Mutagenetix > Incidental Mutation

Incidental Mutation 'R4583:Lnx1'

343811

Institutional Source

Beutler Lab

Gene Symbol

Lnx1

Ensembl Gene

ENSMUSG00000029228

Gene Name

ligand of numb-protein X 1

Synonyms

MMRRC Submission

041804-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R4583 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74753108-74863573 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74771457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 350 (V350I)

Ref Sequence

ENSEMBL: ENSMUSP00000113565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039744] [ENSMUST00000087161] [ENSMUST00000113531] [ENSMUST00000117388] [ENSMUST00000117525] [ENSMUST00000121690] [ENSMUST00000127396] [ENSMUST00000153543]

AlphaFold

O70263

Predicted Effect

probably benign
Transcript: ENSMUST00000039744
AA Change: V360I

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000040098
Gene: ENSMUSG00000029228
AA Change: V360I

Domain	Start	End	E-Value	Type
low complexity region	4	12	N/A	INTRINSIC
Blast:PDZ	57	164	1e-33	BLAST
PDZ	188	263	5.33e-19	SMART
PDZ	295	368	2.27e-13	SMART
PDZ	417	494	8.27e-16	SMART
PDZ	547	624	5.71e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000087161
AA Change: V460I

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000084405
Gene: ENSMUSG00000029228
AA Change: V460I

Domain	Start	End	E-Value	Type
RING	45	82	5.82e-6	SMART
low complexity region	97	107	N/A	INTRINSIC
Blast:PDZ	157	264	3e-33	BLAST
PDZ	288	363	5.33e-19	SMART
PDZ	395	468	2.27e-13	SMART
PDZ	517	594	8.27e-16	SMART
PDZ	647	724	5.71e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113531
AA Change: V301I

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000109159
Gene: ENSMUSG00000029228
AA Change: V301I

Domain	Start	End	E-Value	Type
Blast:PDZ	2	105	2e-32	BLAST
PDZ	129	204	5.33e-19	SMART
PDZ	236	309	2.27e-13	SMART
PDZ	358	435	8.27e-16	SMART
PDZ	488	565	5.71e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117388
AA Change: V460I

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113035
Gene: ENSMUSG00000029228
AA Change: V460I

Domain	Start	End	E-Value	Type
RING	45	82	5.82e-6	SMART
low complexity region	97	107	N/A	INTRINSIC
Blast:PDZ	157	264	3e-33	BLAST
PDZ	288	363	5.33e-19	SMART
PDZ	395	468	2.27e-13	SMART
PDZ	517	594	8.27e-16	SMART
PDZ	647	724	5.71e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117525
AA Change: V360I

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113837
Gene: ENSMUSG00000029228
AA Change: V360I

Domain	Start	End	E-Value	Type
low complexity region	4	12	N/A	INTRINSIC
Blast:PDZ	57	164	1e-33	BLAST
PDZ	188	263	5.33e-19	SMART
PDZ	295	368	2.27e-13	SMART
PDZ	417	494	8.27e-16	SMART
PDZ	547	624	5.71e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121690
AA Change: V350I

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113565
Gene: ENSMUSG00000029228
AA Change: V350I

Domain	Start	End	E-Value	Type
low complexity region	4	12	N/A	INTRINSIC
PDZ	178	253	5.33e-19	SMART
PDZ	285	358	2.27e-13	SMART
PDZ	407	484	8.27e-16	SMART
PDZ	537	614	5.71e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127396

SMART Domains

Protein: ENSMUSP00000120886
Gene: ENSMUSG00000029228

Domain	Start	End	E-Value	Type
low complexity region	4	12	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153543
AA Change: V301I

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000121094
Gene: ENSMUSG00000029228
AA Change: V301I

Domain	Start	End	E-Value	Type
Blast:PDZ	2	105	9e-37	BLAST
Blast:PDZ	129	159	1e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000140084

SMART Domains

Protein: ENSMUSP00000117935
Gene: ENSMUSG00000029228

Domain	Start	End	E-Value	Type
PDZ	1	47	2.73e-1	SMART
PDZ	79	154	1.51e-9	SMART
PDZ	156	233	8.27e-16	SMART
SCOP:d1qaua_	274	322	3e-7	SMART
Blast:PDZ	286	322	4e-19	BLAST

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit an increased percentage of B1-like B cells in peritoneal lavage when compared with that of controls. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,274,017 (GRCm39)	L86P	unknown	Het
Aimp1	C	T	3: 132,382,808 (GRCm39)	E23K	probably damaging	Het
Ap2b1	A	T	11: 83,288,605 (GRCm39)	N884I	probably benign	Het
Apoe	G	T	7: 19,431,423 (GRCm39)	Q65K	possibly damaging	Het
Arhgef1	T	A	7: 24,611,996 (GRCm39)	D93E	probably benign	Het
Arhgef12	G	T	9: 42,888,958 (GRCm39)	T1085K	probably damaging	Het
Arid5a	T	C	1: 36,356,745 (GRCm39)		probably null	Het
Atp9a	A	T	2: 168,531,280 (GRCm39)		probably null	Het
Baz1a	T	C	12: 54,969,325 (GRCm39)	I635V	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Cckar	T	A	5: 53,857,124 (GRCm39)	M429L	probably benign	Het
Ccl3	A	T	11: 83,539,164 (GRCm39)	L65Q	probably benign	Het
Ccr3	A	G	9: 123,829,477 (GRCm39)	T271A	probably benign	Het
Cd8b1	T	A	6: 71,303,081 (GRCm39)	I52N	probably damaging	Het
Cdh15	G	A	8: 123,591,767 (GRCm39)	E551K	probably damaging	Het
Cdh17	A	G	4: 11,810,466 (GRCm39)	K719R	probably benign	Het
Cfap43	T	C	19: 47,825,655 (GRCm39)	R38G	probably null	Het
Chd6	T	C	2: 160,856,114 (GRCm39)	E715G	probably damaging	Het
Cldn34b2	T	A	X: 153,908,625 (GRCm39)	R68*	probably null	Het
Col19a1	T	G	1: 24,600,410 (GRCm39)	D44A	unknown	Het
Colgalt2	C	T	1: 152,382,627 (GRCm39)	S493F	probably damaging	Het
Cr1l	T	C	1: 194,812,139 (GRCm39)	I99M	probably damaging	Het
Crybg1	T	C	10: 43,873,616 (GRCm39)	E1164G	probably damaging	Het
Cym	G	T	3: 107,118,718 (GRCm39)	D367E	probably damaging	Het
Dennd2a	G	T	6: 39,499,776 (GRCm39)	T263K	probably damaging	Het
Dhx9	T	A	1: 153,336,049 (GRCm39)	M869L	probably damaging	Het
Dnm2	A	G	9: 21,415,742 (GRCm39)	H692R	probably damaging	Het
Ern1	A	T	11: 106,298,031 (GRCm39)	S697T	probably damaging	Het
F12	G	A	13: 55,568,943 (GRCm39)	T273I	probably benign	Het
Fam151b	A	T	13: 92,604,617 (GRCm39)	L124Q	probably damaging	Het
Fancg	A	G	4: 43,002,991 (GRCm39)	V622A	probably benign	Het
Fbxo2	T	A	4: 148,249,356 (GRCm39)	N159K	possibly damaging	Het
Fgd2	C	A	17: 29,586,052 (GRCm39)	T212K	possibly damaging	Het
Fhl3	T	A	4: 124,601,342 (GRCm39)	D178E	probably benign	Het
Filip1	G	T	9: 79,723,091 (GRCm39)	A1176D	possibly damaging	Het
Fndc1	T	C	17: 7,958,081 (GRCm39)	Y1722C	probably damaging	Het
Frem3	T	C	8: 81,340,143 (GRCm39)	V812A	probably benign	Het
Fsip2	A	G	2: 82,809,017 (GRCm39)	I1779V	probably benign	Het
Gli2	C	T	1: 118,769,798 (GRCm39)	V585I	probably benign	Het
Gm15056	C	G	8: 21,390,697 (GRCm39)	S80T	probably benign	Het
Gm5145	A	G	17: 20,790,715 (GRCm39)	E31G	probably benign	Het
Gmfg	A	G	7: 28,145,369 (GRCm39)	Y71C	probably damaging	Het
Grk1	A	G	8: 13,459,322 (GRCm39)	E291G	probably damaging	Het
Gtpbp1	A	G	15: 79,600,152 (GRCm39)	E393G	possibly damaging	Het
Gtpbp2	A	G	17: 46,472,071 (GRCm39)	D2G	probably damaging	Het
Hc	A	T	2: 34,918,189 (GRCm39)	V698E	probably benign	Het
Helz	G	A	11: 107,536,895 (GRCm39)	R249H	probably damaging	Het
Hmcn2	A	G	2: 31,303,277 (GRCm39)	I2973V	possibly damaging	Het
Hnrnpa3	A	G	2: 75,493,950 (GRCm39)	R286G	probably benign	Het
Hus1b	A	T	13: 31,131,501 (GRCm39)	W53R	probably damaging	Het
Hydin	C	T	8: 111,321,857 (GRCm39)	T4503I	probably benign	Het
Ighmbp2	G	C	19: 3,315,324 (GRCm39)	P699A	probably benign	Het
Igkv1-122	A	T	6: 67,994,442 (GRCm39)	Y110F	probably benign	Het
Igkv8-28	T	C	6: 70,120,604 (GRCm39)	Y113C	probably damaging	Het
Iigp1c	T	C	18: 60,379,152 (GRCm39)	I229T	possibly damaging	Het
Il16	A	G	7: 83,332,107 (GRCm39)	S158P	probably damaging	Het
Kalrn	T	A	16: 34,055,637 (GRCm39)	H876L	probably damaging	Het
Kdm5d	T	A	Y: 914,134 (GRCm39)	L357H	probably damaging	Het
Krt78	T	C	15: 101,855,055 (GRCm39)	T919A	possibly damaging	Het
L3mbtl2	T	C	15: 81,569,107 (GRCm39)	C594R	probably damaging	Het
Lcorl	A	T	5: 45,890,931 (GRCm39)	L474*	probably null	Het
Lgals3	A	T	14: 47,619,144 (GRCm39)		probably null	Het
Lpcat3	T	G	6: 124,680,286 (GRCm39)	W429G	possibly damaging	Het
Lrp1	T	C	10: 127,377,241 (GRCm39)	T4149A	probably benign	Het
Memo1	G	A	17: 74,565,456 (GRCm39)	Q36*	probably null	Het
Mical2	A	G	7: 112,012,154 (GRCm39)	N668S	probably benign	Het
Ms4a10	A	T	19: 10,945,553 (GRCm39)	I76N	possibly damaging	Het
Mthfr	T	G	4: 148,136,329 (GRCm39)	L362V	possibly damaging	Het
Myh3	T	A	11: 66,987,279 (GRCm39)	Y1376*	probably null	Het
Mymk	C	A	2: 26,952,292 (GRCm39)	V192F	probably benign	Het
Myo1c	A	G	11: 75,562,688 (GRCm39)	D966G	possibly damaging	Het
Ncam2	A	G	16: 81,314,445 (GRCm39)	N474D	probably damaging	Het
Nmnat1	T	C	4: 149,553,608 (GRCm39)	N168S	possibly damaging	Het
Nmur1	C	T	1: 86,314,367 (GRCm39)	V323M	possibly damaging	Het
Npr2	C	A	4: 43,633,522 (GRCm39)		probably null	Het
Nsd3	T	A	8: 26,200,703 (GRCm39)	M1265K	probably benign	Het
Or13c7	A	G	4: 43,855,262 (GRCm39)	T318A	probably benign	Het
Or1e34	T	C	11: 73,778,629 (GRCm39)	T190A	probably damaging	Het
Or1j16	A	C	2: 36,530,626 (GRCm39)	T192P	probably damaging	Het
Or4c107	T	A	2: 88,789,556 (GRCm39)	F249I	probably damaging	Het
Or4c11	G	T	2: 88,695,838 (GRCm39)	M296I	probably benign	Het
Or5b108	T	A	19: 13,168,062 (GRCm39)	F10L	probably damaging	Het
Or5i1	T	C	2: 87,613,565 (GRCm39)	V227A	possibly damaging	Het
Or6c216	T	C	10: 129,678,344 (GRCm39)	D189G	probably damaging	Het
Otub1	G	A	19: 7,181,801 (GRCm39)	A25V	possibly damaging	Het
Paqr3	T	A	5: 97,256,069 (GRCm39)	R102*	probably null	Het
Patl2	A	G	2: 121,957,226 (GRCm39)	S103P	probably benign	Het
Pcdhb15	A	T	18: 37,608,628 (GRCm39)	H620L	possibly damaging	Het
Pdgfc	A	T	3: 81,048,835 (GRCm39)	D81V	possibly damaging	Het
Pdia2	T	C	17: 26,415,476 (GRCm39)	D447G	probably damaging	Het
Pold1	C	A	7: 44,188,337 (GRCm39)	A514S	probably damaging	Het
Pomgnt1	C	T	4: 116,015,691 (GRCm39)	T552I	probably benign	Het
Ppl	T	C	16: 4,922,400 (GRCm39)	E294G	probably benign	Het
Pramel12	A	G	4: 143,143,324 (GRCm39)	Y30C	probably damaging	Het
Prkcb	A	G	7: 122,056,447 (GRCm39)	S100G	probably benign	Het
Psg16	T	G	7: 16,829,097 (GRCm39)	I227S	probably benign	Het
Rbbp6	AAAGAAGAAGAAGAAGAAG	AAAGAAGAAGAAGAAG	7: 122,601,175 (GRCm39)		probably benign	Het
Reck	T	C	4: 43,931,062 (GRCm39)		probably null	Het
Rrbp1	C	T	2: 143,830,671 (GRCm39)	G499S	probably benign	Het
Sema6d	G	T	2: 124,506,082 (GRCm39)	R630L	probably damaging	Het
Slc29a1	A	G	17: 45,900,882 (GRCm39)	V94A	possibly damaging	Het
Slc35a1	T	A	4: 34,664,146 (GRCm39)	Q324L	probably benign	Het
Slc35c1	A	T	2: 92,289,266 (GRCm39)	L80Q	probably damaging	Het
Slc7a10	G	T	7: 34,897,377 (GRCm39)		probably null	Het
Srrm2	C	T	17: 24,038,593 (GRCm39)		probably benign	Het
Stk38	T	G	17: 29,201,130 (GRCm39)	D182A	probably damaging	Het
Tas2r104	C	T	6: 131,662,398 (GRCm39)	G104S	probably benign	Het
Tmem121b	T	C	6: 120,469,055 (GRCm39)	E554G	probably damaging	Het
Tor1aip2	A	G	1: 155,940,888 (GRCm39)	H398R	probably benign	Het
Tram2	C	T	1: 21,083,673 (GRCm39)	V83I	probably benign	Het
Ube3a	C	T	7: 58,935,811 (GRCm39)	T565I	probably damaging	Het
Ubr4	T	C	4: 139,108,164 (GRCm39)	V56A	possibly damaging	Het
Vmn1r128	T	C	7: 21,083,644 (GRCm39)	V116A	possibly damaging	Het
Vmn1r170	C	T	7: 23,306,087 (GRCm39)	T163I	probably benign	Het
Vmn2r75	T	A	7: 85,813,290 (GRCm39)	D504V	possibly damaging	Het
Vps36	G	A	8: 22,708,436 (GRCm39)	M363I	probably benign	Het
Wdsub1	A	G	2: 59,708,661 (GRCm39)	S71P	probably damaging	Het
Zdhhc12	A	G	2: 29,981,496 (GRCm39)	F189L	probably benign	Het
Zfp521	T	C	18: 13,977,387 (GRCm39)	M1009V	probably benign	Het

Other mutations in Lnx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Lnx1	APN	5	74,846,378 (GRCm39)	missense	probably benign	0.00
IGL01538:Lnx1	APN	5	74,780,816 (GRCm39)	missense	possibly damaging	0.50
IGL02351:Lnx1	APN	5	74,788,027 (GRCm39)	missense	probably damaging	0.97
IGL02358:Lnx1	APN	5	74,788,027 (GRCm39)	missense	probably damaging	0.97
IGL03011:Lnx1	APN	5	74,846,420 (GRCm39)	missense	probably benign	0.02
IGL03188:Lnx1	APN	5	74,780,924 (GRCm39)	missense	probably damaging	1.00
bobcat	UTSW	5	74,846,351 (GRCm39)	missense	probably damaging	1.00
Caracal	UTSW	5	74,766,710 (GRCm39)	missense	probably damaging	1.00
R0490:Lnx1	UTSW	5	74,781,008 (GRCm39)	critical splice acceptor site	probably null
R0714:Lnx1	UTSW	5	74,768,570 (GRCm39)	splice site	probably benign
R1343:Lnx1	UTSW	5	74,758,040 (GRCm39)	missense	probably damaging	0.98
R1533:Lnx1	UTSW	5	74,780,678 (GRCm39)	missense	probably damaging	1.00
R1681:Lnx1	UTSW	5	74,846,071 (GRCm39)	missense	probably benign
R1714:Lnx1	UTSW	5	74,768,398 (GRCm39)	missense	probably null	1.00
R1727:Lnx1	UTSW	5	74,768,577 (GRCm39)	splice site	probably null
R1806:Lnx1	UTSW	5	74,766,710 (GRCm39)	missense	probably damaging	1.00
R2091:Lnx1	UTSW	5	74,780,727 (GRCm39)	missense	probably benign	0.25
R2879:Lnx1	UTSW	5	74,780,784 (GRCm39)	missense	probably benign	0.03
R2984:Lnx1	UTSW	5	74,846,083 (GRCm39)	nonsense	probably null
R3790:Lnx1	UTSW	5	74,789,027 (GRCm39)	splice site	probably benign
R3953:Lnx1	UTSW	5	74,766,750 (GRCm39)	missense	probably benign
R4509:Lnx1	UTSW	5	74,780,853 (GRCm39)	missense	probably damaging	1.00
R4510:Lnx1	UTSW	5	74,780,853 (GRCm39)	missense	probably damaging	1.00
R4511:Lnx1	UTSW	5	74,780,853 (GRCm39)	missense	probably damaging	1.00
R4575:Lnx1	UTSW	5	74,846,204 (GRCm39)	missense	probably damaging	1.00
R4624:Lnx1	UTSW	5	74,821,121 (GRCm39)	intron	probably benign
R4647:Lnx1	UTSW	5	74,771,457 (GRCm39)	missense	probably benign	0.16
R4648:Lnx1	UTSW	5	74,771,457 (GRCm39)	missense	probably benign	0.16
R4877:Lnx1	UTSW	5	74,788,784 (GRCm39)	missense	probably benign	0.01
R4883:Lnx1	UTSW	5	74,768,530 (GRCm39)	missense	probably benign
R5256:Lnx1	UTSW	5	74,846,315 (GRCm39)	missense	probably damaging	1.00
R6169:Lnx1	UTSW	5	74,838,230 (GRCm39)	missense	probably damaging	1.00
R6185:Lnx1	UTSW	5	74,846,269 (GRCm39)	nonsense	probably null
R6408:Lnx1	UTSW	5	74,846,307 (GRCm39)	missense	probably damaging	1.00
R6476:Lnx1	UTSW	5	74,768,541 (GRCm39)	missense	possibly damaging	0.52
R7083:Lnx1	UTSW	5	74,788,846 (GRCm39)	missense	possibly damaging	0.94
R7085:Lnx1	UTSW	5	74,788,846 (GRCm39)	missense	possibly damaging	0.94
R7261:Lnx1	UTSW	5	74,838,175 (GRCm39)	nonsense	probably null
R7511:Lnx1	UTSW	5	74,780,972 (GRCm39)	missense	probably benign	0.01
R7574:Lnx1	UTSW	5	74,846,099 (GRCm39)	missense	probably benign	0.33
R7670:Lnx1	UTSW	5	74,846,351 (GRCm39)	missense	probably damaging	1.00
R8145:Lnx1	UTSW	5	74,846,060 (GRCm39)	missense	probably benign	0.22
R9015:Lnx1	UTSW	5	74,780,783 (GRCm39)	missense	probably benign	0.00
R9224:Lnx1	UTSW	5	74,766,810 (GRCm39)	missense	probably benign	0.37
R9321:Lnx1	UTSW	5	74,780,991 (GRCm39)	missense	probably damaging	1.00
R9340:Lnx1	UTSW	5	74,758,584 (GRCm39)	missense	probably benign	0.01
R9704:Lnx1	UTSW	5	74,780,879 (GRCm39)	missense	probably benign	0.02
Z1177:Lnx1	UTSW	5	74,788,102 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- CAAGAAGTAGCTCCTTGCAGG -3'
(R):5'- AATATGTCCTTCCATCTTTGACCACAG -3'

Sequencing Primer
(F):5'- AGGAGCTGCTGACATGCCTG -3'
(R):5'- TCAGGGGGTGCTAACCTAG -3'

Posted On

2015-09-24