Mutagenetix > Incidental Mutation

Incidental Mutation 'R4894:Lilra6'

377490

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R4894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3908280-3915503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3912531 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 161 (T161A)

Ref Sequence

ENSEMBL: ENSMUSP00000145890 (fasta)

Gene Model

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

AlphaFold

A0A0B4J1F3

Predicted Effect

probably benign
Transcript: ENSMUST00000038176
AA Change: T402A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042636
Gene: ENSMUSG00000030427
AA Change: T402A

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
AA Change: T364A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000088188
Gene: ENSMUSG00000030427
AA Change: T364A

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
AA Change: T161A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206851

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	C	A	17: 43,299,084	Y176*	probably null	Het
Akap13	T	A	7: 75,725,320	M1900K	possibly damaging	Het
Ankrd36	A	G	11: 5,635,332	E381G	probably damaging	Het
Ap3s1	T	C	18: 46,758,116		probably null	Het
Cacna1e	G	T	1: 154,488,805	S341*	probably null	Het
Camk1d	G	A	2: 5,354,728	S161L	probably damaging	Het
Cdh23	G	T	10: 60,337,851	H1619Q	probably benign	Het
Chd7	T	A	4: 8,838,629	I1276N	probably damaging	Het
Clca1	A	G	3: 145,013,901	V436A	probably damaging	Het
Ctcfl	G	A	2: 173,117,403	P177S	probably benign	Het
Dab2ip	A	G	2: 35,730,527		probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Epc1	A	T	18: 6,449,011	S495R	probably benign	Het
Espl1	A	G	15: 102,322,323		probably null	Het
Eya4	T	C	10: 23,109,854	E583G	possibly damaging	Het
Fam111a	C	G	19: 12,588,549	T554R	probably benign	Het
Fbxo18	A	T	2: 11,762,960	I359N	probably damaging	Het
Fer1l6	T	C	15: 58,618,902	C1023R	probably damaging	Het
Gm14139	T	A	2: 150,191,979	C104*	probably null	Het
Helz2	G	C	2: 181,236,147	P953A	probably benign	Het
Ifi204	G	T	1: 173,760,242	S117Y	probably damaging	Het
Igfn1	G	A	1: 135,954,782	T2775M	probably damaging	Het
Igsf9	A	G	1: 172,498,067	T1101A	probably benign	Het
Ipo13	A	C	4: 117,903,441	I614S	probably damaging	Het
Ipo13	A	G	4: 117,904,490	I476T	possibly damaging	Het
Kdm2b	C	A	5: 122,940,967	E308*	probably null	Het
Klhl20	A	T	1: 161,109,532	M91K	possibly damaging	Het
Klrb1f	T	C	6: 129,053,188	F64L	probably benign	Het
Ldlrad3	C	T	2: 102,057,948	C106Y	probably damaging	Het
Lrriq1	A	T	10: 103,161,752	M1334K	possibly damaging	Het
Mepe	C	G	5: 104,325,402	P3R	probably damaging	Het
Mgat4e	A	G	1: 134,541,118	V396A	probably benign	Het
Nfx1	T	G	4: 40,996,877	S651A	probably damaging	Het
Olfr1214	T	C	2: 88,987,439	I254M	possibly damaging	Het
Olfr1337	A	T	4: 118,782,286	C100S	probably damaging	Het
Olfr1361	T	C	13: 21,659,182	N47S	probably damaging	Het
Rag2	T	C	2: 101,629,677	S111P	probably damaging	Het
Rai1	T	A	11: 60,186,746	D545E	probably damaging	Het
Ralgps1	A	G	2: 33,143,103	V498A	possibly damaging	Het
Rasal2	G	A	1: 157,192,804	S205L	probably damaging	Het
Rec8	T	C	14: 55,625,330	L582P	probably damaging	Het
Retn	G	A	8: 3,657,358	R106H	probably damaging	Het
Rnf112	A	G	11: 61,452,662	L116P	probably damaging	Het
Rnf213	T	C	11: 119,481,240	Y4885H	probably damaging	Het
Sacm1l	A	G	9: 123,582,344	I399M	probably benign	Het
Sez6	G	T	11: 77,975,260	G738V	probably damaging	Het
Spata17	A	G	1: 187,140,446	V56A	probably benign	Het
Spata31d1a	A	T	13: 59,701,728	V862D	probably damaging	Het
Sptb	A	G	12: 76,624,994		probably null	Het
Srpk2	C	A	5: 23,545,529	G59W	probably damaging	Het
Ttc30a1	T	C	2: 75,979,744	*665W	probably null	Het
Tyro3	T	C	2: 119,802,298	S96P	probably damaging	Het
Ube2v1	A	G	2: 167,610,360	S108P	probably damaging	Het
Usp2	C	T	9: 44,075,828	S141L	probably benign	Het
Vamp5	T	C	6: 72,370,198	D46G	possibly damaging	Het
Vmn1r23	T	A	6: 57,926,325	Q156L	probably benign	Het
Vmn2r6	C	T	3: 64,547,408	S490N	probably benign	Het
Vps39	A	T	2: 120,352,959	I10N	probably damaging	Het
Vwf	C	T	6: 125,645,934	Q1755*	probably null	Het
Wdfy4	A	T	14: 33,155,760	H82Q	probably benign	Het
Wdr24	T	C	17: 25,826,127	Y279H	probably damaging	Het
Wdr72	A	G	9: 74,210,561	T852A	probably benign	Het
Zfp1	T	A	8: 111,669,723	C92*	probably null	Het
Zfp426	A	T	9: 20,475,073		probably benign	Het
Zfp442	C	T	2: 150,411,210		probably null	Het
Zfp74	T	C	7: 29,936,045		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
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	probably benign
R9462:Lilra6	UTSW	7	3911995	missense	probably damaging	0.97
R9649:Lilra6	UTSW	7	3914522	missense	possibly damaging	0.47
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'- TTTCGAGAACACAGGCTCTCC -3'
(R):5'- CACTATGAACCCAGGCTCTCAG -3'

Sequencing Primer
(F):5'- CGAGAACACAGGCTCTCCATTTTATG -3'
(R):5'- GGAAGATGACACTCCACTGTGC -3'

Posted On

2016-03-17