Incidental Mutation 'IGL02472:Siglec15'
ID 294782
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Siglec15
Ensembl Gene ENSMUSG00000091055
Gene Name sialic acid binding Ig-like lectin 15
Synonyms Cd33l3, EG620235
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02472
Quality Score
Status
Chromosome 18
Chromosomal Location 78086829-78100610 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78086832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 342 (K342N)
Ref Sequence ENSEMBL: ENSMUSP00000126901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170760]
AlphaFold A7E1W8
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: 76,834,578 (GRCm39) N158S probably damaging Het
Ankrd17 A C 5: 90,412,010 (GRCm39) L1285V probably damaging Het
Atp8b2 G A 3: 89,861,546 (GRCm39) T267I probably damaging Het
Becn1 C T 11: 101,182,224 (GRCm39) G115D probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A C 2: 160,826,372 (GRCm39) probably benign Het
Col22a1 A G 15: 71,699,602 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnm2 A G 9: 21,397,004 (GRCm39) I494V possibly damaging Het
Dock2 T A 11: 34,199,801 (GRCm39) E1416D probably benign Het
Eif2ak1 A G 5: 143,821,701 (GRCm39) H339R probably benign Het
Espnl C T 1: 91,268,256 (GRCm39) P294L probably benign Het
Ftmt T A 18: 52,464,912 (GRCm39) I76N possibly damaging Het
Gorasp2 T G 2: 70,506,803 (GRCm39) probably benign Het
Hadhb T A 5: 30,389,061 (GRCm39) M468K possibly damaging Het
Hfm1 A G 5: 107,021,794 (GRCm39) probably benign Het
Inpp5j T C 11: 3,445,338 (GRCm39) probably benign Het
Ipo7 T A 7: 109,640,060 (GRCm39) F288I probably damaging Het
Kcnv1 T A 15: 44,972,519 (GRCm39) K455* probably null Het
Kdm5a A G 6: 120,383,691 (GRCm39) probably benign Het
Kmt2d G A 15: 98,747,958 (GRCm39) S3122F probably benign Het
Kndc1 A G 7: 139,490,817 (GRCm39) I440V probably benign Het
Mib2 T A 4: 155,741,203 (GRCm39) I545F probably damaging Het
Nav2 C T 7: 49,195,789 (GRCm39) P1055L probably damaging Het
Or4c10b T A 2: 89,711,755 (GRCm39) I195N probably benign Het
Or5v1b C A 17: 37,841,640 (GRCm39) F257L probably damaging Het
Plch1 A T 3: 63,609,270 (GRCm39) L65Q probably damaging Het
Polr1g T C 7: 19,093,030 (GRCm39) D50G probably damaging Het
Ppp3ca A G 3: 136,627,623 (GRCm39) I396V possibly damaging Het
Ryr1 A T 7: 28,740,269 (GRCm39) N3917K probably damaging Het
Scn7a T C 2: 66,582,658 (GRCm39) T80A probably damaging Het
Sema3f C T 9: 107,564,935 (GRCm39) E307K probably damaging Het
Serpinb9b A T 13: 33,223,953 (GRCm39) probably benign Het
Slc2a12 T C 10: 22,541,054 (GRCm39) F303S probably damaging Het
Slc9c1 T C 16: 45,400,505 (GRCm39) V705A probably benign Het
Tenm4 T C 7: 96,423,383 (GRCm39) probably benign Het
Tm6sf1 A T 7: 81,525,572 (GRCm39) probably benign Het
Tmem245 T C 4: 56,899,119 (GRCm39) Y269C probably damaging Het
Txndc2 A G 17: 65,944,971 (GRCm39) I402T possibly damaging Het
Ube4b A G 4: 149,471,536 (GRCm39) probably null Het
Usp28 T A 9: 48,949,069 (GRCm39) Y863N possibly damaging Het
Vmn2r69 T C 7: 85,058,960 (GRCm39) I534V probably benign Het
Wdr89 A T 12: 75,679,743 (GRCm39) D170E probably damaging Het
Zfp280d C A 9: 72,208,993 (GRCm39) N74K probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Siglec15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Siglec15 APN 18 78,086,820 (GRCm39) unclassified probably benign
IGL02988:Siglec15 UTSW 18 78,092,462 (GRCm39) missense probably damaging 1.00
PIT4377001:Siglec15 UTSW 18 78,100,590 (GRCm39) start gained probably benign
R0040:Siglec15 UTSW 18 78,092,092 (GRCm39) splice site probably benign
R0607:Siglec15 UTSW 18 78,089,352 (GRCm39) missense probably benign 0.03
R4427:Siglec15 UTSW 18 78,086,836 (GRCm39) missense possibly damaging 0.53
R5023:Siglec15 UTSW 18 78,091,890 (GRCm39) missense probably damaging 1.00
R5994:Siglec15 UTSW 18 78,090,590 (GRCm39) missense probably damaging 1.00
R7052:Siglec15 UTSW 18 78,091,946 (GRCm39) missense probably damaging 1.00
R7807:Siglec15 UTSW 18 78,090,696 (GRCm39) missense probably damaging 1.00
R7827:Siglec15 UTSW 18 78,100,445 (GRCm39) nonsense probably null
R7898:Siglec15 UTSW 18 78,086,914 (GRCm39) missense probably benign 0.19
R8052:Siglec15 UTSW 18 78,091,803 (GRCm39) missense possibly damaging 0.46
R9077:Siglec15 UTSW 18 78,091,983 (GRCm39) missense possibly damaging 0.68
Posted On 2015-04-16