Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01340:Cd209c'

74809

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd209c

Ensembl Gene

ENSMUSG00000040165

Gene Name

CD209c antigen

Synonyms

mSIGNR2, SIGNR2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL01340

Quality Score

Status

Chromosome

Chromosomal Location

3990222-4004746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3995892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 6 (R6H)

Ref Sequence

ENSEMBL: ENSMUSP00000039861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044060] [ENSMUST00000208622]

AlphaFold

Q91ZW9

Predicted Effect

probably benign
Transcript: ENSMUST00000044060
AA Change: R6H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000039861
Gene: ENSMUSG00000040165
AA Change: R6H

Domain	Start	End	E-Value	Type
CLECT	48	169	7.66e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127592

SMART Domains

Protein: ENSMUSP00000120433
Gene: ENSMUSG00000040165

Domain	Start	End	E-Value	Type
transmembrane domain	51	73	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153915

Predicted Effect

probably benign
Transcript: ENSMUST00000208622
AA Change: R6H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208902

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,021,453 (GRCm39)	I1086L	probably benign	Het
Adam17	A	T	12: 21,380,058 (GRCm39)	C630*	probably null	Het
Adgrg5	T	C	8: 95,664,257 (GRCm39)	L289P	probably damaging	Het
Aplp1	G	A	7: 30,143,843 (GRCm39)	T64I	probably damaging	Het
Bdh1	T	A	16: 31,275,661 (GRCm39)	W261R	probably damaging	Het
Cadm2	A	T	16: 66,581,672 (GRCm39)	I202N	possibly damaging	Het
Cfap221	T	A	1: 119,881,350 (GRCm39)	I371F	possibly damaging	Het
Cfap44	A	G	16: 44,224,493 (GRCm39)	Y67C	probably damaging	Het
Cilp	T	C	9: 65,183,256 (GRCm39)	S387P	probably damaging	Het
Cnot1	T	C	8: 96,487,165 (GRCm39)	D598G	probably damaging	Het
Col5a1	T	C	2: 27,850,463 (GRCm39)	L520P	unknown	Het
Cpvl	A	T	6: 53,873,436 (GRCm39)	Y433*	probably null	Het
Cxcl1	G	T	5: 91,039,434 (GRCm39)	C59F	probably damaging	Het
Cyth3	T	A	5: 143,670,190 (GRCm39)	L33*	probably null	Het
Dnah2	T	C	11: 69,384,010 (GRCm39)	K1069E	probably damaging	Het
Drosha	T	A	15: 12,834,109 (GRCm39)		probably benign	Het
Fam83h	T	A	15: 75,875,885 (GRCm39)	D484V	probably damaging	Het
Igsf3	C	A	3: 101,346,995 (GRCm39)	Y663*	probably null	Het
Kmt5c	C	T	7: 4,745,140 (GRCm39)	R44*	probably null	Het
Kxd1	T	C	8: 70,968,093 (GRCm39)		probably null	Het
Lars1	A	G	18: 42,335,642 (GRCm39)	V1158A	probably benign	Het
Lmf2	A	G	15: 89,237,075 (GRCm39)	F413S	probably damaging	Het
Mc4r	C	T	18: 66,992,229 (GRCm39)	A295T	probably benign	Het
Mrc1	T	C	2: 14,314,895 (GRCm39)		probably null	Het
Mtmr7	T	C	8: 41,050,465 (GRCm39)	Y110C	probably damaging	Het
Myd88	A	C	9: 119,166,418 (GRCm39)		probably benign	Het
Ndc1	T	C	4: 107,231,344 (GRCm39)	V95A	probably damaging	Het
Ntrk1	T	A	3: 87,696,021 (GRCm39)	E163V	possibly damaging	Het
Or4p8	T	C	2: 88,727,321 (GRCm39)	T207A	probably damaging	Het
Pappa	A	T	4: 65,242,109 (GRCm39)	D1491V	possibly damaging	Het
Phc3	T	A	3: 30,984,033 (GRCm39)	I673F	possibly damaging	Het
Pkhd1	A	T	1: 20,593,201 (GRCm39)	N1637K	probably benign	Het
Relb	T	C	7: 19,350,298 (GRCm39)	I218V	probably benign	Het
Rgma	T	C	7: 73,067,078 (GRCm39)	F111S	probably damaging	Het
Slco1a6	A	T	6: 142,055,109 (GRCm39)	N278K	possibly damaging	Het
Slfn9	A	T	11: 82,872,577 (GRCm39)	F720I	probably benign	Het
Snd1	T	A	6: 28,883,368 (GRCm39)	V741E	probably benign	Het
Snx6	C	T	12: 54,801,094 (GRCm39)	R185Q	probably damaging	Het
Spata31g1	A	C	4: 42,971,984 (GRCm39)	E439A	possibly damaging	Het
Telo2	G	A	17: 25,319,103 (GRCm39)		probably benign	Het
Wdr91	A	G	6: 34,881,514 (GRCm39)	S278P	probably benign	Het
Xab2	A	T	8: 3,664,381 (GRCm39)	D277E	probably damaging	Het
Zbbx	T	C	3: 75,012,957 (GRCm39)	E158G	possibly damaging	Het

Other mutations in Cd209c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Cd209c	APN	8	3,990,339 (GRCm39)	missense	probably damaging	1.00
IGL02682:Cd209c	APN	8	3,990,324 (GRCm39)	missense	probably damaging	0.99
R1311:Cd209c	UTSW	8	3,995,908 (GRCm39)	start codon destroyed	probably benign
R1859:Cd209c	UTSW	8	3,994,953 (GRCm39)	missense	probably benign
R4374:Cd209c	UTSW	8	4,004,635 (GRCm39)	exon	noncoding transcript
R4375:Cd209c	UTSW	8	4,004,635 (GRCm39)	exon	noncoding transcript
R4377:Cd209c	UTSW	8	4,004,635 (GRCm39)	exon	noncoding transcript
R4769:Cd209c	UTSW	8	3,994,953 (GRCm39)	missense	probably benign
R4786:Cd209c	UTSW	8	3,995,698 (GRCm39)	missense	possibly damaging	0.77
R4841:Cd209c	UTSW	8	3,995,905 (GRCm39)	missense	probably benign	0.00
R4842:Cd209c	UTSW	8	3,995,905 (GRCm39)	missense	probably benign	0.00
R4869:Cd209c	UTSW	8	3,994,077 (GRCm39)	missense	probably benign	0.00
R5333:Cd209c	UTSW	8	3,994,976 (GRCm39)	missense	probably damaging	1.00
R5835:Cd209c	UTSW	8	3,995,699 (GRCm39)	missense	probably benign	0.01
R6369:Cd209c	UTSW	8	3,994,984 (GRCm39)	missense	probably damaging	1.00
R6497:Cd209c	UTSW	8	3,994,122 (GRCm39)	missense	possibly damaging	0.72
R6591:Cd209c	UTSW	8	3,995,680 (GRCm39)	missense	probably benign	0.14
R6691:Cd209c	UTSW	8	3,995,680 (GRCm39)	missense	probably benign	0.14
R7181:Cd209c	UTSW	8	3,995,712 (GRCm39)	missense	probably benign	0.01
R8067:Cd209c	UTSW	8	3,995,700 (GRCm39)	missense	probably benign	0.12
R8701:Cd209c	UTSW	8	3,995,892 (GRCm39)	missense	probably benign	0.00
R9722:Cd209c	UTSW	8	3,995,905 (GRCm39)	missense	probably benign	0.00

Posted On

2013-10-07