Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03260:Cldn34b3'

414784

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 #

IGL03260

Quality Score

Status

Chromosome

Chromosomal Location

75307912-75311279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75310479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 16 (T16A)

Ref Sequence

ENSEMBL: ENSMUSP00000094120 (fasta)

Gene Model

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

AlphaFold

Q80ZS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000096389
AA Change: T16A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000094120
Gene: ENSMUSG00000071738
AA Change: T16A

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	A	G	10: 20,187,071 (GRCm39)		probably benign	Het
Abca12	A	G	1: 71,323,258 (GRCm39)	L1608P	probably damaging	Het
Akr1b8	G	T	6: 34,340,394 (GRCm39)		probably benign	Het
Appbp2	A	G	11: 85,107,283 (GRCm39)	V69A	probably benign	Het
Ces1e	T	C	8: 93,950,545 (GRCm39)	N79D	probably benign	Het
Frmd4b	A	T	6: 97,373,185 (GRCm39)	F103Y	probably damaging	Het
Ifi47	T	C	11: 48,986,932 (GRCm39)	F233S	probably damaging	Het
Igkv8-30	A	T	6: 70,094,339 (GRCm39)	M24K	probably damaging	Het
Krt72	C	T	15: 101,686,708 (GRCm39)	A413T	probably damaging	Het
Lingo4	A	G	3: 94,309,250 (GRCm39)	T63A	probably benign	Het
Naa35	T	G	13: 59,775,699 (GRCm39)	S125A	probably benign	Het
Or6c76	T	C	10: 129,612,521 (GRCm39)	V261A	probably damaging	Het
Or6z7	A	T	7: 6,483,658 (GRCm39)	C166S	probably damaging	Het
Padi1	T	C	4: 140,555,505 (GRCm39)	H240R	probably benign	Het
Ppp1r12a	A	G	10: 108,097,106 (GRCm39)	T240A	probably benign	Het
Ppp2ca	A	G	11: 52,003,975 (GRCm39)	N44S	probably damaging	Het
Prg4	T	A	1: 150,331,378 (GRCm39)		probably benign	Het
Rab33a	A	G	X: 47,608,545 (GRCm39)	E23G	probably benign	Het
Scarb2	G	T	5: 92,594,296 (GRCm39)	A422E	probably damaging	Het
Scn4b	A	T	9: 45,058,987 (GRCm39)	N86I	probably damaging	Het
Serpina1d	G	A	12: 103,730,108 (GRCm39)	T358I	probably damaging	Het
Slc12a3	T	A	8: 95,059,870 (GRCm39)	I172N	probably damaging	Het
Slc18a1	T	C	8: 69,527,766 (GRCm39)	E15G	probably benign	Het
Snx7	A	G	3: 117,575,942 (GRCm39)		probably benign	Het
Srpx	T	A	X: 9,921,987 (GRCm39)	K216*	probably null	Het
Ugt2a3	G	A	5: 87,484,439 (GRCm39)	P195L	probably damaging	Het
Unc13c	A	G	9: 73,838,626 (GRCm39)	S742P	probably benign	Het
Vmn2r104	C	T	17: 20,263,083 (GRCm39)	C126Y	probably benign	Het
Vmn2r63	A	T	7: 42,578,616 (GRCm39)	N92K	probably damaging	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
IGL01514:Cldn34b3	APN	X	75,310,680 (GRCm39)	missense	probably damaging	0.99
R2235:Cldn34b3	UTSW	X	75,310,830 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02