Incidental Mutation 'IGL02472:Siglec15'
ID294782
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Siglec15
Ensembl Gene ENSMUSG00000091055
Gene Namesialic acid binding Ig-like lectin 15
SynonymsCd33l3, EG620235
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02472
Quality Score
Status
Chromosome18
Chromosomal Location78043614-78057395 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 78043617 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 342 (K342N)
Ref Sequence ENSEMBL: ENSMUSP00000126901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170760]
Predicted Effect possibly damaging
Transcript: ENSMUST00000170760
AA Change: K342N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126901
Gene: ENSMUSG00000091055
AA Change: K342N

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG 49 165 8.51e-7 SMART
SCOP:d1wwca_ 167 258 8e-10 SMART
Blast:IG_like 171 254 1e-47 BLAST
transmembrane domain 260 282 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted allele exhibit impaired osteoclast differentiation and function and mild osteopetrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik A G 15: 76,950,378 N158S probably damaging Het
Ankrd17 A C 5: 90,264,151 L1285V probably damaging Het
Atp8b2 G A 3: 89,954,239 T267I probably damaging Het
Becn1 C T 11: 101,291,398 G115D probably benign Het
Cd3eap T C 7: 19,359,105 D50G probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Chd6 A C 2: 160,984,452 probably benign Het
Col22a1 A G 15: 71,827,753 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnm2 A G 9: 21,485,708 I494V possibly damaging Het
Dock2 T A 11: 34,249,801 E1416D probably benign Het
Eif2ak1 A G 5: 143,884,883 H339R probably benign Het
Espnl C T 1: 91,340,534 P294L probably benign Het
Ftmt T A 18: 52,331,840 I76N possibly damaging Het
Gorasp2 T G 2: 70,676,459 probably benign Het
Hadhb T A 5: 30,184,063 M468K possibly damaging Het
Hfm1 A G 5: 106,873,928 probably benign Het
Inpp5j T C 11: 3,495,338 probably benign Het
Ipo7 T A 7: 110,040,853 F288I probably damaging Het
Kcnv1 T A 15: 45,109,123 K455* probably null Het
Kdm5a A G 6: 120,406,730 probably benign Het
Kmt2d G A 15: 98,850,077 S3122F probably benign Het
Kndc1 A G 7: 139,910,901 I440V probably benign Het
Mib2 T A 4: 155,656,746 I545F probably damaging Het
Nav2 C T 7: 49,546,041 P1055L probably damaging Het
Olfr111 C A 17: 37,530,749 F257L probably damaging Het
Olfr1257 T A 2: 89,881,411 I195N probably benign Het
Plch1 A T 3: 63,701,849 L65Q probably damaging Het
Ppp3ca A G 3: 136,921,862 I396V possibly damaging Het
Ryr1 A T 7: 29,040,844 N3917K probably damaging Het
Scn7a T C 2: 66,752,314 T80A probably damaging Het
Sema3f C T 9: 107,687,736 E307K probably damaging Het
Serpinb9b A T 13: 33,039,970 probably benign Het
Slc2a12 T C 10: 22,665,155 F303S probably damaging Het
Slc9c1 T C 16: 45,580,142 V705A probably benign Het
Tenm4 T C 7: 96,774,176 probably benign Het
Tm6sf1 A T 7: 81,875,824 probably benign Het
Tmem245 T C 4: 56,899,119 Y269C probably damaging Het
Txndc2 A G 17: 65,637,976 I402T possibly damaging Het
Ube4b A G 4: 149,387,079 probably null Het
Usp28 T A 9: 49,037,769 Y863N possibly damaging Het
Vmn2r69 T C 7: 85,409,752 I534V probably benign Het
Wdr89 A T 12: 75,632,969 D170E probably damaging Het
Zfp280d C A 9: 72,301,711 N74K probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Siglec15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Siglec15 APN 18 78043605 unclassified probably benign
IGL02988:Siglec15 UTSW 18 78049247 missense probably damaging 1.00
PIT4377001:Siglec15 UTSW 18 78057375 start gained probably benign
R0040:Siglec15 UTSW 18 78048877 splice site probably benign
R0607:Siglec15 UTSW 18 78046137 missense probably benign 0.03
R4427:Siglec15 UTSW 18 78043621 missense possibly damaging 0.53
R5023:Siglec15 UTSW 18 78048675 missense probably damaging 1.00
R5994:Siglec15 UTSW 18 78047375 missense probably damaging 1.00
R7052:Siglec15 UTSW 18 78048731 missense probably damaging 1.00
R7807:Siglec15 UTSW 18 78047481 missense probably damaging 1.00
R7827:Siglec15 UTSW 18 78057230 nonsense probably null
R7898:Siglec15 UTSW 18 78043699 missense probably benign 0.19
R7981:Siglec15 UTSW 18 78043699 missense probably benign 0.19
R8052:Siglec15 UTSW 18 78048588 missense possibly damaging 0.46
Posted On2015-04-16