Mutagenetix > Incidental Mutations

Incidental Mutation 'R6416:Tjp1'

517929

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 #

R6416 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65296165-65527781 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65313205 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 995 (D995N)

Ref Sequence

ENSEMBL: ENSMUSP00000032729 (fasta)

Gene Model

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

AlphaFold

P39447

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032729
AA Change: D995N

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: D995N

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
AA Change: D1075N

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: D1075N

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

possibly damaging
Transcript: ENSMUST00000206612
AA Change: D995N

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.4%
20x: 94.6%

Validation Efficiency

99% (67/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	A	16: 88,707,891	R6L	unknown	Het
Anxa11	A	G	14: 25,874,270	Q235R	possibly damaging	Het
Ap2b1	T	A	11: 83,308,239	M1K	probably null	Het
Atl2	G	A	17: 79,850,223	T563I	probably benign	Het
Azin1	A	T	15: 38,492,343	S307R	possibly damaging	Het
Ccdc153	A	G	9: 44,245,780	T118A	probably benign	Het
Chac1	G	A	2: 119,353,534	V206I	probably damaging	Het
Chrm3	A	G	13: 9,877,662	V446A	probably benign	Het
Cped1	T	C	6: 22,123,649	F467S	probably damaging	Het
Csmd3	G	A	15: 48,673,560	P82L	probably damaging	Het
Ddx60	T	A	8: 61,977,950	S840T	probably benign	Het
Ddx60	C	T	8: 61,998,681	H1202Y	probably benign	Het
Dnah8	T	A	17: 30,765,635	N3102K	probably benign	Het
Dst	A	T	1: 34,116,128	K85M	probably damaging	Het
Ehbp1l1	T	C	19: 5,718,757	I839M	probably benign	Het
Fam184b	T	A	5: 45,537,653	M750L	probably benign	Het
Frem2	T	C	3: 53,572,378	T1965A	probably benign	Het
Ftl1	A	T	7: 45,459,210	D41E	probably benign	Het
Garem2	G	A	5: 30,116,737	W698*	probably null	Het
Glt8d2	T	C	10: 82,652,906	Y283C	probably damaging	Het
Hars	T	C	18: 36,773,590	E109G	possibly damaging	Het
Hspb9	T	C	11: 100,714,210	S121P	probably damaging	Het
Hus1b	A	T	13: 30,947,205	L157Q	probably damaging	Het
Hykk	A	G	9: 54,946,359	M322V	probably benign	Het
Igkv4-61	C	A	6: 69,417,154	A31S	possibly damaging	Het
Il17f	T	A	1: 20,777,907	M116L	probably benign	Het
Kif22	T	C	7: 127,028,932	K9E	possibly damaging	Het
Krt90	T	C	15: 101,559,244	E233G	probably benign	Het
Lipg	T	C	18: 74,957,236	M81V	probably benign	Het
Mocos	C	T	18: 24,701,456	S850L	probably damaging	Het
Mug2	T	A	6: 122,082,754	S1364T	probably damaging	Het
Neb	A	T	2: 52,185,328	N208K	probably benign	Het
Oca2	G	T	7: 56,328,767	R561L	probably benign	Het
Olfm5	A	G	7: 104,154,053	L401P	probably damaging	Het
Olfr109	T	A	17: 37,467,080	Y291*	probably null	Het
Olfr1238	C	A	2: 89,406,522	A186S	possibly damaging	Het
Olfr331	T	C	11: 58,502,340	D72G	probably damaging	Het
Olfr828	G	A	9: 18,815,892	T134M	probably benign	Het
Olfr952	T	A	9: 39,426,891	Y60F	probably damaging	Het
Oxgr1	T	C	14: 120,022,448	N116D	probably damaging	Het
Pcdha11	G	T	18: 37,012,169		probably null	Het
Pi4ka	T	C	16: 17,358,322	I418V	probably benign	Het
Pih1d2	T	C	9: 50,618,609	V62A	probably benign	Het
Pkib	T	A	10: 57,728,138	V46E	probably damaging	Het
Pum1	A	G	4: 130,728,287		probably null	Het
Rbak	G	T	5: 143,176,552	Q19K	possibly damaging	Het
Sema3c	A	G	5: 17,576,961	T32A	probably damaging	Het
Shprh	T	C	10: 11,167,873	W835R	probably damaging	Het
Sis	T	G	3: 72,911,854	K1456N	probably damaging	Het
Slc4a4	A	T	5: 89,179,729	N675I	probably benign	Het
Slc8a3	C	A	12: 81,315,627	M139I	probably damaging	Het
Sorcs3	T	C	19: 48,802,759	F1182S	probably damaging	Het
St8sia2	A	T	7: 73,971,921	I96N	probably damaging	Het
Stx19	T	C	16: 62,822,057	S79P	probably damaging	Het
Tecta	C	T	9: 42,375,267	V698M	probably damaging	Het
Timm22	T	C	11: 76,411,139	S150P	probably damaging	Het
Tmem135	T	A	7: 89,147,794	T365S	probably benign	Het
Tmem174	T	C	13: 98,636,981	T114A	probably benign	Het
Tnc	A	G	4: 64,007,816	I909T	probably benign	Het
Trcg1	A	G	9: 57,241,330	I62V	possibly damaging	Het
Tulp1	A	T	17: 28,356,031	*487K	probably null	Het
Unc79	T	A	12: 103,131,646	V1826E	possibly damaging	Het
Vmn2r13	A	T	5: 109,174,116	N238K	probably damaging	Het
Vmn2r22	T	A	6: 123,637,738	N298Y	probably damaging	Het
Vmn2r23	T	A	6: 123,712,902	F246I	probably damaging	Het
Vps9d1	A	C	8: 123,248,639	V194G	probably damaging	Het
Zfp260	A	T	7: 30,104,810	H45L	possibly damaging	Het
Zfp846	A	T	9: 20,593,720	H292L	possibly damaging	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
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
R8817:Tjp1	UTSW	7	65303062	missense	probably benign	0.41
R8869:Tjp1	UTSW	7	65336638	missense	probably damaging	1.00
R9043:Tjp1	UTSW	7	65312931	missense	probably benign	0.03
R9079:Tjp1	UTSW	7	65301218	missense	possibly damaging	0.77
R9081:Tjp1	UTSW	7	65314262	missense	possibly damaging	0.71
R9095:Tjp1	UTSW	7	65302997	missense	possibly damaging	0.82
R9145:Tjp1	UTSW	7	65302816	missense	probably benign	0.00
R9215:Tjp1	UTSW	7	65312847	missense	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'- AACGCTGGAAATAACCTCGTTC -3'
(R):5'- TTTTAAATGCAGGTGTACAGGAAGG -3'

Sequencing Primer
(F):5'- CGCTGGAAATAACCTCGTTCTGAAG -3'
(R):5'- TGTACAGGAAGGAGCCGTATTCTG -3'

Posted On

2018-05-24