Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01514:Cldn34b3'

89301

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cldn34b3

Ensembl Gene

ENSMUSG00000071738

Gene Name

claudin 34B3

Synonyms

Gm4937

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01514

Quality Score

Status

Chromosome

Chromosomal Location

75307912-75311279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75310680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 83 (I83F)

Ref Sequence

ENSEMBL: ENSMUSP00000094120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096389]

AlphaFold

Q80ZS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000096389
AA Change: I83F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000094120
Gene: ENSMUSG00000071738
AA Change: I83F

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	7	194	2.6e-9	PFAM
Pfam:Claudin_2	17	196	9e-14	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	A	G	2: 93,669,587 (GRCm39)		probably benign	Het
Actl7b	T	C	4: 56,740,677 (GRCm39)	Y227C	probably damaging	Het
Adam26a	A	T	8: 44,021,485 (GRCm39)	H668Q	probably benign	Het
Alcam	A	T	16: 52,094,653 (GRCm39)		probably benign	Het
Aldh3a2	C	T	11: 61,144,624 (GRCm39)		probably benign	Het
Atp11b	G	T	3: 35,891,130 (GRCm39)	G801V	probably damaging	Het
C3	G	A	17: 57,522,866 (GRCm39)	T1006I	probably benign	Het
Cacna2d4	T	C	6: 119,259,134 (GRCm39)		probably benign	Het
Clec2g	G	A	6: 128,925,736 (GRCm39)	M48I	probably benign	Het
Coch	A	G	12: 51,650,136 (GRCm39)	D375G	probably damaging	Het
Erbb2	C	T	11: 98,323,745 (GRCm39)	T653I	possibly damaging	Het
Etv3	A	G	3: 87,443,025 (GRCm39)	H203R	possibly damaging	Het
Fat4	A	G	3: 39,003,683 (GRCm39)	R1801G	possibly damaging	Het
Gars1	T	A	6: 55,042,505 (GRCm39)	S413T	probably benign	Het
Gnat1	G	A	9: 107,553,500 (GRCm39)	R253C	possibly damaging	Het
Hook3	A	T	8: 26,578,217 (GRCm39)	L91I	possibly damaging	Het
Lrp8	T	C	4: 107,712,881 (GRCm39)	Y377H	probably damaging	Het
Lztr1	G	A	16: 17,340,255 (GRCm39)		probably null	Het
Malt1	A	G	18: 65,609,471 (GRCm39)	D825G	possibly damaging	Het
Nlrp9b	T	C	7: 19,779,859 (GRCm39)		probably null	Het
Or1x2	C	T	11: 50,918,416 (GRCm39)	R196*	probably null	Het
Or2v2	A	T	11: 49,004,403 (GRCm39)	I50N	probably damaging	Het
Orc1	A	G	4: 108,459,249 (GRCm39)	R473G	probably damaging	Het
Pard6g	G	A	18: 80,160,661 (GRCm39)	R258H	probably damaging	Het
Pkdrej	T	C	15: 85,702,264 (GRCm39)	D1224G	possibly damaging	Het
Polr1e	A	G	4: 45,018,723 (GRCm39)	T18A	probably benign	Het
Pycr3	T	C	15: 75,788,853 (GRCm39)	T240A	probably damaging	Het
Ralgapa1	C	A	12: 55,766,442 (GRCm39)	G1284V	probably damaging	Het
Rcl1	T	C	19: 29,120,698 (GRCm39)		probably benign	Het
Sec24c	C	T	14: 20,732,839 (GRCm39)	T134I	possibly damaging	Het
Sis	A	G	3: 72,843,253 (GRCm39)		probably benign	Het
Susd5	A	C	9: 113,897,947 (GRCm39)		probably benign	Het
Tlk1	T	C	2: 70,582,610 (GRCm39)	N173S	probably benign	Het
Uroc1	T	C	6: 90,340,082 (GRCm39)		probably benign	Het

Other mutations in Cldn34b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:Cldn34b3	APN	X	75,310,978 (GRCm39)	missense	possibly damaging	0.59
IGL03260:Cldn34b3	APN	X	75,310,479 (GRCm39)	missense	probably damaging	0.96
R2235:Cldn34b3	UTSW	X	75,310,830 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-12-03