Mutagenetix > Incidental Mutations

Incidental Mutation 'R0233:Lilra6'

65935

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

038474-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0233 (G1)

Quality Score

129

Status

Not validated

Chromosome

Chromosomal Location

3908280-3915503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3914936 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 70 (V70I)

Ref Sequence

ENSEMBL: ENSMUSP00000042636 (fasta)

Gene Model

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

AlphaFold

A0A0B4J1F3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038176
AA Change: V70I

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042636
Gene: ENSMUSG00000030427
AA Change: V70I

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: V70I

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000088188
Gene: ENSMUSG00000030427
AA Change: V70I

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

0.1795

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.8%
20x: 81.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,663,373	S212P	probably benign	Het
4932438A13Rik	T	A	3: 36,948,563	C1552*	probably null	Het
A730018C14Rik	A	C	12: 112,415,430		noncoding transcript	Het
Acsf3	A	G	8: 122,780,292	Y108C	probably damaging	Het
Adad1	T	A	3: 37,084,948	I389N	possibly damaging	Het
Ankrd27	T	C	7: 35,601,560	L95P	probably damaging	Het
Ano5	T	C	7: 51,535,470	F46S	possibly damaging	Het
Ap2a1	T	C	7: 44,915,973	N114S	probably damaging	Het
Arap1	C	T	7: 101,400,241	S970L	possibly damaging	Het
Atad3a	A	T	4: 155,746,067	S525T	probably damaging	Het
Cacna2d2	A	T	9: 107,514,670	I463F	probably damaging	Het
Casp6	T	A	3: 129,905,975	N34K	probably damaging	Het
Ccdc175	A	T	12: 72,105,876	F752I	probably benign	Het
Cdhr4	A	G	9: 107,996,934	I76V	probably benign	Het
Cox11	C	T	11: 90,644,500	T259I	probably damaging	Het
Cuzd1	C	A	7: 131,311,816	K357N	possibly damaging	Het
Dnase2b	T	A	3: 146,582,550	K263N	probably benign	Het
Dync1h1	T	A	12: 110,640,980	D2668E	probably benign	Het
Fam124b	T	C	1: 80,212,986	S227G	probably damaging	Het
Fgf21	T	A	7: 45,615,297	M4L	probably benign	Het
Flg2	T	A	3: 93,201,797	C377*	probably null	Het
Gli2	A	T	1: 118,835,925	S1499T	probably damaging	Het
Gm13078	A	T	4: 143,726,063	E21D	possibly damaging	Het
Gm43638	T	C	5: 87,475,001	N36S	probably damaging	Het
Gm8909	A	G	17: 36,167,469	Y224H	probably benign	Het
Gpx5	T	A	13: 21,287,403	D210V	probably damaging	Het
Hoxb5	T	A	11: 96,305,027	S234T	probably benign	Het
Irf9	C	A	14: 55,606,094	N140K	probably benign	Het
Isg20	C	T	7: 78,914,495	T50M	probably damaging	Het
Isg20	C	A	7: 78,916,586	D94E	probably damaging	Het
Izumo1	T	C	7: 45,624,168	L115P	probably damaging	Het
Krt73	A	T	15: 101,802,016	N94K	probably benign	Het
Lgmn	G	T	12: 102,399,989	D247E	probably damaging	Het
Lrig3	G	A	10: 126,013,526		probably null	Het
Lrrc4	T	C	6: 28,829,735	H627R	probably benign	Het
Nat9	C	A	11: 115,183,408		probably null	Het
Nutm2	A	G	13: 50,467,405	D2G	probably benign	Het
Olfr1151	A	G	2: 87,857,752	I192M	probably benign	Het
Olfr1404	A	T	1: 173,216,301	I217F	probably benign	Het
Olfr191	A	T	16: 59,085,675	D269E	probably benign	Het
Pdzd8	A	T	19: 59,300,379	M863K	probably damaging	Het
Phlda3	T	C	1: 135,766,821	S125P	probably damaging	Het
Pkd1l3	A	T	8: 109,650,780	R217*	probably null	Het
Plekhg5	T	C	4: 152,112,219	C695R	probably damaging	Het
Pyroxd1	A	G	6: 142,354,630	E162G	possibly damaging	Het
R3hcc1l	G	A	19: 42,582,921		probably null	Het
Rgs12	T	A	5: 35,030,498	S500T	probably damaging	Het
Ripor3	T	C	2: 167,992,598	D299G	probably damaging	Het
Robo4	T	C	9: 37,402,681	L76P	probably damaging	Het
Sbno1	T	C	5: 124,376,226	Y1302C	probably damaging	Het
Sec63	A	G	10: 42,823,908	I655V	possibly damaging	Het
Serpina11	T	A	12: 103,980,470	M389L	probably benign	Het
Sfswap	C	A	5: 129,554,543	P745Q	possibly damaging	Het
Slitrk3	C	T	3: 73,048,577	S954N	probably benign	Het
Sorbs2	A	G	8: 45,769,829	T190A	probably damaging	Het
Sos2	A	T	12: 69,617,330	I460N	probably benign	Het
Spink7	T	A	18: 62,594,352	I34L	probably benign	Het
Srbd1	A	G	17: 86,057,745	S628P	probably damaging	Het
Srm	G	A	4: 148,593,372	G156S	probably damaging	Het
Tmc4	T	A	7: 3,666,867	Y6F	probably benign	Het
Tmcc2	A	G	1: 132,360,651	F433L	probably damaging	Het
Tnxb	T	C	17: 34,699,033	F2307L	probably benign	Het
Tsr3	A	G	17: 25,242,510	E274G	probably benign	Het
Ttn	T	C	2: 76,895,144		probably benign	Het
Tub	T	C	7: 109,029,341	V352A	possibly damaging	Het
Tubb2a	A	G	13: 34,075,342	I155T	possibly damaging	Het
Usp13	T	A	3: 32,915,664		probably null	Het
Vmn1r52	T	G	6: 90,179,611	L120R	possibly damaging	Het
Vmn2r11	A	T	5: 109,054,102	S179T	probably benign	Het
Vwf	A	T	6: 125,686,510	R2805W	possibly damaging	Het
Zfp286	T	C	11: 62,780,393	T285A	possibly damaging	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
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
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	missense	probably benign
Z1176:Lilra6	UTSW	7	3915074	critical splice acceptor site	probably null
Z1177:Lilra6	UTSW	7	3912581	missense	possibly damaging	0.48

Predicted Primers

Posted On

2013-08-19