Mutagenetix > Incidental Mutation

Incidental Mutation 'R7065:Clec14a'

548534

Institutional Source

Beutler Lab

Gene Symbol

Clec14a

Ensembl Gene

ENSMUSG00000045930

Gene Name

C-type lectin domain family 14, member a

Synonyms

1200003C23Rik

MMRRC Submission

045161-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7065 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58311506-58316044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58315580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 14 (F14S)

Ref Sequence

ENSEMBL: ENSMUSP00000054451 (fasta)

Gene Model

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

AlphaFold

Q8VCP9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062254
AA Change: F14S

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054451
Gene: ENSMUSG00000045930
AA Change: F14S

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

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	T	4: 53,074,233 (GRCm39)	S1150Y	probably damaging	Het
Abca13	T	A	11: 9,242,595 (GRCm39)	V1486E	probably benign	Het
Abca17	T	A	17: 24,546,725 (GRCm39)	Y292F	probably damaging	Het
Adam3	A	G	8: 25,201,691 (GRCm39)		probably null	Het
Ankmy2	G	A	12: 36,237,707 (GRCm39)	E269K	probably damaging	Het
Cdan1	A	G	2: 120,549,402 (GRCm39)	S1201P	probably benign	Het
Cep57	T	C	9: 13,729,677 (GRCm39)	Y122C	probably damaging	Het
Cfh	T	A	1: 140,014,140 (GRCm39)	Y1210F	probably damaging	Het
Cflar	T	G	1: 58,770,368 (GRCm39)	L154V	probably damaging	Het
Chmp4b	A	G	2: 154,533,162 (GRCm39)	D134G	probably damaging	Het
Ctnna1	A	T	18: 35,285,669 (GRCm39)	H5L	probably benign	Het
Cyp2e1	T	A	7: 140,343,906 (GRCm39)	L48Q	probably damaging	Het
Dnah6	T	G	6: 73,064,545 (GRCm39)	Q2627P	possibly damaging	Het
Ehmt1	T	C	2: 24,730,709 (GRCm39)	D569G	probably damaging	Het
Frmd4a	G	A	2: 4,570,923 (GRCm39)			Het
Fryl	T	C	5: 73,248,099 (GRCm39)	D1006G	probably damaging	Het
Gclm	A	G	3: 122,056,320 (GRCm39)	N137D	probably benign	Het
Gk5	A	G	9: 96,061,109 (GRCm39)	Y531C	probably damaging	Het
Gpm6a	C	A	8: 55,490,493 (GRCm39)	N56K	probably benign	Het
Grik4	A	C	9: 42,455,127 (GRCm39)	V656G	probably damaging	Het
Grip2	C	A	6: 91,760,550 (GRCm39)		probably null	Het
Gucy2c	T	C	6: 136,697,764 (GRCm39)	K636E	probably damaging	Het
Ifi44l	A	G	3: 151,465,429 (GRCm39)	I107T		Het
Kif1b	T	C	4: 149,286,982 (GRCm39)	T1237A	possibly damaging	Het
Klk1b11	A	G	7: 43,648,386 (GRCm39)	D131G	probably benign	Het
Lipe	A	G	7: 25,084,603 (GRCm39)		probably null	Het
Lrp4	A	G	2: 91,341,925 (GRCm39)	D1846G	probably damaging	Het
Madd	A	T	2: 90,985,402 (GRCm39)	M1273K	probably benign	Het
Matn3	T	A	12: 9,002,472 (GRCm39)	M228K	probably damaging	Het
Mterf4	T	A	1: 93,232,617 (GRCm39)	H78L	probably benign	Het
Ncoa4	T	A	14: 31,894,857 (GRCm39)	L128*	probably null	Het
Nedd4l	A	G	18: 65,329,040 (GRCm39)	N627S	probably benign	Het
Niban1	A	G	1: 151,575,858 (GRCm39)		probably null	Het
Nphp3	A	G	9: 103,919,189 (GRCm39)	Y1279C	probably damaging	Het
Nrp1	C	A	8: 129,187,193 (GRCm39)	T413N	probably benign	Het
Opn4	C	A	14: 34,317,834 (GRCm39)	A267S	probably benign	Het
Or4c11c	A	T	2: 88,661,730 (GRCm39)	I90F	probably damaging	Het
Or5ak24	A	G	2: 85,260,523 (GRCm39)	Y217H	probably damaging	Het
Or5al6	A	C	2: 85,976,345 (GRCm39)	H244Q	probably damaging	Het
Or5p78	G	A	7: 108,212,266 (GRCm39)	V251I	probably damaging	Het
Pax3	T	C	1: 78,170,648 (GRCm39)		probably null	Het
Pcdha12	A	G	18: 37,154,679 (GRCm39)	E466G	probably damaging	Het
Pdzk1	A	G	3: 96,775,748 (GRCm39)	E372G	probably benign	Het
Pigs	T	A	11: 78,227,565 (GRCm39)	V243D	possibly damaging	Het
Pla2g5	C	A	4: 138,527,915 (GRCm39)	C117F	probably damaging	Het
Ppt2	A	G	17: 34,841,829 (GRCm39)	S236P	probably damaging	Het
Raver1	T	C	9: 21,001,590 (GRCm39)	D81G	probably benign	Het
Rpgrip1	T	C	14: 52,378,650 (GRCm39)	L525P	possibly damaging	Het
Ryr1	T	C	7: 28,803,068 (GRCm39)	E662G	probably damaging	Het
Scaf8	G	A	17: 3,209,486 (GRCm39)	V66M	probably damaging	Het
Scn3a	A	C	2: 65,295,199 (GRCm39)	L1508R	probably benign	Het
Semp2l2b	T	C	10: 21,943,197 (GRCm39)	D261G	probably benign	Het
Slfn8	T	C	11: 82,907,794 (GRCm39)	R250G	probably benign	Het
Speer4d	A	C	5: 15,825,421 (GRCm39)	T49P	probably damaging	Het
Spice1	T	A	16: 44,175,898 (GRCm39)	D32E	probably damaging	Het
Stt3b	A	G	9: 115,095,224 (GRCm39)	L269P	probably damaging	Het
Ttn	A	G	2: 76,628,456 (GRCm39)	I14568T	possibly damaging	Het
U2surp	T	C	9: 95,367,712 (GRCm39)	T413A	probably benign	Het
Ubr3	A	G	2: 69,784,049 (GRCm39)	E755G	probably damaging	Het
Unc5a	A	T	13: 55,138,896 (GRCm39)	S92C	probably damaging	Het
Zfat	T	C	15: 68,052,969 (GRCm39)	Y275C	probably damaging	Het
Zfp874a	A	T	13: 67,590,401 (GRCm39)	S428T	probably damaging	Het
Zfy1	A	G	Y: 725,428 (GRCm39)	V779A	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
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
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
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'- TTGAAACTCCGAGCCTGAGTG -3'
(R):5'- ATTTCCTGTCACGGCCTAGG -3'

Sequencing Primer
(F):5'- AGTGCACGGTGCTGAGAGTC -3'
(R):5'- CTGTCACGGCCTAGGGAAAG -3'

Posted On

2019-05-13