Incidental Mutation 'R8411:Siglecf'
ID 652677
Institutional Source Beutler Lab
Gene Symbol Siglecf
Ensembl Gene ENSMUSG00000039013
Gene Name sialic acid binding Ig-like lectin F
Synonyms mSiglec-F, Siglec5
MMRRC Submission 067881-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8411 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 43000765-43008955 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43001368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 112 (F112S)
Ref Sequence ENSEMBL: ENSMUSP00000146009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012798] [ENSMUST00000121494] [ENSMUST00000122423] [ENSMUST00000206299]
AlphaFold Q920G3
Predicted Effect probably damaging
Transcript: ENSMUST00000012798
AA Change: F112S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000012798
Gene: ENSMUSG00000039013
AA Change: F112S

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
IG 25 131 6.07e-3 SMART
IG_like 142 226 4.91e1 SMART
IGc2 256 315 8.7e-13 SMART
transmembrane domain 440 462 N/A INTRINSIC
low complexity region 486 500 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121494
AA Change: F112S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112583
Gene: ENSMUSG00000039013
AA Change: F112S

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
IG 25 131 6.07e-3 SMART
IG_like 142 226 4.91e1 SMART
IGc2 256 315 8.7e-13 SMART
Pfam:Ig_2 329 421 2.4e-3 PFAM
transmembrane domain 440 462 N/A INTRINSIC
low complexity region 486 500 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000122423
AA Change: F112S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113245
Gene: ENSMUSG00000039013
AA Change: F112S

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
IG 25 131 6.07e-3 SMART
IG_like 142 226 4.91e1 SMART
IGc2 256 315 8.7e-13 SMART
Pfam:Ig_2 329 421 5.1e-4 PFAM
transmembrane domain 440 462 N/A INTRINSIC
low complexity region 486 500 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145867
Predicted Effect probably damaging
Transcript: ENSMUST00000206299
AA Change: F112S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4584 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic cells. SIGLEC8 is a member of the CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4 and have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see MIM 604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM; MIM 603492) that mediates an association with SLAM-associated protein (SAP; MIM 300490) (summarized by Foussias et al., 2000 [PubMed 11095983]).[supplied by OMIM, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased lung inflammation in response to ovalbumin challenge with increased eosinophils, delayed eosinophil resolution and impaired eosinophil apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A G 5: 113,285,588 (GRCm39) S89P probably benign Het
Aatf A T 11: 84,361,502 (GRCm39) M367K probably benign Het
Adam18 A T 8: 25,142,143 (GRCm39) I211N probably damaging Het
Angpt1 T C 15: 42,290,430 (GRCm39) Y478C probably damaging Het
Apba2 A T 7: 64,386,674 (GRCm39) I434F probably damaging Het
Arfgef1 T A 1: 10,286,759 (GRCm39) K50N probably benign Het
Arfgef2 A T 2: 166,715,903 (GRCm39) Q1397H probably benign Het
Ascc2 G A 11: 4,597,208 (GRCm39) R129Q probably damaging Het
Atxn1 A G 13: 45,720,032 (GRCm39) V621A probably benign Het
Catsperz A T 19: 6,899,930 (GRCm39) L192M probably benign Het
Cd5 G A 19: 10,697,585 (GRCm39) P465S probably damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cfap61 A G 2: 145,789,103 (GRCm39) E94G probably benign Het
Chd1 A G 17: 15,982,711 (GRCm39) H1392R probably damaging Het
Csnk1a1 A G 18: 61,688,888 (GRCm39) I23V probably benign Het
Ctnnd2 C T 15: 30,647,179 (GRCm39) R292C probably benign Het
Dcaf6 T A 1: 165,216,244 (GRCm39) H453L probably benign Het
Dnah3 C A 7: 119,610,253 (GRCm39) D1728Y probably damaging Het
Dtx3 T C 10: 127,028,693 (GRCm39) K179E possibly damaging Het
Fam3b T A 16: 97,283,053 (GRCm39) Y74F probably benign Het
Gm5464 T C 14: 67,106,555 (GRCm39) L64P unknown Het
Gm5624 T G 14: 44,799,347 (GRCm39) N70T Het
Kcnh7 T A 2: 62,594,952 (GRCm39) H706L probably damaging Het
Kdm2b C T 5: 123,018,239 (GRCm39) R1067H probably damaging Het
Klhl28 A T 12: 64,996,864 (GRCm39) H492Q probably damaging Het
Loxl3 T A 6: 83,027,605 (GRCm39) C716S probably damaging Het
Ltbp2 A G 12: 84,833,187 (GRCm39) Y1474H probably damaging Het
Mcm3 C T 1: 20,886,980 (GRCm39) V142I probably benign Het
Mmp24 G T 2: 155,655,935 (GRCm39) V458L probably benign Het
Mpl C A 4: 118,303,306 (GRCm39) S502I Het
Nfatc1 A T 18: 80,710,257 (GRCm39) V503D probably damaging Het
Nim1k A G 13: 120,175,807 (GRCm39) I133T possibly damaging Het
Nr1d2 T C 14: 18,215,031 (GRCm38) Y327C probably damaging Het
Oma1 C T 4: 103,186,113 (GRCm39) R360* probably null Het
Oog2 T A 4: 143,920,743 (GRCm39) W59R probably damaging Het
Or4c109 T C 2: 88,818,409 (GRCm39) T46A probably benign Het
Pcdh10 A G 3: 45,333,974 (GRCm39) E96G probably damaging Het
Pcna T A 2: 132,093,850 (GRCm39) T98S probably benign Het
Pcnx3 C T 19: 5,729,618 (GRCm39) C899Y possibly damaging Het
Phf11d T C 14: 59,593,883 (GRCm39) N97S probably benign Het
Plekhg4 G A 8: 106,103,961 (GRCm39) W431* probably null Het
Plk4 A G 3: 40,767,901 (GRCm39) T815A probably benign Het
Pnma2 C T 14: 67,153,762 (GRCm39) T62I possibly damaging Het
Ppp1r9a C T 6: 5,057,568 (GRCm39) R548W probably damaging Het
Ptx3 A G 3: 66,132,201 (GRCm39) S241G probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rplp0 A T 5: 115,698,823 (GRCm39) K26N probably damaging Het
Sec62 A C 3: 30,872,931 (GRCm39) E338A unknown Het
Sema6a T C 18: 47,382,022 (GRCm39) M842V probably benign Het
Serpina3j T C 12: 104,281,043 (GRCm39) V72A probably benign Het
Slc29a4 A G 5: 142,705,880 (GRCm39) N455D probably damaging Het
Slc6a11 T A 6: 114,108,398 (GRCm39) F54Y probably benign Het
Spag6 G A 2: 18,715,394 (GRCm39) V80M probably damaging Het
Spic T C 10: 88,514,498 (GRCm39) E34G possibly damaging Het
Tecpr2 A G 12: 110,898,154 (GRCm39) K469E possibly damaging Het
Them7 T A 2: 105,128,190 (GRCm39) L57Q probably benign Het
Tlr3 G A 8: 45,849,978 (GRCm39) A897V probably damaging Het
Tnp2 A G 16: 10,606,372 (GRCm39) C32R possibly damaging Het
Trpm6 A T 19: 18,831,332 (GRCm39) Q1399L probably benign Het
Ttn C A 2: 76,677,015 (GRCm39) E11074* probably null Het
Ubash3b G A 9: 40,954,781 (GRCm39) A243V probably benign Het
Vash1 G A 12: 86,726,952 (GRCm39) R64Q possibly damaging Het
Vmn1r167 T A 7: 23,204,981 (GRCm39) M12L possibly damaging Het
Vmn2r111 T A 17: 22,767,562 (GRCm39) H645L probably benign Het
Vmn2r75 A T 7: 85,797,722 (GRCm39) I697K probably damaging Het
Vmn2r87 A G 10: 130,308,126 (GRCm39) I704T probably damaging Het
Other mutations in Siglecf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Siglecf APN 7 43,001,377 (GRCm39) nonsense probably null
IGL01350:Siglecf APN 7 43,005,319 (GRCm39) intron probably benign
IGL01458:Siglecf APN 7 43,004,562 (GRCm39) missense possibly damaging 0.46
IGL01582:Siglecf APN 7 43,008,145 (GRCm39) missense possibly damaging 0.55
IGL02347:Siglecf APN 7 43,001,145 (GRCm39) missense possibly damaging 0.78
IGL02530:Siglecf APN 7 43,001,634 (GRCm39) missense probably benign 0.07
IGL02700:Siglecf APN 7 43,001,802 (GRCm39) missense probably damaging 1.00
IGL03093:Siglecf APN 7 43,001,865 (GRCm39) missense probably damaging 1.00
IGL03178:Siglecf APN 7 43,008,163 (GRCm39) missense probably damaging 0.98
IGL03280:Siglecf APN 7 43,005,354 (GRCm39) missense probably benign 0.04
ANU23:Siglecf UTSW 7 43,001,377 (GRCm39) nonsense probably null
R0003:Siglecf UTSW 7 43,005,350 (GRCm39) missense probably benign
R0025:Siglecf UTSW 7 43,001,349 (GRCm39) missense probably benign 0.29
R0304:Siglecf UTSW 7 43,001,825 (GRCm39) missense probably damaging 1.00
R0345:Siglecf UTSW 7 43,001,368 (GRCm39) missense probably damaging 1.00
R0395:Siglecf UTSW 7 43,005,399 (GRCm39) missense probably damaging 1.00
R0515:Siglecf UTSW 7 43,005,055 (GRCm39) critical splice donor site probably null
R1296:Siglecf UTSW 7 43,005,344 (GRCm39) nonsense probably null
R1861:Siglecf UTSW 7 43,004,967 (GRCm39) missense probably benign 0.01
R1861:Siglecf UTSW 7 43,001,648 (GRCm39) missense probably benign 0.00
R1869:Siglecf UTSW 7 43,004,967 (GRCm39) missense probably benign 0.01
R1870:Siglecf UTSW 7 43,004,967 (GRCm39) missense probably benign 0.01
R1871:Siglecf UTSW 7 43,004,967 (GRCm39) missense probably benign 0.01
R2063:Siglecf UTSW 7 43,001,804 (GRCm39) missense possibly damaging 0.79
R2176:Siglecf UTSW 7 43,001,140 (GRCm39) missense probably damaging 0.98
R2237:Siglecf UTSW 7 43,004,409 (GRCm39) missense probably benign 0.06
R4023:Siglecf UTSW 7 43,004,995 (GRCm39) missense possibly damaging 0.56
R4498:Siglecf UTSW 7 43,001,700 (GRCm39) missense possibly damaging 0.47
R4664:Siglecf UTSW 7 43,005,837 (GRCm39) missense possibly damaging 0.75
R5227:Siglecf UTSW 7 43,001,364 (GRCm39) missense probably damaging 1.00
R5315:Siglecf UTSW 7 43,004,532 (GRCm39) missense probably benign 0.01
R5763:Siglecf UTSW 7 43,005,744 (GRCm39) nonsense probably null
R5828:Siglecf UTSW 7 43,001,137 (GRCm39) missense probably damaging 1.00
R5871:Siglecf UTSW 7 43,005,045 (GRCm39) missense probably benign 0.04
R5952:Siglecf UTSW 7 43,005,351 (GRCm39) missense probably benign 0.00
R6054:Siglecf UTSW 7 43,004,430 (GRCm39) missense probably damaging 1.00
R6537:Siglecf UTSW 7 43,005,423 (GRCm39) missense probably benign
R6854:Siglecf UTSW 7 43,001,604 (GRCm39) missense probably benign 0.00
R6875:Siglecf UTSW 7 43,004,624 (GRCm39) missense probably benign 0.04
R7328:Siglecf UTSW 7 43,001,691 (GRCm39) missense possibly damaging 0.92
R7329:Siglecf UTSW 7 43,001,395 (GRCm39) missense probably damaging 1.00
R7356:Siglecf UTSW 7 43,005,855 (GRCm39) missense probably benign 0.00
R7369:Siglecf UTSW 7 43,001,241 (GRCm39) missense probably damaging 0.99
R7659:Siglecf UTSW 7 43,001,194 (GRCm39) missense probably damaging 1.00
R7984:Siglecf UTSW 7 43,004,655 (GRCm39) splice site probably null
R8074:Siglecf UTSW 7 43,001,214 (GRCm39) missense possibly damaging 0.93
R8686:Siglecf UTSW 7 43,005,030 (GRCm39) missense probably benign 0.31
R8724:Siglecf UTSW 7 43,004,976 (GRCm39) missense probably damaging 1.00
R8962:Siglecf UTSW 7 43,001,140 (GRCm39) missense probably damaging 1.00
R9480:Siglecf UTSW 7 43,001,666 (GRCm39) missense possibly damaging 0.79
R9572:Siglecf UTSW 7 43,002,058 (GRCm39) missense possibly damaging 0.83
R9592:Siglecf UTSW 7 43,001,696 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTTGTAGCCTGCCAAGTCC -3'
(R):5'- ACCCTATTTCAAGCCAGGCTTC -3'

Sequencing Primer
(F):5'- TGTAGCCTGCCAAGTCCAGTAC -3'
(R):5'- AGCCAGGCTTCTCTCCCAAC -3'
Posted On 2020-10-20