Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03345:Ltbp1'

417412

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ltbp1

Ensembl Gene

ENSMUSG00000001870

Gene Name

latent transforming growth factor beta binding protein 1

Synonyms

b2b1000Clo, LTBP-1, 9430031G15Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03345

Quality Score

Status

Chromosome

Chromosomal Location

75005568-75392512 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75066159 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 266 (K266E)

Ref Sequence

ENSEMBL: ENSMUSP00000001927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001927]

Predicted Effect

probably damaging
Transcript: ENSMUST00000001927
AA Change: K266E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001927
Gene: ENSMUSG00000001870
AA Change: K266E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	34	49	N/A	INTRINSIC
low complexity region	58	73	N/A	INTRINSIC
low complexity region	94	109	N/A	INTRINSIC
low complexity region	149	158	N/A	INTRINSIC
EGF	184	213	9.27e-1	SMART
EGF	394	423	2.23e-3	SMART
Pfam:TB	559	601	2.4e-9	PFAM
EGF_CA	618	658	9.39e-11	SMART
Pfam:TB	680	720	1e-18	PFAM
low complexity region	839	849	N/A	INTRINSIC
EGF_CA	865	906	5.83e-7	SMART
EGF_CA	907	948	6.39e-13	SMART
EGF_CA	949	989	4.25e-9	SMART
EGF_CA	990	1029	2.44e-9	SMART
EGF_CA	1030	1070	5.87e-12	SMART
EGF_CA	1071	1111	3.61e-12	SMART
EGF_CA	1112	1152	1.57e-12	SMART
EGF_CA	1153	1193	1.75e-10	SMART
EGF_CA	1194	1235	6.74e-12	SMART
EGF_CA	1236	1277	3.22e-9	SMART
EGF	1281	1320	2.16e1	SMART
Pfam:TB	1349	1391	5.6e-17	PFAM
EGF	1418	1457	1.14e0	SMART
EGF_CA	1458	1498	2.68e-6	SMART
Pfam:TB	1526	1567	4.2e-15	PFAM
EGF	1615	1652	1e-5	SMART
EGF_CA	1653	1697	5.11e-12	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	G	3: 108,492,016	V86A	possibly damaging	Het
9130409I23Rik	A	T	1: 181,055,372	H233L	probably benign	Het
Abcc3	A	G	11: 94,359,337	W987R	probably damaging	Het
Adcy5	T	C	16: 35,248,814	V384A	probably benign	Het
Akap12	T	C	10: 4,356,697	V1169A	probably benign	Het
Atp8a2	T	C	14: 59,774,011	T950A	probably benign	Het
Avil	T	C	10: 127,008,957		probably benign	Het
Bccip	A	G	7: 133,709,491	D45G	probably benign	Het
Bcl9	A	G	3: 97,209,192	S729P	probably benign	Het
C3	T	A	17: 57,219,585	I799F	probably damaging	Het
Cstf2	C	T	X: 134,061,045	R80C	probably damaging	Het
Dock7	A	G	4: 98,984,819	F1130S	possibly damaging	Het
Fat2	C	T	11: 55,282,361	D2509N	probably damaging	Het
Fut10	T	C	8: 31,260,041	S452P	probably damaging	Het
Gabrb1	T	A	5: 72,136,565	M394K	possibly damaging	Het
Gkn3	T	A	6: 87,388,816	E7V	probably null	Het
Gpld1	G	A	13: 24,987,024	G803R	probably damaging	Het
Hipk2	A	G	6: 38,748,002		probably benign	Het
Kcnu1	A	T	8: 25,881,293		probably benign	Het
Kidins220	A	T	12: 25,003,045	S445C	probably damaging	Het
Myh4	A	T	11: 67,255,478	D1454V	probably damaging	Het
Nrf1	A	C	6: 30,089,948	T9P	probably damaging	Het
Nt5dc1	T	C	10: 34,324,462	E187G	probably benign	Het
Obscn	T	A	11: 58,995,482		probably benign	Het
Pkd2l2	T	C	18: 34,425,089	Y274H	probably damaging	Het
Rgs8	A	G	1: 153,692,810	K149R	probably benign	Het
Rinl	A	G	7: 28,796,797	E401G	possibly damaging	Het
Rsbn1	A	G	3: 103,915,150	R234G	possibly damaging	Het
Slc6a3	A	G	13: 73,571,514	D554G	probably benign	Het
Slc7a2	A	G	8: 40,916,493	S646G	probably benign	Het
Syt5	A	G	7: 4,542,207	V231A	probably benign	Het
Timeless	T	G	10: 128,247,586	S695A	probably benign	Het
Tmem131l	G	A	3: 83,961,589	P160S	probably damaging	Het
Tspear	C	A	10: 77,874,882		probably null	Het
Ubn1	T	A	16: 5,081,964	H1113Q	probably damaging	Het
Vmn2r49	T	G	7: 9,984,694	K481T	probably damaging	Het
Xdh	T	C	17: 73,906,032	N872S	probably damaging	Het

Other mutations in Ltbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Ltbp1	APN	17	75225338	missense	probably damaging	1.00
IGL00156:Ltbp1	APN	17	75385160	missense	probably damaging	0.97
IGL00161:Ltbp1	APN	17	75310152	splice site	probably benign
IGL00771:Ltbp1	APN	17	75362516	missense	probably damaging	1.00
IGL00822:Ltbp1	APN	17	75151321	missense	probably damaging	1.00
IGL01760:Ltbp1	APN	17	75227150	missense	probably damaging	0.97
IGL01796:Ltbp1	APN	17	75227245	splice site	probably benign
IGL01826:Ltbp1	APN	17	75292840	missense	possibly damaging	0.67
IGL02372:Ltbp1	APN	17	75252406	missense	probably damaging	0.99
IGL02792:Ltbp1	APN	17	75282994	missense	probably damaging	1.00
IGL02862:Ltbp1	APN	17	75390471	missense	probably damaging	1.00
IGL03095:Ltbp1	APN	17	75282418	missense	possibly damaging	0.67
IGL03404:Ltbp1	APN	17	75225306	missense	probably damaging	0.97
R0010:Ltbp1	UTSW	17	75363391	missense	probably damaging	1.00
R0010:Ltbp1	UTSW	17	75363391	missense	probably damaging	1.00
R0022:Ltbp1	UTSW	17	75364360	missense	probably damaging	1.00
R0022:Ltbp1	UTSW	17	75364360	missense	probably damaging	1.00
R0033:Ltbp1	UTSW	17	75276509	missense	possibly damaging	0.66
R0033:Ltbp1	UTSW	17	75276509	missense	possibly damaging	0.66
R0034:Ltbp1	UTSW	17	75047568	intron	probably benign
R0068:Ltbp1	UTSW	17	75359409	missense	probably damaging	1.00
R0068:Ltbp1	UTSW	17	75359409	missense	probably damaging	1.00
R0467:Ltbp1	UTSW	17	75282429	critical splice donor site	probably null
R0554:Ltbp1	UTSW	17	75225279	missense	probably damaging	0.99
R0584:Ltbp1	UTSW	17	75363472	missense	probably damaging	1.00
R0863:Ltbp1	UTSW	17	75252386	missense	probably damaging	1.00
R0991:Ltbp1	UTSW	17	75225285	missense	possibly damaging	0.75
R1084:Ltbp1	UTSW	17	75359425	nonsense	probably null
R1114:Ltbp1	UTSW	17	75360775	missense	probably benign
R1177:Ltbp1	UTSW	17	75225285	missense	possibly damaging	0.75
R1179:Ltbp1	UTSW	17	75225285	missense	possibly damaging	0.75
R1195:Ltbp1	UTSW	17	75225285	missense	possibly damaging	0.75
R1195:Ltbp1	UTSW	17	75225285	missense	possibly damaging	0.75
R1195:Ltbp1	UTSW	17	75225285	missense	possibly damaging	0.75
R1245:Ltbp1	UTSW	17	75327194	splice site	probably benign
R1246:Ltbp1	UTSW	17	75385161	nonsense	probably null
R1258:Ltbp1	UTSW	17	75225285	missense	possibly damaging	0.75
R1259:Ltbp1	UTSW	17	75225285	missense	possibly damaging	0.75
R1260:Ltbp1	UTSW	17	75225285	missense	possibly damaging	0.75
R1262:Ltbp1	UTSW	17	75225285	missense	possibly damaging	0.75
R1265:Ltbp1	UTSW	17	75225285	missense	possibly damaging	0.75
R1267:Ltbp1	UTSW	17	75225285	missense	possibly damaging	0.75
R1269:Ltbp1	UTSW	17	75225285	missense	possibly damaging	0.75
R1272:Ltbp1	UTSW	17	75225285	missense	possibly damaging	0.75
R1411:Ltbp1	UTSW	17	75225285	missense	possibly damaging	0.75
R1579:Ltbp1	UTSW	17	75252367	missense	probably benign	0.00
R1694:Ltbp1	UTSW	17	75225285	missense	possibly damaging	0.75
R1705:Ltbp1	UTSW	17	75385201	splice site	probably null
R1716:Ltbp1	UTSW	17	75315024	missense	probably benign	0.08
R1815:Ltbp1	UTSW	17	75252380	missense	probably benign	0.00
R1932:Ltbp1	UTSW	17	75313034	missense	probably benign	0.01
R1951:Ltbp1	UTSW	17	75151377	missense	probably benign	0.00
R2044:Ltbp1	UTSW	17	75276432	missense	probably damaging	1.00
R2118:Ltbp1	UTSW	17	75310159	missense	possibly damaging	0.52
R2120:Ltbp1	UTSW	17	75310159	missense	possibly damaging	0.52
R2121:Ltbp1	UTSW	17	75310159	missense	possibly damaging	0.52
R2122:Ltbp1	UTSW	17	75310159	missense	possibly damaging	0.52
R2171:Ltbp1	UTSW	17	75291317	missense	probably damaging	0.99
R2237:Ltbp1	UTSW	17	75310163	missense	probably benign	0.31
R2655:Ltbp1	UTSW	17	75005983	missense	possibly damaging	0.76
R2941:Ltbp1	UTSW	17	75179093	missense	probably damaging	1.00
R3177:Ltbp1	UTSW	17	75276480	missense	possibly damaging	0.65
R3177:Ltbp1	UTSW	17	75359278	splice site	probably null
R3277:Ltbp1	UTSW	17	75276480	missense	possibly damaging	0.65
R3277:Ltbp1	UTSW	17	75359278	splice site	probably null
R3797:Ltbp1	UTSW	17	75362630	missense	probably damaging	1.00
R3861:Ltbp1	UTSW	17	75359338	missense	possibly damaging	0.93
R3897:Ltbp1	UTSW	17	75274016	missense	probably damaging	1.00
R4002:Ltbp1	UTSW	17	75310159	missense	probably benign	0.09
R4057:Ltbp1	UTSW	17	75310194	missense	probably damaging	1.00
R4261:Ltbp1	UTSW	17	75291367	nonsense	probably null
R4375:Ltbp1	UTSW	17	75312997	missense	probably damaging	1.00
R4458:Ltbp1	UTSW	17	75276507	missense	possibly damaging	0.96
R4519:Ltbp1	UTSW	17	75364497	missense	probably benign	0.14
R4529:Ltbp1	UTSW	17	75151360	missense	probably benign	0.21
R4614:Ltbp1	UTSW	17	75289994	intron	probably benign
R4724:Ltbp1	UTSW	17	75313008	missense	probably damaging	0.99
R4756:Ltbp1	UTSW	17	75225204	missense	probably damaging	1.00
R4907:Ltbp1	UTSW	17	75005904	missense	probably benign
R4910:Ltbp1	UTSW	17	75327292	missense	probably damaging	1.00
R4976:Ltbp1	UTSW	17	75321095	critical splice donor site	probably null
R5011:Ltbp1	UTSW	17	75066157	missense	probably damaging	0.99
R5047:Ltbp1	UTSW	17	75292886	splice site	probably benign
R5259:Ltbp1	UTSW	17	75363362	missense	probably benign	0.03
R5438:Ltbp1	UTSW	17	75291326	missense	probably damaging	0.98
R5583:Ltbp1	UTSW	17	75291330	missense	probably benign	0.00
R5757:Ltbp1	UTSW	17	75273949	synonymous	probably null
R5950:Ltbp1	UTSW	17	75273870	missense	probably damaging	1.00
R5976:Ltbp1	UTSW	17	75290083	missense	probably damaging	1.00
R6267:Ltbp1	UTSW	17	75005989	missense	possibly damaging	0.70
R6383:Ltbp1	UTSW	17	75359457	missense	probably damaging	0.99
R6400:Ltbp1	UTSW	17	75151402	missense	possibly damaging	0.62
R6861:Ltbp1	UTSW	17	75227192	missense	possibly damaging	0.76
R6880:Ltbp1	UTSW	17	75321049	missense	possibly damaging	0.77
R7168:Ltbp1	UTSW	17	75291366	missense	probably damaging	1.00
R7198:Ltbp1	UTSW	17	75226967	missense	possibly damaging	0.94
R7260:Ltbp1	UTSW	17	75066144	missense	probably benign	0.01
R7262:Ltbp1	UTSW	17	75364368	missense	probably damaging	1.00
R7340:Ltbp1	UTSW	17	75327228	nonsense	probably null
R7443:Ltbp1	UTSW	17	75364437	missense	probably damaging	1.00
R7510:Ltbp1	UTSW	17	75352717	missense	probably damaging	1.00
R7676:Ltbp1	UTSW	17	75291297	missense	possibly damaging	0.58
R7717:Ltbp1	UTSW	17	75290078	missense	possibly damaging	0.90
R7720:Ltbp1	UTSW	17	75385124	missense	probably damaging	1.00
X0001:Ltbp1	UTSW	17	75227178	missense	probably benign	0.26

Posted On

2016-08-02