Incidental Mutation 'R2096:Cd209f'
ID232110
Institutional Source Beutler Lab
Gene Symbol Cd209f
Ensembl Gene ENSMUSG00000051906
Gene NameCD209f antigen
Synonyms1810029C22Rik, SIGNR8
MMRRC Submission 040100-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.124) question?
Stock #R2096 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location4102787-4105835 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 4105537 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 17 (V17A)
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: V17A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000119810
Gene: ENSMUSG00000051906
AA Change: V17A

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: V17A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000116355
Gene: ENSMUSG00000051906
AA Change: V17A

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A G 8: 123,982,456 S120P probably benign Het
Actr3b T A 5: 25,831,745 Y185* probably null Het
Atg101 T A 15: 101,290,501 H162Q possibly damaging Het
BC005561 T C 5: 104,519,969 S786P possibly damaging Het
Btf3 T A 13: 98,313,151 Q109L possibly damaging Het
Camk2d G A 3: 126,780,442 G166D probably damaging Het
Capn7 T G 14: 31,349,887 probably null Het
Cenpf A G 1: 189,653,459 V2208A possibly damaging Het
Cnga1 C T 5: 72,619,061 V20I possibly damaging Het
Comp T C 8: 70,376,063 C182R probably damaging Het
Ctsl A G 13: 64,369,026 probably null Het
Cyp3a44 G T 5: 145,788,405 Q329K probably damaging Het
Dcpp1 A T 17: 23,880,997 probably null Het
Dhx38 A G 8: 109,554,259 V831A probably damaging Het
Dkk2 T C 3: 132,086,097 M22T probably benign Het
Dnah2 C T 11: 69,455,916 E2615K probably damaging Het
Dpy19l3 A G 7: 35,727,288 probably null Het
Fam196b C A 11: 34,402,936 S326Y probably benign Het
Gm12888 T G 4: 121,319,458 I49L probably benign Het
Kif15 T A 9: 122,986,187 M194K probably damaging Het
Mael G T 1: 166,225,675 Q254K probably benign Het
Nek9 T C 12: 85,314,548 D461G probably benign Het
Nlrp12 T C 7: 3,233,195 N819S probably benign Het
Ntng1 T A 3: 109,832,555 N390Y probably damaging Het
Olfr1002 A G 2: 85,648,090 I77T probably benign Het
P2ry14 C T 3: 59,115,317 V250I probably damaging Het
Pcnx2 A T 8: 125,759,248 D1870E probably benign Het
Phf2 T A 13: 48,832,113 K64* probably null Het
Phip T C 9: 82,915,339 H537R possibly damaging Het
Ppa2 A G 3: 133,326,684 T97A probably damaging Het
Psd G A 19: 46,324,649 probably null Het
Psg23 T A 7: 18,614,743 E46D probably damaging Het
Ptch1 T G 13: 63,524,959 E944A probably benign Het
Rab11b A G 17: 33,749,002 Y74H probably damaging Het
Rfc3 A T 5: 151,644,918 S194R probably benign Het
Sema4d A T 13: 51,710,001 I414N probably damaging Het
Serpinb1a A T 13: 32,847,454 D120E probably damaging Het
Snai2 T A 16: 14,706,997 H122Q possibly damaging Het
Spats2l T C 1: 57,946,299 S504P probably benign Het
Sprr2j-ps T C 3: 92,419,105 S96P unknown Het
Sspo G T 6: 48,461,674 V1559L probably benign Het
Tas2r118 T G 6: 23,969,913 I50L possibly damaging Het
Tdrd3 C T 14: 87,506,352 Q573* probably null Het
Tlnrd1 G A 7: 83,882,854 T123I probably benign Het
Tmem214 T A 5: 30,876,370 L555H probably damaging Het
Tmprss12 T A 15: 100,285,236 M153K probably benign Het
Tmprss9 G A 10: 80,889,434 G410S probably damaging Het
Trpm6 T A 19: 18,825,752 M853K probably damaging Het
Vmn1r35 A G 6: 66,678,945 I247T possibly damaging Het
Zcchc7 C A 4: 44,931,059 P404T probably damaging Het
Zzef1 T C 11: 72,872,639 F1371L 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
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
Predicted Primers PCR Primer
(F):5'- ACCAGGGTGGCCAACATAAG -3'
(R):5'- TCAAAGAATCATGGTGAGGCTG -3'

Sequencing Primer
(F):5'- ACTTGGGTCAGATGCCCTG -3'
(R):5'- AATCATGGTGAGGCTGGGTAC -3'
Posted On2014-09-18