Incidental Mutation 'IGL02713:Cd209f'
ID304651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd209f
Ensembl Gene ENSMUSG00000051906
Gene NameCD209f antigen
Synonyms1810029C22Rik, SIGNR8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.168) question?
Stock #IGL02713
Quality Score
Status
Chromosome8
Chromosomal Location4102787-4105835 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 4103732 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
Posted On2015-04-16