Mutagenetix > Incidental Mutations

Incidental Mutation 'R6281:Lilra6'

507957

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 #

R6281 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3908280-3915503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3911973 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 474 (L474P)

Ref Sequence

ENSEMBL: ENSMUSP00000088188 (fasta)

Gene Model

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

AlphaFold

A0A0B4J1F3

Predicted Effect

probably damaging
Transcript: ENSMUST00000038176
AA Change: L512P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042636
Gene: ENSMUSG00000030427
AA Change: L512P

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 damaging
Transcript: ENSMUST00000090689
AA Change: L474P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088188
Gene: ENSMUSG00000030427
AA Change: L474P

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

0.6446

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	C	A	8: 121,531,881	C166F	probably damaging	Het
Aida	C	T	1: 183,322,290	A237V	probably damaging	Het
Ankib1	T	C	5: 3,701,965	T692A	possibly damaging	Het
As3mt	T	C	19: 46,724,923	V303A	possibly damaging	Het
Bhlhe40	T	A	6: 108,664,462		probably null	Het
Bhmt2	G	A	13: 93,663,160	P256L	probably damaging	Het
Bpifb1	T	C	2: 154,206,465	I140T	probably damaging	Het
Cat	A	T	2: 103,471,769	H194Q	probably damaging	Het
Cbfa2t3	C	A	8: 122,633,409	R466L	probably damaging	Het
Fancm	T	C	12: 65,088,270	V279A	probably damaging	Het
Gabra2	T	C	5: 71,034,762	T75A	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm3512	T	A	14: 7,159,254	D7V	possibly damaging	Het
Gpr15	A	G	16: 58,718,594	F44S	probably damaging	Het
Ighv1-72	C	A	12: 115,758,403	C5F	probably benign	Het
Mboat2	T	C	12: 24,957,679	V297A	probably benign	Het
Muc2	C	G	7: 141,752,403	C276W	probably damaging	Het
Ncor1	T	C	11: 62,373,545	S141G	possibly damaging	Het
Olfr1283	T	C	2: 111,369,549	*306R	probably null	Het
Olfr508	T	G	7: 108,630,402	S137A	probably benign	Het
Pax5	T	G	4: 44,691,955	E97A	probably benign	Het
Pcdhga11	A	T	18: 37,757,373	D478V	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Phf21b	G	T	15: 84,854,745	D38E	probably benign	Het
Ptcd1	T	C	5: 145,165,071	K146R	probably benign	Het
Rad23a	A	T	8: 84,838,110	M166K	probably damaging	Het
Rfc4	A	T	16: 23,118,066		probably null	Het
Slc17a3	T	A	13: 23,856,799	I336N	probably benign	Het
Slc2a12	T	A	10: 22,665,320	M358K	probably damaging	Het
Stk31	T	G	6: 49,469,180	M939R	possibly damaging	Het
Tecrl	T	A	5: 83,294,606	T167S	probably damaging	Het
Tfap2d	G	C	1: 19,104,478	G52R	probably benign	Het
Ttn	C	T	2: 76,941,828	V2577M	probably damaging	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vezt	G	A	10: 93,973,946	R578C	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vwa3b	T	A	1: 37,123,982	L562Q	probably damaging	Het
Zfyve27	T	A	19: 42,182,755	N127K	probably damaging	Het
Znfx1	A	G	2: 167,055,885	F373S	probably damaging	Het
Zswim8	G	A	14: 20,714,640	V693I	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
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

PCR Primer
(F):5'- CTGAGCTGGAATCACACATGAC -3'
(R):5'- ATTTGCTCTGCACAAGGTGGG -3'

Sequencing Primer
(F):5'- AGAACCTGGGCCTCTGTCTC -3'
(R):5'- GGGGAGCTGACATCATGC -3'

Posted On

2018-03-15