Mutagenetix > Incidental Mutation

Incidental Mutation 'R7095:Lilra6'

550413

Institutional Source

Beutler Lab

Gene Symbol

Lilra6

Ensembl Gene

ENSMUSG00000030427

Gene Name

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

Synonyms

7M1, Pira3

MMRRC Submission

045243-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R7095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3911279-3918502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3916196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 221 (G221D)

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: G221D

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

SMART Domains

Protein: ENSMUSP00000042636
Gene: ENSMUSG00000030427
AA Change: G221D

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: G221D

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

SMART Domains

Protein: ENSMUSP00000088188
Gene: ENSMUSG00000030427
AA Change: G221D

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

probably benign
Transcript: ENSMUST00000206077

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 36,268,403 (GRCm39)	V809A	possibly damaging	Het
Adam32	T	A	8: 25,404,086 (GRCm39)	D242V	probably damaging	Het
Adamts9	T	A	6: 92,864,672 (GRCm39)	H763L	probably benign	Het
Aff1	A	G	5: 103,990,951 (GRCm39)	D967G	probably damaging	Het
Anpep	A	T	7: 79,491,950 (GRCm39)	L17Q	possibly damaging	Het
Appbp2	G	T	11: 85,125,553 (GRCm39)	S28*	probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Bod1l	A	G	5: 41,952,411 (GRCm39)		probably null	Het
Capn5	G	A	7: 97,775,038 (GRCm39)	T534I	probably benign	Het
Cbx2	T	C	11: 118,918,885 (GRCm39)	I150T	probably damaging	Het
Cdh11	A	G	8: 103,384,899 (GRCm39)	V392A	probably damaging	Het
Cenpf	A	T	1: 189,391,373 (GRCm39)	C803S	probably benign	Het
Cep135	A	G	5: 76,741,905 (GRCm39)	T114A	probably benign	Het
Chd2	A	T	7: 73,121,629 (GRCm39)	D994E	probably damaging	Het
Chtf18	C	A	17: 25,941,652 (GRCm39)	W584C	probably damaging	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dgkh	C	A	14: 78,865,224 (GRCm39)	M172I	probably benign	Het
Dpy19l2	T	G	9: 24,607,110 (GRCm39)	H117P	probably benign	Het
Dzip3	A	T	16: 48,748,153 (GRCm39)	N908K	probably benign	Het
Erc2	A	T	14: 27,620,550 (GRCm39)	N393Y	probably damaging	Het
Fam118b	T	C	9: 35,132,786 (GRCm39)	E291G	possibly damaging	Het
Fam193a	C	T	5: 34,615,378 (GRCm39)	L816F	probably damaging	Het
Fat2	A	G	11: 55,202,157 (GRCm39)	Y306H	probably damaging	Het
Fndc10	C	T	4: 155,779,574 (GRCm39)	T206I	probably damaging	Het
Fzd1	GGGACTCCTCCACCTCCCTGGA	GGGA	5: 4,805,824 (GRCm39)		probably benign	Het
Gsk3a	A	T	7: 24,933,279 (GRCm39)	Y177N	probably damaging	Het
Haus5	T	C	7: 30,358,997 (GRCm39)	T222A	probably benign	Het
Igfbp7	G	T	5: 77,549,337 (GRCm39)	Q189K	probably benign	Het
Inppl1	A	T	7: 101,476,663 (GRCm39)	Y771*	probably null	Het
Iqck	A	T	7: 118,514,814 (GRCm39)	Y234F	probably damaging	Het
Irs1	G	T	1: 82,267,819 (GRCm39)	C132*	probably null	Het
Jmjd1c	T	G	10: 67,055,411 (GRCm39)	V277G	probably benign	Het
Klhl22	G	A	16: 17,610,614 (GRCm39)	V622M	probably damaging	Het
Kri1	C	T	9: 21,190,728 (GRCm39)	E378K		Het
Mecom	T	C	3: 30,035,103 (GRCm39)	E191G	probably damaging	Het
Mgrn1	T	A	16: 4,745,528 (GRCm39)		probably null	Het
Mical1	C	T	10: 41,355,206 (GRCm39)		probably null	Het
Mlxipl	T	C	5: 135,162,884 (GRCm39)	Y711H	possibly damaging	Het
Mpl	T	A	4: 118,301,260 (GRCm39)	H535L		Het
Mtarc1	A	G	1: 184,527,437 (GRCm39)	L297P	probably damaging	Het
Mtfr2	C	A	10: 20,228,666 (GRCm39)	H71N	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,660,931 (GRCm39)		probably null	Het
Myh15	A	G	16: 48,992,272 (GRCm39)	Q1582R	possibly damaging	Het
Neb	C	T	2: 52,067,635 (GRCm39)	E6062K	possibly damaging	Het
Nlrp4c	G	A	7: 6,063,792 (GRCm39)	A67T	probably damaging	Het
Noc3l	T	A	19: 38,800,789 (GRCm39)	H231L	probably benign	Het
Odf1	T	C	15: 38,219,803 (GRCm39)	Y44H	possibly damaging	Het
Or52e2	G	A	7: 102,804,537 (GRCm39)	T139I	probably damaging	Het
Or52s1b	C	T	7: 102,822,253 (GRCm39)	R197H	probably benign	Het
Or5j3	C	T	2: 86,129,021 (GRCm39)	P287L	probably benign	Het
Otol1	G	T	3: 69,926,027 (GRCm39)	E67D	probably benign	Het
Otud7b	A	G	3: 96,062,554 (GRCm39)	S598G	probably benign	Het
Ppwd1	T	A	13: 104,342,134 (GRCm39)	T607S	probably benign	Het
Prag1	A	G	8: 36,569,714 (GRCm39)	N99S	probably benign	Het
Ralgds	C	A	2: 28,439,320 (GRCm39)	Q737K	possibly damaging	Het
Scyl2	T	C	10: 89,505,549 (GRCm39)	H98R	probably damaging	Het
Secisbp2	A	C	13: 51,831,290 (GRCm39)	Q575H	probably benign	Het
Slc9a5	A	T	8: 106,084,268 (GRCm39)	H497L	probably benign	Het
Sufu	T	A	19: 46,464,027 (GRCm39)	V414E	probably damaging	Het
Tbc1d22b	A	T	17: 29,818,843 (GRCm39)	E399V	probably damaging	Het
Tcp10c	G	A	17: 13,576,196 (GRCm39)	V59I	probably benign	Het
Tdpoz3	T	C	3: 93,734,368 (GRCm39)	S348P	probably benign	Het
Tmem219	A	T	7: 126,490,928 (GRCm39)	F176L	probably damaging	Het
Trav6-2	A	G	14: 52,905,291 (GRCm39)	D104G	probably damaging	Het
Uba7	A	G	9: 107,860,538 (GRCm39)	K927R	probably benign	Het
Vps54	T	G	11: 21,221,720 (GRCm39)	D158E	probably benign	Het
Xpnpep1	C	T	19: 53,000,196 (GRCm39)		probably null	Het
Xpo7	G	A	14: 70,942,146 (GRCm39)	R73W	probably damaging	Het
Zfp532	A	T	18: 65,815,969 (GRCm39)	M781L	probably benign	Het
Zfp930	T	A	8: 69,681,193 (GRCm39)	I295K	probably benign	Het

Other mutations in Lilra6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Lilra6	APN	7	3,914,553 (GRCm39)	missense	probably benign	0.04
IGL00569:Lilra6	APN	7	3,917,588 (GRCm39)	missense	probably damaging	0.99
IGL00899:Lilra6	APN	7	3,916,056 (GRCm39)	missense	probably damaging	1.00
IGL00955:Lilra6	APN	7	3,914,403 (GRCm39)	splice site	probably benign
IGL01585:Lilra6	APN	7	3,917,498 (GRCm39)	missense	probably benign	0.01
IGL02195:Lilra6	APN	7	3,917,549 (GRCm39)	missense	probably benign	0.00
IGL02586:Lilra6	APN	7	3,911,819 (GRCm39)	missense	probably benign	0.36
IGL02719:Lilra6	APN	7	3,915,991 (GRCm39)	missense	possibly damaging	0.96
IGL03166:Lilra6	APN	7	3,915,626 (GRCm39)	missense	possibly damaging	0.69
IGL03329:Lilra6	APN	7	3,917,647 (GRCm39)	splice site	probably benign
R0233:Lilra6	UTSW	7	3,917,935 (GRCm39)	missense	possibly damaging	0.69
R0233:Lilra6	UTSW	7	3,917,935 (GRCm39)	missense	possibly damaging	0.69
R0423:Lilra6	UTSW	7	3,917,774 (GRCm39)	splice site	probably benign
R0483:Lilra6	UTSW	7	3,916,138 (GRCm39)	missense	probably benign	0.02
R0511:Lilra6	UTSW	7	3,915,784 (GRCm39)	missense	possibly damaging	0.77
R1472:Lilra6	UTSW	7	3,915,718 (GRCm39)	missense	probably damaging	1.00
R1560:Lilra6	UTSW	7	3,914,407 (GRCm39)	critical splice donor site	probably null
R1584:Lilra6	UTSW	7	3,915,661 (GRCm39)	missense	probably damaging	1.00
R1781:Lilra6	UTSW	7	3,918,066 (GRCm39)	missense	probably benign	0.28
R2411:Lilra6	UTSW	7	3,914,453 (GRCm39)	missense	probably damaging	1.00
R2420:Lilra6	UTSW	7	3,917,857 (GRCm39)	missense	probably damaging	1.00
R4021:Lilra6	UTSW	7	3,914,417 (GRCm39)	missense	probably benign	0.20
R4074:Lilra6	UTSW	7	3,917,889 (GRCm39)	missense	probably benign	0.23
R4284:Lilra6	UTSW	7	3,911,803 (GRCm39)	missense	possibly damaging	0.76
R4508:Lilra6	UTSW	7	3,915,028 (GRCm39)	nonsense	probably null
R4894:Lilra6	UTSW	7	3,915,530 (GRCm39)	missense	probably benign	0.01
R4977:Lilra6	UTSW	7	3,917,382 (GRCm39)	missense	probably benign	0.01
R5048:Lilra6	UTSW	7	3,918,440 (GRCm39)	critical splice donor site	probably null
R5164:Lilra6	UTSW	7	3,917,880 (GRCm39)	missense	probably damaging	1.00
R5185:Lilra6	UTSW	7	3,917,635 (GRCm39)	missense	probably benign	0.00
R5527:Lilra6	UTSW	7	3,917,586 (GRCm39)	start gained	probably benign
R6281:Lilra6	UTSW	7	3,914,972 (GRCm39)	missense	probably damaging	1.00
R6480:Lilra6	UTSW	7	3,915,932 (GRCm39)	missense	probably damaging	1.00
R6512:Lilra6	UTSW	7	3,917,387 (GRCm39)	missense	probably benign	0.06
R6565:Lilra6	UTSW	7	3,918,019 (GRCm39)	missense	probably benign
R7017:Lilra6	UTSW	7	3,911,707 (GRCm39)	missense	possibly damaging	0.93
R7747:Lilra6	UTSW	7	3,915,995 (GRCm39)	missense	probably benign	0.16
R8056:Lilra6	UTSW	7	3,915,551 (GRCm39)	missense	probably damaging	1.00
R8280:Lilra6	UTSW	7	3,916,046 (GRCm39)	missense	probably benign	0.01
R9197:Lilra6	UTSW	7	3,915,716 (GRCm39)	missense	possibly damaging	0.94
R9354:Lilra6	UTSW	7	3,914,628 (GRCm39)	missense	probably damaging	1.00
R9379:Lilra6	UTSW	7	3,916,166 (GRCm39)	missense	probably damaging	1.00
R9406:Lilra6	UTSW	7	3,917,853 (GRCm39)	missense	probably benign
R9462:Lilra6	UTSW	7	3,914,994 (GRCm39)	missense	probably damaging	0.97
R9649:Lilra6	UTSW	7	3,917,521 (GRCm39)	missense	possibly damaging	0.47
Z1176:Lilra6	UTSW	7	3,918,073 (GRCm39)	critical splice acceptor site	probably null
Z1177:Lilra6	UTSW	7	3,915,580 (GRCm39)	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- TGAAGAACTTGCCCTTGTTCC -3'
(R):5'- AAAAGCCTCTCTTCTCTGAAACAG -3'

Sequencing Primer
(F):5'- TGTTCCCAGGCTCCTGTAGG -3'
(R):5'- TCTGAAACAGAGGAGCAGTGAGTC -3'

Posted On

2019-05-15