Mutagenetix > Incidental Mutations

Incidental Mutation 'R8195:Tjp1'

635398

Institutional Source

Beutler Lab

Gene Symbol

Tjp1

Ensembl Gene

ENSMUSG00000030516

Gene Name

tight junction protein 1

Synonyms

ZO1, ZO-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8195 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65296165-65527781 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65343722 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 34 (F34L)

Ref Sequence

ENSEMBL: ENSMUSP00000099652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032729] [ENSMUST00000102592] [ENSMUST00000206228] [ENSMUST00000206612]

PDB Structure

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000032729
AA Change: F34L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: F34L

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 damaging
Transcript: ENSMUST00000102592
AA Change: F34L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: F34L

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 damaging
Transcript: ENSMUST00000206228
AA Change: F101L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206612
AA Change: F34L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,274,735	G483R	probably benign	Het
Abca9	T	C	11: 110,138,329	D801G	probably benign	Het
Aldob	T	C	4: 49,538,822	N232S	probably damaging	Het
Ankhd1	T	C	18: 36,654,177	V322A		Het
Arfgef1	T	C	1: 10,173,253	K1024E	probably damaging	Het
Arhgef40	T	A	14: 51,988,769	V90E	probably damaging	Het
Cblc	A	T	7: 19,785,337	S399R	possibly damaging	Het
Ccdc17	T	A	4: 116,599,014	I368K	possibly damaging	Het
Ccdc17	T	A	4: 116,599,016	W369R	probably damaging	Het
Cd276	G	A	9: 58,537,472	T72I	probably damaging	Het
Cdk14	C	T	5: 5,227,159		probably null	Het
Cfap61	C	T	2: 145,947,175	S33L	probably benign	Het
Cmtm2a	A	G	8: 104,293,038	F7L	probably benign	Het
Eif2ak4	T	C	2: 118,450,338	I1062T	possibly damaging	Het
Fcnb	C	T	2: 28,078,318	S209N	possibly damaging	Het
Fxr1	A	T	3: 34,047,729	E204V	probably damaging	Het
Fzd6	T	A	15: 39,031,564	L375Q	probably damaging	Het
Ggta1	T	A	2: 35,422,267	E33V	probably damaging	Het
Gnb1l	T	A	16: 18,544,215	I119N	probably benign	Het
Gpsm1	A	G	2: 26,324,917		probably null	Het
Hecw1	A	G	13: 14,306,107	I885T	probably damaging	Het
Itgb8	T	C	12: 119,168,170	D580G	probably damaging	Het
Kbtbd12	T	A	6: 88,617,931	T306S	possibly damaging	Het
Kctd1	C	T	18: 15,063,243	E108K	unknown	Het
Lrrc36	A	G	8: 105,452,085	D304G	possibly damaging	Het
Lrrn2	A	G	1: 132,937,344	E49G	probably damaging	Het
Lysmd2	C	A	9: 75,626,028	Y88*	probably null	Het
Lzts3	A	G	2: 130,635,185	S448P	probably benign	Het
Meioc	T	A	11: 102,675,067	L447*	probably null	Het
Mybpc1	A	G	10: 88,558,691	I244T	possibly damaging	Het
Necab3	G	A	2: 154,547,443	A160V	probably benign	Het
Nek8	G	T	11: 78,170,761	P314Q	possibly damaging	Het
Nlrp5	A	G	7: 23,413,337	T140A	probably benign	Het
Olfr655	A	T	7: 104,596,926	F85Y	probably damaging	Het
Olfr763	T	C	10: 129,011,575	C97R	probably damaging	Het
Olfr860	A	T	9: 19,846,484	I45N	probably damaging	Het
Olfr921	G	A	9: 38,775,281	V9M	noncoding transcript	Het
Pgm3	G	A	9: 86,570,321	R29W	probably damaging	Het
Ppp2r3a	A	G	9: 101,213,032	C31R	probably damaging	Het
Prom1	C	T	5: 44,037,428	S334N	possibly damaging	Het
Rai14	C	T	15: 10,575,216	S581N	probably benign	Het
Rbm46	C	T	3: 82,865,468	R119Q	probably benign	Het
Rgs16	T	C	1: 153,740,943	F42S	probably benign	Het
Slc2a6	T	G	2: 27,027,826	E27A	probably benign	Het
Slc38a1	G	A	15: 96,592,566	S110L	probably benign	Het
Sox30	C	T	11: 45,991,765	R541C	probably benign	Het
Sptbn4	C	A	7: 27,408,889	E703*	probably null	Het
Trim65	T	C	11: 116,126,211	Q475R	probably benign	Het
Ttc38	A	T	15: 85,844,515	R223*	probably null	Het
Tulp1	T	C	17: 28,364,326	Q80R	probably benign	Het
Utp23	T	C	15: 51,882,202	F139L	possibly damaging	Het
Vmn1r121	A	T	7: 21,098,303	F71I	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Zdbf2	T	C	1: 63,304,066	S535P	possibly damaging	Het
Zfp788	T	G	7: 41,649,377	M479R	probably benign	Het

Other mutations in Tjp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Tjp1	APN	7	65301219	missense	probably benign
IGL00848:Tjp1	APN	7	65303194	missense	probably benign	0.00
IGL01363:Tjp1	APN	7	65302965	missense	possibly damaging	0.94
IGL01526:Tjp1	APN	7	65322658	missense	probably damaging	1.00
IGL01607:Tjp1	APN	7	65336178	missense	possibly damaging	0.94
IGL02223:Tjp1	APN	7	65322601	missense	probably damaging	1.00
IGL02341:Tjp1	APN	7	65312634	missense	probably damaging	1.00
IGL02347:Tjp1	APN	7	65301064	critical splice donor site	probably null
IGL02452:Tjp1	APN	7	65312655	missense	probably damaging	1.00
IGL02512:Tjp1	APN	7	65343667	missense	probably damaging	1.00
IGL02552:Tjp1	APN	7	65299782	nonsense	probably null
IGL02707:Tjp1	APN	7	65329683	nonsense	probably null
IGL02707:Tjp1	APN	7	65329682	missense	possibly damaging	0.85
IGL02939:Tjp1	APN	7	65314890	missense	probably damaging	1.00
IGL03139:Tjp1	APN	7	65340434	splice site	probably benign
IGL03273:Tjp1	APN	7	65299799	missense	probably damaging	1.00
IGL03391:Tjp1	APN	7	65314969	missense	probably damaging	1.00
PIT4453001:Tjp1	UTSW	7	65343614	critical splice donor site	probably null
R0012:Tjp1	UTSW	7	65329775	splice site	probably benign
R0012:Tjp1	UTSW	7	65329775	splice site	probably benign
R0390:Tjp1	UTSW	7	65314990	missense	probably damaging	1.00
R0519:Tjp1	UTSW	7	65302921	missense	probably benign
R0653:Tjp1	UTSW	7	65314755	missense	probably damaging	1.00
R1163:Tjp1	UTSW	7	65323054	missense	probably damaging	1.00
R1544:Tjp1	UTSW	7	65302921	missense	probably benign
R1634:Tjp1	UTSW	7	65302952	missense	possibly damaging	0.94
R1767:Tjp1	UTSW	7	65312553	critical splice donor site	probably null
R1771:Tjp1	UTSW	7	65313005	missense	probably benign	0.45
R1794:Tjp1	UTSW	7	65323129	missense	probably damaging	1.00
R1874:Tjp1	UTSW	7	65319253	missense	probably damaging	1.00
R1971:Tjp1	UTSW	7	65324078	missense	probably damaging	1.00
R1981:Tjp1	UTSW	7	65312855	missense	probably damaging	0.99
R2086:Tjp1	UTSW	7	65312921	missense	probably damaging	1.00
R2310:Tjp1	UTSW	7	65329742	missense	possibly damaging	0.90
R2942:Tjp1	UTSW	7	65318006	missense	probably damaging	1.00
R3974:Tjp1	UTSW	7	65297639	nonsense	probably null
R4295:Tjp1	UTSW	7	65323150	missense	probably damaging	1.00
R4296:Tjp1	UTSW	7	65318489	missense	probably damaging	1.00
R4567:Tjp1	UTSW	7	65306501	missense	probably damaging	1.00
R4574:Tjp1	UTSW	7	65322605	missense	probably damaging	1.00
R4910:Tjp1	UTSW	7	65343727	missense	probably damaging	1.00
R4958:Tjp1	UTSW	7	65336102	nonsense	probably null
R5267:Tjp1	UTSW	7	65323049	missense	probably damaging	1.00
R5371:Tjp1	UTSW	7	65313311	nonsense	probably null
R5422:Tjp1	UTSW	7	65302967	missense	probably damaging	0.99
R5514:Tjp1	UTSW	7	65354861	missense	probably damaging	1.00
R5652:Tjp1	UTSW	7	65312443	splice site	probably null
R5693:Tjp1	UTSW	7	65342663	missense	possibly damaging	0.96
R5933:Tjp1	UTSW	7	65302852	missense	probably benign	0.29
R6043:Tjp1	UTSW	7	65324089	missense	probably damaging	1.00
R6416:Tjp1	UTSW	7	65313205	missense	possibly damaging	0.76
R6491:Tjp1	UTSW	7	65337117	missense	possibly damaging	0.62
R6525:Tjp1	UTSW	7	65343651	missense	probably damaging	1.00
R6658:Tjp1	UTSW	7	65301077	missense	possibly damaging	0.82
R6917:Tjp1	UTSW	7	65299688	missense	probably damaging	0.99
R6960:Tjp1	UTSW	7	65303015	missense	possibly damaging	0.59
R7235:Tjp1	UTSW	7	65318573	missense	probably benign	0.16
R7274:Tjp1	UTSW	7	65527652	missense	possibly damaging	0.86
R7471:Tjp1	UTSW	7	65314690	missense	probably damaging	0.99
R7475:Tjp1	UTSW	7	65322339	missense	probably damaging	1.00
R7479:Tjp1	UTSW	7	65301180	missense	probably damaging	0.98
R8035:Tjp1	UTSW	7	65342702	missense	probably benign	0.34
R8276:Tjp1	UTSW	7	65343796	intron	probably benign
X0022:Tjp1	UTSW	7	65302841	missense	possibly damaging	0.75
X0027:Tjp1	UTSW	7	65314759	missense	probably benign	0.18
Z1177:Tjp1	UTSW	7	65343732	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGGTGTAAATAAGCTGGAATCAC -3'
(R):5'- AGACGTTCTCATAGAATGGACTGATG -3'

Sequencing Primer
(F):5'- AACAGATCCGTGACTAAGGAC -3'
(R):5'- GGACTGATGACTGTAATATGTAACC -3'

Posted On

2020-07-13