Incidental Mutation 'IGL01582:Siglecf'
ID 91386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Siglecf
Ensembl Gene ENSMUSG00000039013
Gene Name sialic acid binding Ig-like lectin F
Synonyms mSiglec-F, Siglec5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01582
Quality Score
Status
Chromosome 7
Chromosomal Location 43000765-43008955 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43008145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 553 (N553D)
Ref Sequence ENSEMBL: ENSMUSP00000113245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012798] [ENSMUST00000121494] [ENSMUST00000122423] [ENSMUST00000206299]
AlphaFold Q920G3
Predicted Effect possibly damaging
Transcript: ENSMUST00000012798
AA Change: N553D

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000012798
Gene: ENSMUSG00000039013
AA Change: N553D

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 possibly damaging
Transcript: ENSMUST00000122423
AA Change: N553D

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113245
Gene: ENSMUSG00000039013
AA Change: N553D

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 probably benign
Transcript: ENSMUST00000206299
AA Change: N519D

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aurkb G A 11: 68,939,605 (GRCm39) V201I probably damaging Het
Csmd2 G T 4: 128,457,098 (GRCm39) E212* probably null Het
Dsg1a G T 18: 20,461,905 (GRCm39) K335N probably null Het
Epn2 A G 11: 61,412,695 (GRCm39) S430P probably benign Het
Ezh2 A T 6: 47,532,989 (GRCm39) Y144* probably null Het
Fcgbp G T 7: 27,793,067 (GRCm39) D1024Y probably benign Het
Gramd2b A G 18: 56,618,488 (GRCm39) E232G probably damaging Het
Inf2 A G 12: 112,576,993 (GRCm39) K989R unknown Het
Lrpprc G A 17: 85,061,971 (GRCm39) A577V probably null Het
Mansc1 T A 6: 134,598,836 (GRCm39) N27I possibly damaging Het
Nr1i3 A T 1: 171,042,541 (GRCm39) I56F possibly damaging Het
Ntpcr T C 8: 126,471,981 (GRCm39) S64P probably benign Het
Or52e19b A T 7: 103,032,806 (GRCm39) Y134* probably null Het
Ppwd1 A G 13: 104,350,212 (GRCm39) I391T probably benign Het
Serpinb3d A G 1: 107,007,396 (GRCm39) F197L probably damaging Het
Slc2a2 A G 3: 28,762,637 (GRCm39) D60G probably benign Het
Speer1j A G 5: 11,555,240 (GRCm39) T70A probably benign Het
Spsb4 T G 9: 96,878,143 (GRCm39) D60A probably damaging Het
Tnnt1 T C 7: 4,512,982 (GRCm39) E100G probably damaging Het
Zmiz1 T C 14: 25,658,654 (GRCm39) M938T 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
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
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
Posted On 2013-12-09