Incidental Mutation 'IGL00556:Siglecg'
ID5271
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Siglecg
Ensembl Gene ENSMUSG00000030468
Gene Namesialic acid binding Ig-like lectin G
SynonymsmSiglec-G, A630096C01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL00556
Quality Score
Status
Chromosome7
Chromosomal Location43408204-43418358 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 43411795 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 431 (I431F)
Ref Sequence ENSEMBL: ENSMUSP00000005592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005592]
Predicted Effect probably benign
Transcript: ENSMUST00000005592
AA Change: I431F

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000005592
Gene: ENSMUSG00000030468
AA Change: I431F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IG 27 139 5.21e-2 SMART
IG_like 148 232 8.97e0 SMART
IGc2 262 325 3.38e-10 SMART
IGc2 366 427 8.26e-5 SMART
low complexity region 473 480 N/A INTRINSIC
transmembrane domain 545 564 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154322
SMART Domains
(Predicted Sequence)

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IG 27 139 1.8e-4 SMART
IG_like 148 232 2.9e-2 SMART
IGc2 262 325 1.1e-12 SMART
IGc2 366 427 2.7e-7 SMART
Blast:IG_like 450 523 N/A BLAST
transmembrane domain 545 564 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SIGLECs are members of the immunoglobulin superfamily that are expressed on the cell surface. Most SIGLECs have 1 or more cytoplasmic immune receptor tyrosine-based inhibitory motifs, or ITIMs. SIGLECs are typically expressed on cells of the innate immune system, with the exception of the B-cell expressed SIGLEC6 (MIM 604405).[supplied by OMIM, Jul 2002]
PHENOTYPE: Mice homozygous for a null allele exhibit increased B-1 cell numbers, increased IgM levels and IgM-producing plasma cells, and produce more IgM autoantibodies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,784,457 D356G probably benign Het
Abca12 T C 1: 71,353,757 I108V probably benign Het
Atad2 A G 15: 58,100,080 I723T probably damaging Het
Cct4 T A 11: 22,997,656 V233E possibly damaging Het
Ces1a A G 8: 93,045,059 Y37H probably benign Het
Cgnl1 C T 9: 71,656,056 R863Q probably benign Het
Fam13b T C 18: 34,497,435 D90G probably damaging Het
Fhdc1 A T 3: 84,457,242 D232E possibly damaging Het
Gm6370 A G 5: 146,493,913 T303A probably benign Het
Gsdmc2 A G 15: 63,828,271 probably benign Het
Kif13b T A 14: 64,744,888 N516K probably damaging Het
Med1 A G 11: 98,155,684 S1414P probably benign Het
Med4 T C 14: 73,517,267 M190T probably damaging Het
Myo15b T C 11: 115,891,916 V1534A possibly damaging Het
Neb T C 2: 52,191,949 R1722G probably benign Het
Obp2b A T 2: 25,738,581 I116F probably damaging Het
Rims2 A G 15: 39,456,674 probably null Het
Thap12 T A 7: 98,716,137 V504D possibly damaging Het
Tlr7 A C X: 167,308,475 M5R possibly damaging Het
Tubgcp6 A G 15: 89,100,962 V1641A probably damaging Het
Ugt2b1 T A 5: 86,926,196 L101F probably benign Het
Xdh A T 17: 73,884,435 *1336R probably null Het
Other mutations in Siglecg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00528:Siglecg APN 7 43409057 missense possibly damaging 0.64
IGL01806:Siglecg APN 7 43411464 unclassified probably null
IGL01947:Siglecg APN 7 43408763 missense probably benign 0.43
IGL02257:Siglecg APN 7 43411904 missense probably benign 0.00
IGL02410:Siglecg APN 7 43408829 missense probably damaging 0.99
IGL02454:Siglecg APN 7 43408895 missense probably benign 0.00
Montblanc UTSW 7 43411386 intron unknown
Shenandoah UTSW 7 43408802 missense probably damaging 0.99
shenandoah2 UTSW 7 43412017 missense possibly damaging 0.82
IGL02988:Siglecg UTSW 7 43418052 missense probably damaging 1.00
R0134:Siglecg UTSW 7 43411171 missense probably damaging 1.00
R0225:Siglecg UTSW 7 43411171 missense probably damaging 1.00
R0480:Siglecg UTSW 7 43411126 missense probably benign 0.42
R1538:Siglecg UTSW 7 43417889 missense possibly damaging 0.53
R1681:Siglecg UTSW 7 43408941 missense probably benign 0.17
R2358:Siglecg UTSW 7 43409422 missense possibly damaging 0.91
R4428:Siglecg UTSW 7 43417926 missense possibly damaging 0.84
R4429:Siglecg UTSW 7 43417926 missense possibly damaging 0.84
R4736:Siglecg UTSW 7 43417908 missense probably benign 0.03
R4754:Siglecg UTSW 7 43411871 intron probably benign
R5017:Siglecg UTSW 7 43411386 intron probably benign
R5713:Siglecg UTSW 7 43408802 missense probably damaging 0.99
R5777:Siglecg UTSW 7 43409413 missense possibly damaging 0.80
R5892:Siglecg UTSW 7 43412204 intron probably benign
R6153:Siglecg UTSW 7 43412017 missense possibly damaging 0.82
R6154:Siglecg UTSW 7 43412017 missense possibly damaging 0.82
R6331:Siglecg UTSW 7 43408754 missense possibly damaging 0.83
R6562:Siglecg UTSW 7 43409057 missense possibly damaging 0.64
R6749:Siglecg UTSW 7 43408979 missense probably benign 0.00
Posted OnApr 20, 2012