Incidental Mutation 'R5263:Cd209f'
ID 401553
Institutional Source Beutler Lab
Gene Symbol Cd209f
Ensembl Gene ENSMUSG00000051906
Gene Name CD209f antigen
Synonyms SIGNR8, 1810029C22Rik
MMRRC Submission 042831-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R5263 (G1)
Quality Score 214
Status Not validated
Chromosome 8
Chromosomal Location 4152787-4155835 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4154506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 114 (T114A)
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 benign
Transcript: ENSMUST00000138439
AA Change: T114A

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000119810
Gene: ENSMUSG00000051906
AA Change: T114A

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: T114A

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116355
Gene: ENSMUSG00000051906
AA Change: T114A

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: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 G T 3: 138,133,816 (GRCm39) V309L probably benign Het
Agmo T C 12: 37,407,680 (GRCm39) V188A probably benign Het
Aqr A G 2: 113,947,059 (GRCm39) M1041T probably damaging Het
Arhgef4 T A 1: 34,764,078 (GRCm39) S1111R possibly damaging Het
Ascc3 A C 10: 50,592,757 (GRCm39) E1144D probably benign Het
Cct3 T C 3: 88,228,672 (GRCm39) probably null Het
Cgnl1 G A 9: 71,539,936 (GRCm39) Q1103* probably null Het
Cop1 G A 1: 159,152,507 (GRCm39) D586N probably damaging Het
Dcaf5 A G 12: 80,395,120 (GRCm39) S350P probably damaging Het
Dhx29 T C 13: 113,084,755 (GRCm39) C658R probably damaging Het
Dync1i1 G A 6: 5,969,446 (GRCm39) V424I possibly damaging Het
Gfap C T 11: 102,787,756 (GRCm39) R63Q probably damaging Het
Gm10563 CTTT CTTTATTT 4: 155,698,940 (GRCm39) probably null Het
Gprc6a C A 10: 51,502,900 (GRCm39) G321V probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Izumo1r A G 9: 14,812,976 (GRCm39) C99R probably damaging Het
Lrp1b T C 2: 41,850,691 (GRCm39) D102G probably damaging Het
Mettl4 G A 17: 95,047,937 (GRCm39) Q235* probably null Het
Mmrn2 A G 14: 34,121,541 (GRCm39) T804A probably benign Het
Mrgprb5 A G 7: 47,817,937 (GRCm39) V266A probably damaging Het
Ntng1 T C 3: 109,842,188 (GRCm39) D195G probably damaging Het
Pld4 T C 12: 112,731,465 (GRCm39) L206P probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Prkd1 A G 12: 50,435,089 (GRCm39) L546P probably damaging Het
Rhob A T 12: 8,549,232 (GRCm39) M134K probably benign Het
Ryr3 A G 2: 112,548,347 (GRCm39) S3087P possibly damaging Het
Sema6c T C 3: 95,080,463 (GRCm39) L887P probably benign Het
Sltm T C 9: 70,492,081 (GRCm39) S648P unknown Het
Sucnr1 A G 3: 59,994,190 (GRCm39) I239M possibly damaging Het
Tgtp2 T A 11: 48,950,090 (GRCm39) M161L probably damaging Het
Trpm7 A G 2: 126,663,137 (GRCm39) V1037A probably benign Het
Vmn2r13 A T 5: 109,321,841 (GRCm39) H285Q probably benign Het
Zfp971 T A 2: 177,675,555 (GRCm39) C385S probably damaging Het
Zfpm2 T A 15: 40,962,791 (GRCm39) V283E probably benign Het
Zranb1 CTGATGATGATG CTGATGATGATGATG 7: 132,584,556 (GRCm39) probably benign Het
Other mutations in Cd209f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:Cd209f APN 8 4,153,154 (GRCm39) missense probably damaging 1.00
IGL02339:Cd209f APN 8 4,154,483 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- CTTCTGCCTTGGACCTTAGAGC -3'
(R):5'- AGTCTGAGACTCAGTGCTGTG -3'

Sequencing Primer
(F):5'- TTGGACCTTAGAGCCCAGAG -3'
(R):5'- AGACTCAGTGCTGTGGTCTG -3'
Posted On 2016-07-06