Mutagenetix > Incidental Mutation

Incidental Mutation 'R1313:Lilrb4a'

175060

Institutional Source

Beutler Lab

Gene Symbol

Lilrb4a

Ensembl Gene

ENSMUSG00000112148

Gene Name

leukocyte immunoglobulin-like receptor, subfamily B, member 4A

Synonyms

Gp49b, CD85K, ILT3, Lilrb4, HM18

MMRRC Submission

039379-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R1313 (G1)

Quality Score

150

Status

Not validated

Chromosome

Chromosomal Location

51367052-51372707 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51356832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 6 (T6I)

Ref Sequence

ENSEMBL: ENSMUSP00000099958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102894] [ENSMUST00000217706] [ENSMUST00000218123] [ENSMUST00000219696] [ENSMUST00000218704] [ENSMUST00000219960] [ENSMUST00000219661]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000102894
AA Change: T6I

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099958
Gene: ENSMUSG00000112023
AA Change: T6I

Domain	Start	End	E-Value	Type
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: T6I

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

SMART Domains

Protein: ENSMUSP00000101121
Gene: ENSMUSG00000062593
AA Change: T6I

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: T6I

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

SMART Domains

Protein: ENSMUSP00000101122
Gene: ENSMUSG00000062593
AA Change: T6I

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

noncoding transcript
Transcript: ENSMUST00000139982

Predicted Effect

probably benign
Transcript: ENSMUST00000217706
AA Change: T6I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218123
AA Change: T6I

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218179

Predicted Effect

probably benign
Transcript: ENSMUST00000219696
AA Change: T6I

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

Predicted Effect

unknown
Transcript: ENSMUST00000218704
AA Change: T6I

Predicted Effect

unknown
Transcript: ENSMUST00000219960
AA Change: T6I

Predicted Effect

probably benign
Transcript: ENSMUST00000219661
AA Change: T6I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219598

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219053

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.7%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankle1	A	G	8: 71,859,857 (GRCm39)	E145G	possibly damaging	Het
Bltp2	A	G	11: 78,156,498 (GRCm39)	T226A	probably benign	Het
C1qtnf12	G	A	4: 156,050,331 (GRCm39)	E223K	probably damaging	Het
Cep250	C	T	2: 155,813,999 (GRCm39)	A589V	probably damaging	Het
Clhc1	A	G	11: 29,521,678 (GRCm39)	I404V	probably benign	Het
Ddi1	T	C	9: 6,265,769 (GRCm39)	E200G	probably damaging	Het
Dmxl1	T	C	18: 50,011,550 (GRCm39)	S1236P	probably damaging	Het
Dpyd	G	T	3: 118,692,810 (GRCm39)		probably benign	Het
Ercc6	C	T	14: 32,274,677 (GRCm39)		probably benign	Het
Gatb	A	G	3: 85,561,133 (GRCm39)	I550V	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hnrnpul1	G	T	7: 25,422,341 (GRCm39)		probably benign	Het
Ints1	T	C	5: 139,748,661 (GRCm39)	T1049A	probably benign	Het
Mocs1	A	T	17: 49,761,297 (GRCm39)	T464S	probably benign	Het
Myo15b	T	C	11: 115,775,955 (GRCm39)	S816P	probably damaging	Het
Ogfr	T	C	2: 180,236,423 (GRCm39)	L336P	probably benign	Het
Or5p53	A	T	7: 107,532,975 (GRCm39)	M83L	probably benign	Het
Psapl1	C	A	5: 36,362,610 (GRCm39)	Q401K	probably benign	Het
Rps26-ps1	T	A	8: 108,166,089 (GRCm39)		probably benign	Het
Sh3rf3	C	A	10: 58,907,821 (GRCm39)	Q450K	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stat1	C	T	1: 52,195,165 (GRCm39)	T720I	probably damaging	Het
Vav1	G	A	17: 57,616,498 (GRCm39)		probably benign	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
IGL02057:Lilrb4a	APN	10	51,368,103 (GRCm39)	missense	possibly damaging	0.81
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
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

Predicted Primers

PCR Primer
(F):5'- AGTGTTTACGCAGTCATCTGCTCTTAG -3'
(R):5'- GGTGTCCTGTGAAGAAATCAAAAGCCC -3'

Sequencing Primer
(F):5'- CTTAGGAAATTACAGAGGTTTCCC -3'
(R):5'- AACCTGGCTGTCGAATAGGT -3'

Posted On

2014-04-24