Mutagenetix > Incidental Mutation

Incidental Mutation 'R0382:Clec14a'

31034

Institutional Source

Beutler Lab

Gene Symbol

Clec14a

Ensembl Gene

ENSMUSG00000045930

Gene Name

C-type lectin domain family 14, member a

Synonyms

1200003C23Rik

MMRRC Submission

038588-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R0382 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58311506-58316044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58315403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 73 (V73A)

Ref Sequence

ENSEMBL: ENSMUSP00000054451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062254]

AlphaFold

Q8VCP9

Predicted Effect

probably damaging
Transcript: ENSMUST00000062254
AA Change: V73A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054451
Gene: ENSMUSG00000045930
AA Change: V73A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
CLECT	31	172	1.4e-5	SMART
EGF	246	288	1.85e0	SMART
transmembrane domain	388	410	N/A	INTRINSIC

Meta Mutation Damage Score

0.6660

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

98% (58/59)

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 signalling, glycoprotein turnover, and roles in inflammation and immune response. This family member plays a role in cell-cell adhesion and angiogenesis. It functions in filopodia formation, cell migration and tube formation. Due to its presence at higher levels in tumor endothelium than in normal tissue endothelium, it is considered to be a candidate for tumor vascular targeting. [provided by RefSeq, Jan 2012]
PHENOTYPE: No notable pheontype was detected in a high-throughput screen of homozygous mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	T	6: 86,923,901 (GRCm39)	Q266L	probably benign	Het
Abca13	T	C	11: 9,586,650 (GRCm39)		probably benign	Het
Adap2	T	C	11: 80,069,211 (GRCm39)		probably benign	Het
Adgrb2	C	G	4: 129,901,624 (GRCm39)	P416R	probably damaging	Het
Brinp1	T	C	4: 68,680,545 (GRCm39)	R662G	possibly damaging	Het
Celsr3	C	A	9: 108,706,417 (GRCm39)	P967T	probably damaging	Het
Ces1b	T	C	8: 93,802,680 (GRCm39)		probably benign	Het
Ckm	T	C	7: 19,155,309 (GRCm39)	*382Q	probably null	Het
Cmya5	A	T	13: 93,229,256 (GRCm39)	V1944E	probably benign	Het
Col6a6	T	A	9: 105,632,754 (GRCm39)	D1473V	probably damaging	Het
Cttnbp2	A	G	6: 18,435,342 (GRCm39)	M172T	probably benign	Het
Dcaf12	T	C	4: 41,302,672 (GRCm39)	N161S	probably damaging	Het
Dnah17	T	C	11: 118,019,822 (GRCm39)	Y75C	probably damaging	Het
Efcab7	T	C	4: 99,758,966 (GRCm39)	V388A	possibly damaging	Het
Fat3	A	G	9: 15,871,052 (GRCm39)	C3780R	probably damaging	Het
Fbxl14	T	C	6: 119,458,021 (GRCm39)	*401R	probably null	Het
Fbxo5	G	T	10: 5,751,176 (GRCm39)	Y270*	probably null	Het
Fnbp1l	A	T	3: 122,364,602 (GRCm39)		probably benign	Het
Fstl3	T	C	10: 79,613,141 (GRCm39)	S3P	probably benign	Het
Gpatch1	T	C	7: 35,001,080 (GRCm39)	D309G	probably damaging	Het
Gstcd	A	T	3: 132,692,169 (GRCm39)	L582H	probably damaging	Het
Klk6	A	G	7: 43,478,669 (GRCm39)	D192G	probably benign	Het
Lrp6	A	G	6: 134,444,631 (GRCm39)	S1080P	probably damaging	Het
Lztfl1	T	C	9: 123,536,971 (GRCm39)		probably null	Het
Mov10l1	A	G	15: 88,869,796 (GRCm39)	Y59C	possibly damaging	Het
Natd1	C	T	11: 60,797,739 (GRCm39)	R62H	probably damaging	Het
Obscn	T	C	11: 58,931,132 (GRCm39)	T5835A	probably damaging	Het
Or4c31	A	T	2: 88,292,069 (GRCm39)	R147S	possibly damaging	Het
Or5j3	A	G	2: 86,128,937 (GRCm39)	Y259C	probably damaging	Het
Or6c66b	T	C	10: 129,376,883 (GRCm39)	I159T	probably benign	Het
Or7a38	T	A	10: 78,752,960 (GRCm39)	Y95*	probably null	Het
P2rx2	T	A	5: 110,489,045 (GRCm39)	E289V	probably benign	Het
Patl1	T	A	19: 11,902,596 (GRCm39)		probably null	Het
Ptprf	A	G	4: 118,080,591 (GRCm39)		probably benign	Het
Qrfpr	C	T	3: 36,235,118 (GRCm39)	C253Y	possibly damaging	Het
Rad21l	A	T	2: 151,487,363 (GRCm39)	D540E	probably damaging	Het
Rbm45	T	A	2: 76,200,555 (GRCm39)	I28N	possibly damaging	Het
Rnf170	A	T	8: 26,615,927 (GRCm39)		probably benign	Het
Sgsm3	G	A	15: 80,892,515 (GRCm39)	W280*	probably null	Het
Slc9a9	A	T	9: 94,567,270 (GRCm39)	H113L	probably benign	Het
Slc9b2	G	T	3: 135,024,183 (GRCm39)	C78F	probably damaging	Het
Slfn10-ps	T	A	11: 82,920,360 (GRCm39)		noncoding transcript	Het
Slfn8	T	A	11: 82,895,382 (GRCm39)	I475F	probably damaging	Het
Stox2	A	G	8: 47,656,319 (GRCm39)		probably benign	Het
Strbp	A	T	2: 37,490,838 (GRCm39)	N472K	probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tmem39a	A	G	16: 38,411,760 (GRCm39)		probably benign	Het
Trpc4ap	A	G	2: 155,478,150 (GRCm39)	L664P	probably damaging	Het
Uap1	T	A	1: 169,989,051 (GRCm39)	M124L	probably benign	Het
Usp48	A	G	4: 137,348,529 (GRCm39)	N536S	probably benign	Het
Usp50	T	A	2: 126,619,848 (GRCm39)	I155F	probably damaging	Het
Utp4	T	C	8: 107,649,567 (GRCm39)	I672T	probably benign	Het
Vmn1r94	A	T	7: 19,901,578 (GRCm39)	M242K	possibly damaging	Het
Vmn2r45	T	G	7: 8,486,098 (GRCm39)	N397H	probably benign	Het
Vmn2r9	T	C	5: 108,995,463 (GRCm39)	Y395C	probably damaging	Het
Vps41	C	A	13: 19,011,897 (GRCm39)	H335N	probably benign	Het

Other mutations in Clec14a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01933:Clec14a	APN	12	58,315,104 (GRCm39)	missense	probably damaging	1.00
IGL02109:Clec14a	APN	12	58,314,934 (GRCm39)	missense	probably benign	0.00
IGL02121:Clec14a	APN	12	58,315,223 (GRCm39)	missense	probably damaging	1.00
IGL02136:Clec14a	APN	12	58,315,415 (GRCm39)	missense	probably damaging	1.00
IGL02818:Clec14a	APN	12	58,314,888 (GRCm39)	missense	probably damaging	1.00
R0379:Clec14a	UTSW	12	58,315,580 (GRCm39)	missense	possibly damaging	0.90
R0419:Clec14a	UTSW	12	58,314,451 (GRCm39)	missense	probably damaging	0.97
R2972:Clec14a	UTSW	12	58,314,360 (GRCm39)	missense	probably damaging	1.00
R3796:Clec14a	UTSW	12	58,314,695 (GRCm39)	missense	probably benign	0.34
R3797:Clec14a	UTSW	12	58,314,695 (GRCm39)	missense	probably benign	0.34
R3876:Clec14a	UTSW	12	58,315,430 (GRCm39)	missense	possibly damaging	0.79
R4602:Clec14a	UTSW	12	58,314,767 (GRCm39)	missense	probably benign	0.03
R4708:Clec14a	UTSW	12	58,314,489 (GRCm39)	missense	probably benign	0.00
R4994:Clec14a	UTSW	12	58,315,070 (GRCm39)	missense	probably damaging	1.00
R5193:Clec14a	UTSW	12	58,315,400 (GRCm39)	missense	probably damaging	1.00
R5489:Clec14a	UTSW	12	58,315,035 (GRCm39)	missense	probably damaging	1.00
R5671:Clec14a	UTSW	12	58,314,612 (GRCm39)	missense	probably benign	0.05
R6318:Clec14a	UTSW	12	58,315,001 (GRCm39)	missense	probably damaging	1.00
R6388:Clec14a	UTSW	12	58,314,243 (GRCm39)	makesense	probably null
R6828:Clec14a	UTSW	12	58,315,290 (GRCm39)	missense	probably damaging	1.00
R7065:Clec14a	UTSW	12	58,315,580 (GRCm39)	missense	possibly damaging	0.90
R7418:Clec14a	UTSW	12	58,315,433 (GRCm39)	missense	probably damaging	0.99
R7635:Clec14a	UTSW	12	58,315,314 (GRCm39)	missense	probably damaging	1.00
R7666:Clec14a	UTSW	12	58,314,543 (GRCm39)	missense	probably benign	0.05
R7908:Clec14a	UTSW	12	58,314,465 (GRCm39)	missense	possibly damaging	0.63
R8844:Clec14a	UTSW	12	58,315,599 (GRCm39)	missense	possibly damaging	0.59
R9294:Clec14a	UTSW	12	58,315,536 (GRCm39)	missense	probably damaging	1.00
R9477:Clec14a	UTSW	12	58,314,620 (GRCm39)	missense	probably benign	0.01
R9711:Clec14a	UTSW	12	58,314,432 (GRCm39)	missense	probably damaging	0.97
X0024:Clec14a	UTSW	12	58,315,112 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACAGCGCATCTCCTTCCAAC -3'
(R):5'- TTTAGAGAAAGCTCCGTGCCCTCC -3'

Sequencing Primer
(F):5'- ACAGGAACGTTGTGGCTC -3'
(R):5'- AGCTGCATGTTGAGTCTCCAG -3'

Posted On

2013-04-24