Incidental Mutation 'R4461:Siglece'
ID 330146
Institutional Source Beutler Lab
Gene Symbol Siglece
Ensembl Gene ENSMUSG00000030474
Gene Name sialic acid binding Ig-like lectin E
Synonyms Siglecl1, mSiglec-E, Siglec5
MMRRC Submission 041720-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R4461 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 43300494-43309585 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43300929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 462 (Q462R)
Ref Sequence ENSEMBL: ENSMUSP00000032667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032663] [ENSMUST00000032667]
AlphaFold Q91Y57
Predicted Effect probably benign
Transcript: ENSMUST00000032663
SMART Domains Protein: ENSMUSP00000032663
Gene: ENSMUSG00000030472

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG_like 36 135 1.03e2 SMART
IG_like 148 226 5.56e0 SMART
IGc2 248 305 5.24e-7 SMART
transmembrane domain 334 356 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000032667
AA Change: Q462R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032667
Gene: ENSMUSG00000030474
AA Change: Q462R

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 30 146 1.52e-3 SMART
IG 155 239 4.15e0 SMART
IGc2 269 330 6.81e-6 SMART
transmembrane domain 352 374 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206421
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (50/50)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele or a knock-in allele that destroys the sialic acid binding site exhibit increased neutrophil and macrophage recruitment in an LPS-induced model of acute lung ariway inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 T C 17: 66,292,932 (GRCm39) probably null Het
Apex1 T C 14: 51,163,970 (GRCm39) V165A probably damaging Het
Btbd17 C T 11: 114,684,815 (GRCm39) D75N possibly damaging Het
Chd2 T C 7: 73,190,622 (GRCm39) probably benign Het
Coq10a T C 10: 128,200,347 (GRCm39) N138S possibly damaging Het
Ctbp1 A T 5: 33,408,357 (GRCm39) Y192N probably damaging Het
Cx3cl1 A G 8: 95,507,184 (GRCm39) *396W probably null Het
D6Ertd527e T C 6: 87,088,299 (GRCm39) I154T unknown Het
Dao T A 5: 114,157,987 (GRCm39) V203E probably damaging Het
Egr4 G A 6: 85,489,322 (GRCm39) A246V probably damaging Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
H2-Eb2 T A 17: 34,552,497 (GRCm39) V114E possibly damaging Het
Hpgds A G 6: 65,100,618 (GRCm39) L120P probably damaging Het
Ikbke C T 1: 131,193,659 (GRCm39) V464I probably benign Het
Kank2 G A 9: 21,706,041 (GRCm39) Q326* probably null Het
Klhl26 T C 8: 70,904,194 (GRCm39) Y538C probably damaging Het
Klkb1 A G 8: 45,726,612 (GRCm39) S464P probably damaging Het
Kmt2a A G 9: 44,760,263 (GRCm39) Y529H probably damaging Het
Kmt2c A G 5: 25,504,874 (GRCm39) V3478A probably benign Het
Knl1 A C 2: 118,890,080 (GRCm39) N44T probably benign Het
Letm2 A G 8: 26,076,715 (GRCm39) C296R probably damaging Het
Lrrc37a A G 11: 103,355,180 (GRCm39) probably null Het
Med20 T C 17: 47,929,842 (GRCm39) V93A probably benign Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Muc1 A T 3: 89,138,870 (GRCm39) D493V probably damaging Het
Nek2 C T 1: 191,554,827 (GRCm39) P180S probably damaging Het
Nin A T 12: 70,089,359 (GRCm39) M1352K probably benign Het
Or5aq1 T C 2: 86,966,005 (GRCm39) H220R probably benign Het
P3h3 A T 6: 124,822,531 (GRCm39) S547T probably benign Het
Pik3c2g C T 6: 139,787,407 (GRCm39) probably benign Het
Pkd1l3 A G 8: 110,359,345 (GRCm39) probably null Het
Pzp T C 6: 128,501,003 (GRCm39) I118M probably benign Het
Rps6ka5 C A 12: 100,537,123 (GRCm39) D536Y probably damaging Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Sirt3 T C 7: 140,444,913 (GRCm39) D295G possibly damaging Het
Snph G A 2: 151,435,767 (GRCm39) S318L probably benign Het
Snx18 T C 13: 113,753,731 (GRCm39) T401A probably damaging Het
Tefm A G 11: 80,028,875 (GRCm39) probably null Het
Thada T C 17: 84,733,665 (GRCm39) Y994C probably damaging Het
Trmt1 A G 8: 85,425,778 (GRCm39) N531D probably benign Het
Ttc17 A G 2: 94,196,916 (GRCm39) V477A probably benign Het
Ubxn10 T A 4: 138,448,187 (GRCm39) Q163L probably benign Het
Ulk4 A T 9: 120,985,950 (GRCm39) I908N possibly damaging Het
Zfp747l1 A G 7: 126,983,917 (GRCm39) L395P probably damaging Het
Zscan12 C T 13: 21,550,789 (GRCm39) S136L possibly damaging Het
Other mutations in Siglece
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0502:Siglece UTSW 7 43,309,355 (GRCm39) missense probably damaging 1.00
R1766:Siglece UTSW 7 43,300,956 (GRCm39) missense probably damaging 0.99
R1772:Siglece UTSW 7 43,308,717 (GRCm39) missense probably damaging 1.00
R1853:Siglece UTSW 7 43,309,360 (GRCm39) missense probably benign 0.01
R1854:Siglece UTSW 7 43,309,360 (GRCm39) missense probably benign 0.01
R1914:Siglece UTSW 7 43,307,219 (GRCm39) missense probably benign 0.03
R2060:Siglece UTSW 7 43,307,210 (GRCm39) missense probably benign 0.25
R2161:Siglece UTSW 7 43,308,793 (GRCm39) missense probably benign 0.01
R4924:Siglece UTSW 7 43,309,297 (GRCm39) missense probably damaging 1.00
R4975:Siglece UTSW 7 43,308,396 (GRCm39) critical splice donor site probably null
R5864:Siglece UTSW 7 43,308,741 (GRCm39) missense probably damaging 1.00
R5956:Siglece UTSW 7 43,308,760 (GRCm39) missense probably damaging 0.99
R7111:Siglece UTSW 7 43,309,327 (GRCm39) missense probably damaging 0.99
R8395:Siglece UTSW 7 43,305,523 (GRCm39) missense probably benign 0.03
R8490:Siglece UTSW 7 43,309,486 (GRCm39) missense probably benign
R9218:Siglece UTSW 7 43,307,162 (GRCm39) missense possibly damaging 0.81
R9535:Siglece UTSW 7 43,307,055 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGTCAAGCTTATGATTCCCAGG -3'
(R):5'- ACAGAATCCCCTGGTTGAATC -3'

Sequencing Primer
(F):5'- GCTTATGATTCCCAGGGCACAATAG -3'
(R):5'- CTGGTTGAATCCCAGGCAGATG -3'
Posted On 2015-07-21