Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01886:Clec7a'

179158

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clec7a

Ensembl Gene

ENSMUSG00000079293

Gene Name

C-type lectin domain family 7, member a

Synonyms

Clecsf12, dectin-1, beta-glucan receptor, beta-GR, BGR

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL01886

Quality Score

Status

Chromosome

Chromosomal Location

129461591-129472777 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 129463177 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112076] [ENSMUST00000184581] [ENSMUST00000195589]

AlphaFold

Q6QLQ4

Predicted Effect

probably benign
Transcript: ENSMUST00000112076

SMART Domains

Protein: ENSMUSP00000107707
Gene: ENSMUSG00000079293

Domain	Start	End	E-Value	Type
transmembrane domain	46	68	N/A	INTRINSIC
CLECT	119	241	2.01e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184581

SMART Domains

Protein: ENSMUSP00000139167
Gene: ENSMUSG00000079293

Domain	Start	End	E-Value	Type
low complexity region	48	69	N/A	INTRINSIC
CLECT	74	196	2.01e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195589

SMART Domains

Protein: ENSMUSP00000141234
Gene: ENSMUSG00000079293

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
CLECT	118	240	2.01e-24	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	C	T	12: 112,659,158	V136M	probably benign	Het
Ankrd34c	A	T	9: 89,730,265	L8M	possibly damaging	Het
Anks6	C	A	4: 47,044,850	W352L	probably damaging	Het
Arhgap12	A	T	18: 6,027,613	N768K	probably damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Cyp3a13	G	A	5: 137,898,820	P411S	probably damaging	Het
Elavl2	A	G	4: 91,264,093	V129A	probably damaging	Het
Ercc6	T	A	14: 32,569,580	S994T	possibly damaging	Het
Esco1	T	A	18: 10,595,262	K8I	probably damaging	Het
Esr1	T	A	10: 4,856,861	I259K	probably damaging	Het
Filip1l	A	G	16: 57,571,250	I734V	possibly damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Grin3a	T	A	4: 49,702,814	I891F	probably damaging	Het
Kat7	T	C	11: 95,306,133	T27A	probably benign	Het
Kdm1a	A	G	4: 136,561,016		probably null	Het
Kifc5b	T	C	17: 26,932,117	V663A	probably damaging	Het
Lama1	T	G	17: 67,807,797	S2314A	probably benign	Het
Lrrc69	C	T	4: 14,703,984	V279I	probably benign	Het
Mast3	A	T	8: 70,782,139	L774Q	possibly damaging	Het
Med27	C	A	2: 29,413,482	P9Q	probably damaging	Het
Myo5a	C	A	9: 75,169,090		probably benign	Het
Myoz1	T	C	14: 20,655,309	K14E	probably damaging	Het
Neb	T	C	2: 52,183,845		probably benign	Het
Nlrp1a	T	C	11: 71,123,501	T308A	probably benign	Het
Olfr364-ps1	A	G	2: 37,146,509	Y99C	probably damaging	Het
Olfr926	G	T	9: 38,877,548	C124F	probably damaging	Het
Orc1	T	A	4: 108,603,957		probably null	Het
Pnkp	G	A	7: 44,862,207	A76T	probably damaging	Het
Polr3h	T	C	15: 81,917,390	E95G	probably damaging	Het
Prpf40b	T	A	15: 99,304,447	M62K	unknown	Het
Prpf8	C	A	11: 75,495,744	Q1075K	probably benign	Het
Ptprg	A	G	14: 12,179,280	K766E	probably benign	Het
Rabgap1l	A	T	1: 160,342,042	N778K	probably damaging	Het
Riok3	T	A	18: 12,139,385	N204K	probably damaging	Het
Shank3	A	G	15: 89,531,663	K650E	probably damaging	Het
Sim1	T	A	10: 50,984,315	S758T	probably damaging	Het
Slu7	T	G	11: 43,439,260	N171K	probably damaging	Het
Sult6b2	A	G	6: 142,790,126		probably null	Het
Taf6l	C	T	19: 8,778,086		probably null	Het
Ubtfl1	G	A	9: 18,409,721	V182M	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Clec7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Clec7a	APN	6	129465486	missense	probably damaging	1.00
IGL01383:Clec7a	APN	6	129472640	missense	probably damaging	1.00
IGL01549:Clec7a	APN	6	129472677	nonsense	probably null
IGL01983:Clec7a	APN	6	129465576	splice site	probably benign
IGL02948:Clec7a	APN	6	129465478	missense	possibly damaging	0.92
R1210:Clec7a	UTSW	6	129465525	missense	probably damaging	0.96
R1469:Clec7a	UTSW	6	129472572	splice site	probably benign
R2126:Clec7a	UTSW	6	129470955	missense	probably benign	0.02
R2246:Clec7a	UTSW	6	129467569	missense	probably benign	0.27
R2887:Clec7a	UTSW	6	129470997	missense	probably damaging	1.00
R3901:Clec7a	UTSW	6	129468914	missense	possibly damaging	0.72
R5928:Clec7a	UTSW	6	129465467	missense	probably damaging	0.99
R7218:Clec7a	UTSW	6	129468922	missense	probably damaging	1.00
R8804:Clec7a	UTSW	6	129465555	missense	probably benign	0.37
R9066:Clec7a	UTSW	6	129467528	missense	probably benign
R9425:Clec7a	UTSW	6	129465551	missense	probably damaging	1.00

Posted On

2014-05-07