Incidental Mutation 'IGL03396:Lilr4b'
ID421244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lilr4b
Ensembl Gene ENSMUSG00000112023
Gene Nameleukocyte immunoglobulin-like receptor, subfamily B, member 4B
SynonymsGp49a, gp49
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.191) question?
Stock #IGL03396
Quality Score
Status
Chromosome10
Chromosomal Location51480632-51486703 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 51481157 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 30 (I30V)
Ref Sequence ENSEMBL: ENSMUSP00000099958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102894] [ENSMUST00000217706] [ENSMUST00000218123] [ENSMUST00000218704] [ENSMUST00000219661] [ENSMUST00000219696] [ENSMUST00000219960]
Predicted Effect possibly damaging
Transcript: ENSMUST00000102894
AA Change: I30V

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099958
Gene: ENSMUSG00000112023
AA Change: I30V

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 noncoding transcript
Transcript: ENSMUST00000139982
Predicted Effect probably benign
Transcript: ENSMUST00000217706
Predicted Effect probably benign
Transcript: ENSMUST00000218123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218649
Predicted Effect probably benign
Transcript: ENSMUST00000218704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219053
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219598
Predicted Effect probably benign
Transcript: ENSMUST00000219661
Predicted Effect probably benign
Transcript: ENSMUST00000219696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219717
Predicted Effect silent
Transcript: ENSMUST00000219960
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl G A 11: 70,011,413 R457* probably null Het
Arl5b C A 2: 15,075,104 T153K probably damaging Het
Arsb A T 13: 93,939,317 Y436F probably benign Het
Azgp1 C T 5: 137,985,183 P40L possibly damaging Het
B020004C17Rik A G 14: 57,016,536 T39A possibly damaging Het
Cacna2d3 G A 14: 29,720,877 Q67* probably null Het
Cdcp2 C A 4: 107,107,172 Y406* probably null Het
Cep89 T A 7: 35,429,178 D585E probably benign Het
Cfap65 A G 1: 74,904,642 F1570S probably damaging Het
Cnfn A G 7: 25,368,358 probably benign Het
Fgd6 G A 10: 94,044,456 V391I probably benign Het
Fra10ac1 C T 19: 38,201,546 probably null Het
Gjc1 T C 11: 102,800,527 K217E probably benign Het
Il20rb T C 9: 100,459,198 E285G probably damaging Het
Ints2 T C 11: 86,213,062 T1086A probably damaging Het
Itih4 A T 14: 30,887,949 I79F probably damaging Het
Jmjd6 A T 11: 116,841,251 L208H probably damaging Het
Limch1 A G 5: 66,953,673 N81S probably damaging Het
Mettl21e A T 1: 44,206,599 N162K possibly damaging Het
Ninl A G 2: 150,966,212 S299P possibly damaging Het
Obscn A G 11: 59,073,578 L3046P probably benign Het
Olfr1450 T A 19: 12,953,820 V77E probably damaging Het
Olfr342 C A 2: 36,527,680 S89R probably benign Het
Olfr780 A G 10: 129,322,047 I141M probably benign Het
Pnpla8 G A 12: 44,283,526 R287H probably benign Het
Pot1a A C 6: 25,745,914 I596R possibly damaging Het
Prkaa1 A G 15: 5,176,650 D329G probably damaging Het
Ptprr T G 10: 116,188,330 V182G probably damaging Het
Rrp1b T A 17: 32,057,263 probably benign Het
Sec24a A G 11: 51,708,967 V837A probably benign Het
Slc17a6 A G 7: 51,669,092 Y494C probably damaging Het
Slc38a10 A T 11: 120,128,475 I360N probably damaging Het
Snrpb2 T C 2: 143,071,457 F194L possibly damaging Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Trpv1 A G 11: 73,253,056 N238S probably benign Het
Usp20 T C 2: 31,011,717 V498A probably benign Het
Vmn2r23 T C 6: 123,729,626 S472P probably damaging Het
Vmn2r98 A T 17: 19,069,845 T548S possibly damaging Het
Zfp429 A T 13: 67,396,040 probably benign Het
Other mutations in Lilr4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Lilr4b APN 10 51481251 missense probably benign 0.00
IGL02457:Lilr4b APN 10 51481238 missense probably benign 0.04
IGL03221:Lilr4b APN 10 51481428 splice site probably benign
R0145:Lilr4b UTSW 10 51484518 missense probably benign 0.00
R0336:Lilr4b UTSW 10 51481293 missense probably benign 0.28
R1313:Lilr4b UTSW 10 51480736 missense probably benign 0.25
R1543:Lilr4b UTSW 10 51481421 missense probably damaging 0.98
R1984:Lilr4b UTSW 10 51481735 missense possibly damaging 0.68
R1985:Lilr4b UTSW 10 51481735 missense possibly damaging 0.68
R2243:Lilr4b UTSW 10 51481608 missense possibly damaging 0.88
R4094:Lilr4b UTSW 10 51481410 missense probably damaging 0.99
R4887:Lilr4b UTSW 10 51484520 missense possibly damaging 0.81
R5588:Lilr4b UTSW 10 51481326 missense probably benign
R6404:Lilr4b UTSW 10 51485729 missense probably damaging 0.99
Posted On2016-08-02