Mutagenetix > Incidental Mutation

Incidental Mutation 'R1960:Ltbp4'

318034

Institutional Source

Beutler Lab

Gene Symbol

Ltbp4

Ensembl Gene

ENSMUSG00000040488

Gene Name

latent transforming growth factor beta binding protein 4

Synonyms

2310046A13Rik

MMRRC Submission

039974-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27004561-27037117 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27028443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 273 (P273L)

Ref Sequence

ENSEMBL: ENSMUSP00000113674 (fasta)

Gene Model

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

AlphaFold

Q8K4G1

Predicted Effect

unknown
Transcript: ENSMUST00000038618
AA Change: P339L

SMART Domains

Protein: ENSMUSP00000037536
Gene: ENSMUSG00000040488
AA Change: P339L

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

unknown
Transcript: ENSMUST00000108369
AA Change: P338L

SMART Domains

Protein: ENSMUSP00000104006
Gene: ENSMUSG00000040488
AA Change: P338L

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

unknown
Transcript: ENSMUST00000118583
AA Change: P273L

SMART Domains

Protein: ENSMUSP00000113523
Gene: ENSMUSG00000040488
AA Change: P273L

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

unknown
Transcript: ENSMUST00000118961
AA Change: P273L

SMART Domains

Protein: ENSMUSP00000113746
Gene: ENSMUSG00000040488
AA Change: P273L

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

unknown
Transcript: ENSMUST00000121175
AA Change: P273L

SMART Domains

Protein: ENSMUSP00000113674
Gene: ENSMUSG00000040488
AA Change: P273L

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

Meta Mutation Damage Score

0.1680

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (95/95)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	C	T	3: 145,643,976 (GRCm39)	P55S	probably damaging	Het
Adgre4	T	C	17: 56,098,497 (GRCm39)	S136P	probably benign	Het
Aoc1l1	C	T	6: 48,952,687 (GRCm39)	T204I	probably damaging	Het
Arap1	C	A	7: 101,022,222 (GRCm39)	A8E	probably damaging	Het
Arid1a	A	T	4: 133,480,401 (GRCm39)	H174Q	possibly damaging	Het
Btbd2	A	G	10: 80,480,539 (GRCm39)	I358T	probably benign	Het
Camkk2	G	A	5: 122,875,575 (GRCm39)	R492*	probably null	Het
Capn3	T	C	2: 120,294,421 (GRCm39)	V23A	probably benign	Het
Carm1	T	G	9: 21,491,606 (GRCm39)	V225G	probably benign	Het
Ccdc113	T	A	8: 96,267,459 (GRCm39)	N141K	probably benign	Het
Ccdc60	C	A	5: 116,284,243 (GRCm39)	M298I	probably benign	Het
Celsr3	C	T	9: 108,723,016 (GRCm39)	P2801L	probably benign	Het
Clec4n	T	A	6: 123,207,505 (GRCm39)	V23E	probably damaging	Het
Cmtr2	T	G	8: 110,948,382 (GRCm39)	L231V	probably damaging	Het
Csrnp3	T	G	2: 65,853,363 (GRCm39)	V585G	probably null	Het
Ctnnd2	T	C	15: 30,647,257 (GRCm39)	S318P	probably damaging	Het
Cubn	A	T	2: 13,344,828 (GRCm39)		probably null	Het
Dgkd	C	A	1: 87,857,549 (GRCm39)	P754T	possibly damaging	Het
Dnah7a	A	G	1: 53,724,142 (GRCm39)	S108P	probably benign	Het
Dnajc24	A	G	2: 105,832,268 (GRCm39)		probably benign	Het
Dner	A	T	1: 84,423,177 (GRCm39)	S475R	probably damaging	Het
Dtnb	T	C	12: 3,831,190 (GRCm39)	L630P	probably benign	Het
Dysf	T	C	6: 84,050,885 (GRCm39)	F411L	probably benign	Het
Fbh1	G	A	2: 11,762,339 (GRCm39)	A566V	probably damaging	Het
Fbxw19	G	T	9: 109,315,004 (GRCm39)	T186K	probably benign	Het
Flacc1	A	T	1: 58,698,437 (GRCm39)	V327D	possibly damaging	Het
Gm4825	A	G	15: 85,395,245 (GRCm39)		noncoding transcript	Het
Grhl2	T	A	15: 37,336,558 (GRCm39)	V54D	probably damaging	Het
Hmcn1	T	C	1: 150,551,742 (GRCm39)	I2621V	probably benign	Het
Hmcn1	T	A	1: 150,553,127 (GRCm39)	E2521V	possibly damaging	Het
Kcng1	A	G	2: 168,104,904 (GRCm39)	V314A	probably benign	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kifc1	A	G	17: 34,103,561 (GRCm39)		probably null	Het
Klk13	T	A	7: 43,370,431 (GRCm39)	N31K	possibly damaging	Het
Klri1	T	A	6: 129,674,347 (GRCm39)	H221L	probably benign	Het
Med16	T	C	10: 79,742,929 (GRCm39)	H14R	possibly damaging	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Mrgpra2a	T	A	7: 47,076,983 (GRCm39)	I92F	probably benign	Het
Muc5b	T	C	7: 141,416,374 (GRCm39)	C3107R	possibly damaging	Het
Myo5a	T	A	9: 75,055,139 (GRCm39)	F441I	probably damaging	Het
Ndst4	T	A	3: 125,232,331 (GRCm39)	L300*	probably null	Het
Nlgn2	G	T	11: 69,718,136 (GRCm39)	D356E	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Oas1f	G	A	5: 120,994,502 (GRCm39)	C341Y	possibly damaging	Het
Olfm5	A	T	7: 103,809,619 (GRCm39)	C111S	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or2ag15	T	C	7: 106,340,601 (GRCm39)	E180G	probably damaging	Het
Or5d46	T	C	2: 88,170,545 (GRCm39)	L212P	probably damaging	Het
Or6c74	C	T	10: 129,870,187 (GRCm39)	Q231*	probably null	Het
Or6f2	A	T	7: 139,756,596 (GRCm39)	I188L	probably benign	Het
Or8b12c	A	G	9: 37,715,242 (GRCm39)	I12V	probably benign	Het
Or8g51	T	A	9: 38,609,500 (GRCm39)	H58L	probably benign	Het
Pde10a	T	C	17: 9,161,750 (GRCm39)	I477T	possibly damaging	Het
Pde4b	A	G	4: 102,454,657 (GRCm39)	E108G	probably damaging	Het
Pdgfrb	A	T	18: 61,198,855 (GRCm39)	T338S	probably benign	Het
Pgghg	A	G	7: 140,523,260 (GRCm39)	M180V	probably benign	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pot1b	A	T	17: 55,969,531 (GRCm39)	Y546N	probably damaging	Het
Rangap1	T	C	15: 81,590,704 (GRCm39)	T463A	probably benign	Het
Rap1gds1	T	C	3: 138,756,317 (GRCm39)	I13V	probably null	Het
Rbak	A	T	5: 143,160,437 (GRCm39)	Y205*	probably null	Het
Reg3b	A	T	6: 78,348,797 (GRCm39)	K31M	probably damaging	Het
Rfpl4	A	T	7: 5,118,533 (GRCm39)	Y12*	probably null	Het
Rnase6	A	G	14: 51,367,889 (GRCm39)	N94D	possibly damaging	Het
Rtn4	T	C	11: 29,686,464 (GRCm39)	L273P	probably damaging	Het
Ryr3	A	C	2: 112,624,812 (GRCm39)	F2203V	probably damaging	Het
Sae1	A	T	7: 16,102,490 (GRCm39)	D161E	possibly damaging	Het
Sema5a	T	C	15: 32,562,877 (GRCm39)	F296S	possibly damaging	Het
Sh3rf1	C	A	8: 61,837,897 (GRCm39)	P814Q	probably damaging	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Slc25a25	C	T	2: 32,310,663 (GRCm39)		probably null	Het
Slco4c1	T	A	1: 96,795,654 (GRCm39)	M135L	probably benign	Het
Slfn1	A	G	11: 83,012,579 (GRCm39)	I232V	possibly damaging	Het
Slitrk1	T	A	14: 109,149,622 (GRCm39)	N363I	probably damaging	Het
Srr	A	G	11: 74,799,542 (GRCm39)	V311A	probably damaging	Het
Tasor	T	C	14: 27,160,621 (GRCm39)	S128P	probably damaging	Het
Tasor	C	T	14: 27,201,746 (GRCm39)	H1419Y	possibly damaging	Het
Tenm1	T	C	X: 41,916,078 (GRCm39)	D402G	probably benign	Het
Topors	T	C	4: 40,261,044 (GRCm39)	R747G	unknown	Het
Trank1	A	T	9: 111,220,696 (GRCm39)	I2478F	probably damaging	Het
Trim69	A	G	2: 121,998,165 (GRCm39)	N46D	probably benign	Het
Trpm1	T	A	7: 63,879,978 (GRCm39)	L661Q	probably damaging	Het
Ttbk1	A	C	17: 46,791,150 (GRCm39)	F45V	probably damaging	Het
Ttn	T	C	2: 76,644,649 (GRCm39)	K4708R	probably damaging	Het
Unkl	A	G	17: 25,428,619 (GRCm39)		probably benign	Het
Uros	A	T	7: 133,288,735 (GRCm39)	N257K	probably benign	Het
Usp25	A	G	16: 76,873,259 (GRCm39)	Y439C	probably damaging	Het
Vgf	A	G	5: 137,061,029 (GRCm39)		probably benign	Het
Vmn2r8	A	T	5: 108,947,152 (GRCm39)	D533E	probably damaging	Het
Vps13a	A	T	19: 16,702,995 (GRCm39)	Y653N	probably damaging	Het
Zfp358	T	C	8: 3,545,742 (GRCm39)	V135A	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TTCCTGGTGGCTCACAGATG -3'
(R):5'- CATTTCGAGAGCCTCCGATC -3'

Sequencing Primer
(F):5'- TCACAGATGCAGCTGCTG -3'
(R):5'- GAGAGCCTCCGATCTTACTTACTGAG -3'

Posted On

2015-05-19