Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02948:Clec7a'

364856

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

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

IGL02948

Quality Score

Status

Chromosome

Chromosomal Location

129438554-129449742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 129442441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 195 (D195E)

Ref Sequence

ENSEMBL: ENSMUSP00000107707 (fasta)

Gene Model

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

AlphaFold

Q6QLQ4

PDB Structure

STRUCTURE OF MURINE DECTIN-1 [X-RAY DIFFRACTION]
STRUCTURE OF MURINE DECTIN-1 [X-RAY DIFFRACTION]
STRUCTURE OF MURINE DECTIN-1 [X-RAY DIFFRACTION]
DECTIN-1 IN COMPLEX WITH BETA-GLUCAN [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112076
AA Change: D195E

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107707
Gene: ENSMUSG00000079293
AA Change: D195E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184581
AA Change: D150E

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139167
Gene: ENSMUSG00000079293
AA Change: D150E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195589
AA Change: D195E

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141234
Gene: ENSMUSG00000079293
AA Change: D195E

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,094,318 (GRCm39)		probably benign	Het
Ano3	A	T	2: 110,527,363 (GRCm39)		probably benign	Het
Arpp21	T	C	9: 112,005,268 (GRCm39)	Y193C	probably damaging	Het
Atm	G	A	9: 53,364,740 (GRCm39)		probably benign	Het
Ceacam13	C	T	7: 17,744,988 (GRCm39)		probably benign	Het
Cenpi	T	A	X: 133,250,017 (GRCm39)	C599S	possibly damaging	Het
Cnksr1	T	C	4: 133,962,417 (GRCm39)		probably null	Het
Cntn1	A	G	15: 92,143,891 (GRCm39)	T285A	probably benign	Het
Dusp4	G	T	8: 35,285,726 (GRCm39)	G329V	probably damaging	Het
Emb	C	A	13: 117,409,602 (GRCm39)		probably benign	Het
Esyt1	A	T	10: 128,355,040 (GRCm39)	S496T	probably damaging	Het
Evpl	T	C	11: 116,112,648 (GRCm39)	T1681A	probably damaging	Het
Fam131b	A	C	6: 42,297,926 (GRCm39)		probably benign	Het
Fam162b	T	C	10: 51,463,392 (GRCm39)	M92V	probably damaging	Het
Fbxw2	T	C	2: 34,695,723 (GRCm39)	*455W	probably null	Het
Gm12886	A	G	4: 121,280,234 (GRCm39)	L14P	unknown	Het
Gpc4	A	T	X: 51,163,178 (GRCm39)	V235E	probably damaging	Het
Gss	A	G	2: 155,419,541 (GRCm39)	L170P	probably damaging	Het
Hbs1l	C	T	10: 21,217,610 (GRCm39)		probably benign	Het
Hhatl	T	C	9: 121,618,857 (GRCm39)	M92V	probably benign	Het
Hhla1	A	T	15: 65,814,542 (GRCm39)	L194H	probably damaging	Het
Hivep2	C	A	10: 14,004,757 (GRCm39)	R452S	probably benign	Het
Homer2	C	A	7: 81,299,393 (GRCm39)	W24L	probably damaging	Het
Lhcgr	A	T	17: 89,050,050 (GRCm39)	L492H	probably damaging	Het
Lrba	C	A	3: 86,217,691 (GRCm39)		probably null	Het
Lrp2	G	T	2: 69,318,181 (GRCm39)	P2090Q	probably damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Madd	T	A	2: 90,973,172 (GRCm39)	M1497L	probably benign	Het
Naprt	C	T	15: 75,764,206 (GRCm39)	R336Q	probably damaging	Het
Nars1	A	G	18: 64,638,266 (GRCm39)	C266R	possibly damaging	Het
Or10v1	T	A	19: 11,874,145 (GRCm39)	Y253*	probably null	Het
Or5k8	T	A	16: 58,644,451 (GRCm39)	Q207L	probably benign	Het
Pard3	A	T	8: 128,032,975 (GRCm39)	T190S	probably benign	Het
Pstpip2	A	G	18: 77,942,507 (GRCm39)	N86S	probably benign	Het
Ptgfrn	T	C	3: 100,980,135 (GRCm39)	T402A	probably benign	Het
Rnf130	T	C	11: 49,943,598 (GRCm39)		probably benign	Het
Ropn1l	T	C	15: 31,451,325 (GRCm39)	D53G	possibly damaging	Het
Rps6ka2	G	A	17: 7,521,849 (GRCm39)		probably null	Het
Rtn2	T	C	7: 19,027,036 (GRCm39)	S17P	probably damaging	Het
Shank2	T	C	7: 143,963,373 (GRCm39)	V327A	probably benign	Het
Slc22a16	T	G	10: 40,449,958 (GRCm39)	Y131*	probably null	Het
Slc28a2	T	A	2: 122,288,458 (GRCm39)	M583K	possibly damaging	Het
Slco1a6	G	T	6: 142,078,961 (GRCm39)		probably null	Het
Slfn8	T	A	11: 82,894,078 (GRCm39)	I854F	probably damaging	Het
Strip1	T	C	3: 107,520,582 (GRCm39)	R823G	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tcl1b5	C	T	12: 105,145,273 (GRCm39)	T79M	probably benign	Het
Tmem104	G	T	11: 115,088,122 (GRCm39)	A36S	probably damaging	Het
Trim55	T	A	3: 19,725,116 (GRCm39)	L211Q	probably damaging	Het
Trim80	T	C	11: 115,332,419 (GRCm39)	W204R	possibly damaging	Het
Ttbk1	G	A	17: 46,757,256 (GRCm39)	T1126I	probably benign	Het
Ubqln2	C	T	X: 152,282,692 (GRCm39)	Q415*	probably null	Het
Unc13a	C	T	8: 72,103,193 (GRCm39)	R931H	possibly damaging	Het
Utp4	T	A	8: 107,621,273 (GRCm39)	S17T	probably benign	Het

Other mutations in Clec7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Clec7a	APN	6	129,442,449 (GRCm39)	missense	probably damaging	1.00
IGL01383:Clec7a	APN	6	129,449,603 (GRCm39)	missense	probably damaging	1.00
IGL01549:Clec7a	APN	6	129,449,640 (GRCm39)	nonsense	probably null
IGL01886:Clec7a	APN	6	129,440,140 (GRCm39)	splice site	probably benign
IGL01983:Clec7a	APN	6	129,442,539 (GRCm39)	splice site	probably benign
R1210:Clec7a	UTSW	6	129,442,488 (GRCm39)	missense	probably damaging	0.96
R1469:Clec7a	UTSW	6	129,449,535 (GRCm39)	splice site	probably benign
R2126:Clec7a	UTSW	6	129,447,918 (GRCm39)	missense	probably benign	0.02
R2246:Clec7a	UTSW	6	129,444,532 (GRCm39)	missense	probably benign	0.27
R2887:Clec7a	UTSW	6	129,447,960 (GRCm39)	missense	probably damaging	1.00
R3901:Clec7a	UTSW	6	129,445,877 (GRCm39)	missense	possibly damaging	0.72
R5928:Clec7a	UTSW	6	129,442,430 (GRCm39)	missense	probably damaging	0.99
R7218:Clec7a	UTSW	6	129,445,885 (GRCm39)	missense	probably damaging	1.00
R8804:Clec7a	UTSW	6	129,442,518 (GRCm39)	missense	probably benign	0.37
R9066:Clec7a	UTSW	6	129,444,491 (GRCm39)	missense	probably benign
R9425:Clec7a	UTSW	6	129,442,514 (GRCm39)	missense	probably damaging	1.00
R9474:Clec7a	UTSW	6	129,440,126 (GRCm39)	nonsense	probably null

Posted On

2015-12-18