Mutagenetix > Incidental Mutation

Incidental Mutation 'R4602:Clec14a'

345734

Institutional Source

Beutler Lab

Gene Symbol

Clec14a

Ensembl Gene

ENSMUSG00000045930

Gene Name

C-type lectin domain family 14, member a

Synonyms

1200003C23Rik

Accession Numbers

Essential gene?

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

Stock #

R4602 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58311506-58316044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58314767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 285 (R285H)

Ref Sequence

ENSEMBL: ENSMUSP00000054451 (fasta)

Gene Model

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

AlphaFold

Q8VCP9

Predicted Effect

probably benign
Transcript: ENSMUST00000062254
AA Change: R285H

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000054451
Gene: ENSMUSG00000045930
AA Change: R285H

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,988,189 (GRCm39)	K3158E	possibly damaging	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Ankmy1	A	T	1: 92,816,372 (GRCm39)	N247K	probably benign	Het
Atp1a1	A	G	3: 101,494,259 (GRCm39)	V447A	probably benign	Het
Atp1a4	A	C	1: 172,067,332 (GRCm39)	M600R	probably damaging	Het
Baat	A	G	4: 49,502,727 (GRCm39)	Y132H	probably damaging	Het
Ceacam15	A	G	7: 16,405,906 (GRCm39)	V215A	probably damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Ctnna1	T	G	18: 35,312,880 (GRCm39)	I244R	possibly damaging	Het
Dcxr	T	A	11: 120,617,130 (GRCm39)	N105Y	possibly damaging	Het
Dnajc6	T	C	4: 101,468,461 (GRCm39)	F166L	probably damaging	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Faf1	A	G	4: 109,584,625 (GRCm39)	D67G	probably benign	Het
Fancm	G	A	12: 65,171,718 (GRCm39)	R1786H	probably benign	Het
Fnbp1	A	G	2: 30,926,552 (GRCm39)		probably null	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gbp5	A	G	3: 142,209,546 (GRCm39)	E164G	probably benign	Het
Gm4922	A	T	10: 18,660,007 (GRCm39)	Y238*	probably null	Het
Gm8257	A	G	14: 44,893,774 (GRCm39)	Y62H	probably damaging	Het
Grin2b	A	G	6: 135,755,739 (GRCm39)	F525S	probably damaging	Het
Hjv	T	G	3: 96,434,869 (GRCm39)	S203A	probably benign	Het
Hsd17b3	C	A	13: 64,210,984 (GRCm39)		probably null	Het
Ighv1-23	T	A	12: 114,728,179 (GRCm39)	Q81L	probably benign	Het
Inpp4b	T	C	8: 82,696,164 (GRCm39)	V366A	probably damaging	Het
Jak1	G	T	4: 101,036,791 (GRCm39)	A283D	possibly damaging	Het
Kmt2d	G	T	15: 98,748,140 (GRCm39)		probably benign	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mettl17	T	C	14: 52,126,246 (GRCm39)	V218A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nfat5	C	T	8: 108,093,855 (GRCm39)	Q699*	probably null	Het
Or4s2b	G	A	2: 88,508,240 (GRCm39)	V14I	probably benign	Het
Or4s2b	T	G	2: 88,508,523 (GRCm39)	V101G	probably benign	Het
Or7e174	C	A	9: 20,012,540 (GRCm39)	H162N	probably benign	Het
Osbpl7	C	A	11: 96,947,095 (GRCm39)	S265R	possibly damaging	Het
Pcdh15	A	G	10: 74,430,046 (GRCm39)	T1258A	probably damaging	Het
Pcdh20	A	T	14: 88,705,866 (GRCm39)	L478Q	probably damaging	Het
Pde11a	A	G	2: 75,988,677 (GRCm39)	V488A	probably benign	Het
Phactr1	A	T	13: 43,248,441 (GRCm39)	E463D	probably benign	Het
Phaf1	C	A	8: 105,973,520 (GRCm39)	N282K	possibly damaging	Het
Samd9l	A	T	6: 3,373,935 (GRCm39)	Y1109N	probably damaging	Het
Samd9l	GAA	GAAA	6: 3,373,937 (GRCm39)		probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Sgk2	G	A	2: 162,836,674 (GRCm39)		probably null	Het
Slco1a6	C	A	6: 142,047,378 (GRCm39)	C404F	probably benign	Het
Spaca6	C	T	17: 18,051,387 (GRCm39)	A21V	probably damaging	Het
Sphkap	G	T	1: 83,256,782 (GRCm39)	Y322*	probably null	Het
Sptlc3	G	A	2: 139,478,600 (GRCm39)	V520I	probably benign	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Syt9	A	T	7: 107,035,594 (GRCm39)	K204*	probably null	Het
Taf3	A	G	2: 9,957,468 (GRCm39)	V233A	probably damaging	Het
Tbccd1	T	C	16: 22,637,285 (GRCm39)		probably null	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tgtp2	T	C	11: 48,949,811 (GRCm39)	T254A	probably damaging	Het
Tmtc2	T	C	10: 105,249,391 (GRCm39)	Y114C	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ubac1	A	T	2: 25,888,989 (GRCm39)	I402N	probably damaging	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo

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
R0382:Clec14a	UTSW	12	58,315,403 (GRCm39)	missense	probably damaging	1.00
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
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'- TGTGTAGTTCAGGACCACGC -3'
(R):5'- CTGCATCCAGGAAGAGACAAGC -3'

Sequencing Primer
(F):5'- AGTAGGTAAAGTACTCTGTGTTCCCC -3'
(R):5'- GACAAGCGCACACTGGGAC -3'

Posted On

2015-09-25