Mutagenetix > Incidental Mutation

Incidental Mutation 'R5953:Clec4a3'

471001

Institutional Source

Beutler Lab

Gene Symbol

Clec4a3

Ensembl Gene

ENSMUSG00000043832

Gene Name

C-type lectin domain family 4, member a3

Synonyms

3110037K17Rik, mDcir3

MMRRC Submission

043245-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5953 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122952515-122969875 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 122969492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 232 (V232L)

Ref Sequence

ENSEMBL: ENSMUSP00000112716 (fasta)

Gene Model

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

AlphaFold

Q8JZX6

Predicted Effect

probably benign
Transcript: ENSMUST00000088468
AA Change: V232L

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000085816
Gene: ENSMUSG00000043832
AA Change: V232L

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: ENSMUST00000117173
AA Change: V232L

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112716
Gene: ENSMUSG00000043832
AA Change: V232L

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

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 120,361,018	S675T	probably damaging	Het
Acvr2a	T	C	2: 48,890,404	L212P	probably damaging	Het
Adamts14	T	C	10: 61,207,446	T751A	probably damaging	Het
Adgrf2	T	C	17: 42,710,338	N532D	probably damaging	Het
Asns	T	C	6: 7,682,285	E220G	probably benign	Het
Cd209d	A	T	8: 3,877,979		probably null	Het
Cenpp	T	C	13: 49,652,685	D2G	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Cntln	C	T	4: 85,049,919	H792Y	possibly damaging	Het
Cobl	T	A	11: 12,256,220	T470S	probably benign	Het
Cym	T	A	3: 107,213,467	D274V	probably damaging	Het
Elac2	G	A	11: 64,999,223	C627Y	probably benign	Het
Emc7	T	A	2: 112,459,558	I111N	probably damaging	Het
Eya4	T	A	10: 23,151,973	Y310F	probably damaging	Het
Fam217b	C	T	2: 178,420,360	S39F	probably damaging	Het
Fam234b	G	T	6: 135,225,707	R353L	possibly damaging	Het
Focad	A	G	4: 88,229,335	I404V	probably benign	Het
Il1rl1	T	A	1: 40,442,673	D180E	probably benign	Het
Il2rb	A	T	15: 78,484,982	C256*	probably null	Het
Intu	A	C	3: 40,679,550	L404F	probably damaging	Het
Jmy	G	A	13: 93,499,116	T64M	possibly damaging	Het
Mpl	C	A	4: 118,454,510	S302I	possibly damaging	Het
Mpl	T	A	4: 118,454,511	S302C	probably damaging	Het
Muc2	G	T	7: 141,701,382	D241Y	probably damaging	Het
Nlrp3	C	T	11: 59,546,791	H99Y	probably benign	Het
Olfr1474	A	T	19: 13,471,368	I133F	possibly damaging	Het
Olfr812	C	G	10: 129,842,614	V143L	probably benign	Het
Pglyrp1	A	T	7: 18,890,313	I174F	probably damaging	Het
Pi4ka	A	T	16: 17,281,951	I1936N		Het
Plekhm3	C	T	1: 64,937,895	E139K	probably damaging	Het
Pomk	C	A	8: 25,983,048	L292F	probably damaging	Het
Ptpru	A	G	4: 131,776,837	I1103T	probably damaging	Het
Pygl	T	C	12: 70,219,627	D38G	probably damaging	Het
Rapsn	T	C	2: 91,041,963	V214A	probably benign	Het
S100a9	T	A	3: 90,692,927	K54M	probably damaging	Het
Sdk2	A	G	11: 113,793,744	Y1964H	probably damaging	Het
Slc17a5	T	C	9: 78,557,498	N331S	probably damaging	Het
Snx9	T	A	17: 5,908,402	C252S	probably damaging	Het
Snx9	G	T	17: 5,908,403	C252F	probably damaging	Het
Trem1	A	T	17: 48,237,192	M82L	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
IGL02983:Clec4a3	APN	6	122967567	critical splice donor site	probably null
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
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
R9457:Clec4a3	UTSW	6	122954086	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- ACACTGAGTGCTGTGATCTC -3'
(R):5'- CAAGTAAGTTTACACATGTGCCAG -3'

Sequencing Primer
(F):5'- GAGTGCTGTGATCTCCATAAATTCC -3'
(R):5'- AGTTTACACATGTGCCAGTATTATC -3'

Posted On

2017-03-31