Mutagenetix > Incidental Mutation

Incidental Mutation 'R2121:Ltbp1'

231484

Institutional Source

Beutler Lab

Gene Symbol

Ltbp1

Ensembl Gene

ENSMUSG00000001870

Gene Name

latent transforming growth factor beta binding protein 1

Synonyms

9430031G15Rik, Ltbp1L, b2b1000Clo, LTBP-1

MMRRC Submission

040125-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2121 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75312563-75699507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75617154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1031 (V1031E)

Ref Sequence

ENSEMBL: ENSMUSP00000001927 (fasta)

Gene Model

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

AlphaFold

Q8CG19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001927
AA Change: V1031E

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000001927
Gene: ENSMUSG00000001870
AA Change: V1031E

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 benign
Transcript: ENSMUST00000112514
AA Change: V660E

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108133
Gene: ENSMUSG00000001870
AA Change: V660E

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 benign
Transcript: ENSMUST00000112516
AA Change: V713E

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108135
Gene: ENSMUSG00000001870
AA Change: V713E

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 benign
Transcript: ENSMUST00000135447
AA Change: V713E

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116890
Gene: ENSMUSG00000001870
AA Change: V713E

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

Meta Mutation Damage Score

0.2250

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Adnp2	A	G	18: 80,172,385 (GRCm39)	F675L	probably benign	Het
Akna	G	A	4: 63,295,137 (GRCm39)	T1024I	probably benign	Het
Ambn	T	A	5: 88,608,617 (GRCm39)		probably benign	Het
Aox3	T	C	1: 58,191,708 (GRCm39)		probably benign	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Arhgef26	A	T	3: 62,247,704 (GRCm39)	N263Y	probably damaging	Het
Arpp21	A	G	9: 111,965,738 (GRCm39)	S375P	probably damaging	Het
Bscl2	G	T	19: 8,817,146 (GRCm39)	E25*	probably null	Het
Ccl12	T	A	11: 81,992,776 (GRCm39)	S17R	probably damaging	Het
Cdh1	A	G	8: 107,390,842 (GRCm39)	I653V	probably benign	Het
Ceacam9	T	A	7: 16,455,928 (GRCm39)	F12I	probably benign	Het
Cfap47	T	C	X: 78,553,927 (GRCm39)	I267V	probably benign	Het
Cldn23	A	G	8: 36,293,389 (GRCm39)	V33A	probably benign	Het
Cog1	T	C	11: 113,540,424 (GRCm39)	L13P	probably damaging	Het
Col20a1	G	C	2: 180,638,249 (GRCm39)	A346P	probably damaging	Het
Col6a3	T	C	1: 90,738,087 (GRCm39)	D537G	probably damaging	Het
Ctnnd2	G	A	15: 30,669,660 (GRCm39)	R423H	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dcdc2a	T	G	13: 25,303,268 (GRCm39)	S266R	possibly damaging	Het
Diaph1	A	T	18: 38,029,442 (GRCm39)	M330K	unknown	Het
Dnah5	C	T	15: 28,297,151 (GRCm39)		probably benign	Het
F13a1	T	A	13: 37,209,653 (GRCm39)	Y104F	probably benign	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fancl	G	T	11: 26,409,841 (GRCm39)		probably benign	Het
Gm10477	A	G	X: 55,570,192 (GRCm39)	K31E	probably damaging	Het
Gstm7	T	C	3: 107,834,230 (GRCm39)	M175V	probably benign	Het
Hcn4	T	C	9: 58,731,341 (GRCm39)	S183P	unknown	Het
Heatr1	T	C	13: 12,418,145 (GRCm39)	V359A	probably benign	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Ints6l	T	A	X: 55,550,228 (GRCm39)	S718T	probably benign	Het
Kctd5	T	C	17: 24,274,940 (GRCm39)	T212A	probably benign	Het
Kdm3b	T	C	18: 34,929,833 (GRCm39)		probably benign	Het
Lyst	A	G	13: 13,835,556 (GRCm39)	Y1746C	probably damaging	Het
Mageb5	A	G	X: 90,823,701 (GRCm39)	I226T	probably damaging	Het
Mdc1	C	T	17: 36,158,835 (GRCm39)	A405V	probably benign	Het
Mlc1	A	G	15: 88,847,634 (GRCm39)	Y305H	probably benign	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Muc4	A	G	16: 32,580,612 (GRCm39)	Y2474C	unknown	Het
Mybphl	A	C	3: 108,282,492 (GRCm39)	N175T	probably damaging	Het
Ncbp3	T	C	11: 72,944,304 (GRCm39)	V102A	possibly damaging	Het
Neb	A	G	2: 52,154,076 (GRCm39)	F2345S	probably damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Odad4	T	A	11: 100,457,837 (GRCm39)		probably null	Het
Or7e173	T	G	9: 19,938,797 (GRCm39)	I146L	probably benign	Het
Or8j3	T	A	2: 86,028,340 (GRCm39)	Y252F	possibly damaging	Het
Palb2	T	C	7: 121,727,004 (GRCm39)	T289A	possibly damaging	Het
Pde10a	A	T	17: 9,196,047 (GRCm39)	Q657L	probably damaging	Het
Ppp2r2a	A	T	14: 67,260,577 (GRCm39)	F234I	probably damaging	Het
Prl3c1	T	A	13: 27,383,325 (GRCm39)		probably null	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Serpina3m	A	G	12: 104,355,941 (GRCm39)	M203V	possibly damaging	Het
Slc6a21	A	T	7: 44,937,886 (GRCm39)	I726F	probably benign	Het
Spmap2l	A	T	5: 77,208,605 (GRCm39)	I378L	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tfdp2	T	C	9: 96,177,067 (GRCm39)	S75P	probably damaging	Het
Tll1	T	C	8: 64,538,591 (GRCm39)	E351G	probably benign	Het
Tmed11	G	A	5: 108,943,198 (GRCm39)		probably benign	Het
Tmem81	C	A	1: 132,435,847 (GRCm39)	Q218K	probably benign	Het
Tnfsf11	G	A	14: 78,537,333 (GRCm39)	T110I	probably benign	Het
Tub	G	A	7: 108,625,944 (GRCm39)	G232S	probably damaging	Het
Vmn2r121	A	T	X: 123,043,439 (GRCm39)		probably null	Het
Vwa5b1	T	C	4: 138,315,880 (GRCm39)	T621A	probably benign	Het
Ythdf3	T	C	3: 16,259,356 (GRCm39)	F501S	possibly damaging	Het

Other mutations in Ltbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Ltbp1	APN	17	75,532,333 (GRCm39)	missense	probably damaging	1.00
IGL00156:Ltbp1	APN	17	75,692,155 (GRCm39)	missense	probably damaging	0.97
IGL00161:Ltbp1	APN	17	75,617,147 (GRCm39)	splice site	probably benign
IGL00771:Ltbp1	APN	17	75,669,511 (GRCm39)	missense	probably damaging	1.00
IGL00822:Ltbp1	APN	17	75,458,316 (GRCm39)	missense	probably damaging	1.00
IGL01760:Ltbp1	APN	17	75,534,145 (GRCm39)	missense	probably damaging	0.97
IGL01796:Ltbp1	APN	17	75,534,240 (GRCm39)	splice site	probably benign
IGL01826:Ltbp1	APN	17	75,599,835 (GRCm39)	missense	possibly damaging	0.67
IGL02372:Ltbp1	APN	17	75,559,401 (GRCm39)	missense	probably damaging	0.99
IGL02792:Ltbp1	APN	17	75,589,989 (GRCm39)	missense	probably damaging	1.00
IGL02862:Ltbp1	APN	17	75,697,466 (GRCm39)	missense	probably damaging	1.00
IGL03095:Ltbp1	APN	17	75,589,413 (GRCm39)	missense	possibly damaging	0.67
IGL03345:Ltbp1	APN	17	75,373,154 (GRCm39)	missense	probably damaging	0.99
IGL03404:Ltbp1	APN	17	75,532,301 (GRCm39)	missense	probably damaging	0.97
Hiphop	UTSW	17	75,666,452 (GRCm39)	missense	probably damaging	0.99
Pygea	UTSW	17	75,634,223 (GRCm39)	nonsense	probably null
Twist	UTSW	17	75,617,217 (GRCm39)	missense	probably damaging	0.99
R0010:Ltbp1	UTSW	17	75,670,386 (GRCm39)	missense	probably damaging	1.00
R0010:Ltbp1	UTSW	17	75,670,386 (GRCm39)	missense	probably damaging	1.00
R0022:Ltbp1	UTSW	17	75,671,355 (GRCm39)	missense	probably damaging	1.00
R0022:Ltbp1	UTSW	17	75,671,355 (GRCm39)	missense	probably damaging	1.00
R0033:Ltbp1	UTSW	17	75,583,504 (GRCm39)	missense	possibly damaging	0.66
R0033:Ltbp1	UTSW	17	75,583,504 (GRCm39)	missense	possibly damaging	0.66
R0034:Ltbp1	UTSW	17	75,354,563 (GRCm39)	intron	probably benign
R0068:Ltbp1	UTSW	17	75,666,404 (GRCm39)	missense	probably damaging	1.00
R0068:Ltbp1	UTSW	17	75,666,404 (GRCm39)	missense	probably damaging	1.00
R0467:Ltbp1	UTSW	17	75,589,424 (GRCm39)	critical splice donor site	probably null
R0554:Ltbp1	UTSW	17	75,532,274 (GRCm39)	missense	probably damaging	0.99
R0584:Ltbp1	UTSW	17	75,670,467 (GRCm39)	missense	probably damaging	1.00
R0863:Ltbp1	UTSW	17	75,559,381 (GRCm39)	missense	probably damaging	1.00
R0991:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1084:Ltbp1	UTSW	17	75,666,420 (GRCm39)	nonsense	probably null
R1114:Ltbp1	UTSW	17	75,667,770 (GRCm39)	missense	probably benign
R1177:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1179:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1195:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1195:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1195:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1245:Ltbp1	UTSW	17	75,634,189 (GRCm39)	splice site	probably benign
R1246:Ltbp1	UTSW	17	75,692,156 (GRCm39)	nonsense	probably null
R1258:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1259:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1260:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1262:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1265:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1267:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1269:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1272:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1411:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1579:Ltbp1	UTSW	17	75,559,362 (GRCm39)	missense	probably benign	0.00
R1694:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1705:Ltbp1	UTSW	17	75,692,196 (GRCm39)	splice site	probably null
R1716:Ltbp1	UTSW	17	75,622,019 (GRCm39)	missense	probably benign	0.08
R1815:Ltbp1	UTSW	17	75,559,375 (GRCm39)	missense	probably benign	0.00
R1932:Ltbp1	UTSW	17	75,620,029 (GRCm39)	missense	probably benign	0.01
R1951:Ltbp1	UTSW	17	75,458,372 (GRCm39)	missense	probably benign	0.00
R2044:Ltbp1	UTSW	17	75,583,427 (GRCm39)	missense	probably damaging	1.00
R2118:Ltbp1	UTSW	17	75,617,154 (GRCm39)	missense	possibly damaging	0.52
R2120:Ltbp1	UTSW	17	75,617,154 (GRCm39)	missense	possibly damaging	0.52
R2122:Ltbp1	UTSW	17	75,617,154 (GRCm39)	missense	possibly damaging	0.52
R2171:Ltbp1	UTSW	17	75,598,312 (GRCm39)	missense	probably damaging	0.99
R2237:Ltbp1	UTSW	17	75,617,158 (GRCm39)	missense	probably benign	0.31
R2655:Ltbp1	UTSW	17	75,312,978 (GRCm39)	missense	possibly damaging	0.76
R2941:Ltbp1	UTSW	17	75,486,088 (GRCm39)	missense	probably damaging	1.00
R3177:Ltbp1	UTSW	17	75,666,273 (GRCm39)	splice site	probably null
R3177:Ltbp1	UTSW	17	75,583,475 (GRCm39)	missense	possibly damaging	0.65
R3277:Ltbp1	UTSW	17	75,666,273 (GRCm39)	splice site	probably null
R3277:Ltbp1	UTSW	17	75,583,475 (GRCm39)	missense	possibly damaging	0.65
R3797:Ltbp1	UTSW	17	75,669,625 (GRCm39)	missense	probably damaging	1.00
R3861:Ltbp1	UTSW	17	75,666,333 (GRCm39)	missense	possibly damaging	0.93
R3897:Ltbp1	UTSW	17	75,581,011 (GRCm39)	missense	probably damaging	1.00
R4002:Ltbp1	UTSW	17	75,617,154 (GRCm39)	missense	probably benign	0.09
R4057:Ltbp1	UTSW	17	75,617,189 (GRCm39)	missense	probably damaging	1.00
R4261:Ltbp1	UTSW	17	75,598,362 (GRCm39)	nonsense	probably null
R4375:Ltbp1	UTSW	17	75,619,992 (GRCm39)	missense	probably damaging	1.00
R4458:Ltbp1	UTSW	17	75,583,502 (GRCm39)	missense	possibly damaging	0.96
R4519:Ltbp1	UTSW	17	75,671,492 (GRCm39)	missense	probably benign	0.14
R4529:Ltbp1	UTSW	17	75,458,355 (GRCm39)	missense	probably benign	0.21
R4614:Ltbp1	UTSW	17	75,596,989 (GRCm39)	intron	probably benign
R4724:Ltbp1	UTSW	17	75,620,003 (GRCm39)	missense	probably damaging	0.99
R4756:Ltbp1	UTSW	17	75,532,199 (GRCm39)	missense	probably damaging	1.00
R4907:Ltbp1	UTSW	17	75,312,899 (GRCm39)	missense	probably benign
R4910:Ltbp1	UTSW	17	75,634,287 (GRCm39)	missense	probably damaging	1.00
R4976:Ltbp1	UTSW	17	75,628,090 (GRCm39)	critical splice donor site	probably null
R5011:Ltbp1	UTSW	17	75,373,152 (GRCm39)	missense	probably damaging	0.99
R5047:Ltbp1	UTSW	17	75,599,881 (GRCm39)	splice site	probably benign
R5259:Ltbp1	UTSW	17	75,670,357 (GRCm39)	missense	probably benign	0.03
R5438:Ltbp1	UTSW	17	75,598,321 (GRCm39)	missense	probably damaging	0.98
R5583:Ltbp1	UTSW	17	75,598,325 (GRCm39)	missense	probably benign	0.00
R5757:Ltbp1	UTSW	17	75,580,944 (GRCm39)	splice site	probably null
R5950:Ltbp1	UTSW	17	75,580,865 (GRCm39)	missense	probably damaging	1.00
R5976:Ltbp1	UTSW	17	75,597,078 (GRCm39)	missense	probably damaging	1.00
R6267:Ltbp1	UTSW	17	75,312,984 (GRCm39)	missense	possibly damaging	0.70
R6383:Ltbp1	UTSW	17	75,666,452 (GRCm39)	missense	probably damaging	0.99
R6400:Ltbp1	UTSW	17	75,458,397 (GRCm39)	missense	possibly damaging	0.62
R6861:Ltbp1	UTSW	17	75,534,187 (GRCm39)	missense	possibly damaging	0.76
R6880:Ltbp1	UTSW	17	75,628,044 (GRCm39)	missense	possibly damaging	0.77
R7168:Ltbp1	UTSW	17	75,598,361 (GRCm39)	missense	probably damaging	1.00
R7198:Ltbp1	UTSW	17	75,533,962 (GRCm39)	missense	possibly damaging	0.94
R7260:Ltbp1	UTSW	17	75,373,139 (GRCm39)	missense	probably benign	0.01
R7262:Ltbp1	UTSW	17	75,671,363 (GRCm39)	missense	probably damaging	1.00
R7340:Ltbp1	UTSW	17	75,634,223 (GRCm39)	nonsense	probably null
R7443:Ltbp1	UTSW	17	75,671,432 (GRCm39)	missense	probably damaging	1.00
R7510:Ltbp1	UTSW	17	75,659,712 (GRCm39)	missense	probably damaging	1.00
R7676:Ltbp1	UTSW	17	75,598,292 (GRCm39)	missense	possibly damaging	0.58
R7717:Ltbp1	UTSW	17	75,597,073 (GRCm39)	missense	possibly damaging	0.90
R7720:Ltbp1	UTSW	17	75,692,119 (GRCm39)	missense	probably damaging	1.00
R7799:Ltbp1	UTSW	17	75,559,351 (GRCm39)	missense	probably damaging	0.99
R7944:Ltbp1	UTSW	17	75,697,546 (GRCm39)	makesense	probably null
R7945:Ltbp1	UTSW	17	75,697,546 (GRCm39)	makesense	probably null
R7976:Ltbp1	UTSW	17	75,670,358 (GRCm39)	missense	possibly damaging	0.94
R8256:Ltbp1	UTSW	17	75,622,236 (GRCm39)	intron	probably benign
R8295:Ltbp1	UTSW	17	75,486,184 (GRCm39)	missense	probably benign	0.10
R8423:Ltbp1	UTSW	17	75,599,852 (GRCm39)	missense	probably benign
R8462:Ltbp1	UTSW	17	75,620,069 (GRCm39)	missense	probably damaging	1.00
R8677:Ltbp1	UTSW	17	75,655,753 (GRCm39)	missense	probably benign	0.00
R8742:Ltbp1	UTSW	17	75,617,217 (GRCm39)	missense	probably damaging	0.99
R8766:Ltbp1	UTSW	17	75,603,250 (GRCm39)	nonsense	probably null
R8873:Ltbp1	UTSW	17	75,486,172 (GRCm39)	missense	probably damaging	1.00
R8887:Ltbp1	UTSW	17	75,486,077 (GRCm39)	missense	probably damaging	1.00
R9100:Ltbp1	UTSW	17	75,622,103 (GRCm39)	missense	probably damaging	0.96
R9100:Ltbp1	UTSW	17	75,622,102 (GRCm39)	missense	probably benign	0.10
R9141:Ltbp1	UTSW	17	75,598,309 (GRCm39)	missense	possibly damaging	0.56
R9204:Ltbp1	UTSW	17	75,670,425 (GRCm39)	missense	probably damaging	1.00
R9292:Ltbp1	UTSW	17	75,583,436 (GRCm39)	missense	probably damaging	0.99
R9381:Ltbp1	UTSW	17	75,696,434 (GRCm39)	missense	probably damaging	1.00
R9423:Ltbp1	UTSW	17	75,597,112 (GRCm39)	missense	probably benign
R9426:Ltbp1	UTSW	17	75,598,309 (GRCm39)	missense	possibly damaging	0.56
R9448:Ltbp1	UTSW	17	75,666,455 (GRCm39)	nonsense	probably null
R9519:Ltbp1	UTSW	17	75,692,190 (GRCm39)	missense	probably damaging	1.00
R9523:Ltbp1	UTSW	17	75,697,498 (GRCm39)	missense	probably benign	0.29
R9625:Ltbp1	UTSW	17	75,486,157 (GRCm39)	missense	probably damaging	1.00
R9671:Ltbp1	UTSW	17	75,603,217 (GRCm39)	critical splice acceptor site	probably null
X0001:Ltbp1	UTSW	17	75,534,173 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TCAGCCATAGTGAATGAGGCC -3'
(R):5'- AGTTTACCTGCAGTAAGGAGC -3'

Sequencing Primer
(F):5'- CATAGTGAATGAGGCCCCCGAAG -3'
(R):5'- ACCACTCAGTTCTGCTCATGAAGG -3'

Posted On

2014-09-18