Mutagenetix > Incidental Mutation

Incidental Mutation 'R0010:Cldnd1'

7963

Institutional Source

Beutler Lab

Gene Symbol

Cldnd1

Ensembl Gene

ENSMUSG00000022744

Gene Name

claudin domain containing 1

Synonyms

1110019C08Rik, Cldn25

MMRRC Submission

038305-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R0010 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

58548269-58554610 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 58551622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124461 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023426] [ENSMUST00000159944] [ENSMUST00000162057] [ENSMUST00000162191]

AlphaFold

Q9CQX5

Predicted Effect

probably benign
Transcript: ENSMUST00000023426

SMART Domains

Protein: ENSMUSP00000023426
Gene: ENSMUSG00000022744

Domain	Start	End	E-Value	Type
Pfam:Claudin_2	17	235	9.2e-25	PFAM
Pfam:PMP22_Claudin	101	233	7.2e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159829

Predicted Effect

probably benign
Transcript: ENSMUST00000159944

SMART Domains

Protein: ENSMUSP00000124455
Gene: ENSMUSG00000022744

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162057

SMART Domains

Protein: ENSMUSP00000125497
Gene: ENSMUSG00000022744

Domain	Start	End	E-Value	Type
Pfam:Claudin_2	17	235	1.2e-24	PFAM
Pfam:PMP22_Claudin	101	233	7.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162191

SMART Domains

Protein: ENSMUSP00000124461
Gene: ENSMUSG00000022744

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162249

Coding Region Coverage

1x: 79.6%
3x: 70.9%
10x: 47.0%
20x: 26.4%

Validation Efficiency

91% (78/86)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	C	T	5: 81,940,250 (GRCm39)	A1320V	possibly damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,942,143 (GRCm39)	H124L	probably benign	Het
Cdk5rap2	T	C	4: 70,161,696 (GRCm39)	E270G	probably benign	Het
Dennd4a	T	C	9: 64,803,997 (GRCm39)	L1112P	probably benign	Het
Evc2	T	A	5: 37,574,793 (GRCm39)	L1016Q	probably damaging	Het
Fam135b	T	C	15: 71,493,881 (GRCm39)	K16R	probably damaging	Het
Frem1	T	C	4: 82,918,335 (GRCm39)	I536V	probably benign	Het
Ginm1	T	C	10: 7,651,138 (GRCm39)		probably benign	Het
Glrb	A	T	3: 80,767,622 (GRCm39)		probably benign	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gm10320	T	C	13: 98,626,054 (GRCm39)	Y110C	probably damaging	Het
Intu	T	C	3: 40,608,702 (GRCm39)		probably benign	Het
Ltbp1	A	G	17: 75,670,386 (GRCm39)	T1476A	probably damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Mitf	A	G	6: 97,784,242 (GRCm39)	K33R	probably benign	Het
Nlgn1	G	T	3: 25,490,006 (GRCm39)		probably benign	Het
Nup133	A	T	8: 124,631,318 (GRCm39)	I1072N	probably damaging	Het
Rock1	T	A	18: 10,084,380 (GRCm39)	D951V	probably damaging	Het
Scgb2b26	T	A	7: 33,643,774 (GRCm39)	E55D	probably damaging	Het
Scn8a	T	C	15: 100,911,454 (GRCm39)	V958A	probably damaging	Het
Sgk1	G	A	10: 21,873,337 (GRCm39)		probably null	Het
Shprh	C	T	10: 11,027,675 (GRCm39)	T94I	probably benign	Het
Smg1	A	T	7: 117,771,082 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,045,509 (GRCm39)	V1556I	probably benign	Het
Trappc14	T	C	5: 138,258,555 (GRCm39)		probably null	Het
Trappc4	G	A	9: 44,316,528 (GRCm39)		probably benign	Het
Txlna	T	G	4: 129,522,879 (GRCm39)	D487A	probably benign	Het
Ube2d2b	T	C	5: 107,978,502 (GRCm39)	F51S	possibly damaging	Het
Wdfy3	T	C	5: 101,996,215 (GRCm39)	T3234A	probably damaging	Het
Zbtb41	T	G	1: 139,351,268 (GRCm39)	V127G	probably damaging	Het
Zfp608	A	T	18: 55,028,286 (GRCm39)		probably benign	Het

Other mutations in Cldnd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03110:Cldnd1	APN	16	58,549,959 (GRCm39)	missense	possibly damaging	0.67
R0010:Cldnd1	UTSW	16	58,551,622 (GRCm39)	intron	probably benign
R0097:Cldnd1	UTSW	16	58,550,078 (GRCm39)	missense	possibly damaging	0.80
R0131:Cldnd1	UTSW	16	58,553,355 (GRCm39)	missense	probably damaging	1.00
R1577:Cldnd1	UTSW	16	58,553,016 (GRCm39)	missense	possibly damaging	0.79
R4745:Cldnd1	UTSW	16	58,550,006 (GRCm39)	missense	probably benign	0.21
R5323:Cldnd1	UTSW	16	58,550,016 (GRCm39)	missense	possibly damaging	0.77
R6226:Cldnd1	UTSW	16	58,551,663 (GRCm39)	critical splice acceptor site	probably null
R6987:Cldnd1	UTSW	16	58,551,734 (GRCm39)	missense	probably benign	0.09
R7337:Cldnd1	UTSW	16	58,549,322 (GRCm39)	splice site	probably null
R7476:Cldnd1	UTSW	16	58,549,907 (GRCm39)	missense	probably damaging	0.96
R7942:Cldnd1	UTSW	16	58,550,078 (GRCm39)	missense	possibly damaging	0.79
R9199:Cldnd1	UTSW	16	58,553,070 (GRCm39)	missense	probably damaging	1.00
Z1177:Cldnd1	UTSW	16	58,550,044 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-11-20