Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02713:Cd209f'

304651

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd209f

Ensembl Gene

ENSMUSG00000051906

Gene Name

CD209f antigen

Synonyms

1810029C22Rik, SIGNR8

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL02713

Quality Score

Status

Chromosome

Chromosomal Location

4102787-4105835 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4103732 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 191 (R191S)

Ref Sequence

ENSEMBL: ENSMUSP00000119810 (fasta)

Gene Model

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

AlphaFold

D3Z1H5

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128568

Predicted Effect

probably benign
Transcript: ENSMUST00000138439
AA Change: R191S

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119810
Gene: ENSMUSG00000051906
AA Change: R191S

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 benign
Transcript: ENSMUST00000145007
AA Change: R172S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116355
Gene: ENSMUSG00000051906
AA Change: R172S

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,624,137	K893N	possibly damaging	Het
Acan	A	G	7: 79,100,244	T1588A	possibly damaging	Het
Apeh	A	T	9: 108,085,672	L700Q	probably damaging	Het
Arid1b	T	C	17: 5,343,011	I2272T	probably damaging	Het
Best3	T	G	10: 117,024,529	F565V	probably benign	Het
Birc6	A	G	17: 74,579,324	N521S	probably benign	Het
Clec4e	A	T	6: 123,286,304	Y63*	probably null	Het
Cyp26c1	C	T	19: 37,693,219	T490M	probably damaging	Het
Cyp2b9	T	A	7: 26,173,520	H29Q	probably benign	Het
Cyp2d10	A	C	15: 82,406,082		probably benign	Het
Dgat1	C	A	15: 76,503,534	R291L	probably damaging	Het
Dyrk1a	C	A	16: 94,685,345		probably benign	Het
Esp4	T	C	17: 40,602,406	F55L	probably benign	Het
Fam227a	G	A	15: 79,636,796		probably benign	Het
Ggt1	T	C	10: 75,574,344	Y37H	probably damaging	Het
Grsf1	A	T	5: 88,672,730	I64K	probably damaging	Het
Itga6	C	T	2: 71,816,713	T89I	possibly damaging	Het
Jph2	T	C	2: 163,375,917	T280A	probably damaging	Het
Lipm	A	G	19: 34,101,170	M1V	probably null	Het
Nbeal1	C	T	1: 60,235,237	A513V	possibly damaging	Het
Olfr1491	A	T	19: 13,705,189	I121F	possibly damaging	Het
Olfr514	A	T	7: 108,825,594	M135K	probably damaging	Het
Olfr518	G	A	7: 108,880,853	T251I	probably damaging	Het
Olfr61	A	T	7: 140,637,916	I72F	probably damaging	Het
Olfr888	C	T	9: 38,109,327	P214S	probably damaging	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Orc6	A	G	8: 85,307,586	E146G	probably benign	Het
Patl2	A	G	2: 122,125,847	S179P	probably benign	Het
Pdzd8	C	A	19: 59,345,458	G44C	probably damaging	Het
Phox2b	A	G	5: 67,096,595		probably benign	Het
Ppp4r3b	T	G	11: 29,188,445	H264Q	probably damaging	Het
Ptprk	T	C	10: 28,592,811	I1409T	possibly damaging	Het
Pum1	T	A	4: 130,766,012	I842N	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sgca	T	A	11: 94,971,305	N174Y	probably damaging	Het
Slc7a14	A	T	3: 31,257,763	L36Q	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stard13	G	A	5: 151,042,186	Q935*	probably null	Het
Suds3	C	T	5: 117,094,905		probably null	Het
Sv2b	A	T	7: 75,124,163	L520Q	possibly damaging	Het
Tmem26	T	C	10: 68,751,295	F191S	probably damaging	Het

Other mutations in Cd209f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01393:Cd209f	APN	8	4103154	missense	probably damaging	1.00
IGL02339:Cd209f	APN	8	4104483	critical splice donor site	probably null
R0481:Cd209f	UTSW	8	4105558	splice site	probably null
R1666:Cd209f	UTSW	8	4104862	nonsense	probably null
R1834:Cd209f	UTSW	8	4104491	missense	probably damaging	1.00
R1836:Cd209f	UTSW	8	4104491	missense	probably damaging	1.00
R1880:Cd209f	UTSW	8	4105464	critical splice donor site	probably null
R2096:Cd209f	UTSW	8	4105537	missense	probably benign	0.03
R4672:Cd209f	UTSW	8	4103685	missense	probably damaging	1.00
R4931:Cd209f	UTSW	8	4103688	missense	probably damaging	1.00
R5263:Cd209f	UTSW	8	4104506	missense	probably benign	0.42
R6894:Cd209f	UTSW	8	4105477	missense	probably benign	0.01
R7011:Cd209f	UTSW	8	4104859	missense	probably benign	0.32
R7956:Cd209f	UTSW	8	4104859	missense	probably benign	0.32
R9112:Cd209f	UTSW	8	4105802	start gained	probably benign

Posted On

2015-04-16