Incidental Mutation 'IGL03178:Siglecf'
ID412071
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Siglecf
Ensembl Gene ENSMUSG00000039013
Gene Namesialic acid binding Ig-like lectin F
SynonymsmSiglec-F, Siglec5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03178
Quality Score
Status
Chromosome7
Chromosomal Location43351341-43359531 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43358739 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 559 (S559P)
Ref Sequence ENSEMBL: ENSMUSP00000113245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012798] [ENSMUST00000121494] [ENSMUST00000122423] [ENSMUST00000206299]
Predicted Effect probably damaging
Transcript: ENSMUST00000012798
AA Change: S559P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000012798
Gene: ENSMUSG00000039013
AA Change: S559P

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
SMART Domains Protein: ENSMUSP00000112583
Gene: ENSMUSG00000039013

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: S559P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113245
Gene: ENSMUSG00000039013
AA Change: S559P

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: ENSMUST00000145867
Predicted Effect possibly damaging
Transcript: ENSMUST00000206299
AA Change: S525P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add1 A G 5: 34,614,245 probably null Het
Alpk1 A T 3: 127,680,221 L711* probably null Het
Arfgef3 A T 10: 18,613,225 W1291R probably damaging Het
Arhgef10l A G 4: 140,544,428 V545A possibly damaging Het
Best3 A G 10: 116,988,779 Y50C probably damaging Het
C1qtnf2 C A 11: 43,490,989 D179E probably damaging Het
C87977 A G 4: 144,208,251 probably null Het
Cdc40 A T 10: 40,847,989 S268T probably benign Het
Ces1a C T 8: 93,020,889 G505R probably damaging Het
Cpd A T 11: 76,806,051 N683K probably benign Het
D430041D05Rik A T 2: 104,221,211 I767N probably damaging Het
Diras1 G T 10: 81,022,377 F13L possibly damaging Het
Dnah7c A G 1: 46,467,365 N201D probably benign Het
Dpy19l3 A T 7: 35,729,729 Y9* probably null Het
Ect2 T A 3: 27,148,860 I79L probably benign Het
Eif2b4 A T 5: 31,187,653 I550N probably damaging Het
Enpp2 T A 15: 54,866,006 M476L probably benign Het
Gm20425 A G 9: 103,210,552 Y654H probably damaging Het
Gm5884 T C 6: 128,645,727 noncoding transcript Het
Gm7257 T G 9: 36,432,836 S38R probably benign Het
Gtf3c6 A T 10: 40,249,722 D166E probably benign Het
Gucy2c A T 6: 136,729,239 probably benign Het
Inpp5b A G 4: 124,785,254 T485A probably benign Het
Insrr A G 3: 87,802,541 probably null Het
Lig3 T C 11: 82,789,722 probably benign Het
Lmo7 T A 14: 101,929,260 Y1047* probably null Het
Map4k4 A G 1: 39,986,693 E281G possibly damaging Het
Mmel1 A G 4: 154,890,854 T431A possibly damaging Het
Myh10 T C 11: 68,699,413 V58A probably benign Het
Myo1e A T 9: 70,286,949 H14L possibly damaging Het
Myo1g C T 11: 6,512,181 V594M probably damaging Het
Nr4a2 G A 2: 57,110,766 R226C probably damaging Het
Obox3 A G 7: 15,627,277 L21P probably benign Het
Olfr1383 A G 11: 49,523,990 D89G possibly damaging Het
Phlpp1 T A 1: 106,392,388 I1371N probably damaging Het
Proser3 G A 7: 30,543,609 A181V probably damaging Het
Pudp A T 18: 50,568,401 L87Q probably benign Het
Slc22a16 A G 10: 40,573,760 H85R probably benign Het
Spata32 T C 11: 103,210,762 D15G probably benign Het
Spata5 T C 3: 37,578,783 L846P probably damaging Het
Szt2 G A 4: 118,382,689 A1899V unknown Het
Tcrg-V7 C A 13: 19,178,041 probably benign Het
Tomm40 C T 7: 19,701,834 V324M probably damaging Het
Ttll4 C T 1: 74,680,408 P25S probably damaging Het
Vps13b G T 15: 35,869,300 C2650F probably damaging Het
Wdr83os T C 8: 85,081,241 L40P probably damaging Het
Zfp977 T C 7: 42,582,648 R64G probably damaging Het
Other mutations in Siglecf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Siglecf APN 7 43351953 nonsense probably null
IGL01350:Siglecf APN 7 43355895 intron probably benign
IGL01458:Siglecf APN 7 43355138 missense possibly damaging 0.46
IGL01582:Siglecf APN 7 43358721 missense possibly damaging 0.55
IGL02347:Siglecf APN 7 43351721 missense possibly damaging 0.78
IGL02530:Siglecf APN 7 43352210 missense probably benign 0.07
IGL02700:Siglecf APN 7 43352378 missense probably damaging 1.00
IGL03093:Siglecf APN 7 43352441 missense probably damaging 1.00
IGL03280:Siglecf APN 7 43355930 missense probably benign 0.04
ANU23:Siglecf UTSW 7 43351953 nonsense probably null
R0003:Siglecf UTSW 7 43355926 missense probably benign
R0025:Siglecf UTSW 7 43351925 missense probably benign 0.29
R0304:Siglecf UTSW 7 43352401 missense probably damaging 1.00
R0345:Siglecf UTSW 7 43351944 missense probably damaging 1.00
R0395:Siglecf UTSW 7 43355975 missense probably damaging 1.00
R0515:Siglecf UTSW 7 43355631 critical splice donor site probably null
R1296:Siglecf UTSW 7 43355920 nonsense probably null
R1861:Siglecf UTSW 7 43352224 missense probably benign 0.00
R1861:Siglecf UTSW 7 43355543 missense probably benign 0.01
R1869:Siglecf UTSW 7 43355543 missense probably benign 0.01
R1870:Siglecf UTSW 7 43355543 missense probably benign 0.01
R1871:Siglecf UTSW 7 43355543 missense probably benign 0.01
R2063:Siglecf UTSW 7 43352380 missense possibly damaging 0.79
R2176:Siglecf UTSW 7 43351716 missense probably damaging 0.98
R2237:Siglecf UTSW 7 43354985 missense probably benign 0.06
R4023:Siglecf UTSW 7 43355571 missense possibly damaging 0.56
R4498:Siglecf UTSW 7 43352276 missense possibly damaging 0.47
R4664:Siglecf UTSW 7 43356413 missense possibly damaging 0.75
R5227:Siglecf UTSW 7 43351940 missense probably damaging 1.00
R5315:Siglecf UTSW 7 43355108 missense probably benign 0.01
R5763:Siglecf UTSW 7 43356320 nonsense probably null
R5828:Siglecf UTSW 7 43351713 missense probably damaging 1.00
R5871:Siglecf UTSW 7 43355621 missense probably benign 0.04
R5952:Siglecf UTSW 7 43355927 missense probably benign 0.00
R6054:Siglecf UTSW 7 43355006 missense probably damaging 1.00
R6537:Siglecf UTSW 7 43355999 missense probably benign
R6854:Siglecf UTSW 7 43352180 missense probably benign 0.00
R6875:Siglecf UTSW 7 43355200 missense probably benign 0.04
R7328:Siglecf UTSW 7 43352267 missense possibly damaging 0.92
R7329:Siglecf UTSW 7 43351971 missense probably damaging 1.00
R7356:Siglecf UTSW 7 43356431 missense probably benign 0.00
R7369:Siglecf UTSW 7 43351817 missense probably damaging 0.99
R7659:Siglecf UTSW 7 43351770
Posted On2016-08-02