Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02888:Cldn8'

363067

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cldn8

Ensembl Gene

ENSMUSG00000050520

Gene Name

claudin 8

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

IGL02888

Quality Score

Status

Chromosome

Chromosomal Location

88357716-88360071 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88359271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 218 (I218K)

Ref Sequence

ENSEMBL: ENSMUSP00000051887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049697]

AlphaFold

Q9Z260

Predicted Effect

probably benign
Transcript: ENSMUST00000049697
AA Change: I218K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000051887
Gene: ENSMUSG00000050520
AA Change: I218K

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	182	2.9e-32	PFAM
Pfam:Claudin_2	15	184	5.6e-10	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This intronless gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a paracellular cation barrier. [provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 44,104,610 (GRCm39)	H345R	probably damaging	Het
Afap1l1	T	A	18: 61,881,879 (GRCm39)	Y272F	probably damaging	Het
AI661453	C	A	17: 47,778,329 (GRCm39)		probably benign	Het
Ajap1	T	G	4: 153,516,718 (GRCm39)	I208L	probably benign	Het
Aldh3b2	G	A	19: 4,030,083 (GRCm39)	V356M	probably benign	Het
Angptl7	T	A	4: 148,580,788 (GRCm39)		probably benign	Het
Atp2a3	G	A	11: 72,867,954 (GRCm39)		probably benign	Het
Birc2	T	C	9: 7,819,559 (GRCm39)	D451G	probably benign	Het
Brpf3	G	A	17: 29,047,365 (GRCm39)	R1043H	probably damaging	Het
Cd177	A	G	7: 24,457,862 (GRCm39)	L132P	probably damaging	Het
Chsy3	A	G	18: 59,543,067 (GRCm39)	D735G	probably benign	Het
Cltc	T	C	11: 86,648,123 (GRCm39)		probably benign	Het
Col22a1	T	C	15: 71,718,068 (GRCm39)	H619R	unknown	Het
Crxos	G	A	7: 15,636,855 (GRCm39)	E143K	possibly damaging	Het
Dcp1b	A	G	6: 119,197,048 (GRCm39)		probably benign	Het
Ddc	A	G	11: 11,772,297 (GRCm39)		probably benign	Het
Dnajc13	A	T	9: 104,057,261 (GRCm39)		probably benign	Het
Dnajc27	C	T	12: 4,139,186 (GRCm39)	H75Y	possibly damaging	Het
Fgd3	C	T	13: 49,435,292 (GRCm39)		probably null	Het
Gcc2	A	G	10: 58,130,650 (GRCm39)	D1414G	probably damaging	Het
Gtf3c2	G	A	5: 31,331,169 (GRCm39)	P169L	probably damaging	Het
Ighv1-76	T	A	12: 115,811,566 (GRCm39)	S96C	probably damaging	Het
Lmbrd1	T	A	1: 24,754,053 (GRCm39)	I206K	possibly damaging	Het
Lypd5	A	G	7: 24,052,044 (GRCm39)	S120G	probably damaging	Het
Mgat4b	T	A	11: 50,123,159 (GRCm39)	Y249N	probably damaging	Het
Msh4	A	T	3: 153,602,550 (GRCm39)	L32*	probably null	Het
Muc4	A	G	16: 32,575,656 (GRCm39)		probably benign	Het
Myo6	A	G	9: 80,177,013 (GRCm39)		probably benign	Het
Nenf	T	C	1: 191,042,118 (GRCm39)	T113A	probably benign	Het
Nup85	A	G	11: 115,469,626 (GRCm39)	D75G	possibly damaging	Het
Nutm1	A	T	2: 112,080,980 (GRCm39)	L438Q	probably damaging	Het
Oas1h	A	T	5: 120,999,610 (GRCm39)	I32F	probably benign	Het
Oasl1	G	A	5: 115,075,241 (GRCm39)	V434M	probably damaging	Het
Or2a5	A	G	6: 42,874,263 (GRCm39)	N293D	probably damaging	Het
Or9s27	T	C	1: 92,516,925 (GRCm39)	L291P	probably damaging	Het
Pde2a	C	A	7: 101,154,276 (GRCm39)	H549Q	probably damaging	Het
Phkb	G	T	8: 86,662,101 (GRCm39)		probably null	Het
Pigm	T	C	1: 172,205,214 (GRCm39)	C317R	probably damaging	Het
Ppl	A	T	16: 4,918,271 (GRCm39)	S470R	possibly damaging	Het
Pramel14	G	A	4: 143,720,669 (GRCm39)	R91W	probably benign	Het
Slc13a4	A	T	6: 35,245,775 (GRCm39)	D623E	probably benign	Het
Stx11	A	G	10: 12,817,359 (GRCm39)	S122P	possibly damaging	Het
Sytl3	A	G	17: 7,000,483 (GRCm39)	T218A	probably benign	Het
Tango6	A	G	8: 107,447,297 (GRCm39)	D565G	probably damaging	Het
Tex14	T	C	11: 87,418,738 (GRCm39)		probably null	Het
Tinag	T	C	9: 76,938,995 (GRCm39)	D161G	probably benign	Het
Vcpip1	T	C	1: 9,795,011 (GRCm39)	D1120G	probably damaging	Het
Zfp446	G	A	7: 12,713,255 (GRCm39)	A98T	probably damaging	Het

Other mutations in Cldn8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0038:Cldn8	UTSW	16	88,359,922 (GRCm39)	start codon destroyed	probably null	1.00
R0038:Cldn8	UTSW	16	88,359,922 (GRCm39)	start codon destroyed	probably null	1.00
R0332:Cldn8	UTSW	16	88,359,246 (GRCm39)	synonymous	silent
R0690:Cldn8	UTSW	16	88,359,527 (GRCm39)	missense	probably damaging	1.00
R1496:Cldn8	UTSW	16	88,359,289 (GRCm39)	missense	probably benign
R1832:Cldn8	UTSW	16	88,359,746 (GRCm39)	missense	probably benign	0.07
R3052:Cldn8	UTSW	16	88,359,619 (GRCm39)	missense	probably damaging	1.00
R3053:Cldn8	UTSW	16	88,359,619 (GRCm39)	missense	probably damaging	1.00
R4428:Cldn8	UTSW	16	88,359,619 (GRCm39)	missense	probably damaging	1.00
R4429:Cldn8	UTSW	16	88,359,619 (GRCm39)	missense	probably damaging	1.00
R4430:Cldn8	UTSW	16	88,359,619 (GRCm39)	missense	probably damaging	1.00
R4431:Cldn8	UTSW	16	88,359,619 (GRCm39)	missense	probably damaging	1.00
R4465:Cldn8	UTSW	16	88,359,619 (GRCm39)	missense	probably damaging	1.00
R4485:Cldn8	UTSW	16	88,359,619 (GRCm39)	missense	probably damaging	1.00
R4659:Cldn8	UTSW	16	88,359,296 (GRCm39)	missense	probably benign
R4660:Cldn8	UTSW	16	88,359,296 (GRCm39)	missense	probably benign
R4662:Cldn8	UTSW	16	88,359,296 (GRCm39)	missense	probably benign
R4679:Cldn8	UTSW	16	88,359,296 (GRCm39)	missense	probably benign
R4741:Cldn8	UTSW	16	88,359,296 (GRCm39)	missense	probably benign
R6591:Cldn8	UTSW	16	88,359,423 (GRCm39)	missense	possibly damaging	0.73
R6691:Cldn8	UTSW	16	88,359,423 (GRCm39)	missense	possibly damaging	0.73
R7684:Cldn8	UTSW	16	88,359,335 (GRCm39)	missense	probably damaging	1.00
R7959:Cldn8	UTSW	16	88,359,829 (GRCm39)	missense	probably damaging	1.00
R8987:Cldn8	UTSW	16	88,359,733 (GRCm39)	missense	probably damaging	1.00
R9065:Cldn8	UTSW	16	88,359,902 (GRCm39)	missense	probably benign
R9756:Cldn8	UTSW	16	88,359,917 (GRCm39)	missense	probably benign	0.38

Posted On

2015-12-18