Mutagenetix > Incidental Mutations

Incidental Mutation 'R5164:Lilra6'

395595

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

042745-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5164 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3908280-3915503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3914881 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 88 (V88E)

Ref Sequence

ENSEMBL: ENSMUSP00000042636 (fasta)

Gene Model

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

AlphaFold

A0A0B4J1F3

Predicted Effect

probably damaging
Transcript: ENSMUST00000038176
AA Change: V88E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042636
Gene: ENSMUSG00000030427
AA Change: V88E

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

possibly damaging
Transcript: ENSMUST00000090689
AA Change: V88E

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088188
Gene: ENSMUSG00000030427
AA Change: V88E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,435,674	H4637Q	probably benign	Het
Akap6	A	G	12: 53,142,466	H2221R	probably benign	Het
Arsj	A	T	3: 126,438,159	M185L	probably benign	Het
Ccdc177	T	C	12: 80,758,562	T313A	unknown	Het
Cdkal1	A	T	13: 29,625,719	L214H	probably damaging	Het
Cfap44	T	A	16: 44,481,389	I1830N	probably damaging	Het
Cfap65	T	C	1: 74,926,516	K445R	probably damaging	Het
Chrnb3	T	A	8: 27,394,132	I299N	probably damaging	Het
Cse1l	C	A	2: 166,944,428	D826E	probably benign	Het
Cwf19l2	T	C	9: 3,475,511	V816A	probably damaging	Het
Dnah5	A	T	15: 28,408,292	E3474D	probably benign	Het
Dock5	A	T	14: 67,817,661	Y585*	probably null	Het
Ebf2	T	C	14: 67,390,521	S322P	possibly damaging	Het
Epha8	T	C	4: 136,945,672	E267G	possibly damaging	Het
Fam126b	T	C	1: 58,535,438	T315A	probably benign	Het
Fkbp5	A	G	17: 28,437,990		probably null	Het
Gbp4	T	A	5: 105,136,877	K49*	probably null	Het
Gm13212	T	C	4: 145,622,205	Y71H	probably damaging	Het
Gramd4	A	T	15: 86,100,831	T98S	probably benign	Het
H2-Ke6	A	G	17: 34,026,978		probably benign	Het
Hectd1	C	A	12: 51,827,489	M1I	probably null	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Keg1	A	G	19: 12,714,680		probably benign	Het
Mast1	A	G	8: 84,913,518		probably benign	Het
Mdn1	A	G	4: 32,759,011		probably null	Het
Nrd1	C	T	4: 109,039,717	T511I	probably damaging	Het
Olfr1058	T	C	2: 86,385,471	T316A	probably benign	Het
Olfr1204	T	A	2: 88,852,570	L207I	probably benign	Het
Olfr478	G	A	7: 108,032,280	T21I	possibly damaging	Het
Pms1	A	G	1: 53,207,640	V301A	probably damaging	Het
Pnisr	A	T	4: 21,859,237	Q144L	possibly damaging	Het
Pp2d1	G	T	17: 53,508,070	T542K	probably benign	Het
Ppargc1b	A	T	18: 61,302,644	C922S	probably damaging	Het
Ptprd	T	C	4: 76,100,758		probably null	Het
Runx3	T	C	4: 135,121,130	S9P	possibly damaging	Het
Serpina1b	A	G	12: 103,732,087	S168P	probably benign	Het
Slc14a2	G	A	18: 78,157,272	A722V	probably damaging	Het
Slc23a2	T	A	2: 132,075,450		probably benign	Het
Slc47a1	A	G	11: 61,353,060		probably null	Het
Tcf20	A	G	15: 82,856,603	S216P	probably damaging	Het
Tpst1	T	A	5: 130,102,001	I104N	probably damaging	Het
Ttc25	G	A	11: 100,571,520	W506*	probably null	Het
Ufm1	A	C	3: 53,857,927		probably benign	Het
Unkl	A	G	17: 25,213,109		probably null	Het
Usf3	T	C	16: 44,218,180	S1008P	probably damaging	Het
Ythdf3	T	C	3: 16,183,513	V6A	possibly damaging	Het
Zc3h3	A	T	15: 75,777,026	S752R	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
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
R6512:Lilra6	UTSW	7	3914388	missense	probably benign	0.06
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
R8280:Lilra6	UTSW	7	3913047	missense	probably benign	0.01
R9197:Lilra6	UTSW	7	3912717	missense	possibly damaging	0.94
R9354:Lilra6	UTSW	7	3911629	missense	probably damaging	1.00
R9379:Lilra6	UTSW	7	3913167	missense	probably damaging	1.00
R9406:Lilra6	UTSW	7	3914854
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'- TCTGAGGTTCCCACAGTGAG -3'
(R):5'- TGAGTCCTAGTTGCTCTGTTAC -3'

Sequencing Primer
(F):5'- CACAGTGAGGGTGGGCATTC -3'
(R):5'- TAAGCCTATCCTCAGAGTACAGC -3'

Posted On

2016-06-21