Mutagenetix > Incidental Mutation

Incidental Mutation 'R8766:Ltbp1'

667905

Institutional Source

Beutler Lab

Gene Symbol

Ltbp1

Ensembl Gene

ENSMUSG00000001870

Gene Name

latent transforming growth factor beta binding protein 1

Synonyms

b2b1000Clo, LTBP-1, 9430031G15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8766 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75005568-75392512 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 75296255 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 682 (C682*)

Ref Sequence

ENSEMBL: ENSMUSP00000116890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001927] [ENSMUST00000112514] [ENSMUST00000112516] [ENSMUST00000135447]

AlphaFold

Q8CG19

Predicted Effect

probably null
Transcript: ENSMUST00000001927
AA Change: C1000*

SMART Domains

Protein: ENSMUSP00000001927
Gene: ENSMUSG00000001870
AA Change: C1000*

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

Predicted Effect

probably null
Transcript: ENSMUST00000112514
AA Change: C629*

SMART Domains

Protein: ENSMUSP00000108133
Gene: ENSMUSG00000001870
AA Change: C629*

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
EGF	76	105	2.23e-3	SMART
Pfam:TB	240	283	9.5e-13	PFAM
EGF_CA	300	340	9.39e-11	SMART
Pfam:TB	361	400	3.1e-17	PFAM
low complexity region	468	478	N/A	INTRINSIC
EGF_CA	494	535	5.83e-7	SMART
EGF_CA	536	577	6.39e-13	SMART
EGF_CA	578	618	4.25e-9	SMART
EGF_CA	619	658	2.44e-9	SMART
EGF_CA	659	699	5.87e-12	SMART
EGF_CA	700	740	3.61e-12	SMART
EGF_CA	741	781	1.57e-12	SMART
EGF_CA	782	822	1.75e-10	SMART
EGF_CA	823	864	6.74e-12	SMART
EGF_CA	865	906	3.22e-9	SMART
EGF	910	949	2.16e1	SMART
Pfam:TB	977	1020	4.3e-20	PFAM
EGF	1047	1086	1.14e0	SMART
EGF_CA	1087	1127	2.68e-6	SMART
Pfam:TB	1154	1196	1.3e-17	PFAM
EGF	1244	1281	1e-5	SMART
EGF_CA	1282	1326	5.11e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000112516
AA Change: C682*

SMART Domains

Protein: ENSMUSP00000108135
Gene: ENSMUSG00000001870
AA Change: C682*

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
EGF	76	105	2.23e-3	SMART
Pfam:TB	240	283	9.9e-13	PFAM
EGF_CA	300	340	9.39e-11	SMART
Pfam:TB	361	402	7.6e-20	PFAM
low complexity region	521	531	N/A	INTRINSIC
EGF_CA	547	588	5.83e-7	SMART
EGF_CA	589	630	6.39e-13	SMART
EGF_CA	631	671	4.25e-9	SMART
EGF_CA	672	711	2.44e-9	SMART
EGF_CA	712	752	5.87e-12	SMART
EGF_CA	753	793	3.61e-12	SMART
EGF_CA	794	834	1.57e-12	SMART
EGF_CA	835	875	1.75e-10	SMART
EGF_CA	876	917	6.74e-12	SMART
EGF_CA	918	959	3.22e-9	SMART
EGF	963	1002	2.16e1	SMART
Pfam:TB	1030	1073	4.5e-20	PFAM
EGF	1100	1139	1.14e0	SMART
EGF_CA	1140	1180	2.68e-6	SMART
Pfam:TB	1207	1249	1.4e-17	PFAM
EGF	1297	1334	1e-5	SMART
EGF_CA	1335	1379	5.11e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000135447
AA Change: C682*

SMART Domains

Protein: ENSMUSP00000116890
Gene: ENSMUSG00000001870
AA Change: C682*

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
EGF	76	105	1.1e-5	SMART
Pfam:TB	240	283	4.3e-10	PFAM
EGF_CA	300	340	4.4e-13	SMART
Pfam:TB	361	402	3.3e-17	PFAM
low complexity region	521	531	N/A	INTRINSIC
EGF_CA	547	588	2.9e-9	SMART
EGF_CA	589	630	3e-15	SMART
EGF_CA	631	671	2.1e-11	SMART
EGF_CA	672	711	1.2e-11	SMART
EGF_CA	712	752	2.8e-14	SMART
EGF_CA	753	793	1.8e-14	SMART
EGF_CA	794	834	7.5e-15	SMART
EGF_CA	835	875	8.4e-13	SMART
EGF_CA	876	917	3.2e-14	SMART
EGF_CA	918	959	1.6e-11	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (49/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	A	14: 49,774,040	N70I	probably damaging	Het
Actr10	T	G	12: 70,954,656		probably null	Het
Amz1	A	G	5: 140,748,166	N166D	probably benign	Het
Asah2	A	G	19: 32,057,880	F15S	possibly damaging	Het
Axin2	A	G	11: 108,923,831	M182V	probably damaging	Het
Cacna1s	T	C	1: 136,075,143	L326P	probably damaging	Het
Ccdc130	C	T	8: 84,261,794	R68H	probably damaging	Het
Ccdc169	T	C	3: 55,150,824		probably null	Het
Cct8	A	T	16: 87,488,868	V234D	probably damaging	Het
Cdh19	T	C	1: 110,890,114	R633G	probably benign	Het
Clca1	A	T	3: 145,009,178		probably benign	Het
Crat	G	A	2: 30,407,063	P293S	probably benign	Het
Crybg3	G	A	16: 59,555,333	R139C	probably benign	Het
Ctbs	A	G	3: 146,459,833	N301S	possibly damaging	Het
Cyp4x1	T	C	4: 115,110,065	H438R	probably damaging	Het
Dglucy	C	A	12: 100,871,447	H616Q	probably benign	Het
Dync1i1	T	A	6: 5,767,142	L74Q	possibly damaging	Het
Epn1	T	C	7: 5,092,861	S167P	possibly damaging	Het
Fbxw28	T	C	9: 109,326,681	E341G	probably benign	Het
Gk2	T	A	5: 97,456,251	M243L	probably benign	Het
Grhl3	T	A	4: 135,573,413	E4D	probably benign	Het
Hsd17b13	T	C	5: 103,977,143	K58R	probably benign	Het
Ighd5-7	G	A	12: 113,464,528	Q9*	probably null	Het
Izumo1	G	A	7: 45,627,072	S353N	probably benign	Het
Klhl31	T	C	9: 77,650,163	S54P	possibly damaging	Het
Lonp2	T	C	8: 86,636,570	M272T	probably benign	Het
Magi2	A	G	5: 20,195,125	K52E	probably benign	Het
Nab2	C	T	10: 127,666,548		probably benign	Het
Ncapg2	T	A	12: 116,426,736	V435D	probably damaging	Het
Nid2	A	G	14: 19,752,272	D87G	probably benign	Het
Olfr461	T	C	6: 40,544,551	M143V	probably benign	Het
Olfr518	A	G	7: 108,881,246	M120T	probably benign	Het
Pamr1	T	C	2: 102,550,193	M1T	probably null	Het
Pard3b	T	C	1: 62,159,478	C242R	probably benign	Het
Pcif1	T	A	2: 164,885,426	V106E	probably benign	Het
Pitx2	T	A	3: 129,218,574	F218I	probably damaging	Het
Ppip5k1	G	T	2: 121,336,438	Y877*	probably null	Het
Prkch	A	G	12: 73,702,538	N354S	probably benign	Het
Psen2	T	A	1: 180,245,636	D40V	probably benign	Het
Rfx7	T	A	9: 72,616,739	S404T	possibly damaging	Het
Ryr2	T	A	13: 11,668,969	T3070S	probably damaging	Het
Slc24a4	A	G	12: 102,230,452	D263G	probably benign	Het
Tox	T	C	4: 6,823,047	E90G	probably damaging	Het
Unc13b	C	T	4: 43,174,722	S1850L	unknown	Het
Vmn1r5	T	A	6: 56,986,115	D258E	possibly damaging	Het
Vmn2r84	C	T	10: 130,386,372	V660M	probably damaging	Het
Zfp592	A	T	7: 81,024,605	H439L	probably benign	Het
Zfp775	A	T	6: 48,620,179	H329L	probably damaging	Het
Zswim5	T	C	4: 116,958,807	L364P	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
IGL03345:Ltbp1	APN	17	75066159	missense	probably damaging	0.99
IGL03404:Ltbp1	APN	17	75225306	missense	probably damaging	0.97
Hiphop	UTSW	17	75359457	missense	probably damaging	0.99
Pygea	UTSW	17	75327228	nonsense	probably null
Twist	UTSW	17	75310222	missense	probably damaging	0.99
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	splice site	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
R7799:Ltbp1	UTSW	17	75252356	missense	probably damaging	0.99
R7944:Ltbp1	UTSW	17	75390551	makesense	probably null
R7945:Ltbp1	UTSW	17	75390551	makesense	probably null
R7976:Ltbp1	UTSW	17	75363363	missense	possibly damaging	0.94
R8256:Ltbp1	UTSW	17	75315241	intron	probably benign
R8295:Ltbp1	UTSW	17	75179189	missense	probably benign	0.10
R8423:Ltbp1	UTSW	17	75292857	missense	probably benign
R8462:Ltbp1	UTSW	17	75313074	missense	probably damaging	1.00
R8677:Ltbp1	UTSW	17	75348758	missense	probably benign	0.00
R8742:Ltbp1	UTSW	17	75310222	missense	probably damaging	0.99
R8873:Ltbp1	UTSW	17	75179177	missense	probably damaging	1.00
R8887:Ltbp1	UTSW	17	75179082	missense	probably damaging	1.00
R9100:Ltbp1	UTSW	17	75315107	missense	probably benign	0.10
R9100:Ltbp1	UTSW	17	75315108	missense	probably damaging	0.96
R9141:Ltbp1	UTSW	17	75291314	missense	possibly damaging	0.56
R9204:Ltbp1	UTSW	17	75363430	missense	probably damaging	1.00
R9292:Ltbp1	UTSW	17	75276441	missense	probably damaging	0.99
R9381:Ltbp1	UTSW	17	75389439	missense	probably damaging	1.00
R9423:Ltbp1	UTSW	17	75290117	missense	probably benign
R9426:Ltbp1	UTSW	17	75291314	missense	possibly damaging	0.56
R9448:Ltbp1	UTSW	17	75359460	nonsense	probably null
R9519:Ltbp1	UTSW	17	75385195	missense	probably damaging	1.00
R9523:Ltbp1	UTSW	17	75390503	missense	probably benign	0.29
R9625:Ltbp1	UTSW	17	75179162	missense	probably damaging	1.00
R9671:Ltbp1	UTSW	17	75296222	critical splice acceptor site	probably null
X0001:Ltbp1	UTSW	17	75227178	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TTTGCCACTAGACCCAGAGC -3'
(R):5'- AGAACTTCATTTCCCCTGCG -3'

Sequencing Primer
(F):5'- AGAGCCCCACCTAATTATCTTC -3'
(R):5'- GCGCCAACTCATTCTCTTACATC -3'

Posted On

2021-03-08