Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02452:Tjp1'

293697

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tjp1

Ensembl Gene

ENSMUSG00000030516

Gene Name

tight junction protein 1

Synonyms

ZO1, ZO-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02452

Quality Score

Status

Chromosome

Chromosomal Location

64945913-65177529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64962403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1258 (M1258K)

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

probably damaging
Transcript: ENSMUST00000032729
AA Change: M1178K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: M1178K

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: M1258K

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

SMART Domains

Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: M1258K

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,647,607 (GRCm39)	V11F	probably damaging	Het
Alk	A	T	17: 72,209,620 (GRCm39)	Y941*	probably null	Het
Blm	A	T	7: 80,153,125 (GRCm39)		probably null	Het
Blvrb	T	C	7: 27,158,765 (GRCm39)	V55A	possibly damaging	Het
Cdh23	T	A	10: 60,153,721 (GRCm39)	T2288S	probably damaging	Het
Csnk1g1	T	A	9: 65,915,067 (GRCm39)	M242K	probably damaging	Het
Cyp2c29	G	A	19: 39,279,291 (GRCm39)	G96D	possibly damaging	Het
Cyp2d26	T	A	15: 82,676,827 (GRCm39)	H173L	probably benign	Het
Cyp2g1	T	A	7: 26,510,871 (GRCm39)	S131T	probably benign	Het
Dusp29	G	A	14: 21,752,990 (GRCm39)	T52I	probably damaging	Het
Dzip3	T	A	16: 48,758,900 (GRCm39)		probably benign	Het
Espl1	T	C	15: 102,208,274 (GRCm39)	S427P	probably damaging	Het
Fasn	A	T	11: 120,699,006 (GRCm39)	D2424E	probably benign	Het
Flrt2	G	A	12: 95,746,257 (GRCm39)	M198I	probably benign	Het
Gen1	A	T	12: 11,292,576 (GRCm39)	S404R	probably benign	Het
Gm11596	A	T	11: 99,683,806 (GRCm39)	C105S	unknown	Het
Hdlbp	A	T	1: 93,345,233 (GRCm39)	V714D	probably damaging	Het
Igkv4-80	A	G	6: 68,993,816 (GRCm39)	V25A	probably benign	Het
Igkv8-27	C	T	6: 70,148,925 (GRCm39)	W76*	probably null	Het
Ikzf1	T	C	11: 11,698,545 (GRCm39)	L132P	probably damaging	Het
Kcna6	C	A	6: 126,715,443 (GRCm39)	C482F	possibly damaging	Het
Lhx9	A	T	1: 138,769,580 (GRCm39)	L47Q	probably damaging	Het
Lrp4	T	A	2: 91,304,347 (GRCm39)	D175E	probably damaging	Het
Lrrtm3	T	C	10: 63,923,815 (GRCm39)	K451E	probably damaging	Het
Mcm9	C	T	10: 53,417,653 (GRCm39)	V17M	probably damaging	Het
Mios	T	A	6: 8,222,492 (GRCm39)	S475R	probably benign	Het
Mmp24	C	T	2: 155,657,708 (GRCm39)	R533C	probably damaging	Het
Moxd1	C	T	10: 24,158,650 (GRCm39)	P435S	probably damaging	Het
Mta2	T	A	19: 8,927,670 (GRCm39)	I497N	probably benign	Het
Mtus2	T	C	5: 148,014,473 (GRCm39)	V422A	probably benign	Het
Ndufaf1	A	T	2: 119,486,907 (GRCm39)	F260Y	probably damaging	Het
Nfasc	C	T	1: 132,548,662 (GRCm39)		probably null	Het
Nid1	A	T	13: 13,683,305 (GRCm39)	T1128S	probably benign	Het
Odad2	C	T	18: 7,129,461 (GRCm39)	E906K	probably damaging	Het
Or51f1d	A	G	7: 102,701,138 (GRCm39)	D211G	probably benign	Het
Pcdh12	G	A	18: 38,414,746 (GRCm39)	P793L	probably benign	Het
Pclo	A	T	5: 14,726,980 (GRCm39)		probably benign	Het
Prpf31	T	A	7: 3,637,185 (GRCm39)	N161K	possibly damaging	Het
Prpf6	T	G	2: 181,290,878 (GRCm39)	N656K	probably benign	Het
Ptprn	T	A	1: 75,234,813 (GRCm39)	H258L	probably benign	Het
Rab19	A	G	6: 39,366,732 (GRCm39)	T216A	probably benign	Het
Ryr3	A	C	2: 112,664,335 (GRCm39)	L1652W	probably damaging	Het
Six2	A	C	17: 85,992,806 (GRCm39)	S232R	possibly damaging	Het
Spag17	T	C	3: 99,934,707 (GRCm39)	V663A	probably benign	Het
Spag5	A	G	11: 78,195,449 (GRCm39)	N252S	probably benign	Het
Spata31e4	A	T	13: 50,857,113 (GRCm39)	H917L	probably damaging	Het
Sptb	C	T	12: 76,655,810 (GRCm39)		probably null	Het
Synj1	A	G	16: 90,758,253 (GRCm39)		probably benign	Het
Tekt2	T	C	4: 126,218,645 (GRCm39)	H36R	possibly damaging	Het
Txnrd3	T	C	6: 89,651,777 (GRCm39)	*502Q	probably null	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
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
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

Posted On

2015-04-16