Mutagenetix > Incidental Mutation

Incidental Mutation 'R6917:Tjp1'

539395

Institutional Source

Beutler Lab

Gene Symbol

Tjp1

Ensembl Gene

ENSMUSG00000030516

Gene Name

tight junction protein 1

Synonyms

ZO1, ZO-1

MMRRC Submission

045038-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6917 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64945913-65177529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64949436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1649 (S1649P)

Ref Sequence

ENSEMBL: ENSMUSP00000032729 (fasta)

Gene Model

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

AlphaFold

P39447

Predicted Effect

probably damaging
Transcript: ENSMUST00000032729
AA Change: S1649P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: S1649P

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 benign
Transcript: ENSMUST00000102592

SMART Domains

Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516

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

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.6%

Validation Efficiency

96% (45/47)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,437,684 (GRCm39)		probably null	Het
Adcy2	A	T	13: 68,768,876 (GRCm39)	M1084K	possibly damaging	Het
Ak1	A	G	2: 32,521,164 (GRCm39)	Y95C	possibly damaging	Het
Akap6	A	G	12: 53,115,951 (GRCm39)	E1018G	probably null	Het
Ccdc175	A	G	12: 72,231,679 (GRCm39)	S27P	probably damaging	Het
Ddx31	C	T	2: 28,782,421 (GRCm39)	T588I	probably damaging	Het
Dmxl1	T	C	18: 49,997,215 (GRCm39)	W504R	probably damaging	Het
Echs1	T	G	7: 139,689,924 (GRCm39)	M239L	probably benign	Het
Eno1b	A	G	18: 48,180,656 (GRCm39)	D278G	probably benign	Het
Eno3	A	G	11: 70,552,262 (GRCm39)	T305A	probably benign	Het
Gm5591	T	A	7: 38,221,614 (GRCm39)	S152C	probably damaging	Het
Gngt1	A	G	6: 3,996,680 (GRCm39)	D42G	probably benign	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
H2-Aa	T	C	17: 34,502,681 (GRCm39)	T79A	probably damaging	Het
Ice1	A	T	13: 70,743,013 (GRCm39)	Y2116N	probably damaging	Het
Kdm6b	A	G	11: 69,297,419 (GRCm39)	M311T	probably benign	Het
L1td1	T	C	4: 98,622,268 (GRCm39)	F277L	probably benign	Het
Lamp1	T	C	8: 13,222,563 (GRCm39)	I249T	probably damaging	Het
Ldb3	G	A	14: 34,277,321 (GRCm39)	A351V	probably null	Het
Lmo7	A	G	14: 102,155,446 (GRCm39)	E996G	probably damaging	Het
Lsr	T	C	7: 30,657,721 (GRCm39)	D413G	possibly damaging	Het
Magel2	CCCTCCTCCTCCTCCTCCTCCT	CCCTCCTCCTCCTCCTCCT	7: 62,027,592 (GRCm39)		probably benign	Het
Myo7a	T	C	7: 97,744,970 (GRCm39)	E290G	possibly damaging	Het
Nos2	C	T	11: 78,842,053 (GRCm39)	T735M	possibly damaging	Het
Or10ak12	A	T	4: 118,666,326 (GRCm39)	L245H	probably damaging	Het
Or11h6	A	G	14: 50,880,680 (GRCm39)	K314R	possibly damaging	Het
Or8g36	T	A	9: 39,422,495 (GRCm39)	I174L	probably damaging	Het
Pik3c2g	T	C	6: 139,841,899 (GRCm39)	L768P	probably benign	Het
Plod2	T	A	9: 92,475,823 (GRCm39)	V302D	possibly damaging	Het
Ptgdr	A	T	14: 45,096,067 (GRCm39)	V215E	possibly damaging	Het
Rad51d	C	T	11: 82,770,159 (GRCm39)	R199Q	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Rtel1	ATT	ATTTT	2: 180,980,070 (GRCm39)		probably null	Het
Sgip1	A	G	4: 102,825,388 (GRCm39)	R772G	probably damaging	Het
Slc19a2	C	A	1: 164,088,578 (GRCm39)	T141N	probably damaging	Het
Sp4	G	T	12: 118,262,908 (GRCm39)	N379K	probably damaging	Het
Thrap3	A	G	4: 126,074,285 (GRCm39)		probably benign	Het
Thumpd2	T	G	17: 81,351,543 (GRCm39)	I293L	probably benign	Het
Tssk4	A	G	14: 55,889,864 (GRCm39)	S326G	probably benign	Het
Txndc9	A	C	1: 38,034,887 (GRCm39)	S6A	probably benign	Het
Uhrf1	T	C	17: 56,616,574 (GRCm39)	Y131H	probably damaging	Het
Vnn3	A	G	10: 23,741,832 (GRCm39)	D379G	possibly damaging	Het
Vsig2	T	A	9: 37,452,745 (GRCm39)	S105T	probably benign	Het
Zfp445	A	T	9: 122,691,359 (GRCm39)		probably null	Het
Zfp654	A	T	16: 64,606,834 (GRCm39)	M456K	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
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
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'- AGAAAAGTCTCCACGGTCCC -3'
(R):5'- ACTAGGATTGACTGTATCTCGTGG -3'

Sequencing Primer
(F):5'- ACGGTCCCATATGCATTTATAGC -3'
(R):5'- ATCTCGTGGGAAGACTTCAGTC -3'

Posted On

2018-11-06