Incidental Mutation 'IGL03382:Lilrb4a'
ID420718
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lilrb4a
Ensembl Gene ENSMUSG00000112148
Gene Nameleukocyte immunoglobulin-like receptor, subfamily B, member 4A
SynonymsLilrb4, CD85K, ILT3, HM18, Gp49b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.171) question?
Stock #IGL03382
Quality Score
Status
Chromosome10
Chromosomal Location51490956-51496611 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 51491520 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 53 (W53R)
Ref Sequence ENSEMBL: ENSMUSP00000151694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078778] [ENSMUST00000102894] [ENSMUST00000217705] [ENSMUST00000217706] [ENSMUST00000218123] [ENSMUST00000218617] [ENSMUST00000219696] [ENSMUST00000219960] [ENSMUST00000220182] [ENSMUST00000220226]
Predicted Effect probably benign
Transcript: ENSMUST00000078778
AA Change: W53R

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000077833
Gene: ENSMUSG00000112148
AA Change: W53R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG_like 28 118 4.91e1 SMART
IG_like 129 219 1.84e1 SMART
transmembrane domain 239 261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102894
SMART Domains Protein: ENSMUSP00000099958
Gene: ENSMUSG00000112023

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
SCOP:d1nkr_2 24 118 3e-14 SMART
Blast:IG_like 28 118 5e-49 BLAST
Pfam:Ig_3 123 200 6.5e-8 PFAM
Pfam:Ig_2 123 218 5.9e-8 PFAM
Pfam:ig 127 211 8.4e-9 PFAM
transmembrane domain 239 261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105481
AA Change: W53R

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101121
Gene: ENSMUSG00000062593
AA Change: W53R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG_like 28 118 4.91e1 SMART
IG_like 129 219 1.84e1 SMART
transmembrane domain 239 261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105482
AA Change: W53R

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101122
Gene: ENSMUSG00000062593
AA Change: W53R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG_like 28 118 4.91e1 SMART
IG_like 129 219 1.84e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000217705
Predicted Effect probably benign
Transcript: ENSMUST00000217706
AA Change: W53R

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000218123
AA Change: W53R

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218217
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218413
Predicted Effect probably benign
Transcript: ENSMUST00000218617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219388
Predicted Effect probably benign
Transcript: ENSMUST00000219696
AA Change: W53R

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219848
Predicted Effect probably benign
Transcript: ENSMUST00000219960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220166
Predicted Effect probably benign
Transcript: ENSMUST00000220182
AA Change: W53R

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000220226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220402
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased sensitivity to IgE-dependent passive cutaneous anaphylaxis and a reduced threshold for antigen challenge in active cutaneous anaphylaxis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik C T 19: 29,717,276 G1606R probably damaging Het
Aff1 A G 5: 103,841,060 D831G possibly damaging Het
Amer2 A G 14: 60,379,882 K509E possibly damaging Het
Ankrd6 T C 4: 32,808,771 K449E probably damaging Het
Atp8b2 G A 3: 89,948,521 P459L probably benign Het
Atr C T 9: 95,920,822 R1846* probably null Het
Ccdc159 C A 9: 21,931,696 probably null Het
Ccna1 A C 3: 55,047,277 Y338D probably damaging Het
Cpq A T 15: 33,212,943 E36V probably damaging Het
Cyp2c23 A G 19: 44,014,932 I268T probably damaging Het
Dctn2 G T 10: 127,278,188 Q332H probably damaging Het
Dnah17 T A 11: 118,081,943 I2055F probably damaging Het
Dnmt3b A G 2: 153,686,359 H764R probably damaging Het
Gphn T A 12: 78,481,313 I135K probably damaging Het
Hnrnpul1 A G 7: 25,750,984 M1T probably null Het
Htra4 T C 8: 25,029,698 D406G probably benign Het
Klk10 G T 7: 43,784,459 probably benign Het
Magel2 T C 7: 62,378,713 V455A probably benign Het
Mrgprb5 T C 7: 48,168,694 T98A probably benign Het
Mrps35 T A 6: 147,049,875 C76* probably null Het
Myh7b C T 2: 155,623,479 R701C probably damaging Het
Nbeal1 G A 1: 60,261,586 probably null Het
Neb T A 2: 52,325,708 M196L probably benign Het
Nmd3 A G 3: 69,735,088 K207R probably damaging Het
Plxna4 C T 6: 32,202,194 R962Q probably benign Het
Pom121 T C 5: 135,392,407 K230E unknown Het
Psme4 A G 11: 30,807,788 D307G possibly damaging Het
Rnf41 T G 10: 128,438,280 M267R possibly damaging Het
Sis T C 3: 72,928,719 N846D probably benign Het
Slc22a19 T A 19: 7,681,862 I463L probably benign Het
Slc25a39 A T 11: 102,406,204 probably null Het
Slc35b2 C T 17: 45,566,645 R233C probably damaging Het
Slc4a4 T C 5: 89,228,836 L983P probably damaging Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Tbc1d10a A G 11: 4,209,984 Y123C probably damaging Het
Thbs4 A C 13: 92,769,548 I395S probably benign Het
Triml2 A G 8: 43,193,739 T422A probably benign Het
Ubn2 T C 6: 38,440,447 probably benign Het
Vmn1r15 T A 6: 57,258,570 M141K probably benign Het
Vmn2r80 A G 10: 79,169,528 E333G probably damaging Het
Zfp169 T C 13: 48,491,163 probably benign Het
Zfp942 G A 17: 21,929,102 P182L probably benign Het
Other mutations in Lilrb4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Lilrb4a APN 10 51494065 missense probably benign 0.42
IGL02057:Lilrb4a APN 10 51492007 missense possibly damaging 0.81
IGL02386:Lilrb4a APN 10 51491226 nonsense probably null
IGL02999:Lilrb4a APN 10 51494143 missense probably damaging 1.00
IGL03292:Lilrb4a APN 10 51494846 unclassified probably null
R0276:Lilrb4a UTSW 10 51491581 missense probably benign 0.01
R0470:Lilrb4a UTSW 10 51494827 missense possibly damaging 0.87
R1459:Lilrb4a UTSW 10 51491587 missense probably benign 0.44
R1675:Lilrb4a UTSW 10 51496185 missense probably benign 0.37
R1819:Lilrb4a UTSW 10 51496028 missense probably damaging 1.00
R1914:Lilrb4a UTSW 10 51491949 missense probably benign 0.04
R2265:Lilrb4a UTSW 10 51491537 nonsense probably null
R2338:Lilrb4a UTSW 10 51491700 missense probably benign 0.13
R2884:Lilrb4a UTSW 10 51491613 missense probably benign 0.01
R2886:Lilrb4a UTSW 10 51491613 missense probably benign 0.01
R4322:Lilrb4a UTSW 10 51491611 missense probably damaging 1.00
R4624:Lilrb4a UTSW 10 51491488 missense probably damaging 1.00
R4923:Lilrb4a UTSW 10 51492043 missense possibly damaging 0.67
R5001:Lilrb4a UTSW 10 51491420 splice site probably null
R5262:Lilrb4a UTSW 10 51493207 critical splice donor site probably null
R6224:Lilrb4a UTSW 10 51491649 missense probably damaging 1.00
R7447:Lilrb4a UTSW 10 51491053 critical splice donor site probably null
Posted On2016-08-02