Mutagenetix > Incidental Mutations

Incidental Mutation 'R6512:Lilra6'

519949

Institutional Source

Beutler Lab

Gene Symbol

Lilra6

Ensembl Gene

ENSMUSG00000030427

Gene Name

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6

Synonyms

Pira3, 7M1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R6512 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3908280-3915503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3914388 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 203 (N203Y)

Ref Sequence

ENSEMBL: ENSMUSP00000042636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038176] [ENSMUST00000090689] [ENSMUST00000206077]

Predicted Effect

probably benign
Transcript: ENSMUST00000038176
AA Change: N203Y

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000042636
Gene: ENSMUSG00000030427
AA Change: N203Y

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
IG_like	40	105	3.11e0	SMART
IG	129	315	4.53e-2	SMART
IG_like	237	302	1.54e-1	SMART
IG_like	328	415	1.79e1	SMART
IG_like	429	517	2.66e1	SMART
IG	529	618	8.59e-3	SMART
low complexity region	637	646	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090689
AA Change: N203Y

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000088188
Gene: ENSMUSG00000030427
AA Change: N203Y

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
IG_like	34	118	7.25e0	SMART
IG_like	129	220	1.62e2	SMART
IG_like	290	377	1.79e1	SMART
IG_like	391	479	2.66e1	SMART
IG	491	580	8.59e-3	SMART
low complexity region	599	608	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131255

Predicted Effect

probably benign
Transcript: ENSMUST00000206077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206851

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	G	17: 48,036,863	S211P	possibly damaging	Het
Abcb11	T	C	2: 69,282,652	T674A	probably benign	Het
Acad11	G	T	9: 104,095,559	E484*	probably null	Het
Ankhd1	A	T	18: 36,591,456	D389V	probably damaging	Het
Asic4	T	A	1: 75,473,043	L439*	probably null	Het
Atp13a2	A	G	4: 141,003,218	T808A	probably damaging	Het
Capn13	C	A	17: 73,382,990	V9L	probably benign	Het
Chst11	A	G	10: 83,191,468	Y243C	probably damaging	Het
Ctdp1	A	T	18: 80,451,263	W308R	probably damaging	Het
Dnttip2	A	G	3: 122,275,523	E129G	possibly damaging	Het
Dock5	A	G	14: 67,824,648	S424P	possibly damaging	Het
Ebf1	C	T	11: 44,992,341	H469Y	probably damaging	Het
Efhc1	A	T	1: 20,960,349	N169Y	probably damaging	Het
Elmo1	T	C	13: 20,373,161	L424P	probably damaging	Het
Ighv1-59	A	G	12: 115,335,383	V16A	probably damaging	Het
Kcnc1	T	G	7: 46,427,397	C208G	probably damaging	Het
Kif13b	A	T	14: 64,744,874		probably null	Het
Mkl1	T	C	15: 81,013,716	T787A	probably benign	Het
Myh8	A	T	11: 67,289,662	K575*	probably null	Het
Nedd1	C	T	10: 92,691,875	A486T	probably benign	Het
Olfr170	A	T	16: 19,606,359	L103H	probably damaging	Het
Phrf1	T	C	7: 141,260,396	I1168T	possibly damaging	Het
Pla2g12a	T	A	3: 129,888,957	H59Q	probably benign	Het
Ralbp1	A	G	17: 65,861,275	V345A	probably damaging	Het
Ryr3	C	T	2: 112,867,378	V894M	possibly damaging	Het
Sec24b	T	A	3: 130,041,297	Y84F	probably damaging	Het
Slc22a26	T	C	19: 7,802,500		probably benign	Het
Smc1b	C	T	15: 85,092,031	R825Q	probably benign	Het
Spats1	C	T	17: 45,452,673		probably null	Het
Tbk1	T	A	10: 121,578,621	N63Y	probably damaging	Het
Tbl1xr1	C	T	3: 22,140,534		probably benign	Het
Top2b	T	A	14: 16,409,854	D840E	possibly damaging	Het
Trpc3	T	A	3: 36,662,758	Y377F	possibly damaging	Het
Uba6	C	T	5: 86,124,403	R778K	probably benign	Het
Vmn2r101	A	T	17: 19,588,884	I92F	probably damaging	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het
Vmn2r70	G	T	7: 85,566,097	F76L	probably benign	Het
Vwa3b	A	G	1: 37,063,642		probably benign	Het
Zfp407	T	A	18: 84,560,349	T880S	probably damaging	Het
Zfp64	C	A	2: 168,894,077	G560V	probably benign	Het

Other mutations in Lilra6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Lilra6	APN	7	3911554	missense	probably benign	0.04
IGL00569:Lilra6	APN	7	3914589	missense	probably damaging	0.99
IGL00899:Lilra6	APN	7	3913057	missense	probably damaging	1.00
IGL00955:Lilra6	APN	7	3911404	splice site	probably benign
IGL01585:Lilra6	APN	7	3914499	missense	probably benign	0.01
IGL02195:Lilra6	APN	7	3914550	missense	probably benign	0.00
IGL02586:Lilra6	APN	7	3908820	missense	probably benign	0.36
IGL02719:Lilra6	APN	7	3912992	missense	possibly damaging	0.96
IGL03166:Lilra6	APN	7	3912627	missense	possibly damaging	0.69
IGL03329:Lilra6	APN	7	3914648	splice site	probably benign
R0233:Lilra6	UTSW	7	3914936	missense	possibly damaging	0.69
R0233:Lilra6	UTSW	7	3914936	missense	possibly damaging	0.69
R0423:Lilra6	UTSW	7	3914775	splice site	probably benign
R0483:Lilra6	UTSW	7	3913139	missense	probably benign	0.02
R0511:Lilra6	UTSW	7	3912785	missense	possibly damaging	0.77
R1472:Lilra6	UTSW	7	3912719	missense	probably damaging	1.00
R1560:Lilra6	UTSW	7	3911408	critical splice donor site	probably null
R1584:Lilra6	UTSW	7	3912662	missense	probably damaging	1.00
R1781:Lilra6	UTSW	7	3915067	missense	probably benign	0.28
R2411:Lilra6	UTSW	7	3911454	missense	probably damaging	1.00
R2420:Lilra6	UTSW	7	3914858	missense	probably damaging	1.00
R4021:Lilra6	UTSW	7	3911418	missense	probably benign	0.20
R4074:Lilra6	UTSW	7	3914890	missense	probably benign	0.23
R4284:Lilra6	UTSW	7	3908804	missense	possibly damaging	0.76
R4508:Lilra6	UTSW	7	3912029	nonsense	probably null
R4894:Lilra6	UTSW	7	3912531	missense	probably benign	0.01
R4977:Lilra6	UTSW	7	3914383	missense	probably benign	0.01
R5048:Lilra6	UTSW	7	3915441	critical splice donor site	probably null
R5164:Lilra6	UTSW	7	3914881	missense	probably damaging	1.00
R5185:Lilra6	UTSW	7	3914636	missense	probably benign	0.00
R5527:Lilra6	UTSW	7	3914587	start gained	probably benign
R6281:Lilra6	UTSW	7	3911973	missense	probably damaging	1.00
R6480:Lilra6	UTSW	7	3912933	missense	probably damaging	1.00
R6565:Lilra6	UTSW	7	3915020	missense	probably benign
R7017:Lilra6	UTSW	7	3908708	missense	possibly damaging	0.93
R7095:Lilra6	UTSW	7	3913197	missense	probably damaging	1.00
R7747:Lilra6	UTSW	7	3912996	missense	probably benign	0.16
R8056:Lilra6	UTSW	7	3912552	missense	probably damaging	1.00
Z1176:Lilra6	UTSW	7	3915074	critical splice acceptor site	probably null
Z1177:Lilra6	UTSW	7	3912581	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- TAATGGGCACTCTGGGCTTG -3'
(R):5'- TCCAGTGTGAGTCTTCGCAGAG -3'

Sequencing Primer
(F):5'- ACTCTGGGCTTGGCTGTCAC -3'
(R):5'- TGAGTCTTCGCAGAGCTATCACAG -3'

Posted On

2018-06-06