Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02422:Ltbp4'

292731

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ltbp4

Ensembl Gene

ENSMUSG00000040488

Gene Name

latent transforming growth factor beta binding protein 4

Synonyms

2310046A13Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02422

Quality Score

Status

Chromosome

Chromosomal Location

27004561-27037117 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 27019097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 1074 (P1074Q)

Ref Sequence

ENSEMBL: ENSMUSP00000104006 (fasta)

Gene Model

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

AlphaFold

Q8K4G1

Predicted Effect

probably damaging
Transcript: ENSMUST00000038618
AA Change: P1075Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037536
Gene: ENSMUSG00000040488
AA Change: P1075Q

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 damaging
Transcript: ENSMUST00000108369
AA Change: P1074Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104006
Gene: ENSMUSG00000040488
AA Change: P1074Q

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 damaging
Transcript: ENSMUST00000118583
AA Change: P1009Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113523
Gene: ENSMUSG00000040488
AA Change: P1009Q

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 damaging
Transcript: ENSMUST00000118961
AA Change: P1009Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113746
Gene: ENSMUSG00000040488
AA Change: P1009Q

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 damaging
Transcript: ENSMUST00000121175
AA Change: P1009Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113674
Gene: ENSMUSG00000040488
AA Change: P1009Q

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

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 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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019M22Rik	T	C	12: 96,013,821 (GRCm39)		noncoding transcript	Het
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Aak1	A	T	6: 86,959,598 (GRCm39)	T846S	unknown	Het
Adgrl1	A	G	8: 84,664,115 (GRCm39)	D1149G	probably damaging	Het
AI661453	C	T	17: 47,778,017 (GRCm39)		probably benign	Het
Ap4b1	T	C	3: 103,720,170 (GRCm39)	V139A	possibly damaging	Het
Arhgef16	G	A	4: 154,371,522 (GRCm39)	R224*	probably null	Het
Ash1l	T	A	3: 88,976,386 (GRCm39)		probably null	Het
Atm	A	T	9: 53,412,092 (GRCm39)	V988D	probably damaging	Het
C3	T	C	17: 57,533,823 (GRCm39)	E47G	probably damaging	Het
Cdkn2aip	G	A	8: 48,164,534 (GRCm39)	S393L	probably damaging	Het
Cep20	T	G	16: 14,118,070 (GRCm39)	D150A	probably benign	Het
Cyp2c68	A	C	19: 39,722,896 (GRCm39)	N217K	probably damaging	Het
Dapp1	A	T	3: 137,667,260 (GRCm39)	S101T	probably benign	Het
Ddx25	T	C	9: 35,462,660 (GRCm39)	I242V	probably null	Het
Dpy19l4	T	C	4: 11,265,803 (GRCm39)	N715S	possibly damaging	Het
Dync1h1	A	G	12: 110,606,644 (GRCm39)	E2511G	possibly damaging	Het
Gm9839	T	A	1: 32,558,943 (GRCm39)		probably benign	Het
Grn	A	G	11: 102,327,084 (GRCm39)		probably benign	Het
Haus5	T	C	7: 30,359,571 (GRCm39)	T196A	possibly damaging	Het
Ik	A	G	18: 36,886,313 (GRCm39)		probably null	Het
Inpp5d	T	G	1: 87,635,854 (GRCm39)	F473C	probably damaging	Het
Kif19a	C	A	11: 114,680,187 (GRCm39)	S841R	probably damaging	Het
Lipn	G	A	19: 34,046,063 (GRCm39)	C12Y	probably benign	Het
Mfap2	T	C	4: 140,741,535 (GRCm39)	S65P	probably benign	Het
Mtbp	T	C	15: 55,426,439 (GRCm39)	F127S	possibly damaging	Het
Or8k37	A	G	2: 86,469,560 (GRCm39)	F164S	probably damaging	Het
Pappa2	T	C	1: 158,764,503 (GRCm39)	D336G	probably damaging	Het
Plekhh2	A	G	17: 84,871,237 (GRCm39)		probably benign	Het
Plekhm3	A	T	1: 64,961,025 (GRCm39)	C410*	probably null	Het
Ppm1f	T	A	16: 16,735,580 (GRCm39)	H265Q	probably damaging	Het
Pramel16	T	A	4: 143,676,453 (GRCm39)	Y217F	probably benign	Het
Rasal3	T	C	17: 32,617,947 (GRCm39)	T207A	probably benign	Het
Rnf17	T	A	14: 56,719,592 (GRCm39)	N947K	probably damaging	Het
Rpl3l	C	A	17: 24,952,962 (GRCm39)	Y307*	probably null	Het
Sema4d	A	G	13: 51,857,124 (GRCm39)	S703P	probably benign	Het
Slc12a7	T	C	13: 73,954,280 (GRCm39)	M857T	probably benign	Het
Slc34a3	T	C	2: 25,122,275 (GRCm39)	D110G	probably benign	Het
Spata32	A	T	11: 103,099,706 (GRCm39)	N266K	probably benign	Het
Spata9	A	G	13: 76,141,193 (GRCm39)	I147V	probably benign	Het
Supt16	T	C	14: 52,417,000 (GRCm39)	Y326C	possibly damaging	Het
Tpx2	T	C	2: 152,715,064 (GRCm39)	I95T	probably benign	Het
Usp17ld	T	A	7: 102,899,967 (GRCm39)	M322L	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	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
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
R5002:Ltbp4	UTSW	7	27,027,110 (GRCm39)	frame shift	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

Posted On

2015-04-16