Mutagenetix > Incidental Mutation

Incidental Mutation 'R6023:Clec3a'

479041

Institutional Source

Beutler Lab

Gene Symbol

Clec3a

Ensembl Gene

ENSMUSG00000008874

Gene Name

C-type lectin domain family 3, member a

Synonyms

1110019O10Rik, Clecsf1, LOC330844

MMRRC Submission

044195-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R6023 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115144826-115152586 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115144883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 20 (T20A)

Ref Sequence

ENSEMBL: ENSMUSP00000009018 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009018]

AlphaFold

Q9EPW4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009018
AA Change: T20A

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000009018
Gene: ENSMUSG00000008874
AA Change: T20A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CLECT	68	192	6.72e-26	SMART

Meta Mutation Damage Score

0.0604

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,757,843 (GRCm39)	N1302S	possibly damaging	Het
Aff3	A	T	1: 38,257,451 (GRCm39)	S424T	probably damaging	Het
Ap2b1	C	T	11: 83,226,224 (GRCm39)	T207M	probably damaging	Het
Appl2	T	C	10: 83,484,393 (GRCm39)	Q18R	probably null	Het
Atrn	T	C	2: 130,862,900 (GRCm39)	F1327L	probably benign	Het
Birc6	A	T	17: 74,961,372 (GRCm39)	I47F	probably benign	Het
Cdh23	A	T	10: 60,301,321 (GRCm39)	I451N	probably damaging	Het
Cpz	T	A	5: 35,669,922 (GRCm39)	I252F	probably benign	Het
Ctc1	A	G	11: 68,913,433 (GRCm39)	D143G	probably benign	Het
Dhrs1	A	T	14: 55,981,127 (GRCm39)	Y94*	probably null	Het
Dnajc25	A	G	4: 59,013,752 (GRCm39)	K157E	possibly damaging	Het
Dpp6	T	C	5: 27,928,545 (GRCm39)	I789T	probably damaging	Het
Duox1	T	G	2: 122,168,165 (GRCm39)	F1097V	probably benign	Het
Ercc8	A	G	13: 108,315,111 (GRCm39)	T242A	probably damaging	Het
Evc2	T	A	5: 37,505,960 (GRCm39)	M93K	probably benign	Het
Glra1	A	T	11: 55,424,679 (GRCm39)	V94E	probably damaging	Het
Got1l1	A	T	8: 27,689,932 (GRCm39)	Y151*	probably null	Het
Hcrtr2	T	A	9: 76,137,886 (GRCm39)	I410F	probably benign	Het
Ighv1-72	T	A	12: 115,721,532 (GRCm39)		probably benign	Het
Kel	C	A	6: 41,674,409 (GRCm39)	E340D	probably benign	Het
Kif11	A	G	19: 37,379,158 (GRCm39)	E283G	probably damaging	Het
Klk4	T	G	7: 43,533,482 (GRCm39)	F114V	probably benign	Het
Krt7	T	C	15: 101,310,278 (GRCm39)		probably benign	Het
Lrrc74a	A	G	12: 86,805,380 (GRCm39)	I401V	probably damaging	Het
Luzp2	T	C	7: 54,707,815 (GRCm39)	S68P	possibly damaging	Het
Naip1	T	C	13: 100,562,694 (GRCm39)	T824A	probably benign	Het
Nav3	T	C	10: 109,659,376 (GRCm39)	Q747R	possibly damaging	Het
Or13p4	T	A	4: 118,547,271 (GRCm39)	Y126F	probably damaging	Het
Or1j11	A	G	2: 36,311,523 (GRCm39)	T38A	probably damaging	Het
Or4c107	A	G	2: 88,789,059 (GRCm39)	D83G	possibly damaging	Het
Or51f1	T	C	7: 102,506,169 (GRCm39)	I107V	possibly damaging	Het
Or52h2	T	C	7: 103,838,880 (GRCm39)	H178R	probably damaging	Het
Or5b120	A	G	19: 13,480,067 (GRCm39)	D120G	probably damaging	Het
Or7g22	A	C	9: 19,049,021 (GRCm39)	H244P	probably damaging	Het
Pcdhb11	T	C	18: 37,555,978 (GRCm39)	I436T	possibly damaging	Het
Pfdn2	T	C	1: 171,184,319 (GRCm39)	Y65H	probably damaging	Het
Polr2h	T	C	16: 20,537,776 (GRCm39)	Y58H	probably benign	Het
Prrt4	G	A	6: 29,176,452 (GRCm39)	P291L	probably benign	Het
Psg29	G	T	7: 16,944,437 (GRCm39)	V316L	possibly damaging	Het
Rnf112	T	A	11: 61,340,555 (GRCm39)	E525V	probably damaging	Het
Sgms1	T	C	19: 32,101,773 (GRCm39)	K411R	probably benign	Het
Sh3tc1	T	A	5: 35,864,295 (GRCm39)	K631*	probably null	Het
Syne1	T	C	10: 5,393,223 (GRCm39)	M48V	probably benign	Het
Thrb	C	T	14: 18,011,209 (GRCm38)	T226I	probably damaging	Het
Trim67	A	T	8: 125,541,843 (GRCm39)	D347V	probably damaging	Het
Try4	T	C	6: 41,280,355 (GRCm39)	S60P	probably damaging	Het
Ttn	G	T	2: 76,565,744 (GRCm39)	L19876I	probably damaging	Het
Vars1	C	T	17: 35,220,585 (GRCm39)	R56C	probably damaging	Het
Vmn1r9	A	G	6: 57,048,239 (GRCm39)	I105V	probably benign	Het
Vps8	C	A	16: 21,279,988 (GRCm39)	T313K	probably benign	Het

Other mutations in Clec3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01564:Clec3a	APN	8	115,152,282 (GRCm39)	missense	probably damaging	1.00
IGL02391:Clec3a	APN	8	115,152,240 (GRCm39)	missense	probably benign	0.30
R0569:Clec3a	UTSW	8	115,152,476 (GRCm39)	missense	probably damaging	1.00
R4988:Clec3a	UTSW	8	115,144,827 (GRCm39)	start codon destroyed	probably null	0.98
R5344:Clec3a	UTSW	8	115,149,712 (GRCm39)	missense	probably damaging	1.00
R5443:Clec3a	UTSW	8	115,144,893 (GRCm39)	missense	probably benign	0.10
R6523:Clec3a	UTSW	8	115,152,345 (GRCm39)	missense	probably damaging	1.00
R8263:Clec3a	UTSW	8	115,152,369 (GRCm39)	missense	probably benign	0.00
R8320:Clec3a	UTSW	8	115,152,369 (GRCm39)	missense	probably benign	0.00
R9068:Clec3a	UTSW	8	115,152,375 (GRCm39)	missense	probably damaging	1.00
R9623:Clec3a	UTSW	8	115,144,887 (GRCm39)	missense	probably benign
Z1187:Clec3a	UTSW	8	115,144,859 (GRCm39)	missense	possibly damaging	0.91
Z1188:Clec3a	UTSW	8	115,144,859 (GRCm39)	missense	possibly damaging	0.91
Z1190:Clec3a	UTSW	8	115,144,859 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TGCAGCTCCTTTATATAAAGCCAG -3'
(R):5'- ACTCTCCTGAGGCTCCAAAG -3'

Sequencing Primer
(F):5'- TTTATATAAAGCCAGCCCCCAG -3'
(R):5'- AAAGGTCACTGGATCCCTTG -3'

Posted On

2017-06-26