Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02792:Ltbp1'

359803

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ltbp1

Ensembl Gene

ENSMUSG00000001870

Gene Name

latent transforming growth factor beta binding protein 1

Synonyms

9430031G15Rik, Ltbp1L, b2b1000Clo, LTBP-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02792

Quality Score

Status

Chromosome

Chromosomal Location

75312563-75699507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75589989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 539 (V539M)

Ref Sequence

ENSEMBL: ENSMUSP00000116890 (fasta)

Gene Model

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

AlphaFold

Q8CG19

Predicted Effect

probably damaging
Transcript: ENSMUST00000001927
AA Change: V857M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001927
Gene: ENSMUSG00000001870
AA Change: V857M

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 damaging
Transcript: ENSMUST00000112514
AA Change: V486M

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108133
Gene: ENSMUSG00000001870
AA Change: V486M

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: V539M

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108135
Gene: ENSMUSG00000001870
AA Change: V539M

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 damaging
Transcript: ENSMUST00000135447
AA Change: V539M

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

SMART Domains

Protein: ENSMUSP00000116890
Gene: ENSMUSG00000001870
AA Change: V539M

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

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 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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	A	17: 48,401,107 (GRCm39)	V131M	probably benign	Het
Abca6	A	T	11: 110,079,507 (GRCm39)	C1216S	probably damaging	Het
Acly	T	C	11: 100,369,236 (GRCm39)	K1018E	probably damaging	Het
Acsl5	G	A	19: 55,282,163 (GRCm39)		probably null	Het
Adgrb1	C	A	15: 74,419,471 (GRCm39)	L771I	probably damaging	Het
Adh7	A	T	3: 137,929,498 (GRCm39)	K89I	probably damaging	Het
Adora2b	A	T	11: 62,156,309 (GRCm39)	I253F	possibly damaging	Het
Akna	G	A	4: 63,295,943 (GRCm39)	P975S	possibly damaging	Het
Alg9	T	C	9: 50,754,048 (GRCm39)	L576P	possibly damaging	Het
Arhgap20	A	G	9: 51,761,218 (GRCm39)	E1023G	possibly damaging	Het
Astn2	A	T	4: 65,563,058 (GRCm39)	S908T	probably benign	Het
Atp1a4	C	T	1: 172,054,866 (GRCm39)		probably null	Het
Cabin1	T	C	10: 75,582,573 (GRCm39)	Y281C	probably damaging	Het
Cdc42bpb	G	T	12: 111,265,995 (GRCm39)	F1312L	probably benign	Het
Cfap65	A	C	1: 74,966,337 (GRCm39)	F330C	probably damaging	Het
Col27a1	C	T	4: 63,233,820 (GRCm39)	P689S	unknown	Het
Col4a3	A	T	1: 82,696,524 (GRCm39)	K1643N	probably damaging	Het
Dop1b	T	A	16: 93,598,460 (GRCm39)	V1875D	possibly damaging	Het
Eftud2	A	G	11: 102,761,082 (GRCm39)		probably benign	Het
Ergic3	C	A	2: 155,859,770 (GRCm39)	T357K	probably damaging	Het
Glra1	A	T	11: 55,427,226 (GRCm39)	D36E	probably damaging	Het
Gpatch1	A	G	7: 35,001,018 (GRCm39)	Y330H	probably damaging	Het
Hmcn2	T	C	2: 31,236,602 (GRCm39)	S382P	probably damaging	Het
Kat6a	G	A	8: 23,428,316 (GRCm39)	E1224K	probably damaging	Het
Klk13	A	G	7: 43,370,838 (GRCm39)	E29G	possibly damaging	Het
Klra9	T	C	6: 130,165,643 (GRCm39)	D124G	probably benign	Het
Lrmda	T	C	14: 22,069,978 (GRCm39)		probably null	Het
Ngfr	A	C	11: 95,462,687 (GRCm39)	L317R	probably damaging	Het
Nlrp6	C	A	7: 140,502,348 (GRCm39)	H151Q	probably damaging	Het
Nnt	A	G	13: 119,494,182 (GRCm39)	L633P	probably damaging	Het
Nxpe3	C	T	16: 55,686,535 (GRCm39)	V158M	probably damaging	Het
Or11i1	T	C	3: 106,729,456 (GRCm39)	T140A	probably damaging	Het
Or2d36	T	C	7: 106,747,425 (GRCm39)	F301L	probably benign	Het
Or7g16	C	T	9: 18,727,254 (GRCm39)	S112N	probably benign	Het
Pla2g4f	T	C	2: 120,133,850 (GRCm39)	Y517C	probably damaging	Het
Poc1a	A	T	9: 106,172,393 (GRCm39)	I207F	possibly damaging	Het
Polr2a	A	G	11: 69,636,938 (GRCm39)	S338P	probably damaging	Het
Ptprz1	T	C	6: 22,959,722 (GRCm39)	V73A	probably damaging	Het
Relb	A	T	7: 19,347,789 (GRCm39)	L281Q	probably damaging	Het
Rrp8	A	T	7: 105,383,018 (GRCm39)	L382*	probably null	Het
Setd1a	C	T	7: 127,390,522 (GRCm39)	S523F	unknown	Het
Slamf8	A	G	1: 172,415,697 (GRCm39)	I47T	probably damaging	Het
Slc16a4	G	A	3: 107,206,193 (GRCm39)	A88T	probably benign	Het
Sox6	C	T	7: 115,140,884 (GRCm39)	M532I	probably benign	Het
Tcp11l1	T	A	2: 104,512,165 (GRCm39)	Y489F	probably benign	Het
Tdrd6	T	G	17: 43,935,918 (GRCm39)	D1710A	probably benign	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Vangl1	A	T	3: 102,070,739 (GRCm39)	I399N	probably damaging	Het
Vmn1r201	T	C	13: 22,659,014 (GRCm39)	L76P	probably damaging	Het
Vmn1r58	T	C	7: 5,414,228 (GRCm39)	M1V	probably null	Het
Wdfy4	T	C	14: 32,817,262 (GRCm39)	I1561V	probably benign	Het
Xkr9	A	G	1: 13,771,027 (GRCm39)	D181G	probably damaging	Het
Zfp318	T	C	17: 46,720,104 (GRCm39)	F1101L	probably damaging	Het
Zfpm2	C	A	15: 40,966,409 (GRCm39)	Q833K	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
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
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

Posted On

2015-12-18