Incidental Mutation 'R5227:Siglecf'
ID 402677
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 042800-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5227 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 43000765-43008955 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43001364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 111 (Y111H)
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: Y111H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000012798
Gene: ENSMUSG00000039013
AA Change: Y111H

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: Y111H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112583
Gene: ENSMUSG00000039013
AA Change: Y111H

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: Y111H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113245
Gene: ENSMUSG00000039013
AA Change: Y111H

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: Y111H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.2%
  • 20x: 97.2%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T C 17: 84,999,249 (GRCm39) L115P probably damaging Het
Adgrb3 A C 1: 25,133,033 (GRCm39) M481R possibly damaging Het
Adgrd1 C A 5: 129,199,647 (GRCm39) N161K probably benign Het
Alx4 T A 2: 93,507,725 (GRCm39) V340D probably damaging Het
Arid1a A G 4: 133,407,716 (GRCm39) S2264P unknown Het
Azi2 A T 9: 117,876,526 (GRCm39) H14L probably damaging Het
Camsap2 A G 1: 136,202,629 (GRCm39) probably benign Het
Ccpg1 T A 9: 72,919,354 (GRCm39) L323* probably null Het
Cpsf1 A T 15: 76,483,148 (GRCm39) I943N probably damaging Het
Crebrf T A 17: 26,978,739 (GRCm39) Y476N probably damaging Het
Defb10 T A 8: 22,351,894 (GRCm39) Y46* probably null Het
Dock3 A G 9: 106,863,269 (GRCm39) L703P probably damaging Het
Ebf2 A T 14: 67,484,518 (GRCm39) I181F probably damaging Het
Eif3e T A 15: 43,114,917 (GRCm39) M420L probably benign Het
Emilin3 T A 2: 160,751,185 (GRCm39) Q188L probably damaging Het
Fbxl4 C T 4: 22,376,840 (GRCm39) T92M probably damaging Het
Fer1l6 C T 15: 58,453,752 (GRCm39) Q687* probably null Het
Fkrp T C 7: 16,544,635 (GRCm39) E409G possibly damaging Het
Fzd9 T C 5: 135,278,460 (GRCm39) D475G probably benign Het
Gabbr1 C T 17: 37,380,958 (GRCm39) T767I possibly damaging Het
Gdf2 G A 14: 33,663,451 (GRCm39) probably null Het
Gpatch1 T C 7: 35,008,776 (GRCm39) N82D probably benign Het
Heg1 T A 16: 33,583,961 (GRCm39) L1256Q probably damaging Het
Ireb2 T A 9: 54,803,885 (GRCm39) probably null Het
Kansl1 T G 11: 104,247,640 (GRCm39) H570P probably benign Het
Kcna10 T G 3: 107,101,744 (GRCm39) M125R probably damaging Het
Lrp1b T G 2: 40,741,805 (GRCm39) I3041L possibly damaging Het
Mbtd1 T C 11: 93,815,474 (GRCm39) F354S possibly damaging Het
Mideas A T 12: 84,199,661 (GRCm39) F1020I probably benign Het
Mov10 T C 3: 104,709,894 (GRCm39) T331A probably benign Het
Ms4a8a A T 19: 11,045,780 (GRCm39) S243T probably damaging Het
Ndufa11 T C 17: 57,024,867 (GRCm39) S10P probably benign Het
Olfml3 A G 3: 103,643,737 (GRCm39) Y215H possibly damaging Het
Or2t45 T A 11: 58,669,705 (GRCm39) F251I possibly damaging Het
Or56b2j A G 7: 104,353,529 (GRCm39) I252V possibly damaging Het
Pclo T C 5: 14,763,574 (GRCm39) S4016P probably benign Het
Pcyox1 G C 6: 86,368,726 (GRCm39) A264G probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Pnisr A G 4: 21,874,587 (GRCm39) probably benign Het
Prc1 T C 7: 79,962,927 (GRCm39) S574P probably damaging Het
Ranbp3l T A 15: 9,037,186 (GRCm39) V16D probably damaging Het
Rfx1 T C 8: 84,800,687 (GRCm39) V96A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfmbt1 T C 14: 30,537,211 (GRCm39) probably null Het
Snx14 G A 9: 88,280,347 (GRCm39) T536I possibly damaging Het
Spindoc A G 19: 7,351,512 (GRCm39) V204A probably benign Het
Sptbn5 A G 2: 119,915,812 (GRCm39) probably benign Het
Swt1 G A 1: 151,278,727 (GRCm39) Q227* probably null Het
Tg A G 15: 66,631,416 (GRCm39) I562V possibly damaging Het
Trip11 T A 12: 101,851,179 (GRCm39) I677F probably damaging Het
Vmn1r49 G A 6: 90,049,753 (GRCm39) T83I probably benign Het
Vmn1r90 T C 7: 14,295,601 (GRCm39) K166E possibly damaging Het
Vmn2r124 T C 17: 18,269,819 (GRCm39) I25T possibly damaging Het
Vps13d A T 4: 144,907,777 (GRCm39) probably null Het
Zfp106 T C 2: 120,354,449 (GRCm39) I170V 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
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
Predicted Primers PCR Primer
(F):5'- TTGTAGCCTGCCAAGTCCAG -3'
(R):5'- TATGACCCTATTTCAAGCCAGG -3'

Sequencing Primer
(F):5'- AAAGGTCCTGTCTTTGGCTAC -3'
(R):5'- AGCCAGGCTTCTCTCCCAAC -3'
Posted On 2016-07-22