Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02983:Clec4a3'

406648

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clec4a3

Ensembl Gene

ENSMUSG00000043832

Gene Name

C-type lectin domain family 4, member a3

Synonyms

3110037K17Rik, mDcir3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02983

Quality Score

Status

Chromosome

Chromosomal Location

122952515-122969875 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 122967567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088468] [ENSMUST00000088468] [ENSMUST00000088468] [ENSMUST00000117173] [ENSMUST00000117173] [ENSMUST00000117173] [ENSMUST00000204427]

AlphaFold

Q8JZX6

Predicted Effect

probably null
Transcript: ENSMUST00000088468

SMART Domains

Protein: ENSMUSP00000085816
Gene: ENSMUSG00000043832

Domain	Start	End	E-Value	Type
transmembrane domain	45	67	N/A	INTRINSIC
CLECT	107	231	1.97e-32	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000088468

SMART Domains

Protein: ENSMUSP00000085816
Gene: ENSMUSG00000043832

Domain	Start	End	E-Value	Type
transmembrane domain	45	67	N/A	INTRINSIC
CLECT	107	231	1.97e-32	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000088468

SMART Domains

Protein: ENSMUSP00000085816
Gene: ENSMUSG00000043832

Domain	Start	End	E-Value	Type
transmembrane domain	45	67	N/A	INTRINSIC
CLECT	107	231	1.97e-32	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000117173

SMART Domains

Protein: ENSMUSP00000112716
Gene: ENSMUSG00000043832

Domain	Start	End	E-Value	Type
transmembrane domain	45	67	N/A	INTRINSIC
CLECT	107	231	1.97e-32	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000117173

SMART Domains

Protein: ENSMUSP00000112716
Gene: ENSMUSG00000043832

Domain	Start	End	E-Value	Type
transmembrane domain	45	67	N/A	INTRINSIC
CLECT	107	231	1.97e-32	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000117173

SMART Domains

Protein: ENSMUSP00000112716
Gene: ENSMUSG00000043832

Domain	Start	End	E-Value	Type
transmembrane domain	45	67	N/A	INTRINSIC
CLECT	107	231	1.97e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204427

SMART Domains

Protein: ENSMUSP00000144856
Gene: ENSMUSG00000043832

Domain	Start	End	E-Value	Type
transmembrane domain	45	67	N/A	INTRINSIC
SCOP:d1e87a_	71	109	1e-8	SMART
Blast:CLECT	73	109	2e-20	BLAST
PDB:3VYK\|A	73	109	7e-13	PDB

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	A	G	19: 5,503,181	F191L	possibly damaging	Het
Abca13	A	G	11: 9,290,663	N842S	probably benign	Het
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Brip1	T	C	11: 86,139,124	I565V	probably benign	Het
Camta2	C	T	11: 70,672,022	R959Q	probably damaging	Het
Cbln2	A	G	18: 86,713,379	E104G	probably benign	Het
Cdc42ep4	T	C	11: 113,729,169	K132R	probably benign	Het
Clcnka	T	A	4: 141,390,131	I452F	probably damaging	Het
Crat	A	C	2: 30,404,526		probably null	Het
Cspp1	A	G	1: 10,127,525	K227R	probably benign	Het
Ddx1	A	T	12: 13,223,862	I588N	probably damaging	Het
Dip2b	G	T	15: 100,132,022	R98L	possibly damaging	Het
Dock5	G	A	14: 67,764,670	P1617L	probably damaging	Het
Fa2h	C	T	8: 111,346,522		probably null	Het
Fezf1	T	A	6: 23,247,872	N68I	probably damaging	Het
Gabrb2	A	T	11: 42,421,400	L17F	probably benign	Het
Gm17078	T	C	14: 51,611,190	K30R	probably benign	Het
Gramd4	G	A	15: 86,127,018	V249M	probably damaging	Het
Kcnd2	A	C	6: 21,216,555	D86A	probably damaging	Het
Lrp1	T	C	10: 127,550,199	E3486G	probably damaging	Het
Ltb	A	G	17: 35,194,670	D50G	probably benign	Het
Med18	A	T	4: 132,459,686	Y167*	probably null	Het
Nat14	G	A	7: 4,924,128	A100T	probably damaging	Het
Nxph2	T	C	2: 23,400,362	V242A	probably damaging	Het
Olfr338	T	A	2: 36,377,637	I287N	probably damaging	Het
Olfr443-ps1	T	C	6: 43,094,648		noncoding transcript	Het
Olfr54	T	C	11: 51,027,380	V126A	probably damaging	Het
Olfr818	T	A	10: 129,945,189	N291I	probably damaging	Het
Pramef20	T	C	4: 144,373,127	E356G	probably benign	Het
Rad21l	A	G	2: 151,655,120	L358S	probably damaging	Het
Rasgef1c	A	G	11: 49,957,049	T4A	possibly damaging	Het
Spata31d1a	A	G	13: 59,703,694	S207P	possibly damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Szt2	T	C	4: 118,365,779		probably benign	Het
Taf6	T	C	5: 138,178,880	T642A	probably benign	Het
Tmem30a	A	T	9: 79,771,443	M277K	possibly damaging	Het
Vmn1r86	T	C	7: 13,102,814	D45G	probably damaging	Het
Xkr5	T	C	8: 18,933,832	I565V	probably benign	Het
Zfp526	C	T	7: 25,224,415	A33V	probably benign	Het

Other mutations in Clec4a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01667:Clec4a3	APN	6	122952860	utr 5 prime	probably benign
IGL02210:Clec4a3	APN	6	122954108	missense	probably damaging	0.98
IGL02874:Clec4a3	APN	6	122967560	missense	probably benign	0.16
R0035:Clec4a3	UTSW	6	122967549	missense	probably damaging	1.00
R0035:Clec4a3	UTSW	6	122967549	missense	probably damaging	1.00
R0334:Clec4a3	UTSW	6	122969370	missense	possibly damaging	0.81
R0671:Clec4a3	UTSW	6	122954034	critical splice acceptor site	probably null
R1508:Clec4a3	UTSW	6	122967508	missense	probably benign	0.05
R1739:Clec4a3	UTSW	6	122954041	nonsense	probably null
R3547:Clec4a3	UTSW	6	122964280	missense	probably damaging	1.00
R5836:Clec4a3	UTSW	6	122952902	missense	possibly damaging	0.66
R5953:Clec4a3	UTSW	6	122969492	missense	probably benign	0.12
R7178:Clec4a3	UTSW	6	122964292	missense	probably benign	0.02
R7664:Clec4a3	UTSW	6	122966422	missense	probably benign	0.03
R7763:Clec4a3	UTSW	6	122964340	missense	probably benign	0.01
R8739:Clec4a3	UTSW	6	122967549	missense	probably damaging	1.00
R8925:Clec4a3	UTSW	6	122969369	missense	probably damaging	1.00
R8927:Clec4a3	UTSW	6	122969369	missense	probably damaging	1.00
R8955:Clec4a3	UTSW	6	122966520	missense	possibly damaging	0.94

Posted On

2016-08-02