Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02057:Lilrb4a'

185256

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: 0.131) question?

Stock #

IGL02057

Quality Score

Status

Chromosome

Chromosomal Location

51367052-51372707 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 51368103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 168 (D168N)

Ref Sequence

ENSEMBL: ENSMUSP00000151827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078778] [ENSMUST00000217705] [ENSMUST00000217706] [ENSMUST00000218123] [ENSMUST00000220226] [ENSMUST00000219696] [ENSMUST00000218617] [ENSMUST00000220182]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000078778
AA Change: D168N

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000077833
Gene: ENSMUSG00000112148
AA Change: D168N

Domain	Start	End	E-Value	Type
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: ENSMUST00000105481
AA Change: D168N

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101121
Gene: ENSMUSG00000062593
AA Change: D168N

Domain	Start	End	E-Value	Type
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: D168N

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101122
Gene: ENSMUSG00000062593
AA Change: D168N

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IG_like	28	118	4.91e1	SMART
IG_like	129	219	1.84e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217705
AA Change: D73N

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000217706
AA Change: D168N

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218123
AA Change: D168N

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218217

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219388

Predicted Effect

probably benign
Transcript: ENSMUST00000220226

Predicted Effect

probably benign
Transcript: ENSMUST00000219696
AA Change: D168N

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220166

Predicted Effect

probably benign
Transcript: ENSMUST00000218617

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218413

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219828

Predicted Effect

probably benign
Transcript: ENSMUST00000220182
AA Change: D168N

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218753

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankk1	T	C	9: 49,328,072 (GRCm39)	N369S	probably damaging	Het
Atp13a3	C	T	16: 30,151,182 (GRCm39)	A1043T	probably benign	Het
AY358078	G	A	14: 52,057,762 (GRCm39)	V287I	unknown	Het
Cemip	T	C	7: 83,636,661 (GRCm39)	E324G	probably damaging	Het
Ckap5	T	A	2: 91,431,052 (GRCm39)	D1487E	possibly damaging	Het
Dscam	G	A	16: 96,517,273 (GRCm39)	Q879*	probably null	Het
Eci2	A	G	13: 35,174,759 (GRCm39)	L50P	probably damaging	Het
Erp44	A	T	4: 48,236,964 (GRCm39)	H65Q	probably benign	Het
Fahd1	A	T	17: 25,068,570 (GRCm39)	I169N	probably damaging	Het
Galm	T	C	17: 80,488,996 (GRCm39)	I214T	probably benign	Het
Gipc3	T	A	10: 81,178,968 (GRCm39)	N42Y	probably damaging	Het
H2-Eb2	A	T	17: 34,554,741 (GRCm39)		probably benign	Het
Itgb3	A	T	11: 104,523,174 (GRCm39)	I113F	probably damaging	Het
Lef1	T	G	3: 130,994,051 (GRCm39)	Y342*	probably null	Het
Or51b6b	T	A	7: 103,309,860 (GRCm39)	Y199F	probably damaging	Het
Or5m10	T	A	2: 85,717,275 (GRCm39)	F44I	probably benign	Het
Orc1	T	G	4: 108,445,926 (GRCm39)	S15A	possibly damaging	Het
Pdk2	C	T	11: 94,919,324 (GRCm39)	G317D	probably benign	Het
Rab37	T	C	11: 115,051,543 (GRCm39)	S217P	probably benign	Het
Rere	C	T	4: 150,699,289 (GRCm39)		probably benign	Het
Scn11a	C	T	9: 119,594,536 (GRCm39)	G1286S	probably damaging	Het
Sirt1	A	G	10: 63,160,982 (GRCm39)	S357P	probably damaging	Het
Smpdl3b	T	A	4: 132,461,024 (GRCm39)	E351V	probably benign	Het
Sox6	C	A	7: 115,149,310 (GRCm39)	G355W	probably damaging	Het
Spopfm2	T	A	3: 94,083,662 (GRCm39)	S50C	probably damaging	Het
Srpk2	G	T	5: 23,723,705 (GRCm39)	A502E	probably damaging	Het
Trim67	G	A	8: 125,549,869 (GRCm39)	V500I	probably benign	Het
Ube2v2	A	G	16: 15,394,922 (GRCm39)	V83A	probably benign	Het
Usp43	A	T	11: 67,747,113 (GRCm39)	S865T	probably benign	Het
Vdac1	G	A	11: 52,267,371 (GRCm39)		probably null	Het
Vmn2r69	T	A	7: 85,060,990 (GRCm39)	H198L	possibly damaging	Het
Vmn2r93	T	C	17: 18,546,032 (GRCm39)	C635R	probably damaging	Het

Other mutations in Lilrb4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Lilrb4a	APN	10	51,370,161 (GRCm39)	missense	probably benign	0.42
IGL02386:Lilrb4a	APN	10	51,367,322 (GRCm39)	nonsense	probably null
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

2014-05-07