Incidental Mutation 'IGL02410:Siglecg'
ID292254
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: 0.098) question?
Stock #IGL02410
Quality Score
Status
Chromosome7
Chromosomal Location43408204-43418358 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 43408829 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 47 (P47S)
Ref Sequence ENSEMBL: ENSMUSP00000005592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005592]
Predicted Effect probably damaging
Transcript: ENSMUST00000005592
AA Change: P47S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005592
Gene: ENSMUSG00000030468
AA Change: P47S

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 G A 1: 165,510,408 C197Y probably damaging Het
Ano2 A G 6: 125,815,533 probably null Het
Aqr A G 2: 114,136,917 V539A possibly damaging Het
Bnip3 C A 7: 138,898,799 G21C probably damaging Het
Cul1 T A 6: 47,485,014 M37K probably damaging Het
Dazl T C 17: 50,293,398 probably benign Het
Dsg2 A G 18: 20,602,132 T1056A probably benign Het
Ewsr1 A G 11: 5,093,863 probably benign Het
Fam167b G A 4: 129,578,218 A53V probably benign Het
Fat3 T C 9: 15,997,845 Y2287C probably damaging Het
Gm597 A G 1: 28,778,631 S107P probably benign Het
H2-M10.3 A T 17: 36,366,536 H283Q probably damaging Het
Hectd2 C T 19: 36,595,213 R39* probably null Het
Hnrnph3 A G 10: 63,015,724 probably benign Het
Hps4 T C 5: 112,370,227 V362A probably benign Het
Igkv9-120 A C 6: 68,050,043 probably benign Het
Krt16 A T 11: 100,246,336 probably benign Het
Lamc3 A G 2: 31,905,965 T417A probably damaging Het
Loxhd1 T C 18: 77,402,952 V1307A probably benign Het
Mpdz T C 4: 81,297,493 E1511G probably benign Het
Nprl3 A T 11: 32,267,539 M1K probably null Het
Olfr1501 A G 19: 13,839,131 I14T probably benign Het
Ppp1r15a A G 7: 45,524,055 V443A probably damaging Het
Psmd1 T G 1: 86,077,437 L198V probably damaging Het
Rapgef4 A T 2: 72,226,594 I566F possibly damaging Het
Rbbp8 T A 18: 11,732,212 D719E probably damaging Het
Siah2 T C 3: 58,676,047 R273G probably damaging Het
Sox6 A G 7: 115,486,744 S621P probably damaging Het
Ttn C A 2: 76,724,934 A30576S probably benign Het
Ttyh1 A G 7: 4,133,899 probably benign Het
Ush2a C T 1: 188,915,997 R4600C probably damaging Het
Usp36 C T 11: 118,276,185 V289M probably damaging Het
Other mutations in Siglecg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00528:Siglecg APN 7 43409057 missense possibly damaging 0.64
IGL00556:Siglecg APN 7 43411795 missense probably benign 0.02
IGL01806:Siglecg APN 7 43411464 splice site probably null
IGL01947:Siglecg APN 7 43408763 missense probably benign 0.43
IGL02257:Siglecg APN 7 43411904 missense probably benign 0.00
IGL02454:Siglecg APN 7 43408895 missense probably benign 0.00
Chamonix UTSW 7 43409422 missense possibly damaging 0.91
Montblanc UTSW 7 43411386 intron probably benign
Shenandoah UTSW 7 43408802 missense probably damaging 0.99
shenandoah2 UTSW 7 43412017 missense possibly damaging 0.82
Sherando UTSW 7 43409057 missense possibly damaging 0.64
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
R7066:Siglecg UTSW 7 43411742 missense probably benign 0.40
R7884:Siglecg UTSW 7 43409279 missense probably benign 0.02
R7967:Siglecg UTSW 7 43409279 missense probably benign 0.02
RF006:Siglecg UTSW 7 43408864 nonsense probably null
Z1177:Siglecg UTSW 7 43412022 missense probably damaging 1.00
Posted On2015-04-16