Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01564:Clec3a'

90926

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clec3a

Ensembl Gene

ENSMUSG00000008874

Gene Name

C-type lectin domain family 3, member a

Synonyms

1110019O10Rik, Clecsf1, LOC330844

Accession Numbers

Essential gene?

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

Stock #

IGL01564

Quality Score

Status

Chromosome

Chromosomal Location

115144826-115152586 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115152282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 96 (I96N)

Ref Sequence

ENSEMBL: ENSMUSP00000009018 (fasta)

Gene Model

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

AlphaFold

Q9EPW4

Predicted Effect

probably damaging
Transcript: ENSMUST00000009018
AA Change: I96N

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

SMART Domains

Protein: ENSMUSP00000009018
Gene: ENSMUSG00000008874
AA Change: I96N

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	T	A	10: 80,442,693 (GRCm39)	M177K	probably damaging	Het
Ankrd28	G	T	14: 31,477,724 (GRCm39)	T48K	probably damaging	Het
Capn3	T	C	2: 120,311,189 (GRCm39)	I112T	probably damaging	Het
Clic4	C	T	4: 134,944,504 (GRCm39)	A224T	probably damaging	Het
Eif2b3	T	C	4: 116,885,739 (GRCm39)	Y94H	probably benign	Het
Ep300	A	T	15: 81,516,665 (GRCm39)		probably benign	Het
Errfi1	C	A	4: 150,951,487 (GRCm39)	T305N	probably damaging	Het
Fam131c	T	A	4: 141,106,984 (GRCm39)		probably null	Het
Fbxo11	G	A	17: 88,310,324 (GRCm39)	T494I	probably benign	Het
Homer2	T	C	7: 81,268,320 (GRCm39)		probably null	Het
Hpf1	C	A	8: 61,343,513 (GRCm39)		probably benign	Het
Hspa1b	T	C	17: 35,176,525 (GRCm39)	N487D	probably benign	Het
Ikbke	C	A	1: 131,185,658 (GRCm39)	A617S	probably benign	Het
Jade1	G	T	3: 41,551,084 (GRCm39)	R174S	possibly damaging	Het
Lcmt1	T	C	7: 123,003,663 (GRCm39)	F139S	probably benign	Het
Lipo2	T	C	19: 33,698,424 (GRCm39)	T318A	probably benign	Het
Lrp1b	C	T	2: 40,567,498 (GRCm39)		probably benign	Het
Lsm14a	T	C	7: 34,088,780 (GRCm39)		probably benign	Het
Mpp2	T	C	11: 101,952,345 (GRCm39)	D393G	probably benign	Het
Nfyb	T	C	10: 82,588,260 (GRCm39)	Y137C	probably damaging	Het
Or10g1	T	C	14: 52,648,299 (GRCm39)	D10G	probably benign	Het
Or5d35	A	T	2: 87,855,648 (GRCm39)	H194L	probably benign	Het
Or5p55	T	C	7: 107,567,198 (GRCm39)	I198T	probably benign	Het
Scn3a	A	C	2: 65,291,790 (GRCm39)	I1652S	probably damaging	Het
Slc33a1	C	T	3: 63,850,768 (GRCm39)	V519I	probably benign	Het
Strada	G	T	11: 106,064,118 (GRCm39)	N66K	probably damaging	Het
Thoc2l	A	T	5: 104,668,529 (GRCm39)	Y1017F	probably benign	Het
Tlr1	T	A	5: 65,083,189 (GRCm39)	I463F	probably damaging	Het
Tnfrsf19	G	T	14: 61,212,058 (GRCm39)	F197L	possibly damaging	Het
Tph1	T	A	7: 46,300,305 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,646,922 (GRCm39)	L3287H	probably damaging	Het
Vmn2r18	A	T	5: 151,508,633 (GRCm39)	S164T	possibly damaging	Het
Zan	C	T	5: 137,444,995 (GRCm39)	V1755I	unknown	Het
Zmym4	T	C	4: 126,805,073 (GRCm39)	I396V	possibly damaging	Het

Other mutations in Clec3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6023:Clec3a	UTSW	8	115,144,883 (GRCm39)	missense	possibly damaging	0.52
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

Posted On

2013-12-09