Mutagenetix > Incidental Mutations

Incidental Mutation 'R6480:Lilra6'

517031

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: 0.072) question?

Stock #

R6480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3908280-3915503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3912933 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 309 (T309I)

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: T309I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042636
Gene: ENSMUSG00000030427
AA Change: T309I

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

SMART Domains

Protein: ENSMUSP00000088188
Gene: ENSMUSG00000030427

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

possibly damaging
Transcript: ENSMUST00000206077
AA Change: T68I

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206851

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl8b	T	A	6: 108,815,049	N90K	possibly damaging	Het
Art3	T	C	5: 92,392,817	F140L	probably damaging	Het
Ascc3	T	A	10: 50,710,953	M967K	probably damaging	Het
Ccne1	G	A	7: 38,106,854		probably benign	Het
Cdc14b	T	C	13: 64,225,650		probably null	Het
Ceacam2	T	A	7: 25,519,989	E282V	probably damaging	Het
Clk4	T	A	11: 51,270,546	C86*	probably null	Het
Cul2	A	C	18: 3,417,561	K115T	possibly damaging	Het
Dhx29	A	T	13: 112,953,788	K800*	probably null	Het
Dlec1	T	C	9: 119,147,690	F1741S	probably benign	Het
Dnah12	A	G	14: 26,872,455	T3455A	probably damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Drd4	A	T	7: 141,294,793	I366F	possibly damaging	Het
Fam169b	T	A	7: 68,353,718	Y273*	probably null	Het
Fbn1	T	A	2: 125,335,418	Y1833F	probably benign	Het
Fsip2	A	G	2: 82,990,086	T5388A	possibly damaging	Het
Gjb6	T	C	14: 57,124,442	I121V	probably benign	Het
Glg1	T	C	8: 111,197,706	T217A	possibly damaging	Het
Igkv5-48	A	G	6: 69,726,826	S32P	probably benign	Het
Itgax	C	A	7: 128,148,599	F1062L	probably benign	Het
Lct	G	A	1: 128,294,320	T1494I	probably damaging	Het
Mical3	T	C	6: 121,034,275	T321A	possibly damaging	Het
Mmp23	T	A	4: 155,652,341	N104I	probably damaging	Het
Muc3	T	C	5: 137,142,390	Y131C		Het
Naip2	A	C	13: 100,162,041	S496A	probably benign	Het
Ndufs2	A	G	1: 171,236,698	S348P	probably damaging	Het
Nepro	T	C	16: 44,727,075	S52P	probably damaging	Het
Nlrp6	A	G	7: 140,927,443	E874G	possibly damaging	Het
Nsmce1	A	G	7: 125,491,418	V9A	probably benign	Het
Olfr13	T	C	6: 43,174,066	F27L	probably benign	Het
Olfr1458	T	A	19: 13,102,474	T277S	probably benign	Het
Olfr357	T	C	2: 36,996,995	F62L	probably benign	Het
Olfr788	A	T	10: 129,472,721	I10F	possibly damaging	Het
Per2	A	T	1: 91,429,382		probably null	Het
Pgbd1	T	C	13: 21,423,476	I183V	probably benign	Het
Pik3c2g	T	C	6: 139,730,469	V113A	probably benign	Het
Pipox	A	G	11: 77,882,648	L259P	probably damaging	Het
Pkd1l3	C	T	8: 109,638,387	Q1124*	probably null	Het
Plcd3	A	G	11: 103,074,931	S492P	possibly damaging	Het
Rcor2	T	G	19: 7,271,046	M142R	probably benign	Het
Rwdd3	T	C	3: 121,156,452	E115G	probably damaging	Het
Slc13a3	T	C	2: 165,408,898	Y475C	probably damaging	Het
Slc14a2	A	T	18: 78,159,082	I611N	possibly damaging	Het
Slc25a24	G	T	3: 109,136,301	M91I	probably damaging	Het
Spg11	T	C	2: 122,092,305	S888G	probably benign	Het
Spta1	A	T	1: 174,187,148		probably null	Het
Stk35	C	A	2: 129,810,687	D369E	possibly damaging	Het
Tanc1	T	C	2: 59,807,642	S889P	probably damaging	Het
Tbc1d10b	T	C	7: 127,198,878	N697S	probably damaging	Het
Tcof1	A	T	18: 60,814,780		probably null	Het
Tg	T	A	15: 66,671,311	Y25N	probably damaging	Het
Thbs1	T	C	2: 118,119,117	C563R	probably damaging	Het
Tlr11	A	G	14: 50,363,055	S833G	possibly damaging	Het
Uggt2	T	A	14: 119,057,564	H550L	probably benign	Het
Utp20	A	G	10: 88,755,186		probably null	Het
Wbp1l	T	A	19: 46,654,319	L253Q	probably damaging	Het
Zfp433	T	A	10: 81,720,244	S161R	possibly damaging	Het
Zfp865	A	G	7: 5,029,783	T256A	probably damaging	Het
Zpr1	A	G	9: 46,274,711	D160G	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
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

PCR Primer
(F):5'- AGAGCCTGGGTTCATAGTGTTC -3'
(R):5'- TCTGTGATCGCCTCCAAGAG -3'

Sequencing Primer
(F):5'- TGTTCATAGATTCCTAGGAGAGAAG -3'
(R):5'- TGATCGCCTCCAAGAGAGCAATG -3'

Posted On

2018-05-21