Mutagenetix > Incidental Mutation

Incidental Mutation 'R2310:Tjp1'

244741

Institutional Source

Beutler Lab

Gene Symbol

Tjp1

Ensembl Gene

ENSMUSG00000030516

Gene Name

tight junction protein 1

Synonyms

ZO1, ZO-1

MMRRC Submission

040309-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2310 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64945913-65177529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64979490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 345 (R345Q)

Ref Sequence

ENSEMBL: ENSMUSP00000099652 (fasta)

Gene Model

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

AlphaFold

P39447

PDB Structure

Interplay between phosphatidyl-inositol-phosphates and claudins upon binding to the 1st PDZ domain of zonula occludens 1 [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032729
AA Change: R345Q

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: R345Q

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: R345Q

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

SMART Domains

Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: R345Q

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

possibly damaging
Transcript: ENSMUST00000206612
AA Change: R345Q

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.2%
20x: 94.5%

Validation Efficiency

100% (39/39)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef10l	A	C	4: 140,320,429 (GRCm39)	C136W	probably damaging	Het
Ascc3	T	A	10: 50,624,988 (GRCm39)	H1625Q	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cpa3	C	T	3: 20,281,387 (GRCm39)	C173Y	probably damaging	Het
Cyp2c65	A	G	19: 39,081,826 (GRCm39)	T451A	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Efhd1	T	C	1: 87,192,350 (GRCm39)	L60P	probably damaging	Het
Flrt2	A	G	12: 95,746,864 (GRCm39)	T401A	probably benign	Het
Frmd4a	GAA	G	2: 4,577,210 (GRCm39)		probably null	Het
Gas2l2	A	G	11: 83,318,265 (GRCm39)	V148A	possibly damaging	Het
Golga5	A	G	12: 102,458,420 (GRCm39)	E621G	probably damaging	Het
Gsap	A	T	5: 21,401,088 (GRCm39)	R74*	probably null	Het
Intu	C	T	3: 40,608,243 (GRCm39)	A85V	probably benign	Het
Kansl3	T	A	1: 36,382,445 (GRCm39)	I860F	probably damaging	Het
Kif23	A	G	9: 61,831,426 (GRCm39)	S715P	probably damaging	Het
Map3k8	A	T	18: 4,349,001 (GRCm39)	C106S	probably benign	Het
Mcc	T	C	18: 44,564,433 (GRCm39)	E934G	probably damaging	Het
Mrpl19	A	T	6: 81,941,054 (GRCm39)		probably null	Het
Msl3l2	C	A	10: 55,991,421 (GRCm39)	R49S	probably benign	Het
Muc6	T	A	7: 141,217,444 (GRCm39)	I2410F	possibly damaging	Het
Or2t6	A	G	14: 14,175,836 (GRCm38)	V82A	probably benign	Het
Or4a73	A	G	2: 89,420,794 (GRCm39)	S222P	probably damaging	Het
Pip5k1c	T	G	10: 81,142,142 (GRCm39)	S117R	probably damaging	Het
Ppfia2	T	C	10: 106,690,841 (GRCm39)	S561P	probably damaging	Het
Pramel13	A	T	4: 144,119,475 (GRCm39)		probably null	Het
Rassf5	A	T	1: 131,172,477 (GRCm39)	W131R	probably damaging	Het
Shq1	C	T	6: 100,607,963 (GRCm39)	W316*	probably null	Het
Slc45a4	A	G	15: 73,461,409 (GRCm39)	Y87H	probably damaging	Het
Sptbn2	A	G	19: 4,768,963 (GRCm39)	D32G	probably benign	Het
Tnrc18	C	G	5: 142,774,308 (GRCm39)	V174L	probably damaging	Het
Trmt6	G	T	2: 132,650,832 (GRCm39)	P259T	probably damaging	Het
Ubap1	T	A	4: 41,379,341 (GRCm39)	V185E	possibly damaging	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Wnk2	T	C	13: 49,204,053 (GRCm39)	T1979A	probably damaging	Het
Xirp2	A	G	2: 67,356,591 (GRCm39)	D3784G	probably benign	Het
Zfp119a	A	T	17: 56,172,440 (GRCm39)	Y468N	probably benign	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
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
R6960:Tjp1	UTSW	7	64,952,763 (GRCm39)	missense	possibly damaging	0.59
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'- AACATCTGCAAATGCTGGCC -3'
(R):5'- ATAAACATGTCTGGGAGCCTAC -3'

Sequencing Primer
(F):5'- AAATGCTGGCCCTGCTCTG -3'
(R):5'- CTGGGAGCCTACATTTAATGCTAACG -3'

Posted On

2014-10-30