Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02339:Cd209f'

289014

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd209f

Ensembl Gene

ENSMUSG00000051906

Gene Name

CD209f antigen

Synonyms

SIGNR8, 1810029C22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

IGL02339

Quality Score

Status

Chromosome

Chromosomal Location

4152787-4155835 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 4154483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000138439] [ENSMUST00000145007]

AlphaFold

D3Z1H5

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128568

Predicted Effect

probably null
Transcript: ENSMUST00000138439

SMART Domains

Protein: ENSMUSP00000119810
Gene: ENSMUSG00000051906

Domain	Start	End	E-Value	Type
transmembrane domain	45	67	N/A	INTRINSIC
low complexity region	76	88	N/A	INTRINSIC
low complexity region	105	112	N/A	INTRINSIC
CLECT	146	265	1.6e-32	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000145007

SMART Domains

Protein: ENSMUSP00000116355
Gene: ENSMUSG00000051906

Domain	Start	End	E-Value	Type
transmembrane domain	45	67	N/A	INTRINSIC
low complexity region	76	88	N/A	INTRINSIC
low complexity region	105	112	N/A	INTRINSIC
CLECT	127	246	1.6e-32	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207294

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	A	6: 23,093,965 (GRCm39)	V119F	probably damaging	Het
Abcg5	T	C	17: 84,981,032 (GRCm39)	I186V	possibly damaging	Het
B4gat1	G	A	19: 5,089,446 (GRCm39)	E148K	probably benign	Het
Ccr6	A	T	17: 8,475,085 (GRCm39)	T97S	probably benign	Het
Chst1	T	A	2: 92,443,922 (GRCm39)	D131E	possibly damaging	Het
Dennd4a	C	T	9: 64,749,843 (GRCm39)	R145*	probably null	Het
Dnaaf9	A	G	2: 130,581,385 (GRCm39)	S546P	probably damaging	Het
Dnah6	A	G	6: 73,078,881 (GRCm39)	Y2361H	probably benign	Het
Dpp6	C	T	5: 27,857,228 (GRCm39)	T333I	probably damaging	Het
Glt8d1	C	A	14: 30,730,767 (GRCm39)	T91K	probably damaging	Het
Gm4952	G	A	19: 12,604,275 (GRCm39)	R229Q	probably damaging	Het
Gm5117	T	C	8: 32,228,254 (GRCm39)		noncoding transcript	Het
Gp5	T	C	16: 30,128,008 (GRCm39)	E222G	probably damaging	Het
Herc2	T	A	7: 55,771,470 (GRCm39)	D1077E	probably benign	Het
Hfe	T	C	13: 23,888,373 (GRCm39)	E171G	probably damaging	Het
Hsp90b1	A	G	10: 86,537,678 (GRCm39)	V209A	probably damaging	Het
Ktn1	A	T	14: 47,920,835 (GRCm39)		probably benign	Het
Med13	T	C	11: 86,179,765 (GRCm39)	I1394M	probably benign	Het
Meioc	T	G	11: 102,559,274 (GRCm39)	S65R	probably benign	Het
Myof	T	C	19: 37,960,661 (GRCm39)	Y460C	possibly damaging	Het
Or4f53	A	T	2: 111,087,588 (GRCm39)	T43S	probably benign	Het
Pms1	A	G	1: 53,314,324 (GRCm39)	Y74H	possibly damaging	Het
Ptprn2	A	C	12: 116,685,724 (GRCm39)	Q61P	probably damaging	Het
Rab29	A	G	1: 131,799,880 (GRCm39)	T152A	probably benign	Het
Rest	A	G	5: 77,423,135 (GRCm39)	H313R	probably damaging	Het
Slc9a5	T	C	8: 106,085,091 (GRCm39)	Y531H	probably damaging	Het
St3gal3	T	C	4: 117,815,759 (GRCm39)	T148A	probably damaging	Het
Stxbp5	C	T	10: 9,692,041 (GRCm39)	V368I	possibly damaging	Het
Taf1c	T	C	8: 120,331,019 (GRCm39)	D33G	probably damaging	Het
Trim38	G	A	13: 23,972,213 (GRCm39)	R178Q	probably damaging	Het
Uvssa	A	T	5: 33,572,193 (GRCm39)	K704N	probably damaging	Het
Vmn1r69	G	A	7: 10,314,645 (GRCm39)	Q29*	probably null	Het
Ypel2	T	C	11: 86,831,429 (GRCm39)	D119G	possibly damaging	Het

Other mutations in Cd209f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01393:Cd209f	APN	8	4,153,154 (GRCm39)	missense	probably damaging	1.00
IGL02713:Cd209f	APN	8	4,153,732 (GRCm39)	missense	probably benign	0.13
R0481:Cd209f	UTSW	8	4,155,558 (GRCm39)	splice site	probably null
R1666:Cd209f	UTSW	8	4,154,862 (GRCm39)	nonsense	probably null
R1834:Cd209f	UTSW	8	4,154,491 (GRCm39)	missense	probably damaging	1.00
R1836:Cd209f	UTSW	8	4,154,491 (GRCm39)	missense	probably damaging	1.00
R1880:Cd209f	UTSW	8	4,155,464 (GRCm39)	critical splice donor site	probably null
R2096:Cd209f	UTSW	8	4,155,537 (GRCm39)	missense	probably benign	0.03
R4672:Cd209f	UTSW	8	4,153,685 (GRCm39)	missense	probably damaging	1.00
R4931:Cd209f	UTSW	8	4,153,688 (GRCm39)	missense	probably damaging	1.00
R5263:Cd209f	UTSW	8	4,154,506 (GRCm39)	missense	probably benign	0.42
R6894:Cd209f	UTSW	8	4,155,477 (GRCm39)	missense	probably benign	0.01
R7011:Cd209f	UTSW	8	4,154,859 (GRCm39)	missense	probably benign	0.32
R7956:Cd209f	UTSW	8	4,154,859 (GRCm39)	missense	probably benign	0.32
R9112:Cd209f	UTSW	8	4,155,802 (GRCm39)	start gained	probably benign

Posted On

2015-04-16