Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00569:Lilra6'

5339

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lilra6

Ensembl Gene

ENSMUSG00000030427

Gene Name

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6

Synonyms

Pira3, 7M1

Accession Numbers

Is this an essential gene?

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

Stock #

IGL00569

Quality Score

Status

Chromosome

Chromosomal Location

3908280-3915503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3914589 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 136 (S136P)

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: S136P

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042636
Gene: ENSMUSG00000030427
AA Change: S136P

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: S136P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088188
Gene: ENSMUSG00000030427
AA Change: S136P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	A	T	7: 29,534,140		noncoding transcript	Het
Abca6	T	G	11: 110,187,049	N1311H	possibly damaging	Het
Apol8	C	T	15: 77,750,055	R107H	probably benign	Het
Cacna1a	T	A	8: 84,462,714	I98N	probably damaging	Het
Clps	T	A	17: 28,560,662		probably benign	Het
Dcc	T	A	18: 71,384,225		probably null	Het
Dock10	A	G	1: 80,585,012	F544L	probably damaging	Het
Eif2ak2	A	T	17: 78,869,483	S218T	probably benign	Het
Faf1	T	C	4: 109,961,880	*650Q	probably null	Het
Fxn	A	T	19: 24,267,350	I142N	probably damaging	Het
Gm10610	A	T	7: 83,549,570		noncoding transcript	Het
Gm9774	T	C	3: 92,428,400	T332A	probably benign	Het
Hspa1l	C	T	17: 34,977,465	T160I	probably damaging	Het
Kcng4	A	G	8: 119,626,331	V280A	probably benign	Het
Khsrp	T	C	17: 57,023,092	T646A	possibly damaging	Het
Lmo7	T	G	14: 101,887,051	N315K	probably damaging	Het
Map3k5	A	G	10: 19,935,044	T147A	possibly damaging	Het
Mical3	T	C	6: 120,961,624	E1134G	possibly damaging	Het
Nek3	A	G	8: 22,158,706	L103P	probably damaging	Het
Nudt17	G	T	3: 96,707,027	P222Q	probably damaging	Het
Pla2r1	G	T	2: 60,420,425	T1386K	probably benign	Het
Ptpn13	A	G	5: 103,591,006		probably benign	Het
Rgl1	A	C	1: 152,571,617	S134A	probably benign	Het
Rnls	T	A	19: 33,168,488	E195V	probably benign	Het
Sall4	T	C	2: 168,755,312	N536S	probably benign	Het
Serinc3	G	T	2: 163,628,001	P309Q	probably damaging	Het
Smc5	G	A	19: 23,235,965	R528C	probably damaging	Het
Stxbp3-ps	A	T	19: 9,557,822		noncoding transcript	Het
Tmem67	T	A	4: 12,061,826	I549L	probably damaging	Het
Trank1	C	A	9: 111,345,511	H269N	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
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
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	not run
Z1176:Lilra6	UTSW	7	3915074	critical splice acceptor site	probably null
Z1177:Lilra6	UTSW	7	3912581	missense	possibly damaging	0.48

Posted On

2012-04-20