Mutagenetix > Incidental Mutation

Incidental Mutation 'R7218:Clec1a'

561587

Institutional Source

Beutler Lab

Gene Symbol

Clec1a

Ensembl Gene

ENSMUSG00000033082

Gene Name

C-type lectin domain family 1, member a

Synonyms

5930406N14Rik

MMRRC Submission

045290-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129403647-129428963 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 129413918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 57 (C57Y)

Ref Sequence

ENSEMBL: ENSMUSP00000047065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037481] [ENSMUST00000203162] [ENSMUST00000204012] [ENSMUST00000204952]

AlphaFold

Q8BWY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000037481
AA Change: C57Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047065
Gene: ENSMUSG00000033082
AA Change: C57Y

Domain	Start	End	E-Value	Type
Blast:CLECT	1	48	9e-23	BLAST
transmembrane domain	49	71	N/A	INTRINSIC
coiled coil region	82	120	N/A	INTRINSIC
CLECT	136	257	7.55e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000203162
AA Change: C57Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144896
Gene: ENSMUSG00000033082
AA Change: C57Y

Domain	Start	End	E-Value	Type
Blast:CLECT	1	48	1e-23	BLAST
transmembrane domain	50	72	N/A	INTRINSIC
coiled coil region	82	120	N/A	INTRINSIC
CLECT	136	205	5.1e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204012

SMART Domains

Protein: ENSMUSP00000145071
Gene: ENSMUSG00000033082

Domain	Start	End	E-Value	Type
Blast:CLECT	1	37	3e-16	BLAST
coiled coil region	49	87	N/A	INTRINSIC
PDB:1MPU\|A	100	146	2e-9	PDB
SCOP:d1k9ja_	100	146	3e-13	SMART
Blast:CLECT	103	165	2e-42	BLAST

Predicted Effect

silent
Transcript: ENSMUST00000204952

SMART Domains

Protein: ENSMUSP00000145497
Gene: ENSMUSG00000033082

Domain	Start	End	E-Value	Type
Blast:CLECT	1	41	1e-17	BLAST

Meta Mutation Damage Score

0.8224

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The encoded protein may play a role in regulating dendritic cell function. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	T	C	17: 46,043,977 (GRCm39)	T94A	unknown	Het
1700025G04Rik	T	C	1: 151,791,259 (GRCm39)	R101G	probably damaging	Het
6430548M08Rik	T	A	8: 120,872,322 (GRCm39)	S83R	probably damaging	Het
Actn2	A	G	13: 12,293,799 (GRCm39)	S574P	probably benign	Het
Ank	A	T	15: 27,544,407 (GRCm39)	Y56F	probably damaging	Het
Ano7	A	G	1: 93,308,191 (GRCm39)	D74G	probably benign	Het
Apaf1	T	A	10: 90,872,864 (GRCm39)	T738S	probably damaging	Het
Apcs	A	T	1: 172,722,231 (GRCm39)	D38E	possibly damaging	Het
Asap1	G	A	15: 64,002,099 (GRCm39)	T404M	probably damaging	Het
Atp8a1	T	A	5: 67,860,324 (GRCm39)	D717V		Het
Baiap2l1	A	G	5: 144,212,687 (GRCm39)	S443P	probably benign	Het
Bmal1	A	T	7: 112,886,390 (GRCm39)	H149L	probably damaging	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
C1qtnf6	T	C	15: 78,411,574 (GRCm39)	E34G	probably benign	Het
Chil3	A	C	3: 106,067,853 (GRCm39)		probably null	Het
Chmp4c	T	A	3: 10,432,198 (GRCm39)	L36Q	probably damaging	Het
Chrna2	T	A	14: 66,381,320 (GRCm39)		probably null	Het
Clec7a	G	T	6: 129,445,885 (GRCm39)	T95K	probably damaging	Het
Csf1r	C	A	18: 61,263,396 (GRCm39)	S926R	probably damaging	Het
Dnajc9	A	G	14: 20,438,507 (GRCm39)	I61T	probably benign	Het
Extl1	T	G	4: 134,087,080 (GRCm39)	S493R	probably benign	Het
Fance	A	G	17: 28,545,148 (GRCm39)	D143G	probably benign	Het
Fcho2	C	T	13: 98,890,121 (GRCm39)		probably null	Het
Filip1	T	C	9: 79,725,356 (GRCm39)	S1088G	probably benign	Het
Gnat1	A	C	9: 107,553,184 (GRCm39)	M319R	possibly damaging	Het
Gpr132	A	T	12: 112,816,049 (GRCm39)	V259E	probably damaging	Het
Gprc5d	T	A	6: 135,093,452 (GRCm39)	M152L	probably benign	Het
Hif3a	C	T	7: 16,784,513 (GRCm39)	R244H	probably damaging	Het
Hivep3	T	C	4: 119,952,649 (GRCm39)	S322P	possibly damaging	Het
Il33	T	A	19: 29,936,325 (GRCm39)	F229I	probably damaging	Het
Il4ra	A	G	7: 125,174,950 (GRCm39)	D386G	probably benign	Het
Ino80	G	T	2: 119,288,608 (GRCm39)	H33N	probably benign	Het
Ip6k1	A	G	9: 107,922,781 (GRCm39)	D228G	unknown	Het
Mamdc2	C	T	19: 23,424,974 (GRCm39)	A40T	probably benign	Het
Meis3	T	C	7: 15,918,626 (GRCm39)	V357A	probably benign	Het
Mycbp2	T	C	14: 103,371,282 (GRCm39)	T4199A	probably benign	Het
Myo7b	A	T	18: 32,114,054 (GRCm39)	M1099K	probably benign	Het
Mzb1	A	T	18: 35,780,975 (GRCm39)	H104Q	probably benign	Het
Nfatc2	A	G	2: 168,413,184 (GRCm39)	L167P	probably benign	Het
Numa1	A	T	7: 101,650,117 (GRCm39)	S1283C	probably benign	Het
Nup98	T	G	7: 101,841,107 (GRCm39)		probably null	Het
Or13p4	T	C	4: 118,547,215 (GRCm39)	I145V	probably benign	Het
Or5p55	T	C	7: 107,566,874 (GRCm39)	L90P	probably benign	Het
Pkhd1l1	A	G	15: 44,386,091 (GRCm39)	T1243A	possibly damaging	Het
Pramel39-ps	C	A	5: 94,451,113 (GRCm39)	V338F	probably benign	Het
Ptpro	C	T	6: 137,431,596 (GRCm39)	R1152W	probably damaging	Het
Ptprt	T	C	2: 161,389,284 (GRCm39)	T1270A	probably damaging	Het
Pwwp2b	A	C	7: 138,836,049 (GRCm39)	T497P	probably damaging	Het
Rab44	T	A	17: 29,358,418 (GRCm39)	V202E		Het
Rbfox1	C	T	16: 7,111,947 (GRCm39)	T191I	probably damaging	Het
Rufy4	A	G	1: 74,172,174 (GRCm39)	K299R	probably damaging	Het
Snip1	T	A	4: 124,966,712 (GRCm39)	S381T	probably damaging	Het
Spen	T	C	4: 141,199,961 (GRCm39)	I2889V	possibly damaging	Het
Spopfm2	A	T	3: 94,082,856 (GRCm39)	H318Q	possibly damaging	Het
St3gal3	T	A	4: 117,814,639 (GRCm39)	D218V		Het
Sun1	A	G	5: 139,212,442 (GRCm39)	T70A	unknown	Het
Tbc1d23	C	T	16: 56,990,745 (GRCm39)	V678M	probably damaging	Het
Tdh	T	A	14: 63,733,206 (GRCm39)	Y195F	probably damaging	Het
Tescl	C	T	7: 24,033,286 (GRCm39)	R13H	possibly damaging	Het
Tfap2c	T	A	2: 172,399,277 (GRCm39)	M508K	probably benign	Het
Trappc4	A	G	9: 44,316,587 (GRCm39)	M136T	probably benign	Het
Tyk2	A	G	9: 21,016,350 (GRCm39)	C1207R	probably damaging	Het
Ugt2b36	T	C	5: 87,229,398 (GRCm39)	Y355C	probably damaging	Het
Vmn1r119	T	A	7: 20,745,572 (GRCm39)	H270L	probably benign	Het
Vmn2r20	G	A	6: 123,363,074 (GRCm39)	P570L	probably damaging	Het
Wnk1	A	C	6: 119,979,234 (GRCm39)	Y284*	probably null	Het
Yars2	C	T	16: 16,121,182 (GRCm39)	A112V	probably damaging	Het
Zer1	T	C	2: 29,995,024 (GRCm39)	N470S	probably damaging	Het
Zfp747l1	A	T	7: 126,983,852 (GRCm39)	S417T	probably benign	Het
Zfp879	A	C	11: 50,723,508 (GRCm39)	V516G	possibly damaging	Het

Other mutations in Clec1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Truck	UTSW	6	129,413,918 (GRCm39)	missense	probably damaging	1.00
Turnip	UTSW	6	129,406,946 (GRCm39)	missense	probably benign	0.21
R1666:Clec1a	UTSW	6	129,413,967 (GRCm39)	missense	probably benign	0.07
R2413:Clec1a	UTSW	6	129,412,218 (GRCm39)	missense	probably damaging	1.00
R6400:Clec1a	UTSW	6	129,412,316 (GRCm39)	splice site	probably null
R6921:Clec1a	UTSW	6	129,405,827 (GRCm39)	missense	probably damaging	1.00
R6961:Clec1a	UTSW	6	129,406,946 (GRCm39)	missense	probably benign	0.21
R7944:Clec1a	UTSW	6	129,409,150 (GRCm39)	missense	probably benign
R7945:Clec1a	UTSW	6	129,409,150 (GRCm39)	missense	probably benign
R8787:Clec1a	UTSW	6	129,428,617 (GRCm39)	missense	possibly damaging	0.94
R9215:Clec1a	UTSW	6	129,412,134 (GRCm39)	missense	possibly damaging	0.59
R9255:Clec1a	UTSW	6	129,409,208 (GRCm39)	missense	probably benign	0.00
R9275:Clec1a	UTSW	6	129,428,564 (GRCm39)	splice site	probably benign
R9449:Clec1a	UTSW	6	129,428,606 (GRCm39)	missense	probably benign
Z1177:Clec1a	UTSW	6	129,406,870 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GCTTGCTGTGTTTCAATACTTCAAC -3'
(R):5'- TTTGTGGCCAAGACTCTGAGG -3'

Sequencing Primer
(F):5'- GGTCCTGCATAAACTGAGA -3'
(R):5'- TCTGAGGACAGAGGACAAAGTCC -3'

Posted On

2019-06-26