Incidental Mutation 'IGL01760:Ltbp1'
ID 153235
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 # IGL01760
Quality Score
Status
Chromosome 17
Chromosomal Location 75312563-75699507 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75534145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 211 (T211M)
Ref Sequence ENSEMBL: ENSMUSP00000108133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001927] [ENSMUST00000112514] [ENSMUST00000112516] [ENSMUST00000135447]
AlphaFold Q8CG19
Predicted Effect possibly damaging
Transcript: ENSMUST00000001927
AA Change: T529M

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000001927
Gene: ENSMUSG00000001870
AA Change: T529M

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 damaging
Transcript: ENSMUST00000112514
AA Change: T211M

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108133
Gene: ENSMUSG00000001870
AA Change: T211M

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 possibly damaging
Transcript: ENSMUST00000112516
AA Change: T211M

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108135
Gene: ENSMUSG00000001870
AA Change: T211M

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 possibly damaging
Transcript: ENSMUST00000135447
AA Change: T211M

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116890
Gene: ENSMUSG00000001870
AA Change: T211M

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
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T A 8: 84,458,586 (GRCm39) T147S probably benign Het
Chst3 A T 10: 60,022,292 (GRCm39) V185D probably damaging Het
Col14a1 A C 15: 55,286,855 (GRCm39) D892A unknown Het
Dop1a A G 9: 86,401,976 (GRCm39) T1059A probably benign Het
Eif1ad3 A T 12: 87,843,791 (GRCm39) probably benign Het
Erlec1 A C 11: 30,884,731 (GRCm39) S441A probably benign Het
Frmd4b G T 6: 97,285,663 (GRCm39) T289N probably damaging Het
Gm6133 G A 18: 78,393,390 (GRCm39) R128Q probably benign Het
Gnai2 A G 9: 107,493,717 (GRCm39) S155P probably damaging Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Hspg2 T C 4: 137,239,982 (GRCm39) S517P possibly damaging Het
Ighv9-1 C A 12: 114,057,814 (GRCm39) E29* probably null Het
Lrp1 T C 10: 127,409,370 (GRCm39) K1583R probably benign Het
Mttp A G 3: 137,817,497 (GRCm39) S418P probably benign Het
Napa A G 7: 15,832,669 (GRCm39) N23S possibly damaging Het
Odf2 C A 2: 29,804,472 (GRCm39) Q347K probably damaging Het
Ogdhl A G 14: 32,061,894 (GRCm39) D504G probably damaging Het
Or10aa1 T C 1: 173,870,191 (GRCm39) L225P probably damaging Het
Pdxdc1 A T 16: 13,677,016 (GRCm39) N273K probably damaging Het
Rslcan18 T C 13: 67,262,015 (GRCm39) I11V probably benign Het
Spidr G T 16: 15,730,424 (GRCm39) R664S possibly damaging Het
Tead3 T C 17: 28,552,055 (GRCm39) N385S probably benign Het
Trim13 T A 14: 61,843,172 (GRCm39) N396K probably benign Het
Trp53bp2 C T 1: 182,275,993 (GRCm39) A160V possibly damaging Het
Vmn2r69 A G 7: 85,056,072 (GRCm39) S689P possibly damaging Het
Vmn2r79 A T 7: 86,651,366 (GRCm39) Q255L probably benign Het
Wsb1 T C 11: 79,132,867 (GRCm39) Y276C probably damaging Het
Zfp236 G T 18: 82,639,547 (GRCm39) N1233K 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
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
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 2014-02-04