Mutagenetix > Incidental Mutation

Incidental Mutation 'R2118:Ltbp1'

231241

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

040122-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2118 (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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (90/90)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	C	11: 83,331,190 (GRCm39)	S31P	possibly damaging	Het
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Abca13	T	C	11: 9,259,013 (GRCm39)		probably benign	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Abi3bp	T	C	16: 56,298,227 (GRCm39)		probably benign	Het
Adamts8	T	C	9: 30,854,359 (GRCm39)	F76S	probably damaging	Het
Agpat3	T	C	10: 78,113,918 (GRCm39)	R257G	probably damaging	Het
Ahctf1	C	A	1: 179,597,017 (GRCm39)	R43L	probably damaging	Het
AI593442	T	C	9: 52,588,993 (GRCm39)	T195A	probably benign	Het
Aipl1	A	T	11: 71,920,195 (GRCm39)	L291Q	possibly damaging	Het
Ambn	T	A	5: 88,608,617 (GRCm39)		probably benign	Het
Arap2	G	A	5: 62,864,028 (GRCm39)	T532I	probably damaging	Het
Arg1	T	C	10: 24,796,621 (GRCm39)	N69D	possibly damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Asb4	A	T	6: 5,390,687 (GRCm39)	T27S	probably benign	Het
Ash1l	C	G	3: 88,892,602 (GRCm39)	Q1494E	possibly damaging	Het
Car12	T	C	9: 66,621,174 (GRCm39)	V15A	probably benign	Het
Cdc20b	A	G	13: 113,215,232 (GRCm39)	I267V	probably benign	Het
Cdh1	A	G	8: 107,390,842 (GRCm39)	I653V	probably benign	Het
Cenpe	T	A	3: 134,952,645 (GRCm39)	M1445K	possibly damaging	Het
Cfap43	T	C	19: 47,758,877 (GRCm39)	E932G	probably damaging	Het
Cfhr1	G	C	1: 139,478,642 (GRCm39)	Q243E	probably benign	Het
Cnih2	C	A	19: 5,148,276 (GRCm39)	A6S	possibly damaging	Het
Cntnap1	G	T	11: 101,079,483 (GRCm39)	M1240I	probably benign	Het
Cntrl	T	C	2: 35,051,977 (GRCm39)	S1050P	probably benign	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dbx2	A	C	15: 95,522,681 (GRCm39)	L342R	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dnajb2	T	C	1: 75,214,121 (GRCm39)	W30R	probably damaging	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fancd2	A	G	6: 113,537,035 (GRCm39)		probably benign	Het
Fbxw14	T	C	9: 109,103,692 (GRCm39)		probably benign	Het
Gimap4	G	T	6: 48,667,905 (GRCm39)	C92F	probably benign	Het
Gm10033	A	C	8: 69,824,942 (GRCm39)		noncoding transcript	Het
Gm5828	A	G	1: 16,840,199 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,603,680 (GRCm39)	V186A	probably damaging	Het
Gnptab	T	C	10: 88,272,260 (GRCm39)	S967P	probably benign	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Il1rap	A	T	16: 26,529,315 (GRCm39)	H379L	probably damaging	Het
Ints12	T	C	3: 132,814,921 (GRCm39)	V376A	probably damaging	Het
Kalrn	C	T	16: 34,152,600 (GRCm39)	S309N	possibly damaging	Het
Kel	T	A	6: 41,666,234 (GRCm39)	I471L	probably benign	Het
Klhl25	T	C	7: 75,516,480 (GRCm39)	V462A	probably damaging	Het
Ksr1	A	T	11: 78,936,019 (GRCm39)	M77K	probably benign	Het
Leo1	T	A	9: 75,353,094 (GRCm39)	N212K	probably damaging	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Mast4	A	G	13: 102,890,713 (GRCm39)	V855A	probably damaging	Het
Mdga2	T	A	12: 66,915,526 (GRCm39)	E43V	probably damaging	Het
Mmaa	A	T	8: 79,994,588 (GRCm39)	L406*	probably null	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Nlrp12	A	T	7: 3,290,079 (GRCm39)	N144K	probably damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Or4f61	C	A	2: 111,922,675 (GRCm39)	V124L	probably benign	Het
Or5h18	A	G	16: 58,848,178 (GRCm39)	F31L	possibly damaging	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pappa2	T	C	1: 158,684,836 (GRCm39)	T768A	probably damaging	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Ppp1r13l	A	G	7: 19,105,346 (GRCm39)	M373V	possibly damaging	Het
Prss37	G	A	6: 40,492,294 (GRCm39)	R186*	probably null	Het
Psg16	C	A	7: 16,824,548 (GRCm39)	H111N	probably benign	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Rai14	A	G	15: 10,575,252 (GRCm39)	F569L	probably benign	Het
Rbpms2	T	A	9: 65,558,229 (GRCm39)	D116E	probably damaging	Het
Rgs20	A	G	1: 4,987,113 (GRCm39)		probably benign	Het
Rnf114	T	C	2: 167,352,803 (GRCm39)	L101P	probably damaging	Het
Rnf168	T	G	16: 32,097,036 (GRCm39)	L37R	probably damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Slc2a13	A	G	15: 91,400,679 (GRCm39)	V181A	probably damaging	Het
Spag17	A	G	3: 99,956,556 (GRCm39)	E884G	possibly damaging	Het
Sycn	T	C	7: 28,240,713 (GRCm39)	S127P	probably damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tas2r117	T	A	6: 132,780,129 (GRCm39)	I89K	probably damaging	Het
Tep1	C	A	14: 51,093,029 (GRCm39)		probably null	Het
Tex14	T	C	11: 87,410,569 (GRCm39)		probably benign	Het
Tll1	T	C	8: 64,538,591 (GRCm39)	E351G	probably benign	Het
Tmem44	T	A	16: 30,366,262 (GRCm39)	K55*	probably null	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Vmn1r200	C	T	13: 22,579,353 (GRCm39)	T43I	probably damaging	Het
Wars2	T	C	3: 99,123,883 (GRCm39)	V248A	probably benign	Het
Wfdc6b	C	T	2: 164,459,363 (GRCm39)	R142C	probably benign	Het
Zfp729a	A	T	13: 67,769,613 (GRCm39)		probably null	Het
Zfp759	C	A	13: 67,287,578 (GRCm39)		probably benign	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
R2120:Ltbp1	UTSW	17	75,617,154 (GRCm39)	missense	possibly damaging	0.52
R2121: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'- CAAGTTTACCTGCAGTAAGGAGC -3'

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

Posted On

2014-09-18