Incidental Mutation 'IGL02347:Siglecf'
ID289323
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 #IGL02347
Quality Score
Status
Chromosome7
Chromosomal Location43351341-43359531 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 43351721 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 38 (V38I)
Ref Sequence ENSEMBL: ENSMUSP00000146009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012798] [ENSMUST00000121494] [ENSMUST00000122423] [ENSMUST00000206299]
Predicted Effect probably benign
Transcript: ENSMUST00000012798
AA Change: V38I

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000012798
Gene: ENSMUSG00000039013
AA Change: V38I

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 possibly damaging
Transcript: ENSMUST00000121494
AA Change: V38I

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112583
Gene: ENSMUSG00000039013
AA Change: V38I

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: V38I

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113245
Gene: ENSMUSG00000039013
AA Change: V38I

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 possibly damaging
Transcript: ENSMUST00000206299
AA Change: V38I

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A T 6: 96,165,530 Y178N probably damaging Het
9830107B12Rik T A 17: 48,145,664 K35* probably null Het
Adad2 G T 8: 119,616,669 G546V probably damaging Het
Bccip A G 7: 133,709,376 K7E probably benign Het
C8b G A 4: 104,786,954 E273K probably benign Het
Car12 T A 9: 66,764,347 V352D possibly damaging Het
Cyp2d11 G A 15: 82,390,480 R299C probably benign Het
Dnah10 A C 5: 124,833,423 probably null Het
Egf A T 3: 129,678,377 N1199K probably benign Het
Ehbp1l1 A G 19: 5,719,572 W568R possibly damaging Het
Emc3 A G 6: 113,520,572 M106T possibly damaging Het
Epp13 A G 7: 6,269,884 I79M possibly damaging Het
Fam13b T C 18: 34,454,704 K514E probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Frg2f1 A C 4: 119,530,732 L190R probably damaging Het
Frmpd1 A G 4: 45,270,023 probably null Het
Glis3 A G 19: 28,531,883 F234L probably benign Het
Gm2035 T C 12: 87,919,589 D90G probably damaging Het
Grap2 T C 15: 80,646,356 probably benign Het
H2-M10.2 T A 17: 36,285,613 E113D probably benign Het
Itgb6 T C 2: 60,611,412 T685A probably benign Het
Mrpl19 A T 6: 81,962,011 M270K probably damaging Het
Msantd4 G T 9: 4,384,734 probably benign Het
Msr1 G T 8: 39,632,737 T34K probably damaging Het
Npc1 C T 18: 12,199,634 V780M probably benign Het
Nsun6 A G 2: 15,030,020 probably benign Het
Nt5c2 A G 19: 46,924,256 probably benign Het
Nucb2 A C 7: 116,535,878 Q340P probably benign Het
Olfr168 A G 16: 19,530,779 L47P probably damaging Het
Olfr401 C T 11: 74,121,571 T94I probably benign Het
Osgin1 A G 8: 119,445,538 E357G probably benign Het
Pabpc6 C T 17: 9,669,064 R186K probably benign Het
Pex1 A G 5: 3,603,350 K83R probably damaging Het
Ppid A G 3: 79,595,219 I82V probably benign Het
Pygl C T 12: 70,201,892 G318S probably benign Het
Rcn1 A T 2: 105,399,126 V27E probably benign Het
Rnaseh1 A T 12: 28,657,630 probably benign Het
Rnf148 A G 6: 23,654,730 V89A probably benign Het
Slc13a5 T C 11: 72,258,954 probably null Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Sos2 A T 12: 69,596,746 D953E probably benign Het
Strbp A C 2: 37,645,648 V16G probably benign Het
Sycp1 A T 3: 102,893,547 M567K probably benign Het
Tedc2 A C 17: 24,220,610 V19G probably damaging Het
Tjp1 A G 7: 65,301,064 probably null Het
Ttn A T 2: 76,709,220 V26147E probably damaging Het
Vmn1r86 A G 7: 13,102,647 S51P probably damaging Het
Vmn2r83 A G 10: 79,480,233 T488A possibly damaging Het
Zfp541 A G 7: 16,083,465 Y945C 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
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
IGL03178:Siglecf APN 7 43358739 missense probably damaging 0.98
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 missense probably damaging 1.00
Posted On2015-04-16