Mutagenetix > Incidental Mutations

Incidental Mutation 'R2411:Lilra6'

249985

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

040376-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2411 (G1)

Quality Score

181

Status

Validated

Chromosome

Chromosomal Location

3908280-3915503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3911454 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 566 (Y566C)

Ref Sequence

ENSEMBL: ENSMUSP00000088188 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000038176
AA Change: Y604C

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

SMART Domains

Protein: ENSMUSP00000042636
Gene: ENSMUSG00000030427
AA Change: Y604C

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: Y566C

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

SMART Domains

Protein: ENSMUSP00000088188
Gene: ENSMUSG00000030427
AA Change: Y566C

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 damaging
Transcript: ENSMUST00000206077
AA Change: Y264C

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206851

Meta Mutation Damage Score

0.3459

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 93.9%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
4933402D24Rik	A	G	1: 63,756,214		probably benign	Het
9030612E09Rik	G	T	10: 43,174,800	R30L	possibly damaging	Het
9030624J02Rik	G	C	7: 118,792,595	A410P	probably damaging	Het
Aadacl2	A	G	3: 60,017,423	D137G	possibly damaging	Het
Acad11	T	G	9: 104,086,023		probably benign	Het
Acap1	A	T	11: 69,885,485	N229K	probably damaging	Het
Agbl1	A	G	7: 76,720,150	T666A	probably damaging	Het
Btbd16	T	C	7: 130,790,224	F160L	probably damaging	Het
Clock	A	C	5: 76,231,513	H525Q	probably benign	Het
Col6a1	G	T	10: 76,711,088	Q767K	unknown	Het
Creld1	A	G	6: 113,489,776	H240R	probably benign	Het
Dlg4	G	A	11: 70,041,929		probably null	Het
Fam204a	A	T	19: 60,199,438	*237R	probably null	Het
Filip1	T	A	9: 79,898,433	N13I	probably damaging	Het
Gm14295	G	T	2: 176,807,413	A19S	probably benign	Het
Hddc3	A	T	7: 80,343,593	Q56L	probably damaging	Het
Hes6	A	C	1: 91,413,264		probably null	Het
Hormad1	A	G	3: 95,580,015	D270G	probably benign	Het
Ifitm1	A	G	7: 140,969,798		probably null	Het
Igbp1b	A	C	6: 138,657,873	V191G	probably damaging	Het
Impg2	T	A	16: 56,252,154	N316K	probably damaging	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Map4k4	A	G	1: 40,007,496	D775G	probably damaging	Het
Mtmr10	A	T	7: 64,297,497	K53N	probably damaging	Het
Mybpc2	G	A	7: 44,506,238	R864W	probably damaging	Het
Nckap1l	C	A	15: 103,483,568	P810Q	probably damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1197	C	T	2: 88,729,397	M67I	probably benign	Het
Olfr1377	A	G	11: 50,984,931	T77A	probably damaging	Het
Olfr301	T	C	7: 86,413,082	V281A	possibly damaging	Het
Ppp2r3c	T	C	12: 55,298,484	K73R	probably benign	Het
Ptpru	A	T	4: 131,771,469	F1311Y	probably damaging	Het
Ror2	G	A	13: 53,130,944	P144L	possibly damaging	Het
Setd2	A	G	9: 110,550,429	E1104G	possibly damaging	Het
St14	G	A	9: 31,108,234	T97I	probably benign	Het
Stag3	A	G	5: 138,283,028		probably benign	Het
Sytl3	T	C	17: 6,736,493	S326P	probably damaging	Het
Tor1b	G	T	2: 30,955,812	S167I	probably damaging	Het
Ttn	T	A	2: 76,738,015	E27511D	probably damaging	Het
Uso1	T	A	5: 92,158,399		probably benign	Het
Vmn1r10	G	T	6: 57,114,139	V239F	probably benign	Het
Zfp160	C	T	17: 21,025,745	R186C	possibly damaging	Het
Zfp869	A	G	8: 69,706,529	C465R	probably damaging	Het
Zfp957	T	C	14: 79,214,342	K6E	unknown	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
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
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'- TATCCTGTTATGTGCTGACGAATG -3'
(R):5'- TGCAGCCTAACCACACAGTG -3'

Sequencing Primer
(F):5'- GCTGACGAATGTGCCTATGTCTAAC -3'
(R):5'- CAGTGCACTCAGGAGAGACC -3'

Posted On

2014-11-12