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: 0.115) question?

Stock #

R0010 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

58727910-58734251 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 58731259 bp (GRCm38)

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: 81,792,403	A1320V	possibly damaging	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
BC037034	T	C	5: 138,260,293		probably null	Het
Cd74	A	T	18: 60,809,071	H124L	probably benign	Het
Cdk5rap2	T	C	4: 70,243,459	E270G	probably benign	Het
Dennd4a	T	C	9: 64,896,715	L1112P	probably benign	Het
Evc2	T	A	5: 37,417,449	L1016Q	probably damaging	Het
Fam135b	T	C	15: 71,622,032	K16R	probably damaging	Het
Frem1	T	C	4: 83,000,098	I536V	probably benign	Het
Ginm1	T	C	10: 7,775,374		probably benign	Het
Glrb	A	T	3: 80,860,315		probably benign	Het
Glt6d1	C	A	2: 25,794,727		probably null	Het
Gm10320	T	C	13: 98,489,546	Y110C	probably damaging	Het
Intu	T	C	3: 40,654,272		probably benign	Het
Ltbp1	A	G	17: 75,363,391	T1476A	probably damaging	Het
Mcoln2	C	T	3: 146,183,561	T374M	probably damaging	Het
Mitf	A	G	6: 97,807,281	K33R	probably benign	Het
Nlgn1	G	T	3: 25,435,842		probably benign	Het
Nup133	A	T	8: 123,904,579	I1072N	probably damaging	Het
Rock1	T	A	18: 10,084,380	D951V	probably damaging	Het
Scgb2b26	T	A	7: 33,944,349	E55D	probably damaging	Het
Scn8a	T	C	15: 101,013,573	V958A	probably damaging	Het
Sgk1	G	A	10: 21,997,438		probably null	Het
Shprh	C	T	10: 11,151,931	T94I	probably benign	Het
Smg1	A	T	7: 118,171,859		probably benign	Het
Spta1	G	A	1: 174,217,943	V1556I	probably benign	Het
Trappc4	G	A	9: 44,405,231		probably benign	Het
Txlna	T	G	4: 129,629,086	D487A	probably benign	Het
Ube2d2b	T	C	5: 107,830,636	F51S	possibly damaging	Het
Wdfy3	T	C	5: 101,848,349	T3234A	probably damaging	Het
Zbtb41	T	G	1: 139,423,530	V127G	probably damaging	Het
Zfp608	A	T	18: 54,895,214		probably benign	Het

Other mutations in Cldnd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03110:Cldnd1	APN	16	58729596	missense	possibly damaging	0.67
R0010:Cldnd1	UTSW	16	58731259	intron	probably benign
R0097:Cldnd1	UTSW	16	58729715	missense	possibly damaging	0.80
R0131:Cldnd1	UTSW	16	58732992	missense	probably damaging	1.00
R1577:Cldnd1	UTSW	16	58732653	missense	possibly damaging	0.79
R4745:Cldnd1	UTSW	16	58729643	missense	probably benign	0.21
R5323:Cldnd1	UTSW	16	58729653	missense	possibly damaging	0.77
R6226:Cldnd1	UTSW	16	58731300	critical splice acceptor site	probably null
R6987:Cldnd1	UTSW	16	58731371	missense	probably benign	0.09
R7337:Cldnd1	UTSW	16	58728959	splice site	probably null
R7476:Cldnd1	UTSW	16	58729544	missense	probably damaging	0.96
R7942:Cldnd1	UTSW	16	58729715	missense	possibly damaging	0.79
R9199:Cldnd1	UTSW	16	58732707	missense	probably damaging	1.00
Z1177:Cldnd1	UTSW	16	58729681	missense	probably damaging	1.00

Posted On

2012-11-20