Mutagenetix > Incidental Mutation

Incidental Mutation 'R4958:Tjp1'

381705

Institutional Source

Beutler Lab

Gene Symbol

Tjp1

Ensembl Gene

ENSMUSG00000030516

Gene Name

tight junction protein 1

Synonyms

ZO1, ZO-1

MMRRC Submission

042555-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4958 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64945913-65177529 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 64985850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 314 (R314*)

Ref Sequence

ENSEMBL: ENSMUSP00000146149 (fasta)

Gene Model

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

AlphaFold

P39447

Predicted Effect

probably null
Transcript: ENSMUST00000032729
AA Change: R314*

SMART Domains

Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: R314*

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

probably null
Transcript: ENSMUST00000102592
AA Change: R314*

SMART Domains

Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: R314*

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

noncoding transcript
Transcript: ENSMUST00000144961

Predicted Effect

probably null
Transcript: ENSMUST00000206612
AA Change: R314*

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

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
Ankrd7	A	G	6: 18,866,722 (GRCm39)	S81G	probably benign	Het
Arel1	T	C	12: 84,973,078 (GRCm39)	K573R	possibly damaging	Het
Atf7ip	C	T	6: 136,583,808 (GRCm39)	R1280C	probably damaging	Het
Atp1a4	T	A	1: 172,058,718 (GRCm39)	D909V	probably damaging	Het
Cdh2	T	G	18: 16,760,622 (GRCm39)		probably null	Het
Col6a1	A	T	10: 76,559,339 (GRCm39)	I99N	probably damaging	Het
Dennd4c	A	G	4: 86,699,916 (GRCm39)	T256A	probably damaging	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ereg	T	C	5: 91,237,970 (GRCm39)	V152A	probably damaging	Het
Gm4950	T	C	18: 51,998,641 (GRCm39)	T105A	probably benign	Het
Hsf2	T	C	10: 57,377,467 (GRCm39)	I121T	probably damaging	Het
Kmt2a	A	T	9: 44,759,764 (GRCm39)	L728Q	probably damaging	Het
Llgl1	G	T	11: 60,602,261 (GRCm39)	R768L	probably benign	Het
Lyst	A	G	13: 13,810,048 (GRCm39)	I573V	probably benign	Het
Macf1	G	T	4: 123,369,157 (GRCm39)	T303K	probably damaging	Het
Map3k5	A	T	10: 19,899,535 (GRCm39)	Q264L	possibly damaging	Het
Mboat1	T	C	13: 30,408,376 (GRCm39)	S180P	probably damaging	Het
Mfsd6	T	C	1: 52,700,183 (GRCm39)	D655G	probably damaging	Het
Myh2	A	G	11: 67,083,785 (GRCm39)	E1521G	possibly damaging	Het
Nsd2	T	A	5: 34,049,366 (GRCm39)	S1200R	probably damaging	Het
Or51k2	T	C	7: 103,595,808 (GRCm39)	F12L	probably damaging	Het
Or52n2b	T	C	7: 104,565,668 (GRCm39)	I278M	probably damaging	Het
Or6z3	G	A	7: 6,464,057 (GRCm39)	C183Y	probably damaging	Het
Or8h9	T	C	2: 86,789,449 (GRCm39)	M118V	possibly damaging	Het
Pbrm1	T	C	14: 30,796,784 (GRCm39)	I875T	probably damaging	Het
Pla2g1b	T	A	5: 115,608,885 (GRCm39)	F26I	probably damaging	Het
Plscr4	A	G	9: 92,366,814 (GRCm39)	N143D	possibly damaging	Het
Rab11fip1	G	T	8: 27,644,841 (GRCm39)	R315S	probably damaging	Het
Rptor	G	A	11: 119,748,217 (GRCm39)	R727Q	probably benign	Het
Serac1	A	T	17: 6,119,657 (GRCm39)	V91D	probably benign	Het
Slco1a6	C	A	6: 142,091,431 (GRCm39)	G90C	probably damaging	Het
Sulf1	A	G	1: 12,867,134 (GRCm39)	Y106C	probably benign	Het
Syt13	G	A	2: 92,783,794 (GRCm39)	V355M	probably damaging	Het
Tshr	A	G	12: 91,504,961 (GRCm39)	D633G	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Znrf4	A	G	17: 56,818,701 (GRCm39)	F202S	probably damaging	Het
Zswim8	T	A	14: 20,763,533 (GRCm39)	W427R	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
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'- AAACACTTCTCTGGCTGCCTAC -3'
(R):5'- TGTAGTTTGGTGACCACTAGAGATG -3'

Sequencing Primer
(F):5'- TCTGGCTGCCTACATACTAAATG -3'
(R):5'- GGTGACCACTAGAGATGATATTAACG -3'

Posted On

2016-04-27