Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01667:Cldn23'

103331

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cldn23

Ensembl Gene

ENSMUSG00000055976

Gene Name

claudin 23

Synonyms

2310014B08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL01667

Quality Score

Status

Chromosome

Chromosomal Location

36291866-36293713 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36293074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 138 (F138S)

Ref Sequence

ENSEMBL: ENSMUSP00000049725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060128]

AlphaFold

Q9D7D7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060128
AA Change: F138S

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000049725
Gene: ENSMUSG00000055976
AA Change: F138S

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	3	177	6e-19	PFAM
low complexity region	273	284	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210370

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This 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. This gene is intronless and the protein encoded by this gene is 77% identical to the human homolog. [provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	A	G	7: 75,219,767 (GRCm39)	T57A	probably damaging	Het
Akna	G	T	4: 63,297,396 (GRCm39)	T886N	probably benign	Het
Aqp9	A	G	9: 71,045,495 (GRCm39)	V38A	probably benign	Het
Awat2	C	T	X: 99,447,860 (GRCm39)	G124D	probably damaging	Het
Camsap1	A	G	2: 25,835,293 (GRCm39)		probably benign	Het
Catsperg2	T	C	7: 29,409,558 (GRCm39)	Y545C	probably damaging	Het
Clec4a3	A	C	6: 122,929,819 (GRCm39)		probably benign	Het
Dlgap3	C	A	4: 127,127,690 (GRCm39)	T786K	probably benign	Het
Dnah2	A	C	11: 69,435,221 (GRCm39)	S50A	probably benign	Het
Dnah2	A	T	11: 69,411,767 (GRCm39)	I285N	probably damaging	Het
Dnah7a	A	G	1: 53,586,451 (GRCm39)	Y1467H	probably damaging	Het
Fgf22	C	T	10: 79,592,588 (GRCm39)	P115L	probably damaging	Het
Fzd2	G	T	11: 102,496,608 (GRCm39)	V351L	possibly damaging	Het
Gapdhs	T	A	7: 30,436,062 (GRCm39)	E174V	possibly damaging	Het
Gjc2	A	C	11: 59,068,344 (GRCm39)	I46S	probably damaging	Het
Gm5581	T	C	6: 131,144,735 (GRCm39)		noncoding transcript	Het
Krt1c	C	A	15: 101,724,765 (GRCm39)	V282L	possibly damaging	Het
Myh15	G	A	16: 49,015,942 (GRCm39)	V1873M	probably benign	Het
Myo1b	T	C	1: 51,799,536 (GRCm39)	T931A	probably damaging	Het
Myo6	A	T	9: 80,197,175 (GRCm39)	K965N	unknown	Het
Or5a3	T	C	19: 12,400,120 (GRCm39)	V149A	probably benign	Het
Pcnx3	T	C	19: 5,736,658 (GRCm39)	R160G	probably benign	Het
Slc22a16	T	C	10: 40,461,014 (GRCm39)	I272T	probably damaging	Het
Slc35b4	A	G	6: 34,144,610 (GRCm39)	Y82H	possibly damaging	Het
Spdya	T	C	17: 71,863,254 (GRCm39)	M1T	probably null	Het
St6gal1	A	G	16: 23,140,174 (GRCm39)	N115S	probably benign	Het
Tbc1d12	A	T	19: 38,902,744 (GRCm39)		probably benign	Het
Tfrc	A	G	16: 32,443,261 (GRCm39)		probably benign	Het
Trip11	A	C	12: 101,845,121 (GRCm39)	F1539C	probably damaging	Het
Ttn	A	T	2: 76,611,422 (GRCm39)	I15624N	possibly damaging	Het
Vmn1r169	A	T	7: 23,277,225 (GRCm39)	M206L	probably benign	Het
Zfp362	A	G	4: 128,680,902 (GRCm39)	L141P	probably damaging	Het
Zfp692	A	G	11: 58,202,379 (GRCm39)	H378R	probably damaging	Het
Zfp799	T	C	17: 33,040,794 (GRCm39)	Q52R	possibly damaging	Het

Other mutations in Cldn23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01767:Cldn23	APN	8	36,292,816 (GRCm39)	missense	probably damaging	1.00
IGL02078:Cldn23	APN	8	36,293,359 (GRCm39)	missense	possibly damaging	0.94
IGL03346:Cldn23	APN	8	36,292,594 (GRCm39)	intron	probably benign
R1610:Cldn23	UTSW	8	36,293,084 (GRCm39)	missense	probably damaging	1.00
R1753:Cldn23	UTSW	8	36,293,140 (GRCm39)	missense	possibly damaging	0.94
R1915:Cldn23	UTSW	8	36,293,099 (GRCm39)	missense	possibly damaging	0.69
R2121:Cldn23	UTSW	8	36,293,389 (GRCm39)	missense	probably benign
R4342:Cldn23	UTSW	8	36,292,652 (GRCm39)	missense	probably benign	0.00
R5167:Cldn23	UTSW	8	36,293,474 (GRCm39)	missense	possibly damaging	0.89
R5207:Cldn23	UTSW	8	36,293,182 (GRCm39)	missense	probably damaging	1.00
R6102:Cldn23	UTSW	8	36,292,705 (GRCm39)	missense	probably benign	0.00
R7106:Cldn23	UTSW	8	36,293,069 (GRCm39)	missense	probably benign
R7363:Cldn23	UTSW	8	36,292,659 (GRCm39)	critical splice donor site	probably null
R7721:Cldn23	UTSW	8	36,293,417 (GRCm39)	missense	possibly damaging	0.89
R8119:Cldn23	UTSW	8	36,293,056 (GRCm39)	missense	probably damaging	0.99
R9011:Cldn23	UTSW	8	36,292,826 (GRCm39)	missense	probably damaging	1.00
R9504:Cldn23	UTSW	8	36,293,470 (GRCm39)	missense	probably damaging	1.00
Z1176:Cldn23	UTSW	8	36,293,431 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-01-21