Incidental Mutation 'IGL02386:Lilrb4a'
ID 291547
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lilrb4a
Ensembl Gene ENSMUSG00000112148
Gene Name leukocyte immunoglobulin-like receptor, subfamily B, member 4A
Synonyms Gp49b, CD85K, ILT3, Lilrb4, HM18
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # IGL02386
Quality Score
Status
Chromosome 10
Chromosomal Location 51367052-51372707 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 51367322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 22 (Q22*)
Ref Sequence ENSEMBL: ENSMUSP00000151694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078778] [ENSMUST00000102894] [ENSMUST00000217705] [ENSMUST00000217706] [ENSMUST00000218123] [ENSMUST00000218617] [ENSMUST00000218704] [ENSMUST00000219696] [ENSMUST00000220182] [ENSMUST00000220226] [ENSMUST00000219661] [ENSMUST00000219960]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000078778
AA Change: Q22*
SMART Domains Protein: ENSMUSP00000077833
Gene: ENSMUSG00000112148
AA Change: Q22*

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 null
Transcript: ENSMUST00000105481
AA Change: Q22*
SMART Domains Protein: ENSMUSP00000101121
Gene: ENSMUSG00000062593
AA Change: Q22*

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 null
Transcript: ENSMUST00000105482
AA Change: Q22*
SMART Domains Protein: ENSMUSP00000101122
Gene: ENSMUSG00000062593
AA Change: Q22*

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 null
Transcript: ENSMUST00000217705
AA Change: Q22*
Predicted Effect probably null
Transcript: ENSMUST00000217706
AA Change: Q22*
Predicted Effect probably null
Transcript: ENSMUST00000218123
AA Change: Q22*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219175
Predicted Effect silent
Transcript: ENSMUST00000218617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218217
Predicted Effect probably benign
Transcript: ENSMUST00000218704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218649
Predicted Effect probably null
Transcript: ENSMUST00000219696
AA Change: Q22*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220166
Predicted Effect probably null
Transcript: ENSMUST00000220182
AA Change: Q22*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219828
Predicted Effect probably benign
Transcript: ENSMUST00000220226
Predicted Effect probably benign
Transcript: ENSMUST00000219661
Predicted Effect probably benign
Transcript: ENSMUST00000219960
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555F03Rik G A 8: 49,953,472 (GRCm39) noncoding transcript Het
Abhd17b T C 19: 21,658,263 (GRCm39) Y167H possibly damaging Het
Ablim1 T C 19: 57,123,086 (GRCm39) D167G probably damaging Het
Bpnt1 G T 1: 185,070,372 (GRCm39) K21N probably damaging Het
Cables2 A G 2: 179,903,431 (GRCm39) V251A probably benign Het
Cyp2b13 T C 7: 25,785,438 (GRCm39) L269P probably damaging Het
Dhodh A G 8: 110,321,396 (GRCm39) I330T probably damaging Het
Dnah5 T A 15: 28,340,527 (GRCm39) D2311E probably damaging Het
Dph1 T C 11: 75,074,428 (GRCm39) D128G probably benign Het
Dsg1c T A 18: 20,410,056 (GRCm39) I508N probably benign Het
Eftud2 T C 11: 102,742,580 (GRCm39) probably null Het
Fstl4 T A 11: 52,664,698 (GRCm39) H9Q probably benign Het
Glra3 A T 8: 56,542,063 (GRCm39) M269L probably benign Het
Gpatch8 C A 11: 102,398,983 (GRCm39) R83L unknown Het
Gss A G 2: 155,415,090 (GRCm39) V205A probably benign Het
Ifi30 A G 8: 71,217,405 (GRCm39) probably benign Het
Itch T A 2: 155,044,181 (GRCm39) Y495* probably null Het
Mest T C 6: 30,744,913 (GRCm39) F201S possibly damaging Het
Myh8 T A 11: 67,185,266 (GRCm39) I839N probably damaging Het
Myo7a C T 7: 97,724,319 (GRCm39) G1122E probably damaging Het
Ntan1 T A 16: 13,653,063 (GRCm39) M273K probably benign Het
Numa1 A G 7: 101,656,739 (GRCm39) K1548R probably benign Het
Obsl1 A G 1: 75,469,161 (GRCm39) V1260A probably damaging Het
Or4b12 T A 2: 90,096,295 (GRCm39) I160F probably damaging Het
Or4c10 T C 2: 89,760,888 (GRCm39) V245A probably damaging Het
Pde10a A G 17: 9,172,636 (GRCm39) S669G possibly damaging Het
Ppargc1b T C 18: 61,456,222 (GRCm39) D79G probably damaging Het
Rnf103 A G 6: 71,486,202 (GRCm39) T278A probably benign Het
Slc22a4 C A 11: 53,879,598 (GRCm39) probably benign Het
Snx25 A T 8: 46,494,386 (GRCm39) M833K possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Susd2 A T 10: 75,475,929 (GRCm39) Y357N probably damaging Het
Syne4 C A 7: 30,015,659 (GRCm39) S91Y possibly damaging Het
Tgfbrap1 C A 1: 43,114,981 (GRCm39) G40C probably damaging Het
Tial1 A G 7: 128,050,069 (GRCm39) S94P probably damaging Het
Tle3 A G 9: 61,301,941 (GRCm39) T117A possibly damaging Het
Usp48 A C 4: 137,331,834 (GRCm39) R73S possibly damaging Het
Utrn G T 10: 12,297,352 (GRCm39) D685E possibly damaging Het
Other mutations in Lilrb4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Lilrb4a APN 10 51,370,161 (GRCm39) missense probably benign 0.42
IGL02057:Lilrb4a APN 10 51,368,103 (GRCm39) missense possibly damaging 0.81
IGL02999:Lilrb4a APN 10 51,370,239 (GRCm39) missense probably damaging 1.00
IGL03292:Lilrb4a APN 10 51,370,942 (GRCm39) splice site probably null
IGL03382:Lilrb4a APN 10 51,367,616 (GRCm39) missense probably benign 0.10
R0276:Lilrb4a UTSW 10 51,367,677 (GRCm39) missense probably benign 0.01
R0470:Lilrb4a UTSW 10 51,370,923 (GRCm39) missense possibly damaging 0.87
R1313:Lilrb4a UTSW 10 51,356,832 (GRCm39) missense probably benign 0.25
R1459:Lilrb4a UTSW 10 51,367,683 (GRCm39) missense probably benign 0.44
R1675:Lilrb4a UTSW 10 51,372,281 (GRCm39) missense probably benign 0.37
R1819:Lilrb4a UTSW 10 51,372,124 (GRCm39) missense probably damaging 1.00
R1914:Lilrb4a UTSW 10 51,368,045 (GRCm39) missense probably benign 0.04
R2265:Lilrb4a UTSW 10 51,367,633 (GRCm39) nonsense probably null
R2338:Lilrb4a UTSW 10 51,367,796 (GRCm39) missense probably benign 0.13
R2884:Lilrb4a UTSW 10 51,367,709 (GRCm39) missense probably benign 0.01
R2886:Lilrb4a UTSW 10 51,367,709 (GRCm39) missense probably benign 0.01
R4322:Lilrb4a UTSW 10 51,367,707 (GRCm39) missense probably damaging 1.00
R4624:Lilrb4a UTSW 10 51,367,584 (GRCm39) missense probably damaging 1.00
R4923:Lilrb4a UTSW 10 51,368,139 (GRCm39) missense possibly damaging 0.67
R5001:Lilrb4a UTSW 10 51,367,516 (GRCm39) splice site probably null
R5262:Lilrb4a UTSW 10 51,369,303 (GRCm39) critical splice donor site probably null
R6224:Lilrb4a UTSW 10 51,367,745 (GRCm39) missense probably damaging 1.00
R7447:Lilrb4a UTSW 10 51,367,149 (GRCm39) critical splice donor site probably null
R7763:Lilrb4a UTSW 10 51,367,142 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16