Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01767:Cldn23'

153370

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 #

IGL01767

Quality Score

Status

Chromosome

Chromosomal Location

36291866-36293713 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36292816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 224 (Y224C)

Ref Sequence

ENSEMBL: ENSMUSP00000049725 (fasta)

Gene Model

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

AlphaFold

Q9D7D7

Predicted Effect

probably damaging
Transcript: ENSMUST00000060128
AA Change: Y224C

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

SMART Domains

Protein: ENSMUSP00000049725
Gene: ENSMUSG00000055976
AA Change: Y224C

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	A	T	8: 60,960,126 (GRCm39)	D31V	probably damaging	Het
Acaca	A	T	11: 84,211,368 (GRCm39)	Y1560F	probably benign	Het
Actl7a	A	G	4: 56,743,980 (GRCm39)	E169G	probably damaging	Het
Adgrb3	A	G	1: 25,598,895 (GRCm39)	V270A	probably benign	Het
Adgre4	G	A	17: 56,104,740 (GRCm39)	V269I	probably benign	Het
Ankhd1	A	G	18: 36,781,427 (GRCm39)	T2160A	probably damaging	Het
Bltp1	T	C	3: 37,095,512 (GRCm39)	V4505A	probably benign	Het
Bnip2	T	A	9: 69,909,398 (GRCm39)		probably benign	Het
Casp16	A	G	17: 23,771,027 (GRCm39)	V126A	probably damaging	Het
Ccser1	C	A	6: 61,695,136 (GRCm39)	T157K	probably benign	Het
Cdh23	A	G	10: 60,151,503 (GRCm39)	S2459P	probably damaging	Het
Cdk5rap3	A	T	11: 96,804,291 (GRCm39)	C21S	probably damaging	Het
Chmp6	G	A	11: 119,807,812 (GRCm39)	E72K	probably benign	Het
Cry1	C	T	10: 84,982,338 (GRCm39)	G336D	probably damaging	Het
Cyp4f17	T	A	17: 32,725,956 (GRCm39)	F30I	probably benign	Het
Dgcr8	T	A	16: 18,096,200 (GRCm39)	D496V	probably damaging	Het
Dhx9	A	G	1: 153,344,614 (GRCm39)		probably benign	Het
Dnah10	C	T	5: 124,820,801 (GRCm39)		probably benign	Het
Dock9	T	C	14: 121,860,282 (GRCm39)	E880G	possibly damaging	Het
Dscam	A	G	16: 96,456,136 (GRCm39)	V1264A	probably damaging	Het
Eno1	T	C	4: 150,331,167 (GRCm39)	Y270H	probably benign	Het
Eprs1	A	G	1: 185,117,112 (GRCm39)	D385G	probably damaging	Het
Ercc2	A	G	7: 19,124,346 (GRCm39)	Y215C	probably damaging	Het
Fscn2	A	G	11: 120,258,576 (GRCm39)	N400S	possibly damaging	Het
Fuca1	C	T	4: 135,666,512 (GRCm39)	T449I	probably benign	Het
Gm43638	T	C	5: 87,613,290 (GRCm39)	K492E	probably damaging	Het
Gm5263	T	G	1: 146,296,302 (GRCm39)		noncoding transcript	Het
Gm8122	T	C	14: 43,090,158 (GRCm39)	T111A	unknown	Het
Gtf3c2	T	A	5: 31,314,979 (GRCm39)	N923Y	probably benign	Het
Il17a	T	A	1: 20,803,864 (GRCm39)	D86E	probably benign	Het
Itgb2l	G	T	16: 96,231,775 (GRCm39)	N330K	probably benign	Het
Kcnj11	T	C	7: 45,748,489 (GRCm39)	H278R	probably benign	Het
Khdrbs2	T	A	1: 32,658,257 (GRCm39)	Y272*	probably null	Het
Kndc1	A	T	7: 139,509,959 (GRCm39)	Q1267L	probably damaging	Het
Loxhd1	T	A	18: 77,374,120 (GRCm39)	F64I	possibly damaging	Het
Lrig2	T	A	3: 104,398,861 (GRCm39)	K222N	probably benign	Het
Lrrcc1	T	A	3: 14,612,332 (GRCm39)	Y378N	probably damaging	Het
Mblac2	T	C	13: 81,898,434 (GRCm39)	L270P	probably damaging	Het
Med13	A	T	11: 86,210,609 (GRCm39)	I511N	probably benign	Het
Myo3a	A	T	2: 22,428,033 (GRCm39)	E763D	probably damaging	Het
Or1e25	T	A	11: 73,493,858 (GRCm39)	F151I	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or4a68	C	T	2: 89,270,144 (GRCm39)	V160I	probably benign	Het
Or5b97	T	A	19: 12,879,112 (GRCm39)	T11S	probably benign	Het
Or7g27	G	A	9: 19,250,598 (GRCm39)	V281I	possibly damaging	Het
Plxna4	T	A	6: 32,214,613 (GRCm39)	I623F	possibly damaging	Het
Ppp2ca	T	A	11: 52,008,882 (GRCm39)	Y127*	probably null	Het
Psg18	A	G	7: 18,087,322 (GRCm39)	V112A	possibly damaging	Het
Ptprj	A	T	2: 90,299,918 (GRCm39)	N108K	probably benign	Het
Rictor	A	G	15: 6,806,865 (GRCm39)	Y707C	probably damaging	Het
Rptn	T	C	3: 93,302,946 (GRCm39)	F93S	probably benign	Het
Rxrg	T	A	1: 167,454,884 (GRCm39)	C156S	probably damaging	Het
Slc24a4	T	C	12: 102,189,946 (GRCm39)		probably benign	Het
Slc25a27	C	T	17: 43,974,964 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,808,112 (GRCm39)	K481E	probably benign	Het
Snx19	T	C	9: 30,374,560 (GRCm39)	W940R	possibly damaging	Het
Spopfm1	T	A	3: 94,173,791 (GRCm39)	D262E	probably benign	Het
Tasor2	G	A	13: 3,626,633 (GRCm39)	P1106S	probably benign	Het
Tcf20	G	A	15: 82,740,209 (GRCm39)	P414L	probably damaging	Het
Treml2	T	C	17: 48,609,838 (GRCm39)	V90A	probably benign	Het
Uckl1	C	T	2: 181,211,327 (GRCm39)	V501M	probably damaging	Het
Unc79	C	T	12: 103,108,256 (GRCm39)	T1937I	probably damaging	Het
Vmn2r17	A	T	5: 109,567,903 (GRCm39)	I9F	probably benign	Het
Vmn2r44	T	C	7: 8,383,237 (GRCm39)	H119R	probably benign	Het
Vmn2r78	A	G	7: 86,603,643 (GRCm39)	D607G	probably benign	Het
Vps13a	C	T	19: 16,641,258 (GRCm39)	G2288D	probably damaging	Het
Znfx1	G	T	2: 166,897,643 (GRCm39)	T427N	probably damaging	Het

Other mutations in Cldn23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01667:Cldn23	APN	8	36,293,074 (GRCm39)	missense	possibly damaging	0.81
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

2014-02-04