Mutagenetix > Incidental Mutation

Incidental Mutation 'R5693:Tjp1'

443772

Institutional Source

Beutler Lab

Gene Symbol

Tjp1

Ensembl Gene

ENSMUSG00000030516

Gene Name

tight junction protein 1

Synonyms

ZO1, ZO-1

MMRRC Submission

043180-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5693 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64945913-65177529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 64992411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 156 (A156V)

Ref Sequence

ENSEMBL: ENSMUSP00000145910 (fasta)

Gene Model

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

AlphaFold

P39447

Predicted Effect

probably benign
Transcript: ENSMUST00000032729
AA Change: A89V

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: A89V

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: A89V

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: A89V

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

possibly damaging
Transcript: ENSMUST00000206228
AA Change: A156V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000206612
AA Change: A89V

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,266,233 (GRCm39)	I3071V	probably benign	Het
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Abr	T	C	11: 76,354,403 (GRCm39)	N236S	probably damaging	Het
Adcy6	T	C	15: 98,501,870 (GRCm39)	Y248C	probably damaging	Het
Armc8	A	G	9: 99,378,202 (GRCm39)		probably null	Het
Chd6	A	T	2: 160,807,185 (GRCm39)	S2010T	probably benign	Het
Dcc	G	A	18: 71,708,153 (GRCm39)	T521I	probably damaging	Het
Dmrtb1	G	A	4: 107,541,366 (GRCm39)		probably benign	Het
Evc	A	G	5: 37,477,584 (GRCm39)	V365A	possibly damaging	Het
Gata4	A	G	14: 63,478,594 (GRCm39)	Y2H	probably damaging	Het
Gpc1	A	G	1: 92,785,621 (GRCm39)	N437S	probably damaging	Het
Lifr	T	C	15: 7,205,041 (GRCm39)	V426A	probably damaging	Het
Lpin3	A	G	2: 160,737,320 (GRCm39)	I122M	probably benign	Het
Muc4	A	G	16: 32,597,181 (GRCm39)	N3174D	possibly damaging	Het
Myo6	G	A	9: 80,173,462 (GRCm39)	R534H	probably damaging	Het
Nectin2	T	C	7: 19,458,794 (GRCm39)	D339G	probably benign	Het
Oprd1	G	A	4: 131,871,721 (GRCm39)		probably benign	Het
Or6c66	T	C	10: 129,461,396 (GRCm39)	D178G	probably damaging	Het
Orc1	G	A	4: 108,470,276 (GRCm39)	V751I	probably benign	Het
Pacs2	T	C	12: 113,013,526 (GRCm39)	S175P	probably damaging	Het
Pik3r5	C	T	11: 68,385,077 (GRCm39)	R661C	probably damaging	Het
Plscr5	A	T	9: 92,087,564 (GRCm39)	K178*	probably null	Het
Prkar1b	A	G	5: 139,113,400 (GRCm39)	V40A	possibly damaging	Het
Ptprf	G	A	4: 118,093,374 (GRCm39)	R90*	probably null	Het
Rasef	T	C	4: 73,688,076 (GRCm39)	M26V	probably damaging	Het
Rfx1	C	A	8: 84,800,533 (GRCm39)	Q45K	unknown	Het
Rnf183	A	G	4: 62,346,753 (GRCm39)	V15A	possibly damaging	Het
Slc10a2	C	A	8: 5,155,128 (GRCm39)	C19F	probably damaging	Het
Slc14a2	T	A	18: 78,190,229 (GRCm39)	I907F	probably benign	Het
Snx16	T	C	3: 10,485,318 (GRCm39)	I293V	probably benign	Het
Srcap	C	A	7: 127,118,988 (GRCm39)	A97E	probably damaging	Het
Thyn1	G	T	9: 26,916,511 (GRCm39)		probably null	Het
Tiparp	T	C	3: 65,460,913 (GRCm39)	I634T	possibly damaging	Het
Tmem168	T	C	6: 13,602,320 (GRCm39)	M349V	probably benign	Het
Tyro3	T	G	2: 119,641,349 (GRCm39)	F519L	probably damaging	Het
Vmn1r167	A	T	7: 23,204,646 (GRCm39)	Y123*	probably null	Het
Vmn1r183	C	T	7: 23,754,227 (GRCm39)	T10I	possibly damaging	Het
Zfp654	T	C	16: 64,606,289 (GRCm39)	T97A	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
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
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'- CTGGACAACAACTGACTTTGG -3'
(R):5'- CTGATGCTGGGTTACATTGCTC -3'

Sequencing Primer
(F):5'- TGTGAATGTACACCATCCTGG -3'
(R):5'- CTGGGTTACATTGCTCTAAAGGCAAG -3'

Posted On

2016-11-09