Mutagenetix > Incidental Mutation

Incidental Mutation 'R5002:Ltbp4'

389993

Institutional Source

Beutler Lab

Gene Symbol

Ltbp4

Ensembl Gene

ENSMUSG00000040488

Gene Name

latent transforming growth factor beta binding protein 4

Synonyms

2310046A13Rik

MMRRC Submission

042596-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5002 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

27004561-27037117 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GT to G at 27027110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038618] [ENSMUST00000108369] [ENSMUST00000118583] [ENSMUST00000118961] [ENSMUST00000121175]

AlphaFold

Q8K4G1

Predicted Effect

probably null
Transcript: ENSMUST00000038618

SMART Domains

Protein: ENSMUSP00000037536
Gene: ENSMUSG00000040488

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	87	100	N/A	INTRINSIC
low complexity region	112	125	N/A	INTRINSIC
EGF	151	180	2.74e-3	SMART
low complexity region	244	265	N/A	INTRINSIC
EGF_CA	356	396	3.51e-10	SMART
Pfam:TB	416	457	4.8e-15	PFAM
low complexity region	490	501	N/A	INTRINSIC
low complexity region	507	568	N/A	INTRINSIC
low complexity region	579	590	N/A	INTRINSIC
EGF	591	629	6.06e-5	SMART
EGF_CA	630	671	8.3e-12	SMART
EGF_CA	672	713	7.34e-13	SMART
EGF_CA	714	751	8.43e-13	SMART
EGF_CA	753	794	1.66e-11	SMART
EGF_CA	795	836	3.61e-12	SMART
EGF_CA	837	876	5.61e-9	SMART
EGF_CA	877	919	1.73e-9	SMART
EGF_CA	920	961	7.12e-11	SMART
EGF_CA	962	1002	3.56e-11	SMART
EGF_CA	1003	1046	1.61e-9	SMART
EGF_CA	1047	1090	2.13e-9	SMART
EGF_CA	1091	1132	1.02e-11	SMART
EGF	1136	1175	1.69e1	SMART
low complexity region	1185	1223	N/A	INTRINSIC
Pfam:TB	1234	1276	1.7e-13	PFAM
EGF_CA	1295	1337	2.72e-7	SMART
EGF_CA	1338	1379	1.36e-7	SMART
Pfam:TB	1402	1443	4.3e-14	PFAM
low complexity region	1449	1461	N/A	INTRINSIC
low complexity region	1478	1500	N/A	INTRINSIC
EGF	1578	1615	6.06e-5	SMART
EGF_CA	1616	1660	9.54e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000108369

SMART Domains

Protein: ENSMUSP00000104006
Gene: ENSMUSG00000040488

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	116	145	N/A	INTRINSIC
EGF	150	179	2.74e-3	SMART
low complexity region	243	264	N/A	INTRINSIC
EGF_CA	355	395	3.51e-10	SMART
Pfam:TB	414	456	2.5e-14	PFAM
low complexity region	489	500	N/A	INTRINSIC
low complexity region	506	567	N/A	INTRINSIC
low complexity region	578	589	N/A	INTRINSIC
EGF	590	628	6.06e-5	SMART
EGF_CA	629	670	8.3e-12	SMART
EGF_CA	671	712	7.34e-13	SMART
EGF_CA	713	750	8.43e-13	SMART
EGF_CA	752	793	1.66e-11	SMART
EGF_CA	794	835	3.61e-12	SMART
EGF_CA	836	875	5.61e-9	SMART
EGF_CA	876	918	1.73e-9	SMART
EGF_CA	919	960	7.12e-11	SMART
EGF_CA	961	1001	3.56e-11	SMART
EGF_CA	1002	1045	1.61e-9	SMART
EGF_CA	1046	1089	2.13e-9	SMART
EGF_CA	1090	1131	1.02e-11	SMART
EGF	1135	1174	1.69e1	SMART
low complexity region	1184	1222	N/A	INTRINSIC
Pfam:TB	1232	1275	2.4e-13	PFAM
EGF_CA	1294	1336	2.72e-7	SMART
EGF_CA	1337	1378	1.36e-7	SMART
Pfam:TB	1400	1442	7.6e-15	PFAM
low complexity region	1448	1460	N/A	INTRINSIC
low complexity region	1477	1499	N/A	INTRINSIC
EGF	1577	1614	6.06e-5	SMART
EGF_CA	1615	1659	9.54e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118583

SMART Domains

Protein: ENSMUSP00000113523
Gene: ENSMUSG00000040488

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	69	80	N/A	INTRINSIC
EGF	85	114	2.74e-3	SMART
low complexity region	178	199	N/A	INTRINSIC
EGF_CA	290	330	3.51e-10	SMART
Pfam:TB	349	391	2.3e-14	PFAM
low complexity region	424	435	N/A	INTRINSIC
low complexity region	441	502	N/A	INTRINSIC
low complexity region	513	524	N/A	INTRINSIC
EGF	525	563	6.06e-5	SMART
EGF_CA	564	605	8.3e-12	SMART
EGF_CA	606	647	7.34e-13	SMART
EGF_CA	648	685	8.43e-13	SMART
EGF_CA	687	728	1.66e-11	SMART
EGF_CA	729	770	3.61e-12	SMART
EGF_CA	771	810	5.61e-9	SMART
EGF_CA	811	853	1.73e-9	SMART
EGF_CA	854	895	7.12e-11	SMART
EGF_CA	896	936	3.56e-11	SMART
EGF_CA	937	980	1.61e-9	SMART
EGF_CA	981	1024	2.13e-9	SMART
EGF_CA	1025	1066	1.02e-11	SMART
EGF	1070	1109	1.69e1	SMART
low complexity region	1119	1157	N/A	INTRINSIC
Pfam:TB	1167	1210	2.2e-13	PFAM
EGF_CA	1229	1271	2.72e-7	SMART
EGF_CA	1272	1313	1.36e-7	SMART
Pfam:TB	1335	1377	7.1e-15	PFAM
low complexity region	1383	1395	N/A	INTRINSIC
low complexity region	1412	1434	N/A	INTRINSIC
EGF	1512	1549	6.06e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118961

SMART Domains

Protein: ENSMUSP00000113746
Gene: ENSMUSG00000040488

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	69	80	N/A	INTRINSIC
EGF	85	114	2.74e-3	SMART
low complexity region	178	199	N/A	INTRINSIC
EGF_CA	290	330	3.51e-10	SMART
Pfam:TB	349	391	1.6e-14	PFAM
low complexity region	424	435	N/A	INTRINSIC
low complexity region	441	502	N/A	INTRINSIC
low complexity region	513	524	N/A	INTRINSIC
EGF	525	563	6.06e-5	SMART
EGF_CA	564	605	8.3e-12	SMART
EGF_CA	606	647	7.34e-13	SMART
EGF_CA	648	685	8.43e-13	SMART
EGF_CA	687	728	1.66e-11	SMART
EGF_CA	729	770	3.61e-12	SMART
EGF_CA	771	810	5.61e-9	SMART
EGF_CA	811	853	1.73e-9	SMART
EGF_CA	854	895	7.12e-11	SMART
EGF_CA	896	936	3.56e-11	SMART
EGF_CA	937	980	1.61e-9	SMART
EGF_CA	981	1024	2.13e-9	SMART
EGF_CA	1025	1066	1.02e-11	SMART
EGF	1070	1109	1.69e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000121175

SMART Domains

Protein: ENSMUSP00000113674
Gene: ENSMUSG00000040488

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	69	80	N/A	INTRINSIC
EGF	85	114	2.74e-3	SMART
low complexity region	178	199	N/A	INTRINSIC
EGF_CA	290	330	3.51e-10	SMART
Pfam:TB	349	391	3.4e-14	PFAM
low complexity region	424	435	N/A	INTRINSIC
low complexity region	441	502	N/A	INTRINSIC
low complexity region	513	524	N/A	INTRINSIC
EGF	525	563	6.06e-5	SMART
EGF_CA	564	605	8.3e-12	SMART
EGF_CA	606	647	7.34e-13	SMART
EGF_CA	648	685	8.43e-13	SMART
EGF_CA	687	728	1.66e-11	SMART
EGF_CA	729	770	3.61e-12	SMART
EGF_CA	771	810	5.61e-9	SMART
EGF_CA	811	853	1.73e-9	SMART
EGF_CA	854	895	7.12e-11	SMART
EGF_CA	896	936	3.56e-11	SMART
EGF_CA	937	980	1.61e-9	SMART
EGF_CA	981	1024	2.13e-9	SMART
EGF_CA	1025	1066	1.02e-11	SMART
EGF	1070	1109	1.69e1	SMART
low complexity region	1119	1157	N/A	INTRINSIC
Pfam:TB	1167	1210	3.3e-13	PFAM
EGF_CA	1229	1271	2.72e-7	SMART
EGF_CA	1272	1313	1.36e-7	SMART
Pfam:TB	1335	1377	1e-14	PFAM
low complexity region	1383	1395	N/A	INTRINSIC
low complexity region	1412	1434	N/A	INTRINSIC
EGF	1512	1549	6.06e-5	SMART
EGF_CA	1550	1594	9.54e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206413

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

94% (44/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous disruption of this locus results in pulmonary emphysema, cardiomyopathy, and colon cancer. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,852,623 (GRCm39)	P736S	probably damaging	Het
Apbb2	A	G	5: 66,470,668 (GRCm39)	I523T	possibly damaging	Het
Casq1	T	A	1: 172,040,945 (GRCm39)	D281V	possibly damaging	Het
Catsperb	T	C	12: 101,486,813 (GRCm39)	F447L	probably benign	Het
Cenpe	A	T	3: 134,952,842 (GRCm39)	M1511L	probably benign	Het
Cep128	T	C	12: 91,222,497 (GRCm39)		probably null	Het
Col6a6	T	C	9: 105,663,292 (GRCm39)	T82A	probably benign	Het
Dna2	A	G	10: 62,786,621 (GRCm39)	D123G	probably damaging	Het
Ergic2	A	G	6: 148,085,656 (GRCm39)	I281T	probably benign	Het
Fcgbp	T	A	7: 27,785,528 (GRCm39)		probably null	Het
Filip1l	T	C	16: 57,391,466 (GRCm39)	Y447H	probably benign	Het
Flnb	T	A	14: 7,945,882 (GRCm38)	M2429K	probably damaging	Het
Fn1	T	A	1: 71,668,887 (GRCm39)	Q686L	possibly damaging	Het
Gm10644	T	C	8: 84,660,216 (GRCm39)	D43G	possibly damaging	Het
Gm10717	A	G	9: 3,025,532 (GRCm39)	Y39C	probably benign	Het
Gpx6	A	G	13: 21,497,858 (GRCm39)	Y43C	probably damaging	Het
Hhat	A	T	1: 192,225,498 (GRCm39)	F494I	probably benign	Het
Itga9	C	A	9: 118,492,966 (GRCm39)	S287*	probably null	Het
Lrrk1	C	A	7: 65,982,111 (GRCm39)	G177W	probably damaging	Het
Ms4a14	T	C	19: 11,281,653 (GRCm39)	I302V	probably benign	Het
Nepn	A	C	10: 52,267,850 (GRCm39)	M39L	probably benign	Het
Nfil3	C	A	13: 53,122,712 (GRCm39)	R64L	probably damaging	Het
Ociad1	T	C	5: 73,467,659 (GRCm39)	V199A	possibly damaging	Het
Or2r3	C	A	6: 42,448,906 (GRCm39)	V69L	probably benign	Het
Or8k3b	C	A	2: 86,520,429 (GRCm39)	V297L	possibly damaging	Het
Polk	A	G	13: 96,625,752 (GRCm39)	Y431H	probably damaging	Het
Prss33	C	T	17: 24,054,332 (GRCm39)		probably benign	Het
Semp2l2b	G	C	10: 21,943,716 (GRCm39)	P88R	probably damaging	Het
Slc12a7	A	G	13: 73,911,896 (GRCm39)	N4S	possibly damaging	Het
Slc29a4	A	T	5: 142,704,501 (GRCm39)	I348F	probably damaging	Het
Smarce1	T	C	11: 99,115,889 (GRCm39)	N44S	probably damaging	Het
Spast	C	T	17: 74,676,221 (GRCm39)	Q344*	probably null	Het
Stk11ip	C	A	1: 75,509,187 (GRCm39)		probably benign	Het
Tas2r131	T	C	6: 132,934,114 (GRCm39)	I232V	probably benign	Het
Tesk1	T	C	4: 43,444,573 (GRCm39)	Y126H	probably damaging	Het
Tmpo	A	G	10: 90,999,976 (GRCm39)	V164A	possibly damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vwc2l	T	G	1: 70,768,205 (GRCm39)	C43G	probably damaging	Het
Wnk1	G	A	6: 119,914,924 (GRCm39)	T1626I	probably benign	Het
Zpld2	T	A	4: 133,924,231 (GRCm39)	N438I	probably benign	Het

Other mutations in Ltbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Ltbp4	APN	7	27,028,230 (GRCm39)	missense	probably damaging	0.96
IGL00585:Ltbp4	APN	7	27,026,158 (GRCm39)	missense	probably damaging	0.98
IGL01320:Ltbp4	APN	7	27,027,784 (GRCm39)	splice site	probably benign
IGL01860:Ltbp4	APN	7	27,019,071 (GRCm39)	missense	probably damaging	1.00
IGL02026:Ltbp4	APN	7	27,026,842 (GRCm39)	nonsense	probably null
IGL02226:Ltbp4	APN	7	27,006,359 (GRCm39)	missense	probably damaging	1.00
IGL02422:Ltbp4	APN	7	27,019,097 (GRCm39)	missense	probably damaging	1.00
IGL02611:Ltbp4	APN	7	27,010,080 (GRCm39)	missense	probably damaging	1.00
IGL02892:Ltbp4	APN	7	27,010,074 (GRCm39)	missense	probably damaging	1.00
IGL02926:Ltbp4	APN	7	27,028,297 (GRCm39)	splice site	probably null
IGL02950:Ltbp4	APN	7	27,006,143 (GRCm39)	missense	probably damaging	0.99
IGL03008:Ltbp4	APN	7	27,023,789 (GRCm39)	missense	probably damaging	0.99
IGL03271:Ltbp4	APN	7	27,029,240 (GRCm39)	missense	unknown
IGL02837:Ltbp4	UTSW	7	27,013,806 (GRCm39)	missense	probably damaging	1.00
R0792:Ltbp4	UTSW	7	27,024,485 (GRCm39)	missense	probably damaging	1.00
R0980:Ltbp4	UTSW	7	27,023,587 (GRCm39)	missense	probably damaging	1.00
R1017:Ltbp4	UTSW	7	27,005,501 (GRCm39)	missense	possibly damaging	0.95
R1185:Ltbp4	UTSW	7	27,009,960 (GRCm39)	missense	probably damaging	1.00
R1185:Ltbp4	UTSW	7	27,009,960 (GRCm39)	missense	probably damaging	1.00
R1185:Ltbp4	UTSW	7	27,009,960 (GRCm39)	missense	probably damaging	1.00
R1403:Ltbp4	UTSW	7	27,028,464 (GRCm39)	missense	unknown
R1403:Ltbp4	UTSW	7	27,028,464 (GRCm39)	missense	unknown
R1448:Ltbp4	UTSW	7	27,006,002 (GRCm39)	missense	possibly damaging	0.86
R1575:Ltbp4	UTSW	7	27,022,245 (GRCm39)	missense	probably damaging	1.00
R1918:Ltbp4	UTSW	7	27,036,994 (GRCm39)	unclassified	probably benign
R1932:Ltbp4	UTSW	7	27,007,191 (GRCm39)	critical splice donor site	probably null
R1959:Ltbp4	UTSW	7	27,028,443 (GRCm39)	missense	unknown
R1960:Ltbp4	UTSW	7	27,028,443 (GRCm39)	missense	unknown
R1976:Ltbp4	UTSW	7	27,026,195 (GRCm39)	missense	probably damaging	1.00
R2060:Ltbp4	UTSW	7	27,008,378 (GRCm39)	missense	probably damaging	1.00
R2333:Ltbp4	UTSW	7	27,027,203 (GRCm39)	missense	possibly damaging	0.82
R2431:Ltbp4	UTSW	7	27,019,101 (GRCm39)	missense	possibly damaging	0.91
R3125:Ltbp4	UTSW	7	27,027,203 (GRCm39)	missense	possibly damaging	0.82
R4093:Ltbp4	UTSW	7	27,024,641 (GRCm39)	missense	possibly damaging	0.93
R4095:Ltbp4	UTSW	7	27,024,641 (GRCm39)	missense	possibly damaging	0.93
R4592:Ltbp4	UTSW	7	27,024,608 (GRCm39)	missense	probably damaging	0.96
R4610:Ltbp4	UTSW	7	27,006,125 (GRCm39)	missense	probably damaging	1.00
R4650:Ltbp4	UTSW	7	27,013,734 (GRCm39)	missense	probably damaging	1.00
R4912:Ltbp4	UTSW	7	27,005,541 (GRCm39)	nonsense	probably null
R5016:Ltbp4	UTSW	7	27,027,110 (GRCm39)	frame shift	probably null
R5216:Ltbp4	UTSW	7	27,026,736 (GRCm39)	small deletion	probably benign
R5218:Ltbp4	UTSW	7	27,026,736 (GRCm39)	small deletion	probably benign
R5219:Ltbp4	UTSW	7	27,026,746 (GRCm39)	missense	probably benign	0.01
R5219:Ltbp4	UTSW	7	27,026,736 (GRCm39)	small deletion	probably benign
R5539:Ltbp4	UTSW	7	27,027,149 (GRCm39)	missense	probably damaging	0.97
R5991:Ltbp4	UTSW	7	27,008,741 (GRCm39)	missense	probably damaging	1.00
R6082:Ltbp4	UTSW	7	27,035,105 (GRCm39)	unclassified	probably benign
R6125:Ltbp4	UTSW	7	27,027,180 (GRCm39)	missense	probably damaging	1.00
R6146:Ltbp4	UTSW	7	27,019,149 (GRCm39)	missense	probably damaging	0.99
R6156:Ltbp4	UTSW	7	27,029,587 (GRCm39)	missense	unknown
R6414:Ltbp4	UTSW	7	27,010,140 (GRCm39)	missense	probably damaging	1.00
R6563:Ltbp4	UTSW	7	27,008,488 (GRCm39)	missense	probably damaging	1.00
R6719:Ltbp4	UTSW	7	27,028,188 (GRCm39)	missense	probably damaging	0.99
R6940:Ltbp4	UTSW	7	27,008,369 (GRCm39)	missense	probably damaging	1.00
R7054:Ltbp4	UTSW	7	27,007,191 (GRCm39)	critical splice donor site	probably null
R7116:Ltbp4	UTSW	7	27,004,852 (GRCm39)	missense	probably damaging	0.99
R7326:Ltbp4	UTSW	7	27,029,180 (GRCm39)	missense	unknown
R7419:Ltbp4	UTSW	7	27,029,192 (GRCm39)	missense	unknown
R8068:Ltbp4	UTSW	7	27,023,593 (GRCm39)	missense	probably damaging	0.99
R8435:Ltbp4	UTSW	7	27,034,870 (GRCm39)	missense	unknown
R8543:Ltbp4	UTSW	7	27,024,666 (GRCm39)	missense	possibly damaging	0.84
R8897:Ltbp4	UTSW	7	27,026,119 (GRCm39)	missense	probably benign	0.09
R9103:Ltbp4	UTSW	7	27,028,186 (GRCm39)	missense	unknown
R9131:Ltbp4	UTSW	7	27,036,976 (GRCm39)	missense	unknown
R9206:Ltbp4	UTSW	7	27,022,350 (GRCm39)	missense	probably damaging	1.00
R9301:Ltbp4	UTSW	7	27,021,578 (GRCm39)	missense	probably damaging	0.98
R9302:Ltbp4	UTSW	7	27,008,481 (GRCm39)	missense	possibly damaging	0.80
X0025:Ltbp4	UTSW	7	27,025,227 (GRCm39)	missense	probably damaging	1.00
X0066:Ltbp4	UTSW	7	27,005,490 (GRCm39)	critical splice donor site	probably null
Z1088:Ltbp4	UTSW	7	27,007,217 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTAAAGAAAGAGCATCTGTCC -3'
(R):5'- GGTACACTACTCCATCCAGC -3'

Sequencing Primer
(F):5'- AAGAGCATCTGTCCAGGGTTC -3'
(R):5'- AAGCTTTGTTCCCAGCCAAGG -3'

Posted On

2016-06-06