Mutagenetix > Incidental Mutation

Incidental Mutation 'R6383:Ltbp1'

515474

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

044532-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6383 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75312563-75699507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75666452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1382 (V1382I)

Ref Sequence

ENSEMBL: ENSMUSP00000001927 (fasta)

Gene Model

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

AlphaFold

Q8CG19

Predicted Effect

probably damaging
Transcript: ENSMUST00000001927
AA Change: V1382I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001927
Gene: ENSMUSG00000001870
AA Change: V1382I

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

possibly damaging
Transcript: ENSMUST00000112514
AA Change: V1011I

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108133
Gene: ENSMUSG00000001870
AA Change: V1011I

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

possibly damaging
Transcript: ENSMUST00000112516
AA Change: V1064I

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108135
Gene: ENSMUSG00000001870
AA Change: V1064I

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

Meta Mutation Damage Score

0.0692

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

97% (73/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,286,343 (GRCm39)	M2497K	probably benign	Het
Abtb2	C	T	2: 103,397,721 (GRCm39)	T217I	probably damaging	Het
Adam29	T	A	8: 56,324,543 (GRCm39)	N637I	probably damaging	Het
Adgb	T	A	10: 10,325,772 (GRCm39)	E59V	probably damaging	Het
Adh7	C	T	3: 137,933,778 (GRCm39)	R312C	probably benign	Het
Adprh	A	G	16: 38,267,814 (GRCm39)	I157T	probably damaging	Het
Ap2b1	T	C	11: 83,237,651 (GRCm39)	S572P	probably damaging	Het
Asic1	T	C	15: 99,596,761 (GRCm39)	L519P	probably damaging	Het
Atp2a2	G	C	5: 122,639,712 (GRCm39)	L13V	probably benign	Het
Bst2	A	T	8: 71,989,932 (GRCm39)	I47N	possibly damaging	Het
Cacng6	G	A	7: 3,473,509 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,957,289 (GRCm39)	E1849G	probably damaging	Het
Cep295	T	A	9: 15,244,050 (GRCm39)	T213S	probably damaging	Het
Chia1	A	G	3: 106,039,127 (GRCm39)	T406A	probably benign	Het
Chmp4c	G	T	3: 10,432,277 (GRCm39)	K62N	probably damaging	Het
Cldn15	A	G	5: 136,996,979 (GRCm39)	T7A	probably benign	Het
Cmpk2	T	A	12: 26,528,019 (GRCm39)	M412K	probably benign	Het
Cnnm1	T	C	19: 43,453,705 (GRCm39)		probably null	Het
Cubn	A	C	2: 13,432,646 (GRCm39)		probably null	Het
Dop1b	T	C	16: 93,579,136 (GRCm39)	V1668A	possibly damaging	Het
Erg28	T	A	12: 85,863,203 (GRCm39)	Y77F	probably damaging	Het
F830045P16Rik	C	T	2: 129,378,358 (GRCm39)	A9T	probably benign	Het
Gli3	A	G	13: 15,898,140 (GRCm39)	D740G	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gpat3	A	T	5: 101,041,010 (GRCm39)	M357L	probably benign	Het
Gpr179	A	G	11: 97,227,973 (GRCm39)	V1394A	possibly damaging	Het
Grn	T	A	11: 102,327,621 (GRCm39)		probably benign	Het
H2-Q6	G	A	17: 35,647,359 (GRCm39)		probably null	Het
Igsf3	A	G	3: 101,342,964 (GRCm39)	T514A	probably benign	Het
Il1r1	A	G	1: 40,352,495 (GRCm39)	D558G	possibly damaging	Het
Irx4	T	C	13: 73,415,832 (GRCm39)	M207T	possibly damaging	Het
Kap	T	C	6: 133,828,920 (GRCm39)	I54V	probably benign	Het
Kdm2b	G	A	5: 123,072,841 (GRCm39)	R340C	probably damaging	Het
Lipo3	T	A	19: 33,533,831 (GRCm39)	M334L	probably benign	Het
Lmbrd1	C	T	1: 24,745,115 (GRCm39)	L152F	probably damaging	Het
Map3k4	C	T	17: 12,468,470 (GRCm39)	D1008N	possibly damaging	Het
Mcf2l	T	C	8: 12,929,912 (GRCm39)		probably benign	Het
Mecom	T	G	3: 30,051,875 (GRCm39)	D180A	probably damaging	Het
Meis1	T	C	11: 18,891,741 (GRCm39)	D269G	probably benign	Het
Myh7	A	C	14: 55,226,351 (GRCm39)	S430A	probably benign	Het
Myo1h	A	G	5: 114,474,325 (GRCm39)	I439V	probably damaging	Het
Nat1	T	C	8: 67,944,134 (GRCm39)	V170A	possibly damaging	Het
Nlrp12	A	G	7: 3,282,673 (GRCm39)	L742P	probably damaging	Het
Nlrp4c	A	G	7: 6,069,052 (GRCm39)	T318A	probably benign	Het
Or4d10	T	A	19: 12,051,727 (GRCm39)	I90F	probably damaging	Het
Or4k47	T	A	2: 111,451,531 (GRCm39)	N296I	probably benign	Het
Or51ai2	A	G	7: 103,587,030 (GRCm39)	I148V	probably benign	Het
Or8g33	G	T	9: 39,337,530 (GRCm39)	T279N	probably damaging	Het
Or8g35	A	T	9: 39,381,926 (GRCm39)	L32Q	probably damaging	Het
Otop3	A	G	11: 115,235,898 (GRCm39)	E529G	probably damaging	Het
Parp6	T	C	9: 59,531,222 (GRCm39)	Y35H	probably damaging	Het
Pcdhb4	A	C	18: 37,441,074 (GRCm39)	D128A	probably damaging	Het
Phldb2	C	T	16: 45,569,113 (GRCm39)	D1249N	probably damaging	Het
Pramel30	A	T	4: 144,059,717 (GRCm39)	*476L	probably null	Het
Ptpn12	T	A	5: 21,192,466 (GRCm39)	K765*	probably null	Het
Ptprb	T	A	10: 116,182,912 (GRCm39)	Y1529*	probably null	Het
Ptprc	A	T	1: 138,006,189 (GRCm39)	Y798N	possibly damaging	Het
Sdk2	G	A	11: 113,723,091 (GRCm39)	T1300I	probably damaging	Het
Slc28a2b	T	C	2: 122,355,288 (GRCm39)	I555T	probably benign	Het
Sptbn2	G	A	19: 4,782,524 (GRCm39)	V487I	possibly damaging	Het
Sptbn5	A	G	2: 119,876,750 (GRCm39)		probably benign	Het
Srpk1	A	G	17: 28,809,036 (GRCm39)	S648P	probably damaging	Het
Stard9	T	C	2: 120,496,888 (GRCm39)		probably null	Het
Tmem135	A	T	7: 88,793,878 (GRCm39)	I388N	probably damaging	Het
Top3a	A	T	11: 60,640,285 (GRCm39)	I446N	probably benign	Het
Trpv1	T	C	11: 73,136,862 (GRCm39)	S482P	probably damaging	Het
Ugt3a1	C	T	15: 9,306,541 (GRCm39)	A230V	probably benign	Het
Vmn2r15	A	C	5: 109,441,092 (GRCm39)	Y255*	probably null	Het
Vmn2r60	A	G	7: 41,765,895 (GRCm39)	M1V	probably null	Het
Vmn2r87	A	G	10: 130,314,869 (GRCm39)	V239A	probably damaging	Het
Vwce	T	A	19: 10,636,956 (GRCm39)	C679*	probably null	Het
Zfp385b	C	T	2: 77,246,185 (GRCm39)	A281T	probably benign	Het
Zfp398	T	G	6: 47,843,529 (GRCm39)	L395W	probably damaging	Het
Zfp442	C	T	2: 150,293,321 (GRCm39)		probably null	Het
Zfp606	A	G	7: 12,226,871 (GRCm39)	S331G	probably benign	Het
Zfp882	A	G	8: 72,668,484 (GRCm39)	H437R	probably 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
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
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'- ATTCAGGTGTGGATCGTCAG -3'
(R):5'- CAACAAAGCCTGGCTGTAATAG -3'

Sequencing Primer
(F):5'- CAGGTGTGGATCGTCAGCCTAG -3'
(R):5'- TGTAATAGCACATCCTATGACAGAC -3'

Posted On

2018-05-04