Incidental Mutation 'R7011:Cd209f'
ID545017
Institutional Source Beutler Lab
Gene Symbol Cd209f
Ensembl Gene ENSMUSG00000051906
Gene NameCD209f antigen
Synonyms1810029C22Rik, SIGNR8
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #R7011 (G1)
Quality Score225.009
Status Not validated
Chromosome8
Chromosomal Location4102787-4105835 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 4104859 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 80 (T80S)
Ref Sequence ENSEMBL: ENSMUSP00000119810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000138439] [ENSMUST00000145007]
Predicted Effect probably benign
Transcript: ENSMUST00000138439
AA Change: T80S

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119810
Gene: ENSMUSG00000051906
AA Change: T80S

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: T80S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000116355
Gene: ENSMUSG00000051906
AA Change: T80S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (66/69)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 C T 11: 46,143,018 P886S probably benign Het
Anapc1 C T 2: 128,648,681 probably null Het
Ankrd34c C A 9: 89,728,948 G447* probably null Het
Apbb1ip A T 2: 22,835,931 E238D probably damaging Het
Arfgap1 T C 2: 180,972,142 L110P probably damaging Het
Arhgap21 G A 2: 20,848,878 T1901I possibly damaging Het
Brpf1 C A 6: 113,318,466 Q679K probably benign Het
Btnl2 A G 17: 34,363,513 E351G probably damaging Het
Cdc16 A G 8: 13,769,451 E349G probably damaging Het
Cfap53 A T 18: 74,329,493 D436V probably benign Het
Crhr2 A T 6: 55,099,210 probably null Het
Cux1 T C 5: 136,360,033 K226E probably damaging Het
Ddr2 A T 1: 169,982,103 D768E probably damaging Het
Dhx8 T C 11: 101,741,520 L435P probably damaging Het
Dnah11 AGGCC AGGCCGGCC 12: 117,922,018 probably null Het
Eif4ebp1 G A 8: 27,273,344 R55Q probably damaging Het
Fbxo18 T A 2: 11,762,963 D358V probably damaging Het
Fra10ac1 T A 19: 38,188,794 E304D probably benign Het
Gabrb2 T C 11: 42,626,661 S399P possibly damaging Het
Gpatch2l G A 12: 86,244,184 R47H probably damaging Het
Gprin2 G T 14: 34,195,436 H126N probably null Het
Gucy1a1 A G 3: 82,109,115 S189P probably damaging Het
Htr1d T C 4: 136,443,006 M182T probably benign Het
Lipc A G 9: 70,818,954 F73L probably benign Het
Liph A G 16: 21,984,097 I74T probably damaging Het
Lrif1 T G 3: 106,732,285 Y229D probably damaging Het
Magel2 C T 7: 62,378,533 T395I possibly damaging Het
Magi3 T C 3: 104,105,754 N139S probably damaging Het
Man2c1 T A 9: 57,137,833 V336E probably damaging Het
Mapk12 A T 15: 89,135,600 Y135N probably damaging Het
Mapkapk3 C T 9: 107,289,396 probably benign Het
Mast1 A T 8: 84,911,945 Y653* probably null Het
Muc16 T A 9: 18,637,451 I5849F probably benign Het
Muc16 T A 9: 18,637,543 H5818L probably benign Het
Ndufa10 A G 1: 92,470,859 S68P probably damaging Het
Nedd1 C A 10: 92,690,773 L503F probably benign Het
Nr1i3 A G 1: 171,214,358 M4V probably benign Het
Olfr1121 G A 2: 87,372,260 A243T possibly damaging Het
Olfr1307 A T 2: 111,944,686 F257I probably benign Het
Olfr1501 T C 19: 13,839,039 I45V probably benign Het
Olfr332 T A 11: 58,490,144 I204F possibly damaging Het
Papd7 C T 13: 69,500,080 G489S probably damaging Het
Pcdh18 A T 3: 49,754,782 S695T probably benign Het
Pcdha1 T C 18: 36,930,535 I84T probably damaging Het
Plek T A 11: 16,994,760 D90V possibly damaging Het
Ppp6r1 A G 7: 4,646,826 C47R probably damaging Het
Psg27 G C 7: 18,556,873 N468K probably benign Het
Ptchd4 G A 17: 42,503,868 E887K probably benign Het
Rabgap1 C T 2: 37,540,480 L678F probably damaging Het
Rmdn3 T C 2: 119,138,423 Y429C probably damaging Het
Ros1 A T 10: 52,180,176 C73S probably damaging Het
Rtkn2 G A 10: 67,979,665 probably benign Het
Slc25a42 A G 8: 70,186,702 S242P probably damaging Het
Smtnl1 T A 2: 84,818,409 D167V probably benign Het
Smurf2 A G 11: 106,833,784 L511P probably benign Het
Stbd1 A T 5: 92,605,118 K156* probably null Het
Tenm4 G T 7: 96,896,135 G2453* probably null Het
Tpr A G 1: 150,433,772 K1760E probably damaging Het
Triobp T A 15: 78,978,723 L1427Q probably damaging Het
Uaca A G 9: 60,870,368 E679G probably damaging Het
Ucn3 T G 13: 3,941,421 H77P possibly damaging Het
Wnk2 T A 13: 49,071,091 D998V probably damaging Het
Xrcc3 A G 12: 111,804,535 V320A probably damaging Het
Zdbf2 A G 1: 63,306,766 T1435A possibly damaging Het
Zfp36l2 G T 17: 84,186,433 H259N possibly damaging Het
Zfp619 A T 7: 39,537,762 H1072L probably damaging Het
Zfy2 T A Y: 2,107,127 E502D possibly damaging Het
Zfyve16 G A 13: 92,521,987 P472L probably benign 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
IGL02713:Cd209f APN 8 4103732 missense probably benign 0.13
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
Predicted Primers PCR Primer
(F):5'- AGACCACAGCACTGAGTCTC -3'
(R):5'- CATTGCCTAGCCCCAAATTC -3'

Sequencing Primer
(F):5'- TCAGACTCTGTTAGGCCCAACAG -3'
(R):5'- GCTGGGACATCTAAAGTCCAC -3'
Posted On2019-05-13