	7	64,986,380 (GRCm39)	missense	probably benign	0.00
X0022:Tjp1	UTSW	7	64,952,589 (GRCm39)	missense	possibly damaging	0.75
X0027:Tjp1	UTSW	7	64,964,507 (GRCm39)	missense	probably benign	0.18
Z1177:Tjp1	UTSW	7	64,993,480 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCTGGAGGCTGTGTTGAAC -3'
(R):5'- TGAGGCAACCAGCTACACTC -3'

Sequencing Primer
(F):5'- AGGCTGTGTTGAACTATGAGC -3'
(R):5'- AAGCTCCAGTTAACGGAG -3'

Posted On

2018-11-28