Incidental Mutation 'R6854:Siglecf'
ID 535150
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 044957-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6854 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 43000765-43008955 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43001604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 138 (V138A)
Ref Sequence ENSEMBL: ENSMUSP00000113245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012798] [ENSMUST00000121494] [ENSMUST00000122423] [ENSMUST00000206299]
AlphaFold Q920G3
Predicted Effect probably benign
Transcript: ENSMUST00000012798
AA Change: V138A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000012798
Gene: ENSMUSG00000039013
AA Change: V138A

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 benign
Transcript: ENSMUST00000121494
AA Change: V138A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112583
Gene: ENSMUSG00000039013
AA Change: V138A

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 benign
Transcript: ENSMUST00000122423
AA Change: V138A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000113245
Gene: ENSMUSG00000039013
AA Change: V138A

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 probably benign
Transcript: ENSMUST00000206299
AA Change: V138A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (44/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,992,599 (GRCm39) S4628P probably damaging Het
Aspm G A 1: 139,390,920 (GRCm39) R735H possibly damaging Het
Atp4a T C 7: 30,414,433 (GRCm39) V152A probably benign Het
BC035947 G A 1: 78,475,125 (GRCm39) T469I probably damaging Het
Bicra A T 7: 15,722,687 (GRCm39) S277T probably benign Het
Catsperg1 A T 7: 28,881,127 (GRCm39) N1142K possibly damaging Het
Ccnd3 T C 17: 47,889,645 (GRCm39) probably benign Het
Cdc25a A G 9: 109,708,995 (GRCm39) K79E probably damaging Het
Cfap44 A G 16: 44,269,391 (GRCm39) probably null Het
Chd5 C A 4: 152,467,395 (GRCm39) N1644K probably damaging Het
Flrt3 C T 2: 140,502,638 (GRCm39) R330H probably damaging Het
Gm6034 T A 17: 36,368,110 (GRCm39) probably null Het
Hivep1 A G 13: 42,309,983 (GRCm39) E741G probably damaging Het
Iqgap3 T C 3: 88,004,258 (GRCm39) V448A probably damaging Het
Itsn2 A G 12: 4,702,382 (GRCm39) R679G probably benign Het
Klrb1c A G 6: 128,765,381 (GRCm39) S70P possibly damaging Het
Maml2 C T 9: 13,617,131 (GRCm39) T159I possibly damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Mycl G A 4: 122,894,039 (GRCm39) D280N probably damaging Het
Nlrp1b G A 11: 71,119,259 (GRCm39) T12I possibly damaging Het
Or4f14c T C 2: 111,940,992 (GRCm39) N202D probably benign Het
Or5h19 A C 16: 58,856,428 (GRCm39) I224S possibly damaging Het
Palmd A G 3: 116,717,112 (GRCm39) S462P probably benign Het
Phyhd1 A C 2: 30,159,773 (GRCm39) I36L possibly damaging Het
Plcd1 T C 9: 118,903,389 (GRCm39) probably null Het
Pml G C 9: 58,127,189 (GRCm39) A806G probably damaging Het
Ppp6r1 C A 7: 4,635,395 (GRCm39) A838S probably benign Het
Prkdc C T 16: 15,469,402 (GRCm39) T169I probably damaging Het
Prr23a1 G T 9: 98,724,988 (GRCm39) V117L possibly damaging Het
Pus7 T C 5: 23,973,845 (GRCm39) silent Het
Rdh7 T C 10: 127,724,250 (GRCm39) E78G probably benign Het
Repin1 G T 6: 48,570,825 (GRCm39) probably benign Het
Rptn A G 3: 93,305,430 (GRCm39) N921S possibly damaging Het
Sema4f A G 6: 82,894,983 (GRCm39) L404P probably damaging Het
Serinc4 T A 2: 121,287,031 (GRCm39) M2L probably benign Het
Slc66a3 G A 12: 17,049,830 (GRCm39) L43F probably damaging Het
Speer2 T A 16: 69,655,775 (GRCm39) Q106L probably damaging Het
Sptb G A 12: 76,650,254 (GRCm39) P1821L probably damaging Het
St3gal3 C A 4: 117,815,727 (GRCm39) M107I probably benign Het
Tmem25 T C 9: 44,707,305 (GRCm39) K265E possibly damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Vsig10 G A 5: 117,476,472 (GRCm39) V309I probably benign Het
Zfp318 G GAAGAAA 17: 46,723,468 (GRCm39) probably benign 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
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
R8411:Siglecf UTSW 7 43,001,368 (GRCm39) missense probably damaging 1.00
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'- TCGACACAGGGACGTACTTC -3'
(R):5'- TGAGGTTCAGCTCTGAGGAG -3'

Sequencing Primer
(F):5'- CACAGGGACGTACTTCTTCAGATTG -3'
(R):5'- TCAGCTCTGAGGAGAGGGTG -3'
Posted On 2018-09-12