Incidental Mutation 'R2044:Ltbp1'
ID 221739
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 040051-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2044 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 75312563-75699507 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75583427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 409 (Y409C)
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: Y727C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001927
Gene: ENSMUSG00000001870
AA Change: Y727C

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000108133
Gene: ENSMUSG00000001870

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000112516
AA Change: Y409C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108135
Gene: ENSMUSG00000001870
AA Change: Y409C

DomainStartEndE-ValueType
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: Y409C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116890
Gene: ENSMUSG00000001870
AA Change: Y409C

DomainStartEndE-ValueType
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 0.2341 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 98% (92/94)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik G A 17: 37,288,986 (GRCm39) probably benign Het
Abhd15 A G 11: 77,409,164 (GRCm39) T293A probably benign Het
Aldh1l1 C T 6: 90,539,647 (GRCm39) P192L probably benign Het
Aldoart1 T G 4: 72,770,779 (GRCm39) I10L probably benign Het
Ankhd1 G A 18: 36,778,166 (GRCm39) G1653D probably benign Het
Ankk1 A C 9: 49,330,664 (GRCm39) probably null Het
Astn1 A G 1: 158,428,072 (GRCm39) T748A possibly damaging Het
Bmp7 C A 2: 172,781,708 (GRCm39) R52L possibly damaging Het
Ccdc33 G A 9: 57,938,395 (GRCm39) P859S possibly damaging Het
Ccny A G 18: 9,449,644 (GRCm39) S10P probably damaging Het
Cdc6 C A 11: 98,801,287 (GRCm39) F179L probably benign Het
Cdc7 T A 5: 107,130,998 (GRCm39) V491E probably benign Het
Cdh23 G T 10: 60,432,509 (GRCm39) S138R possibly damaging Het
Cenpc1 T C 5: 86,185,614 (GRCm39) H299R probably benign Het
Ciart A T 3: 95,786,013 (GRCm39) M354K probably benign Het
Clasrp G T 7: 19,320,640 (GRCm39) probably benign Het
Col4a3 G A 1: 82,674,040 (GRCm39) G1132E unknown Het
Crebbp G A 16: 3,902,687 (GRCm39) T2184I probably benign Het
Cyp2r1 A C 7: 114,149,640 (GRCm39) M458R probably damaging Het
Cyp7a1 C A 4: 6,275,492 (GRCm39) R27M probably null Het
Ddhd2 A G 8: 26,242,192 (GRCm39) F116L probably damaging Het
Dgkd G A 1: 87,855,413 (GRCm39) R685K probably benign Het
Dnah2 A G 11: 69,415,066 (GRCm39) S223P probably benign Het
Exph5 A T 9: 53,283,979 (GRCm39) R353S possibly damaging Het
F11 C A 8: 45,705,155 (GRCm39) V129F probably benign Het
F830045P16Rik A T 2: 129,301,317 (GRCm39) S454T possibly damaging Het
Fam124a T C 14: 62,824,656 (GRCm39) I50T probably damaging Het
Fam20c T C 5: 138,741,982 (GRCm39) probably null Het
Fam234b A G 6: 135,203,912 (GRCm39) T405A probably benign Het
Fbh1 C A 2: 11,767,781 (GRCm39) V356L possibly damaging Het
Flywch1 G A 17: 23,981,287 (GRCm39) Q132* probably null Het
Foxo6 T C 4: 120,144,166 (GRCm39) D95G probably benign Het
Ggt5 T C 10: 75,439,921 (GRCm39) F174S probably damaging Het
Gm7104 G A 12: 88,252,551 (GRCm39) noncoding transcript Het
Gpr155 A G 2: 73,203,977 (GRCm39) L279P probably damaging Het
H2-T23 A G 17: 36,343,083 (GRCm39) L98P probably damaging Het
H4c16 G C 6: 136,781,101 (GRCm39) R93G possibly damaging Het
Heatr5a A G 12: 52,002,186 (GRCm39) V250A probably benign Het
Heyl A T 4: 123,135,156 (GRCm39) I50F probably damaging Het
Ifitm10 A T 7: 141,909,771 (GRCm39) S179R probably damaging Het
Isg15 A T 4: 156,284,249 (GRCm39) I93N probably benign Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Itga10 G A 3: 96,565,006 (GRCm39) V985I probably benign Het
Kcnt2 T C 1: 140,302,892 (GRCm39) I144T probably benign Het
Klk1 A C 7: 43,878,458 (GRCm39) K104T possibly damaging Het
Lemd3 C A 10: 120,769,347 (GRCm39) R654L probably damaging Het
Lmod1 A T 1: 135,292,125 (GRCm39) M327L probably benign Het
Lonrf2 T C 1: 38,846,131 (GRCm39) E347G probably benign Het
Mecom A T 3: 30,034,741 (GRCm39) Y312N probably damaging Het
Mmut A G 17: 41,252,342 (GRCm39) T295A probably benign Het
Mrgprb3 C T 7: 48,293,482 (GRCm39) C23Y possibly damaging Het
Nadk C A 4: 155,669,898 (GRCm39) L194I probably damaging Het
Naxd A G 8: 11,559,510 (GRCm39) I182V probably benign Het
Nbeal1 T A 1: 60,358,846 (GRCm39) I1176K probably damaging Het
Nol4l C A 2: 153,371,441 (GRCm39) R81L possibly damaging Het
Odad3 T G 9: 21,903,154 (GRCm39) T419P possibly damaging Het
Or4k47 T A 2: 111,452,159 (GRCm39) R87W probably benign Het
Or8g36 A T 9: 39,422,674 (GRCm39) M114K probably damaging Het
Or9s15 G T 1: 92,524,691 (GRCm39) R150L probably benign Het
Pcdh18 A G 3: 49,709,389 (GRCm39) V642A probably benign Het
Pdzk1 G A 3: 96,763,164 (GRCm39) probably benign Het
Per3 C T 4: 151,118,395 (GRCm39) V233I probably benign Het
Pisd G A 5: 32,922,140 (GRCm39) P267S possibly damaging Het
Prm1 T A 16: 10,614,357 (GRCm39) probably benign Het
Ptprj A G 2: 90,293,439 (GRCm39) V548A probably damaging Het
Ranbp3 G A 17: 56,980,367 (GRCm39) probably benign Het
Raver2 T A 4: 100,960,009 (GRCm39) V163D probably damaging Het
Rbm14 A T 19: 4,853,905 (GRCm39) I159N possibly damaging Het
Rfx6 G A 10: 51,594,222 (GRCm39) V381I probably benign Het
Rhobtb1 T C 10: 69,108,693 (GRCm39) probably benign Het
Rpl28-ps4 T A 6: 117,190,856 (GRCm39) noncoding transcript Het
Rsph10b A G 5: 143,904,068 (GRCm39) probably null Het
Rspo4 A G 2: 151,715,013 (GRCm39) K217E unknown Het
Scgb2b27 G A 7: 33,712,710 (GRCm39) A44V possibly damaging Het
Sec14l2 G A 11: 4,061,435 (GRCm39) probably benign Het
Sec31b T C 19: 44,524,595 (GRCm39) N101D probably benign Het
Sema6a A T 18: 47,439,496 (GRCm39) C9* probably null Het
Septin5 A C 16: 18,441,762 (GRCm39) L331R probably benign Het
Slc16a11 C A 11: 70,106,477 (GRCm39) Y238* probably null Het
Slc25a12 T C 2: 71,142,892 (GRCm39) T210A probably benign Het
Slc35f1 A T 10: 52,965,443 (GRCm39) Y286F probably damaging Het
Szt2 A T 4: 118,233,645 (GRCm39) L2225* probably null Het
Thap12 T C 7: 98,365,827 (GRCm39) L665P probably damaging Het
Tpsb2 T A 17: 25,586,698 (GRCm39) W237R probably damaging Het
Tyk2 T C 9: 21,031,637 (GRCm39) D451G probably damaging Het
Ube2j1 T A 4: 33,049,696 (GRCm39) N231K probably benign Het
Vmn1r225 A T 17: 20,722,852 (GRCm39) T98S possibly damaging Het
Vmn1r87 A T 7: 12,865,748 (GRCm39) S180T probably benign Het
Vmn2r6 A G 3: 64,445,262 (GRCm39) V821A probably damaging Het
Zfp689 C A 7: 127,043,998 (GRCm39) G211C probably damaging Het
Zfp827 A G 8: 79,802,865 (GRCm39) D479G probably benign Het
Zfp995 A C 17: 22,099,575 (GRCm39) F220V probably damaging Het
Other mutations in Ltbp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CTACATAGTGGCATATCGGCTAC -3'
(R):5'- GTCTGGCTAGAACCCACATC -3'

Sequencing Primer
(F):5'- GCAATTTGCTTACATTTTGCATCTG -3'
(R):5'- AAGCTCACCTTCGGGCTC -3'
Posted On 2014-08-25