Mutagenetix > Incidental Mutations

Incidental Mutation 'R1634:Tjp1'

172982

Institutional Source

Beutler Lab

Gene Symbol

Tjp1

Ensembl Gene

ENSMUSG00000030516

Gene Name

tight junction protein 1

Synonyms

ZO1, ZO-1

MMRRC Submission

039671-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65296165-65527781 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65302952 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1545 (F1545L)

Ref Sequence

ENSEMBL: ENSMUSP00000099652 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000032729
AA Change: F1465L

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: F1465L

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: F1545L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: F1545L

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: ENSMUST00000132036

Predicted Effect

probably benign
Transcript: ENSMUST00000206612

Meta Mutation Damage Score

0.0717

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.4%

Validation Efficiency

97% (67/69)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,057,731	F222I	probably damaging	Het
Adam34	A	T	8: 43,652,090	C173S	possibly damaging	Het
Ahi1	T	C	10: 20,965,693	V293A	probably damaging	Het
AI182371	A	T	2: 35,086,485	Y223N	probably damaging	Het
Armc4	A	G	18: 7,286,688	L181P	probably damaging	Het
Asmt	C	A	X: 170,675,829	F181L	probably damaging	Het
Axin1	T	A	17: 26,187,991	H519Q	probably damaging	Het
Cdc5l	A	T	17: 45,404,706	V660E	probably damaging	Het
Cep152	C	T	2: 125,583,889	R852H	probably benign	Het
Cpne4	T	C	9: 104,989,579	V230A	possibly damaging	Het
Cttnbp2	A	T	6: 18,408,657	N988K	probably benign	Het
D430041D05Rik	A	G	2: 104,221,211	I767T	probably damaging	Het
Dgki	A	G	6: 36,915,490	M851T	probably benign	Het
Dnah8	T	C	17: 30,713,098		probably null	Het
Dscaml1	A	G	9: 45,672,749	E504G	probably damaging	Het
Dzank1	G	A	2: 144,481,669	A618V	probably benign	Het
Fam189b	A	C	3: 89,188,094	Y511S	probably damaging	Het
Fat2	T	A	11: 55,267,684	S3403C	probably damaging	Het
Fat2	C	T	11: 55,284,719	V1723I	probably benign	Het
Flt1	A	T	5: 147,676,430	F334I	probably damaging	Het
Galnt12	G	T	4: 47,108,585		probably null	Het
Gzmc	T	C	14: 56,232,280	I188V	possibly damaging	Het
Herc1	T	C	9: 66,473,538	S3566P	possibly damaging	Het
Hoxb4	C	A	11: 96,320,273		probably benign	Het
Idh3b	C	T	2: 130,281,745	V141I	probably benign	Het
Kif24	A	G	4: 41,393,529	S1249P	probably benign	Het
Leo1	T	C	9: 75,466,260	Y656H	possibly damaging	Het
Map3k20	G	A	2: 72,410,177	W339*	probably null	Het
Map3k5	T	C	10: 20,136,911	V1259A	possibly damaging	Het
Masp2	A	G	4: 148,614,355	D631G	probably damaging	Het
Mink1	T	C	11: 70,608,880	S713P	probably benign	Het
Mpp7	A	T	18: 7,350,984	V571E	possibly damaging	Het
Nell1	A	G	7: 50,848,558	D574G	possibly damaging	Het
Obscn	T	C	11: 59,076,896	Y392C	probably damaging	Het
Olfml2a	A	T	2: 38,960,219	Y649F	probably benign	Het
Olfr1295	T	C	2: 111,565,346	M33V	probably benign	Het
Olfr161	A	G	16: 3,593,209	D271G	probably benign	Het
Prkcg	A	G	7: 3,323,470	D484G	probably damaging	Het
Rab27a	T	C	9: 73,075,569		probably null	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Rgl1	C	T	1: 152,524,772	R624H	probably damaging	Het
Ric8b	G	A	10: 84,970,748	G159D	probably damaging	Het
Sbno2	C	A	10: 80,060,634	A880S	possibly damaging	Het
Scn9a	A	G	2: 66,488,017	S1477P	probably damaging	Het
Sec22a	T	C	16: 35,318,873		probably benign	Het
Snx14	T	C	9: 88,385,739	I714M	probably benign	Het
Snx14	T	C	9: 88,407,490		probably benign	Het
Sphk2	T	A	7: 45,711,540	T347S	probably benign	Het
Spns1	C	T	7: 126,371,171		probably benign	Het
Susd2	A	G	10: 75,637,555	V675A	probably benign	Het
Sytl2	A	T	7: 90,395,182	D566V	probably damaging	Het
Tcf25	T	A	8: 123,397,091	I464N	possibly damaging	Het
Tex261	A	T	6: 83,775,022	I49N	possibly damaging	Het
Tmem176b	A	G	6: 48,834,566	S216P	probably damaging	Het
Topaz1	C	T	9: 122,780,675		probably benign	Het
Tra2a	C	T	6: 49,250,957		probably benign	Het
Ttn	A	G	2: 76,722,782	F22794S	possibly damaging	Het
Uox	G	A	3: 146,612,383	W93*	probably null	Het
Zan	A	T	5: 137,412,790		probably benign	Het
Zfp106	G	A	2: 120,533,677	R750*	probably null	Het
Zfp638	A	T	6: 83,979,912		probably null	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
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
R8195:Tjp1	UTSW	7	65343722	missense	probably damaging	1.00
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'- ACCTATAGCTGCACATCTGTAGTCCC -3'
(R):5'- TTCTATCCGCAGAAAAGTTTCCCAGAC -3'

Sequencing Primer
(F):5'- TGTATCTTACCTCACAGGGACAG -3'
(R):5'- GACAAAGCTCCAGTTAACGG -3'

Posted On

2014-04-24