Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01471:Cldn1'

88271

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cldn1

Ensembl Gene

ENSMUSG00000022512

Gene Name

claudin 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01471

Quality Score

Status

Chromosome

Chromosomal Location

26175395-26190589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26190322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 19 (I19F)

Ref Sequence

ENSEMBL: ENSMUSP00000023154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023154]

AlphaFold

O88551

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023154
AA Change: I19F

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023154
Gene: ENSMUSG00000022512
AA Change: I19F

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	182	2e-54	PFAM
Pfam:Claudin_2	15	184	4.4e-10	PFAM
low complexity region	187	205	N/A	INTRINSIC

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. The knockout mice lacking this gene die soon after birth as a consequence of dehydration from trandermal water loss, indicating that this gene is indispensable for creating and maintaining the epidermal barrier. The protein encoded by this gene also has gastric tumor suppressive activity, and is a key factor for hepatitis C virus (HCV) entry. [provided by RefSeq, Aug 2010]
PHENOTYPE: Animals homozygous for a mutation in this gene have wrinkled skin and die within 1 day after birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1b	A	G	2: 24,547,304 (GRCm39)	S1226P	probably damaging	Het
Cdx2	A	G	5: 147,240,059 (GRCm39)	F206L	probably benign	Het
Inpp5f	T	C	7: 128,277,122 (GRCm39)	V406A	probably damaging	Het
Ly6m	A	G	15: 74,751,749 (GRCm39)	V95A	probably benign	Het
Myh4	C	T	11: 67,146,205 (GRCm39)	T1421M	probably damaging	Het
Pard3	A	G	8: 128,104,727 (GRCm39)	T490A	probably benign	Het
Rnf138	G	A	18: 21,157,578 (GRCm39)		probably null	Het
Slc12a4	T	C	8: 106,670,721 (GRCm39)	Y1084C	probably damaging	Het
Sppl2a	A	T	2: 126,759,787 (GRCm39)	L48*	probably null	Het
Trp53	C	A	11: 69,479,349 (GRCm39)	H173N	probably damaging	Het

Other mutations in Cldn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02937:Cldn1	APN	16	26,179,623 (GRCm39)	missense	probably damaging	1.00
R1626:Cldn1	UTSW	16	26,190,202 (GRCm39)	missense	probably damaging	1.00
R2131:Cldn1	UTSW	16	26,190,300 (GRCm39)	missense	probably damaging	0.98
R2264:Cldn1	UTSW	16	26,177,949 (GRCm39)	missense	probably damaging	1.00
R3778:Cldn1	UTSW	16	26,190,216 (GRCm39)	missense	probably damaging	1.00
R4850:Cldn1	UTSW	16	26,181,913 (GRCm39)	missense	probably benign	0.04
R5711:Cldn1	UTSW	16	26,190,167 (GRCm39)	missense	probably damaging	1.00
R5753:Cldn1	UTSW	16	26,181,871 (GRCm39)	missense	probably benign	0.01
R6017:Cldn1	UTSW	16	26,181,969 (GRCm39)	missense	probably damaging	1.00
R7134:Cldn1	UTSW	16	26,190,376 (GRCm39)	start codon destroyed	probably null	0.98
R7199:Cldn1	UTSW	16	26,190,346 (GRCm39)	missense	probably benign	0.06
R7373:Cldn1	UTSW	16	26,179,606 (GRCm39)	missense	probably damaging	1.00
R7600:Cldn1	UTSW	16	26,179,669 (GRCm39)	missense	probably benign
R7675:Cldn1	UTSW	16	26,190,261 (GRCm39)	missense	probably benign	0.00
R8840:Cldn1	UTSW	16	26,190,286 (GRCm39)	missense	possibly damaging	0.61
R9489:Cldn1	UTSW	16	26,181,924 (GRCm39)	missense	probably damaging	1.00
R9508:Cldn1	UTSW	16	26,179,619 (GRCm39)	nonsense	probably null
R9605:Cldn1	UTSW	16	26,181,924 (GRCm39)	missense	probably damaging	1.00
Z1177:Cldn1	UTSW	16	26,179,614 (GRCm39)	missense	probably damaging	0.98

Posted On

2013-11-18