Mutagenetix > Incidental Mutation

Incidental Mutation 'R0390:Tjp1'

31597

Institutional Source

Beutler Lab

Gene Symbol

Tjp1

Ensembl Gene

ENSMUSG00000030516

Gene Name

tight junction protein 1

Synonyms

ZO1, ZO-1

MMRRC Submission

038596-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0390 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65296165-65527781 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65314990 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 811 (D811G)

Ref Sequence

ENSEMBL: ENSMUSP00000146149 (fasta)

Gene Model

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

AlphaFold

P39447

Predicted Effect

probably damaging
Transcript: ENSMUST00000032729
AA Change: D811G

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

SMART Domains

Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: D811G

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: D811G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: D811G

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 damaging
Transcript: ENSMUST00000206612
AA Change: D811G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.3092

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 92.0%

Validation Efficiency

98% (110/112)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	T	A	18: 59,075,688 (GRCm38)	V136E	probably damaging	Het
Adam18	C	T	8: 24,674,054 (GRCm38)	G38R	probably benign	Het
Ap2m1	T	C	16: 20,541,099 (GRCm38)	M183T	probably damaging	Het
Apob	A	T	12: 7,988,678 (GRCm38)	I364F	probably damaging	Het
Arl6	A	T	16: 59,622,421 (GRCm38)		probably benign	Het
Cand2	A	G	6: 115,774,653 (GRCm38)	M15V	possibly damaging	Het
Cbl	A	G	9: 44,201,005 (GRCm38)	F131S	probably damaging	Het
Ccdc151	T	A	9: 21,991,708 (GRCm38)	H442L	probably benign	Het
Ccdc74a	A	G	16: 17,650,476 (GRCm38)	S321G	probably benign	Het
Cdc14b	T	C	13: 64,210,192 (GRCm38)		probably benign	Het
Cep152	T	C	2: 125,576,869 (GRCm38)		probably benign	Het
Cep290	A	G	10: 100,508,758 (GRCm38)	E479G	probably benign	Het
Chrm2	T	G	6: 36,524,111 (GRCm38)	I301R	probably benign	Het
Clec2e	A	G	6: 129,093,468 (GRCm38)	W197R	probably damaging	Het
Cnot10	G	T	9: 114,629,150 (GRCm38)	S96*	probably null	Het
Col19a1	A	G	1: 24,289,655 (GRCm38)		probably benign	Het
Csmd2	T	C	4: 128,133,673 (GRCm38)		probably benign	Het
Cthrc1	A	T	15: 39,086,764 (GRCm38)	*172L	probably null	Het
Cul9	A	T	17: 46,528,589 (GRCm38)	I821N	probably benign	Het
Daam1	G	C	12: 71,975,304 (GRCm38)		probably benign	Het
Dhx58	A	T	11: 100,699,264 (GRCm38)	I398N	probably damaging	Het
Dip2b	T	A	15: 100,193,913 (GRCm38)	H844Q	probably damaging	Het
Dmac2	A	G	7: 25,621,029 (GRCm38)	D50G	probably damaging	Het
Dmxl1	C	A	18: 49,879,362 (GRCm38)	Q1529K	probably benign	Het
Dtna	C	T	18: 23,597,501 (GRCm38)	P315L	probably damaging	Het
Ep300	T	C	15: 81,640,116 (GRCm38)	S1382P	unknown	Het
Fat2	A	T	11: 55,310,777 (GRCm38)	N490K	probably damaging	Het
Flg2	T	A	3: 93,200,355 (GRCm38)		probably benign	Het
Gm13084	T	A	4: 143,811,699 (GRCm38)	D234V	probably benign	Het
Gpatch1	T	C	7: 35,281,381 (GRCm38)		probably benign	Het
Grin2a	C	A	16: 9,579,585 (GRCm38)	K879N	possibly damaging	Het
Hacd3	A	C	9: 65,001,022 (GRCm38)	I164S	possibly damaging	Het
Hinfp	A	C	9: 44,298,948 (GRCm38)	C197G	probably damaging	Het
Hsd17b12	T	C	2: 94,114,990 (GRCm38)		probably benign	Het
Hsd3b1	A	T	3: 98,853,039 (GRCm38)	L212Q	probably damaging	Het
Ifrd1	C	T	12: 40,214,094 (GRCm38)		probably null	Het
Igf2bp2	A	G	16: 22,081,801 (GRCm38)	F129L	possibly damaging	Het
Kirrel3	T	A	9: 35,020,163 (GRCm38)	I409N	probably damaging	Het
Klhdc10	T	C	6: 30,447,412 (GRCm38)	I204T	probably damaging	Het
Kpna6	A	T	4: 129,657,804 (GRCm38)	S65R	possibly damaging	Het
Lama3	A	T	18: 12,407,563 (GRCm38)	D308V	probably benign	Het
Larp4b	T	A	13: 9,158,107 (GRCm38)		probably null	Het
Lgr6	C	T	1: 134,994,010 (GRCm38)	A199T	probably damaging	Het
Lyzl1	A	T	18: 4,169,175 (GRCm38)	T11S	probably benign	Het
Man1c1	A	G	4: 134,578,315 (GRCm38)	L366P	probably damaging	Het
Mef2a	A	G	7: 67,251,724 (GRCm38)	M100T	probably damaging	Het
Mettl13	G	A	1: 162,538,889 (GRCm38)	H474Y	possibly damaging	Het
Mmp3	A	G	9: 7,451,320 (GRCm38)	D352G	probably benign	Het
Mns1	T	C	9: 72,452,804 (GRCm38)	I412T	probably damaging	Het
Mon2	T	C	10: 123,007,021 (GRCm38)	D1501G	probably null	Het
Mylk	G	T	16: 34,875,620 (GRCm38)	G242W	probably damaging	Het
Nav1	T	C	1: 135,449,966 (GRCm38)	D1715G	possibly damaging	Het
Nckap1l	T	C	15: 103,453,883 (GRCm38)	S2P	probably damaging	Het
Nek3	A	T	8: 22,128,729 (GRCm38)		probably benign	Het
Nfrkb	A	G	9: 31,388,897 (GRCm38)		probably benign	Het
Nlrp4d	T	C	7: 10,388,778 (GRCm38)	D53G	probably benign	Het
Nol8	T	C	13: 49,662,152 (GRCm38)	S561P	probably damaging	Het
Nuf2	A	C	1: 169,525,297 (GRCm38)		probably benign	Het
Ofcc1	T	A	13: 40,015,313 (GRCm38)	D866V	possibly damaging	Het
Olfr195	A	G	16: 59,149,299 (GRCm38)	I150V	probably benign	Het
Optn	A	G	2: 5,046,195 (GRCm38)	L125P	probably benign	Het
Otoa	T	A	7: 121,131,341 (GRCm38)	F588Y	probably benign	Het
Pappa	T	A	4: 65,351,613 (GRCm38)		probably null	Het
Pde5a	T	G	3: 122,835,583 (GRCm38)	C635W	probably damaging	Het
Pdgfb	A	T	15: 80,003,419 (GRCm38)		probably null	Het
Pih1d2	T	A	9: 50,621,046 (GRCm38)	C135S	probably damaging	Het
Plcg1	G	T	2: 160,752,366 (GRCm38)	C361F	probably damaging	Het
Ppp4r4	T	C	12: 103,601,360 (GRCm38)		probably benign	Het
Prdm10	G	A	9: 31,349,268 (GRCm38)		probably null	Het
Prex2	T	A	1: 11,089,706 (GRCm38)		probably null	Het
Prss56	T	G	1: 87,184,730 (GRCm38)		probably null	Het
Prtg	A	G	9: 72,844,958 (GRCm38)	K209E	probably benign	Het
Ptprc	G	A	1: 138,122,575 (GRCm38)	T36I	possibly damaging	Het
Rasgrp4	A	G	7: 29,145,860 (GRCm38)	Y302C	probably damaging	Het
Rb1cc1	T	A	1: 6,248,634 (GRCm38)	M759K	probably damaging	Het
Rbm15b	T	A	9: 106,885,998 (GRCm38)	M324L	probably benign	Het
Rcbtb2	T	C	14: 73,178,547 (GRCm38)	V500A	probably damaging	Het
Rgs6	A	G	12: 83,133,677 (GRCm38)	K434R	probably damaging	Het
Rims1	C	T	1: 22,596,526 (GRCm38)	A125T	possibly damaging	Het
Robo3	A	G	9: 37,422,177 (GRCm38)	V746A	probably benign	Het
Rtl1	C	T	12: 109,591,386 (GRCm38)	E1340K	unknown	Het
Sacs	G	A	14: 61,205,640 (GRCm38)	D1712N	possibly damaging	Het
Samd4b	G	A	7: 28,403,977 (GRCm38)	P19S	probably benign	Het
Samhd1	T	C	2: 157,114,231 (GRCm38)	Y347C	probably damaging	Het
Sema6d	T	A	2: 124,658,490 (GRCm38)	I393N	probably damaging	Het
Sigmar1	C	T	4: 41,741,243 (GRCm38)	A4T	probably benign	Het
Skint9	C	A	4: 112,389,179 (GRCm38)	L245F	probably benign	Het
Slc35f5	T	C	1: 125,585,095 (GRCm38)	L372P	probably damaging	Het
Smc1b	A	T	15: 85,066,277 (GRCm38)	I1182N	probably damaging	Het
Smyd3	A	G	1: 178,957,573 (GRCm38)		probably benign	Het
Sptlc1	T	C	13: 53,337,612 (GRCm38)	D417G	probably benign	Het
Sv2c	T	C	13: 96,088,708 (GRCm38)	N31S	probably benign	Het
Top2b	A	G	14: 16,418,442 (GRCm38)	T1221A	probably benign	Het
Tph2	T	C	10: 115,174,109 (GRCm38)	D182G	probably damaging	Het
Traf6	C	T	2: 101,688,588 (GRCm38)	Q141*	probably null	Het
Ttn	T	C	2: 76,756,931 (GRCm38)	D21574G	probably damaging	Het
Uba2	T	A	7: 34,151,021 (GRCm38)	N367I	probably benign	Het
Ube2b	T	C	11: 51,988,602 (GRCm38)		probably benign	Het
Ubr5	G	T	15: 38,030,672 (GRCm38)	L426I	probably benign	Het
Ugt2a2	T	A	5: 87,464,148 (GRCm38)	H301L	probably benign	Het
Upf2	T	A	2: 6,018,894 (GRCm38)		probably benign	Het
Utrn	T	C	10: 12,710,060 (GRCm38)	D991G	probably benign	Het
Vmn2r25	T	C	6: 123,823,181 (GRCm38)	D734G	probably damaging	Het
Vmn2r68	T	A	7: 85,233,249 (GRCm38)		probably benign	Het
Vmn2r68	C	G	7: 85,233,258 (GRCm38)		probably null	Het
Vwf	T	A	6: 125,626,361 (GRCm38)	Y891*	probably null	Het
Wwox	C	T	8: 114,706,278 (GRCm38)	T228I	probably benign	Het
Zer1	C	T	2: 30,108,213 (GRCm38)		probably benign	Het
Zfp180	C	T	7: 24,104,707 (GRCm38)	H184Y	possibly damaging	Het
Zfp68	A	T	5: 138,607,225 (GRCm38)	Y279N	probably benign	Het

Other mutations in Tjp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Tjp1	APN	7	65,301,219 (GRCm38)	missense	probably benign
IGL00848:Tjp1	APN	7	65,303,194 (GRCm38)	missense	probably benign	0.00
IGL01363:Tjp1	APN	7	65,302,965 (GRCm38)	missense	possibly damaging	0.94
IGL01526:Tjp1	APN	7	65,322,658 (GRCm38)	missense	probably damaging	1.00
IGL01607:Tjp1	APN	7	65,336,178 (GRCm38)	missense	possibly damaging	0.94
IGL02223:Tjp1	APN	7	65,322,601 (GRCm38)	missense	probably damaging	1.00
IGL02341:Tjp1	APN	7	65,312,634 (GRCm38)	missense	probably damaging	1.00
IGL02347:Tjp1	APN	7	65,301,064 (GRCm38)	critical splice donor site	probably null
IGL02452:Tjp1	APN	7	65,312,655 (GRCm38)	missense	probably damaging	1.00
IGL02512:Tjp1	APN	7	65,343,667 (GRCm38)	missense	probably damaging	1.00
IGL02552:Tjp1	APN	7	65,299,782 (GRCm38)	nonsense	probably null
IGL02707:Tjp1	APN	7	65,329,682 (GRCm38)	missense	possibly damaging	0.85
IGL02707:Tjp1	APN	7	65,329,683 (GRCm38)	nonsense	probably null
IGL02939:Tjp1	APN	7	65,314,890 (GRCm38)	missense	probably damaging	1.00
IGL03139:Tjp1	APN	7	65,340,434 (GRCm38)	splice site	probably benign
IGL03273:Tjp1	APN	7	65,299,799 (GRCm38)	missense	probably damaging	1.00
IGL03391:Tjp1	APN	7	65,314,969 (GRCm38)	missense	probably damaging	1.00
PIT4453001:Tjp1	UTSW	7	65,343,614 (GRCm38)	critical splice donor site	probably null
R0012:Tjp1	UTSW	7	65,329,775 (GRCm38)	splice site	probably benign
R0012:Tjp1	UTSW	7	65,329,775 (GRCm38)	splice site	probably benign
R0519:Tjp1	UTSW	7	65,302,921 (GRCm38)	missense	probably benign
R0653:Tjp1	UTSW	7	65,314,755 (GRCm38)	missense	probably damaging	1.00
R1163:Tjp1	UTSW	7	65,323,054 (GRCm38)	missense	probably damaging	1.00
R1544:Tjp1	UTSW	7	65,302,921 (GRCm38)	missense	probably benign
R1634:Tjp1	UTSW	7	65,302,952 (GRCm38)	missense	possibly damaging	0.94
R1767:Tjp1	UTSW	7	65,312,553 (GRCm38)	critical splice donor site	probably null
R1771:Tjp1	UTSW	7	65,313,005 (GRCm38)	missense	probably benign	0.45
R1794:Tjp1	UTSW	7	65,323,129 (GRCm38)	missense	probably damaging	1.00
R1874:Tjp1	UTSW	7	65,319,253 (GRCm38)	missense	probably damaging	1.00
R1971:Tjp1	UTSW	7	65,324,078 (GRCm38)	missense	probably damaging	1.00
R1981:Tjp1	UTSW	7	65,312,855 (GRCm38)	missense	probably damaging	0.99
R2086:Tjp1	UTSW	7	65,312,921 (GRCm38)	missense	probably damaging	1.00
R2310:Tjp1	UTSW	7	65,329,742 (GRCm38)	missense	possibly damaging	0.90
R2942:Tjp1	UTSW	7	65,318,006 (GRCm38)	missense	probably damaging	1.00
R3974:Tjp1	UTSW	7	65,297,639 (GRCm38)	nonsense	probably null
R4295:Tjp1	UTSW	7	65,323,150 (GRCm38)	missense	probably damaging	1.00
R4296:Tjp1	UTSW	7	65,318,489 (GRCm38)	missense	probably damaging	1.00
R4567:Tjp1	UTSW	7	65,306,501 (GRCm38)	missense	probably damaging	1.00
R4574:Tjp1	UTSW	7	65,322,605 (GRCm38)	missense	probably damaging	1.00
R4910:Tjp1	UTSW	7	65,343,727 (GRCm38)	missense	probably damaging	1.00
R4958:Tjp1	UTSW	7	65,336,102 (GRCm38)	nonsense	probably null
R5267:Tjp1	UTSW	7	65,323,049 (GRCm38)	missense	probably damaging	1.00
R5371:Tjp1	UTSW	7	65,313,311 (GRCm38)	nonsense	probably null
R5422:Tjp1	UTSW	7	65,302,967 (GRCm38)	missense	probably damaging	0.99
R5514:Tjp1	UTSW	7	65,354,861 (GRCm38)	missense	probably damaging	1.00
R5652:Tjp1	UTSW	7	65,312,443 (GRCm38)	splice site	probably null
R5693:Tjp1	UTSW	7	65,342,663 (GRCm38)	missense	possibly damaging	0.96
R5933:Tjp1	UTSW	7	65,302,852 (GRCm38)	missense	probably benign	0.29
R6043:Tjp1	UTSW	7	65,324,089 (GRCm38)	missense	probably damaging	1.00
R6416:Tjp1	UTSW	7	65,313,205 (GRCm38)	missense	possibly damaging	0.76
R6491:Tjp1	UTSW	7	65,337,117 (GRCm38)	missense	possibly damaging	0.62
R6525:Tjp1	UTSW	7	65,343,651 (GRCm38)	missense	probably damaging	1.00
R6658:Tjp1	UTSW	7	65,301,077 (GRCm38)	missense	possibly damaging	0.82
R6917:Tjp1	UTSW	7	65,299,688 (GRCm38)	missense	probably damaging	0.99
R6960:Tjp1	UTSW	7	65,303,015 (GRCm38)	missense	possibly damaging	0.59
R7235:Tjp1	UTSW	7	65,318,573 (GRCm38)	missense	probably benign	0.16
R7274:Tjp1	UTSW	7	65,527,652 (GRCm38)	missense	possibly damaging	0.86
R7471:Tjp1	UTSW	7	65,314,690 (GRCm38)	missense	probably damaging	0.99
R7475:Tjp1	UTSW	7	65,322,339 (GRCm38)	missense	probably damaging	1.00
R7479:Tjp1	UTSW	7	65,301,180 (GRCm38)	missense	probably damaging	0.98
R8035:Tjp1	UTSW	7	65,342,702 (GRCm38)	missense	probably benign	0.34
R8195:Tjp1	UTSW	7	65,343,722 (GRCm38)	missense	probably damaging	1.00
R8276:Tjp1	UTSW	7	65,343,796 (GRCm38)	intron	probably benign
R8817:Tjp1	UTSW	7	65,303,062 (GRCm38)	missense	probably benign	0.41
R8869:Tjp1	UTSW	7	65,336,638 (GRCm38)	missense	probably damaging	1.00
R9043:Tjp1	UTSW	7	65,312,931 (GRCm38)	missense	probably benign	0.03
R9079:Tjp1	UTSW	7	65,301,218 (GRCm38)	missense	possibly damaging	0.77
R9081:Tjp1	UTSW	7	65,314,262 (GRCm38)	missense	possibly damaging	0.71
R9095:Tjp1	UTSW	7	65,302,997 (GRCm38)	missense	possibly damaging	0.82
R9145:Tjp1	UTSW	7	65,302,816 (GRCm38)	missense	probably benign	0.00
R9215:Tjp1	UTSW	7	65,312,847 (GRCm38)	missense	probably benign
R9581:Tjp1	UTSW	7	65,299,724 (GRCm38)	missense	probably damaging	1.00
R9665:Tjp1	UTSW	7	65,312,896 (GRCm38)	missense	probably benign
R9738:Tjp1	UTSW	7	65,336,632 (GRCm38)	missense	probably benign	0.00
X0022:Tjp1	UTSW	7	65,302,841 (GRCm38)	missense	possibly damaging	0.75
X0027:Tjp1	UTSW	7	65,314,759 (GRCm38)	missense	probably benign	0.18
Z1177:Tjp1	UTSW	7	65,343,732 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCGAATGCTTGCTGCTTACCTG -3'
(R):5'- AGCCTCTGTTTGATTCATCCAAGCC -3'

Sequencing Primer
(F):5'- TCTCTTACAGGCTCAGAGGAC -3'
(R):5'- ATCTCAGGGGATGCTATGTATATC -3'

Posted On

2013-04-24