Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02009:Clec4a1'

182275

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clec4a1

Ensembl Gene

ENSMUSG00000049037

Gene Name

C-type lectin domain family 4, member a1

Synonyms

mDcir4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL02009

Quality Score

Status

Chromosome

Chromosomal Location

122898807-122911578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122909175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 181 (H181L)

Ref Sequence

ENSEMBL: ENSMUSP00000062441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060484]

AlphaFold

Q80UI7

Predicted Effect

probably benign
Transcript: ENSMUST00000060484
AA Change: H181L

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000062441
Gene: ENSMUSG00000049037
AA Change: H181L

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
transmembrane domain	54	76	N/A	INTRINSIC
CLECT	114	239	8.08e-29	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a3	T	C	7: 66,051,789 (GRCm39)	D388G	probably benign	Het
Ankhd1	C	A	18: 36,757,714 (GRCm39)	Q803K	probably damaging	Het
Arrdc3	A	G	13: 81,041,499 (GRCm39)	N180S	probably benign	Het
Atp11b	G	A	3: 35,868,301 (GRCm39)	E458K	probably benign	Het
Bend6	G	A	1: 33,901,827 (GRCm39)	A185V	probably benign	Het
Ccdc121	C	T	5: 31,644,835 (GRCm39)	T196I	probably benign	Het
Chd5	A	G	4: 152,450,670 (GRCm39)	D632G	probably damaging	Het
Cntnap5a	T	A	1: 116,085,224 (GRCm39)	D387E	probably benign	Het
Colq	G	A	14: 31,257,599 (GRCm39)	S256F	possibly damaging	Het
Cracd	A	G	5: 76,996,817 (GRCm39)	T92A	possibly damaging	Het
Ctdp1	A	G	18: 80,499,187 (GRCm39)	Y252H	probably damaging	Het
Cyp4f17	T	A	17: 32,743,854 (GRCm39)	L344Q	probably damaging	Het
Fam83b	A	G	9: 76,399,604 (GRCm39)	Y500H	probably damaging	Het
Gapvd1	G	A	2: 34,594,203 (GRCm39)	P949L	probably damaging	Het
Gp5	A	G	16: 30,128,482 (GRCm39)	I64T	probably benign	Het
Il31ra	A	G	13: 112,670,401 (GRCm39)	V248A	probably damaging	Het
Kdm4a	C	T	4: 118,017,366 (GRCm39)	A567T	probably benign	Het
Kpna7	T	C	5: 144,930,888 (GRCm39)		probably null	Het
Lrrc8c	G	A	5: 105,755,257 (GRCm39)	R344H	probably damaging	Het
Man1a	G	A	10: 53,801,621 (GRCm39)	L413F	probably damaging	Het
Man1a2	A	T	3: 100,591,978 (GRCm39)	D67E	probably damaging	Het
Mkln1	G	A	6: 31,426,455 (GRCm39)	S243N	probably benign	Het
Mmp19	T	A	10: 128,634,356 (GRCm39)	M299K	probably benign	Het
Msantd2	T	C	9: 37,434,686 (GRCm39)	F309L	possibly damaging	Het
Mstn	A	G	1: 53,101,309 (GRCm39)		probably benign	Het
Nat8f5	A	C	6: 85,794,408 (GRCm39)	I184R	probably benign	Het
Or5d43	C	T	2: 88,105,056 (GRCm39)	M112I	probably benign	Het
Or9m1b	G	T	2: 87,837,117 (GRCm39)	Q2K	probably benign	Het
Pigc	A	G	1: 161,798,134 (GRCm39)	K39E	possibly damaging	Het
Pms2	T	A	5: 143,862,582 (GRCm39)	L563Q	probably benign	Het
Rpap1	A	G	2: 119,610,594 (GRCm39)	S162P	possibly damaging	Het
Rpl3l	A	G	17: 24,951,407 (GRCm39)	K103E	probably damaging	Het
Slc45a1	A	T	4: 150,722,447 (GRCm39)	V479E	probably damaging	Het
Themis2	A	T	4: 132,512,753 (GRCm39)	L491Q	probably damaging	Het
Vmn2r17	A	T	5: 109,600,714 (GRCm39)	I671L	possibly damaging	Het
Vmn2r6	C	A	3: 64,445,323 (GRCm39)	V712L	possibly damaging	Het
Zzz3	A	G	3: 152,133,752 (GRCm39)	D270G	possibly damaging	Het

Other mutations in Clec4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Clec4a1	APN	6	122,899,014 (GRCm39)	missense	possibly damaging	0.53
IGL00932:Clec4a1	APN	6	122,907,654 (GRCm39)	missense	probably damaging	1.00
IGL01973:Clec4a1	APN	6	122,907,680 (GRCm39)	missense	probably damaging	1.00
IGL01976:Clec4a1	APN	6	122,905,033 (GRCm39)	splice site	probably benign
IGL02629:Clec4a1	APN	6	122,909,106 (GRCm39)	critical splice acceptor site	probably null
IGL03180:Clec4a1	APN	6	122,901,777 (GRCm39)	missense	probably benign	0.08
R1973:Clec4a1	UTSW	6	122,901,793 (GRCm39)	splice site	probably null
R4582:Clec4a1	UTSW	6	122,909,150 (GRCm39)	missense	possibly damaging	0.58
R4758:Clec4a1	UTSW	6	122,910,825 (GRCm39)	missense	probably damaging	0.97
R4937:Clec4a1	UTSW	6	122,907,654 (GRCm39)	missense	probably damaging	1.00
R5362:Clec4a1	UTSW	6	122,909,196 (GRCm39)	missense	probably damaging	1.00
R6247:Clec4a1	UTSW	6	122,905,001 (GRCm39)	missense	probably benign	0.10
R6748:Clec4a1	UTSW	6	122,910,856 (GRCm39)	missense	possibly damaging	0.72
R7387:Clec4a1	UTSW	6	122,899,016 (GRCm39)	missense	possibly damaging	0.91
R7481:Clec4a1	UTSW	6	122,904,998 (GRCm39)	missense	probably damaging	1.00
R7733:Clec4a1	UTSW	6	122,909,109 (GRCm39)	missense	possibly damaging	0.93
R8209:Clec4a1	UTSW	6	122,907,773 (GRCm39)	missense	probably damaging	0.99
R8243:Clec4a1	UTSW	6	122,901,778 (GRCm39)	missense	possibly damaging	0.75
R8297:Clec4a1	UTSW	6	122,898,960 (GRCm39)	missense	probably damaging	1.00
R8371:Clec4a1	UTSW	6	122,910,882 (GRCm39)	makesense	probably null
Z1177:Clec4a1	UTSW	6	122,910,851 (GRCm39)	missense	possibly damaging	0.46

Posted On

2014-05-07