Mutagenetix > Incidental Mutation

Incidental Mutation 'R0103:Ltb'

34510

Institutional Source

Beutler Lab

Gene Symbol

Ltb

Ensembl Gene

ENSMUSG00000024399

Gene Name

lymphotoxin B

Synonyms

lymphotoxin beta, LTbeta, p33, Tnfsf3, Tnfc

MMRRC Submission

038389-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R0103 (G1)

Quality Score

224

Status

Validated (trace)

Chromosome

Chromosomal Location

35194439-35196320 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 35195040 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025262] [ENSMUST00000025263] [ENSMUST00000167924] [ENSMUST00000173600]

AlphaFold

P41155

Predicted Effect

probably benign
Transcript: ENSMUST00000025262

SMART Domains

Protein: ENSMUSP00000025262
Gene: ENSMUSG00000024399

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
low complexity region	72	85	N/A	INTRINSIC
TNF	154	305	8.76e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000025263

SMART Domains

Protein: ENSMUSP00000025263
Gene: ENSMUSG00000024401

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC
TNF	91	235	1.59e-53	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167924

SMART Domains

Protein: ENSMUSP00000126122
Gene: ENSMUSG00000024401

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC
TNF	74	219	2.8e-49	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173510

Predicted Effect

probably benign
Transcript: ENSMUST00000173600

SMART Domains

Protein: ENSMUSP00000134706
Gene: ENSMUSG00000024399

Domain	Start	End	E-Value	Type
TNF	33	184	8.76e-42	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183646

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

99% (84/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lymphotoxin beta is a type II membrane protein of the TNF family. It anchors lymphotoxin-alpha to the cell surface through heterotrimer formation. The predominant form on the lymphocyte surface is the lymphotoxin-alpha 1/beta 2 complex (e.g. 1 molecule alpha/2 molecules beta) and this complex is the primary ligand for the lymphotoxin-beta receptor. The minor complex is lymphotoxin-alpha 2/beta 1. LTB is an inducer of the inflammatory response system and involved in normal development of lymphoid tissue. Lymphotoxin-beta isoform b is unable to complex with lymphotoxin-alpha suggesting a function for lymphotoxin-beta which is independent of lympyhotoxin-alpha. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations lack peripheral lymph nodes, Peyer's patches, splenic germinal centers and follicular dendritic cells. Mutants exhibit lymphocytosis in the circulation and peritoneal cavity with infiltrations of the lung and liver. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,273,951 (GRCm38)	R443S	probably damaging	Het
Anapc1	T	C	2: 128,680,452 (GRCm38)		probably benign	Het
Aqr	T	A	2: 114,149,016 (GRCm38)	I313F	probably damaging	Het
Arfgap3	A	T	15: 83,322,721 (GRCm38)		probably benign	Het
Asah2	G	T	19: 32,018,977 (GRCm38)	H374N	probably benign	Het
Avl9	G	T	6: 56,736,483 (GRCm38)	R242L	probably benign	Het
Ccdc106	C	A	7: 5,057,545 (GRCm38)	Q35K	probably benign	Het
Ccm2l	G	T	2: 153,067,919 (GRCm38)	E64*	probably null	Het
Cep85l	A	T	10: 53,278,174 (GRCm38)	D776E	possibly damaging	Het
Cfap52	T	A	11: 67,925,125 (GRCm38)	I611F	possibly damaging	Het
Cldn22	C	T	8: 47,824,554 (GRCm38)	T9M	probably benign	Het
Coa7	T	C	4: 108,338,141 (GRCm38)	L89P	possibly damaging	Het
Cox7a2l	A	T	17: 83,514,272 (GRCm38)	Y2N	probably damaging	Het
Ctns	A	C	11: 73,185,311 (GRCm38)	I299M	probably damaging	Het
Cyp27a1	A	C	1: 74,735,915 (GRCm38)	E301A	probably benign	Het
Cyp2b13	A	T	7: 26,088,710 (GRCm38)	K421M	probably damaging	Het
Cyp4f40	C	A	17: 32,676,309 (GRCm38)	C468*	probably null	Het
Cyp4f40	G	T	17: 32,676,308 (GRCm38)	C468F	probably damaging	Het
Dcun1d5	G	A	9: 7,188,788 (GRCm38)	C74Y	probably damaging	Het
Dennd4c	A	G	4: 86,812,446 (GRCm38)	Y860C	probably benign	Het
Dgkz	T	C	2: 91,934,205 (GRCm38)	T1028A	probably benign	Het
Dhx58	T	C	11: 100,695,270 (GRCm38)	T642A	probably damaging	Het
Dlg4	A	G	11: 70,031,193 (GRCm38)	Y87C	probably damaging	Het
Dnah6	C	T	6: 73,092,172 (GRCm38)	E2511K	probably damaging	Het
Entpd5	C	A	12: 84,396,943 (GRCm38)	E9*	probably null	Het
Fbln2	A	C	6: 91,271,550 (GRCm38)	I1066L	probably benign	Het
Fhl2	C	T	1: 43,153,221 (GRCm38)	R4H	probably benign	Het
Frmpd1	T	A	4: 45,229,884 (GRCm38)	I17K	probably damaging	Het
Galnt2l	A	G	8: 122,269,733 (GRCm38)		probably benign	Het
Gbp7	T	A	3: 142,546,538 (GRCm38)	N627K	probably benign	Het
Gnptab	A	G	10: 88,429,519 (GRCm38)	Y331C	probably damaging	Het
Hdac4	T	C	1: 91,975,644 (GRCm38)	E521G	possibly damaging	Het
Hibadh	T	A	6: 52,557,877 (GRCm38)	M173L	probably benign	Het
Iba57	C	T	11: 59,163,613 (GRCm38)	A27T	probably benign	Het
Itga1	T	C	13: 115,016,254 (GRCm38)	I211V	probably benign	Het
Keg1	A	T	19: 12,718,916 (GRCm38)	I155F	possibly damaging	Het
Krt84	T	C	15: 101,530,236 (GRCm38)	E272G	probably damaging	Het
Lrp2	C	A	2: 69,477,040 (GRCm38)	V2892L	probably benign	Het
Masp1	G	A	16: 23,458,018 (GRCm38)	P579L	probably damaging	Het
Mtor	T	A	4: 148,533,902 (GRCm38)	M1724K	probably benign	Het
Myo3a	T	G	2: 22,544,322 (GRCm38)		probably benign	Het
Myo9b	C	T	8: 71,323,849 (GRCm38)		probably benign	Het
Ncor1	G	T	11: 62,343,045 (GRCm38)	Q444K	possibly damaging	Het
Nek7	A	T	1: 138,544,242 (GRCm38)	C53*	probably null	Het
Obscn	G	T	11: 59,062,696 (GRCm38)	Y4044*	probably null	Het
Or5b105	G	A	19: 13,103,278 (GRCm38)	R3C	possibly damaging	Het
Pcdh15	A	T	10: 74,210,425 (GRCm38)	D178V	probably damaging	Het
Pcsk6	T	C	7: 65,929,097 (GRCm38)		probably benign	Het
Phxr4	T	C	9: 13,431,791 (GRCm38)		probably benign	Het
Pkhd1	T	A	1: 20,523,359 (GRCm38)	D1510V	probably benign	Het
Pkhd1l1	T	C	15: 44,597,141 (GRCm38)	C4249R	probably benign	Het
Plxnb2	A	G	15: 89,161,769 (GRCm38)	Y968H	possibly damaging	Het
Prpf39	T	C	12: 65,055,283 (GRCm38)	V378A	possibly damaging	Het
Psd2	A	G	18: 36,004,717 (GRCm38)	N455S	probably damaging	Het
Ptch2	C	A	4: 117,109,425 (GRCm38)		probably benign	Het
Rab4b	A	G	7: 27,174,502 (GRCm38)	I117T	probably benign	Het
Rad9b	A	T	5: 122,331,527 (GRCm38)	V348E	probably damaging	Het
Rcor1	T	C	12: 111,109,778 (GRCm38)		probably benign	Het
Rhoc	A	T	3: 104,791,991 (GRCm38)	E32V	possibly damaging	Het
Rnf40	T	G	7: 127,600,571 (GRCm38)	V925G	probably damaging	Het
Rptor	G	T	11: 119,884,967 (GRCm38)	R988L	probably benign	Het
Slc25a32	A	T	15: 39,099,897 (GRCm38)	Y176*	probably null	Het
Slc7a1	T	A	5: 148,352,426 (GRCm38)	K4*	probably null	Het
Ss18	A	C	18: 14,679,421 (GRCm38)	Y38D	probably damaging	Het
Syt4	T	A	18: 31,447,220 (GRCm38)		probably benign	Het
Taar4	A	T	10: 23,961,406 (GRCm38)	N305Y	probably damaging	Het
Taar7b	A	T	10: 24,000,294 (GRCm38)	Y119F	probably benign	Het
Tcaf1	G	T	6: 42,686,390 (GRCm38)	D185E	probably benign	Het
Tmem138	T	C	19: 10,574,952 (GRCm38)	N62S	possibly damaging	Het
Tnfaip2	C	T	12: 111,445,810 (GRCm38)	T215M	probably benign	Het
Tnfrsf21	C	T	17: 43,038,213 (GRCm38)	H239Y	probably benign	Het
Tnfrsf25	C	T	4: 152,116,948 (GRCm38)	P65S	possibly damaging	Het
Trp53bp1	A	T	2: 121,236,759 (GRCm38)	S495R	possibly damaging	Het
Trpv3	T	C	11: 73,293,979 (GRCm38)	F597S	probably damaging	Het
Tsc22d4	A	C	5: 137,747,116 (GRCm38)	M1L	possibly damaging	Het
Ttc39a	A	G	4: 109,421,453 (GRCm38)		probably null	Het
Ttn	T	G	2: 76,761,226 (GRCm38)	H21033P	probably damaging	Het
Ugt2a3	A	G	5: 87,336,718 (GRCm38)	V149A	possibly damaging	Het
Ush2a	T	G	1: 188,319,070 (GRCm38)	I251R	possibly damaging	Het
Vamp4	T	C	1: 162,589,539 (GRCm38)	C114R	possibly damaging	Het
Wdr33	T	C	18: 31,833,335 (GRCm38)	V135A	probably damaging	Het
Zc3h13	T	A	14: 75,330,468 (GRCm38)	V1067E	probably damaging	Het
Zcwpw1	G	A	5: 137,810,113 (GRCm38)	W274*	probably null	Het
Zfp219	T	A	14: 52,006,706 (GRCm38)	H627L	probably damaging	Het

Other mutations in Ltb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Ltb	APN	17	35,194,666 (GRCm38)	missense	possibly damaging	0.78
IGL01112:Ltb	APN	17	35,194,600 (GRCm38)	missense	probably benign	0.04
IGL02263:Ltb	APN	17	35,196,001 (GRCm38)	missense	probably damaging	1.00
IGL02983:Ltb	APN	17	35,194,670 (GRCm38)	missense	probably benign	0.15
IGL02995:Ltb	APN	17	35,195,372 (GRCm38)	splice site	probably benign
IGL03389:Ltb	APN	17	35,195,068 (GRCm38)	missense	probably benign	0.00
R0103:Ltb	UTSW	17	35,195,040 (GRCm38)	intron	probably benign
R2060:Ltb	UTSW	17	35,195,763 (GRCm38)	missense	probably damaging	0.97
R4718:Ltb	UTSW	17	35,195,337 (GRCm38)	splice site	probably null
R4823:Ltb	UTSW	17	35,195,230 (GRCm38)	missense	probably benign
R4884:Ltb	UTSW	17	35,195,258 (GRCm38)	missense	probably benign
R5231:Ltb	UTSW	17	35,195,826 (GRCm38)	missense	probably damaging	1.00
R5327:Ltb	UTSW	17	35,195,959 (GRCm38)	missense	probably damaging	1.00
R8297:Ltb	UTSW	17	35,194,679 (GRCm38)	missense	probably benign	0.00
R8344:Ltb	UTSW	17	35,195,193 (GRCm38)	missense	probably benign	0.41
R9778:Ltb	UTSW	17	35,195,930 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCAGATAACACTGCACTTGCGTCTC -3'
(R):5'- ACATAGCCAGCACTCTTCGGTCTAC -3'

Sequencing Primer
(F):5'- TCTCTGCCTGCATACATCG -3'
(R):5'- GGTCTACCAGATGCTTACCTATGAG -3'

Posted On

2013-05-09