Mutagenetix > Incidental Mutation

Incidental Mutation 'R4883:Lnx1'

375387

Institutional Source

Beutler Lab

Gene Symbol

Lnx1

Ensembl Gene

ENSMUSG00000029228

Gene Name

ligand of numb-protein X 1

Synonyms

MMRRC Submission

042491-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R4883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74753108-74863573 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74768530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 353 (W353R)

Ref Sequence

ENSEMBL: ENSMUSP00000121094 (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: W412R

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

SMART Domains

Protein: ENSMUSP00000040098
Gene: ENSMUSG00000029228
AA Change: W412R

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: W512R

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

SMART Domains

Protein: ENSMUSP00000084405
Gene: ENSMUSG00000029228
AA Change: W512R

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: W353R

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

SMART Domains

Protein: ENSMUSP00000109159
Gene: ENSMUSG00000029228
AA Change: W353R

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: W512R

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

SMART Domains

Protein: ENSMUSP00000113035
Gene: ENSMUSG00000029228
AA Change: W512R

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: W412R

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

SMART Domains

Protein: ENSMUSP00000113837
Gene: ENSMUSG00000029228
AA Change: W412R

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: W402R

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

SMART Domains

Protein: ENSMUSP00000113565
Gene: ENSMUSG00000029228
AA Change: W402R

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

unknown
Transcript: ENSMUST00000140084
AA Change: W150R

SMART Domains

Protein: ENSMUSP00000117935
Gene: ENSMUSG00000029228
AA Change: W150R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153543
AA Change: W353R

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

SMART Domains

Protein: ENSMUSP00000121094
Gene: ENSMUSG00000029228
AA Change: W353R

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,217,457 (GRCm39)	D133G	probably damaging	Het
Abcg4	G	T	9: 44,190,616 (GRCm39)	H55Q	probably damaging	Het
Acaca	T	A	11: 84,142,116 (GRCm39)	V641E	probably benign	Het
Adam28	T	C	14: 68,875,552 (GRCm39)	I229V	probably damaging	Het
Adgrl3	T	A	5: 81,837,493 (GRCm39)	I793N	probably damaging	Het
Akr1d1	A	T	6: 37,535,336 (GRCm39)	D240V	possibly damaging	Het
Arhgef25	T	C	10: 127,018,802 (GRCm39)	D548G	probably benign	Het
Asl	A	G	5: 130,042,802 (GRCm39)		probably null	Het
Atg14	C	T	14: 47,788,771 (GRCm39)	R194Q	probably damaging	Het
BC004004	T	A	17: 29,501,166 (GRCm39)	F38L	probably damaging	Het
Btg1	T	C	10: 96,453,259 (GRCm39)	F25L	probably benign	Het
Btrc	C	T	19: 45,445,026 (GRCm39)	P35S	probably benign	Het
Calcr	T	A	6: 3,714,705 (GRCm39)	N142Y	probably damaging	Het
Ccdc138	A	G	10: 58,397,818 (GRCm39)	I553V	probably benign	Het
Ccdc198	T	A	14: 49,482,560 (GRCm39)	N52I	probably damaging	Het
Cdc42	T	A	4: 137,056,115 (GRCm39)	N132I	probably benign	Het
Ces1e	A	G	8: 93,950,716 (GRCm39)	S22P	probably benign	Het
Clmn	G	T	12: 104,748,307 (GRCm39)	D413E	probably benign	Het
Cramp1	T	C	17: 25,201,293 (GRCm39)	T730A	probably benign	Het
Dnah5	A	T	15: 28,343,784 (GRCm39)	M2395L	probably benign	Het
Ephx1	G	T	1: 180,829,488 (GRCm39)	S20Y	possibly damaging	Het
Exoc5	T	G	14: 49,289,821 (GRCm39)	E19A	probably damaging	Het
Fam120b	T	C	17: 15,623,294 (GRCm39)	L424P	probably benign	Het
Fam89a	G	A	8: 125,467,823 (GRCm39)	T163I	possibly damaging	Het
Fcrl2	G	A	3: 87,166,922 (GRCm39)	L24F	possibly damaging	Het
Fgd6	G	T	10: 93,975,715 (GRCm39)	V1377L	probably benign	Het
Glud1	T	A	14: 34,057,347 (GRCm39)	I337K	possibly damaging	Het
Gm6370	T	A	5: 146,430,736 (GRCm39)	I303N	probably benign	Het
Gm7995	T	C	14: 42,133,383 (GRCm39)	Y88H	probably damaging	Het
Gsdma3	T	C	11: 98,520,393 (GRCm39)		probably null	Het
Gsdmc2	T	C	15: 63,707,614 (GRCm39)	D60G	probably damaging	Het
Hcn1	T	A	13: 118,039,431 (GRCm39)		probably null	Het
Hectd1	A	T	12: 51,831,030 (GRCm39)	C936*	probably null	Het
Herc4	T	A	10: 63,121,433 (GRCm39)	S358T	probably benign	Het
Hk3	A	G	13: 55,158,735 (GRCm39)	C515R	probably benign	Het
Ighg1	A	G	12: 113,291,138 (GRCm39)		probably benign	Het
Iqgap3	T	A	3: 88,014,842 (GRCm39)	C853S	probably benign	Het
Irx4	G	A	13: 73,415,750 (GRCm39)	A180T	probably damaging	Het
Kif20b	A	G	19: 34,943,522 (GRCm39)	T1441A	probably benign	Het
Lifr	A	G	15: 7,215,106 (GRCm39)	K738E	possibly damaging	Het
Lmntd2	A	T	7: 140,792,531 (GRCm39)	S218T	probably damaging	Het
Lrfn3	G	T	7: 30,055,238 (GRCm39)	P569Q	possibly damaging	Het
Mamstr	A	G	7: 45,293,838 (GRCm39)	I11V	probably benign	Het
Med31	T	C	11: 72,104,975 (GRCm39)	N32S	possibly damaging	Het
Mob3c	A	T	4: 115,690,928 (GRCm39)	I173F	probably benign	Het
Morc3	A	G	16: 93,667,250 (GRCm39)		probably null	Het
Mphosph9	T	C	5: 124,437,108 (GRCm39)	K412R	probably damaging	Het
Mtcl3	A	T	10: 29,072,537 (GRCm39)	N610Y	probably damaging	Het
Mthfd1l	C	T	10: 3,957,775 (GRCm39)	P271S	probably benign	Het
Ncam1	C	T	9: 49,453,183 (GRCm39)		probably null	Het
Ncbp3	T	A	11: 72,960,578 (GRCm39)	Y279N	probably damaging	Het
Ncoa6	G	A	2: 155,248,687 (GRCm39)	T1539I	probably benign	Het
Nedd4	G	A	9: 72,647,515 (GRCm39)		probably null	Het
Neil1	A	G	9: 57,054,206 (GRCm39)	V38A	probably damaging	Het
Ngf	T	A	3: 102,427,961 (GRCm39)	F237I	probably damaging	Het
Nol3	A	G	8: 106,005,888 (GRCm39)	Q94R	possibly damaging	Het
Obox1	A	G	7: 15,290,263 (GRCm39)	N202S	probably damaging	Het
Odc1	T	A	12: 17,597,386 (GRCm39)	N29K	possibly damaging	Het
Or2b7	C	T	13: 21,739,658 (GRCm39)	R178H	probably benign	Het
Or2h15	T	C	17: 38,441,508 (GRCm39)	T192A	probably damaging	Het
Or4a69	C	T	2: 89,312,652 (GRCm39)	V276I	probably benign	Het
Or52a20	A	C	7: 103,365,914 (GRCm39)	I38L	probably benign	Het
P2rx7	T	A	5: 122,819,129 (GRCm39)	V517E	probably damaging	Het
Parm1	A	G	5: 91,741,775 (GRCm39)	T48A	possibly damaging	Het
Pcdh9	T	A	14: 94,126,164 (GRCm39)	D2V	possibly damaging	Het
Pgm3	G	T	9: 86,451,378 (GRCm39)	T92N	probably damaging	Het
Plcg2	G	T	8: 118,333,872 (GRCm39)	G882*	probably null	Het
Ptpn14	C	T	1: 189,582,997 (GRCm39)	P615S	probably damaging	Het
Ptprk	A	T	10: 28,464,928 (GRCm39)	Y1244F	probably damaging	Het
Rere	G	A	4: 150,700,510 (GRCm39)	A1162T	probably damaging	Het
Rfx2	T	C	17: 57,090,747 (GRCm39)	E391G	probably damaging	Het
Sema4c	A	G	1: 36,591,097 (GRCm39)	V414A	probably damaging	Het
Serpinb10	A	T	1: 107,468,681 (GRCm39)	N185I	probably damaging	Het
Shroom3	T	G	5: 93,098,993 (GRCm39)	M1410R	probably benign	Het
Slc13a1	A	T	6: 24,134,356 (GRCm39)	S176T	probably benign	Het
Sntb1	A	T	15: 55,506,198 (GRCm39)	Y458*	probably null	Het
Sorcs1	C	T	19: 50,220,741 (GRCm39)	V570I	probably benign	Het
Sp8	T	A	12: 118,812,805 (GRCm39)	V220E	probably damaging	Het
Spry1	C	T	3: 37,696,868 (GRCm39)	T37M	possibly damaging	Het
Sspo	A	T	6: 48,437,756 (GRCm39)	H1305L	probably benign	Het
Tbc1d22a	A	G	15: 86,381,117 (GRCm39)	D509G	possibly damaging	Het
Tmem108	A	T	9: 103,376,276 (GRCm39)	V391D	possibly damaging	Het
Tmem132d	T	A	5: 128,346,366 (GRCm39)	H52L	possibly damaging	Het
Tmem132d	T	A	5: 128,346,364 (GRCm39)	I53F	probably damaging	Het
Tnnt2	A	T	1: 135,775,496 (GRCm39)	R87*	probably null	Het
Ube3a	A	T	7: 58,893,198 (GRCm39)	M1L	probably benign	Het
Unc79	A	G	12: 103,060,592 (GRCm39)	T1119A	probably damaging	Het
Usf3	A	T	16: 44,039,942 (GRCm39)	H1474L	probably damaging	Het
Vcpip1	G	A	1: 9,817,423 (GRCm39)	T320I	probably damaging	Het
Vmn1r56	A	G	7: 5,199,443 (GRCm39)	L58P	probably damaging	Het
Wdr53	A	T	16: 32,075,796 (GRCm39)	K334*	probably null	Het
Zbtb40	T	A	4: 136,728,241 (GRCm39)	R459W	probably benign	Het
Zfc3h1	T	A	10: 115,246,547 (GRCm39)	L878Q	probably damaging	Het
Zfp286	T	C	11: 62,671,455 (GRCm39)	D206G	probably benign	Het
Zfp46	T	A	4: 136,017,792 (GRCm39)	C209S	probably damaging	Het
Zup1	G	T	10: 33,825,038 (GRCm39)	T148K	probably damaging	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
R4583:Lnx1	UTSW	5	74,771,457 (GRCm39)	missense	probably benign	0.16
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
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'- TTAAGGAACTCAACAGCGAGC -3'
(R):5'- TTCTCGGAGTCAAGCCTTGG -3'

Sequencing Primer
(F):5'- TCAACAGCGAGCTCCTAGC -3'
(R):5'- CAAGCCTTGGAATTTGCGATGC -3'

Posted On

2016-03-17