Incidental Mutation 'IGL02226:Ltbp4'
ID 285362
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ltbp4
Ensembl Gene ENSMUSG00000040488
Gene Name latent transforming growth factor beta binding protein 4
Synonyms 2310046A13Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02226
Quality Score
Status
Chromosome 7
Chromosomal Location 27004561-27037117 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 27006359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 1440 (E1440K)
Ref Sequence ENSEMBL: ENSMUSP00000104006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038618] [ENSMUST00000108369] [ENSMUST00000118583] [ENSMUST00000118961] [ENSMUST00000121175] [ENSMUST00000125455]
AlphaFold Q8K4G1
Predicted Effect possibly damaging
Transcript: ENSMUST00000038618
AA Change: E1441K

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000037536
Gene: ENSMUSG00000040488
AA Change: E1441K

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 87 100 N/A INTRINSIC
low complexity region 112 125 N/A INTRINSIC
EGF 151 180 2.74e-3 SMART
low complexity region 244 265 N/A INTRINSIC
EGF_CA 356 396 3.51e-10 SMART
Pfam:TB 416 457 4.8e-15 PFAM
low complexity region 490 501 N/A INTRINSIC
low complexity region 507 568 N/A INTRINSIC
low complexity region 579 590 N/A INTRINSIC
EGF 591 629 6.06e-5 SMART
EGF_CA 630 671 8.3e-12 SMART
EGF_CA 672 713 7.34e-13 SMART
EGF_CA 714 751 8.43e-13 SMART
EGF_CA 753 794 1.66e-11 SMART
EGF_CA 795 836 3.61e-12 SMART
EGF_CA 837 876 5.61e-9 SMART
EGF_CA 877 919 1.73e-9 SMART
EGF_CA 920 961 7.12e-11 SMART
EGF_CA 962 1002 3.56e-11 SMART
EGF_CA 1003 1046 1.61e-9 SMART
EGF_CA 1047 1090 2.13e-9 SMART
EGF_CA 1091 1132 1.02e-11 SMART
EGF 1136 1175 1.69e1 SMART
low complexity region 1185 1223 N/A INTRINSIC
Pfam:TB 1234 1276 1.7e-13 PFAM
EGF_CA 1295 1337 2.72e-7 SMART
EGF_CA 1338 1379 1.36e-7 SMART
Pfam:TB 1402 1443 4.3e-14 PFAM
low complexity region 1449 1461 N/A INTRINSIC
low complexity region 1478 1500 N/A INTRINSIC
EGF 1578 1615 6.06e-5 SMART
EGF_CA 1616 1660 9.54e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108369
AA Change: E1440K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104006
Gene: ENSMUSG00000040488
AA Change: E1440K

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 116 145 N/A INTRINSIC
EGF 150 179 2.74e-3 SMART
low complexity region 243 264 N/A INTRINSIC
EGF_CA 355 395 3.51e-10 SMART
Pfam:TB 414 456 2.5e-14 PFAM
low complexity region 489 500 N/A INTRINSIC
low complexity region 506 567 N/A INTRINSIC
low complexity region 578 589 N/A INTRINSIC
EGF 590 628 6.06e-5 SMART
EGF_CA 629 670 8.3e-12 SMART
EGF_CA 671 712 7.34e-13 SMART
EGF_CA 713 750 8.43e-13 SMART
EGF_CA 752 793 1.66e-11 SMART
EGF_CA 794 835 3.61e-12 SMART
EGF_CA 836 875 5.61e-9 SMART
EGF_CA 876 918 1.73e-9 SMART
EGF_CA 919 960 7.12e-11 SMART
EGF_CA 961 1001 3.56e-11 SMART
EGF_CA 1002 1045 1.61e-9 SMART
EGF_CA 1046 1089 2.13e-9 SMART
EGF_CA 1090 1131 1.02e-11 SMART
EGF 1135 1174 1.69e1 SMART
low complexity region 1184 1222 N/A INTRINSIC
Pfam:TB 1232 1275 2.4e-13 PFAM
EGF_CA 1294 1336 2.72e-7 SMART
EGF_CA 1337 1378 1.36e-7 SMART
Pfam:TB 1400 1442 7.6e-15 PFAM
low complexity region 1448 1460 N/A INTRINSIC
low complexity region 1477 1499 N/A INTRINSIC
EGF 1577 1614 6.06e-5 SMART
EGF_CA 1615 1659 9.54e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000118583
AA Change: E1375K

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113523
Gene: ENSMUSG00000040488
AA Change: E1375K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 69 80 N/A INTRINSIC
EGF 85 114 2.74e-3 SMART
low complexity region 178 199 N/A INTRINSIC
EGF_CA 290 330 3.51e-10 SMART
Pfam:TB 349 391 2.3e-14 PFAM
low complexity region 424 435 N/A INTRINSIC
low complexity region 441 502 N/A INTRINSIC
low complexity region 513 524 N/A INTRINSIC
EGF 525 563 6.06e-5 SMART
EGF_CA 564 605 8.3e-12 SMART
EGF_CA 606 647 7.34e-13 SMART
EGF_CA 648 685 8.43e-13 SMART
EGF_CA 687 728 1.66e-11 SMART
EGF_CA 729 770 3.61e-12 SMART
EGF_CA 771 810 5.61e-9 SMART
EGF_CA 811 853 1.73e-9 SMART
EGF_CA 854 895 7.12e-11 SMART
EGF_CA 896 936 3.56e-11 SMART
EGF_CA 937 980 1.61e-9 SMART
EGF_CA 981 1024 2.13e-9 SMART
EGF_CA 1025 1066 1.02e-11 SMART
EGF 1070 1109 1.69e1 SMART
low complexity region 1119 1157 N/A INTRINSIC
Pfam:TB 1167 1210 2.2e-13 PFAM
EGF_CA 1229 1271 2.72e-7 SMART
EGF_CA 1272 1313 1.36e-7 SMART
Pfam:TB 1335 1377 7.1e-15 PFAM
low complexity region 1383 1395 N/A INTRINSIC
low complexity region 1412 1434 N/A INTRINSIC
EGF 1512 1549 6.06e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118961
SMART Domains Protein: ENSMUSP00000113746
Gene: ENSMUSG00000040488

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 69 80 N/A INTRINSIC
EGF 85 114 2.74e-3 SMART
low complexity region 178 199 N/A INTRINSIC
EGF_CA 290 330 3.51e-10 SMART
Pfam:TB 349 391 1.6e-14 PFAM
low complexity region 424 435 N/A INTRINSIC
low complexity region 441 502 N/A INTRINSIC
low complexity region 513 524 N/A INTRINSIC
EGF 525 563 6.06e-5 SMART
EGF_CA 564 605 8.3e-12 SMART
EGF_CA 606 647 7.34e-13 SMART
EGF_CA 648 685 8.43e-13 SMART
EGF_CA 687 728 1.66e-11 SMART
EGF_CA 729 770 3.61e-12 SMART
EGF_CA 771 810 5.61e-9 SMART
EGF_CA 811 853 1.73e-9 SMART
EGF_CA 854 895 7.12e-11 SMART
EGF_CA 896 936 3.56e-11 SMART
EGF_CA 937 980 1.61e-9 SMART
EGF_CA 981 1024 2.13e-9 SMART
EGF_CA 1025 1066 1.02e-11 SMART
EGF 1070 1109 1.69e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121175
AA Change: E1375K

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113674
Gene: ENSMUSG00000040488
AA Change: E1375K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 69 80 N/A INTRINSIC
EGF 85 114 2.74e-3 SMART
low complexity region 178 199 N/A INTRINSIC
EGF_CA 290 330 3.51e-10 SMART
Pfam:TB 349 391 3.4e-14 PFAM
low complexity region 424 435 N/A INTRINSIC
low complexity region 441 502 N/A INTRINSIC
low complexity region 513 524 N/A INTRINSIC
EGF 525 563 6.06e-5 SMART
EGF_CA 564 605 8.3e-12 SMART
EGF_CA 606 647 7.34e-13 SMART
EGF_CA 648 685 8.43e-13 SMART
EGF_CA 687 728 1.66e-11 SMART
EGF_CA 729 770 3.61e-12 SMART
EGF_CA 771 810 5.61e-9 SMART
EGF_CA 811 853 1.73e-9 SMART
EGF_CA 854 895 7.12e-11 SMART
EGF_CA 896 936 3.56e-11 SMART
EGF_CA 937 980 1.61e-9 SMART
EGF_CA 981 1024 2.13e-9 SMART
EGF_CA 1025 1066 1.02e-11 SMART
EGF 1070 1109 1.69e1 SMART
low complexity region 1119 1157 N/A INTRINSIC
Pfam:TB 1167 1210 3.3e-13 PFAM
EGF_CA 1229 1271 2.72e-7 SMART
EGF_CA 1272 1313 1.36e-7 SMART
Pfam:TB 1335 1377 1e-14 PFAM
low complexity region 1383 1395 N/A INTRINSIC
low complexity region 1412 1434 N/A INTRINSIC
EGF 1512 1549 6.06e-5 SMART
EGF_CA 1550 1594 9.54e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125455
AA Change: E125K

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000120326
Gene: ENSMUSG00000040488
AA Change: E125K

DomainStartEndE-ValueType
Pfam:TB 9 52 1.9e-14 PFAM
Pfam:TB 85 127 6e-16 PFAM
low complexity region 133 145 N/A INTRINSIC
low complexity region 162 184 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129471
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134464
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 binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous disruption of this locus results in pulmonary emphysema, cardiomyopathy, and colon cancer. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T C 12: 53,057,250 (GRCm39) probably benign Het
Ankrd11 G A 8: 123,618,984 (GRCm39) R1602W probably damaging Het
Arhgap23 G T 11: 97,342,426 (GRCm39) R236L probably benign Het
Aurkaip1 T C 4: 155,917,028 (GRCm39) V92A probably benign Het
Cdh20 A T 1: 104,881,816 (GRCm39) probably benign Het
Ctnnd2 A G 15: 30,847,482 (GRCm39) N691S probably benign Het
Ddx24 A C 12: 103,390,717 (GRCm39) D2E possibly damaging Het
Dennd5b A G 6: 148,934,799 (GRCm39) S691P probably benign Het
Dhrs3 C T 4: 144,650,519 (GRCm39) R248W possibly damaging Het
Dlgap1 T C 17: 70,823,029 (GRCm39) S5P probably damaging Het
Dnai4 A T 4: 102,947,595 (GRCm39) I227K probably benign Het
Ep300 A T 15: 81,497,613 (GRCm39) M510L unknown Het
Fbxo25 T C 8: 13,973,922 (GRCm39) probably benign Het
Gm3252 A T 14: 4,743,741 (GRCm38) K193M possibly damaging Het
Gtf3c1 T C 7: 125,267,162 (GRCm39) probably null Het
Helz2 T C 2: 180,873,483 (GRCm39) D2337G probably damaging Het
Idh1 A T 1: 65,201,081 (GRCm39) M290K probably damaging Het
Layn T C 9: 50,985,317 (GRCm39) S80G probably damaging Het
Mri1 T C 8: 84,982,924 (GRCm39) T166A probably damaging Het
Myod1 C T 7: 46,027,730 (GRCm39) T290I probably benign Het
Nfat5 T A 8: 108,078,154 (GRCm39) L431* probably null Het
Nle1 A T 11: 82,795,133 (GRCm39) Y299* probably null Het
Nlrp4c T A 7: 6,069,828 (GRCm39) F576L possibly damaging Het
Nudt21 G T 8: 94,746,329 (GRCm39) S123* probably null Het
Plekhg1 A C 10: 3,895,916 (GRCm39) D436A probably damaging Het
Plxna2 T C 1: 194,326,732 (GRCm39) V222A probably damaging Het
Ppp4r3c1 A C X: 88,975,518 (GRCm39) D226E probably damaging Het
Rbm14 A G 19: 4,851,745 (GRCm39) probably benign Het
Scfd1 T A 12: 51,436,164 (GRCm39) probably benign Het
Slc34a2 A G 5: 53,225,073 (GRCm39) T405A probably benign Het
Slc39a9 T A 12: 80,691,695 (GRCm39) M14K probably damaging Het
Slc39a9 G A 12: 80,691,696 (GRCm39) M14I probably damaging Het
Spast G A 17: 74,679,334 (GRCm39) probably benign Het
Spen T C 4: 141,205,457 (GRCm39) R1057G unknown Het
Sptbn4 T G 7: 27,065,132 (GRCm39) T2056P probably damaging Het
Ssrp1 T C 2: 84,870,705 (GRCm39) L148P probably damaging Het
Tdrd6 T A 17: 43,938,093 (GRCm39) H985L probably damaging Het
Tmem44 A G 16: 30,358,199 (GRCm39) probably benign Het
Vmn2r116 T A 17: 23,603,808 (GRCm39) L11Q probably null Het
Other mutations in Ltbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Ltbp4 APN 7 27,028,230 (GRCm39) missense probably damaging 0.96
IGL00585:Ltbp4 APN 7 27,026,158 (GRCm39) missense probably damaging 0.98
IGL01320:Ltbp4 APN 7 27,027,784 (GRCm39) splice site probably benign
IGL01860:Ltbp4 APN 7 27,019,071 (GRCm39) missense probably damaging 1.00
IGL02026:Ltbp4 APN 7 27,026,842 (GRCm39) nonsense probably null
IGL02422:Ltbp4 APN 7 27,019,097 (GRCm39) missense probably damaging 1.00
IGL02611:Ltbp4 APN 7 27,010,080 (GRCm39) missense probably damaging 1.00
IGL02892:Ltbp4 APN 7 27,010,074 (GRCm39) missense probably damaging 1.00
IGL02926:Ltbp4 APN 7 27,028,297 (GRCm39) splice site probably null
IGL02950:Ltbp4 APN 7 27,006,143 (GRCm39) missense probably damaging 0.99
IGL03008:Ltbp4 APN 7 27,023,789 (GRCm39) missense probably damaging 0.99
IGL03271:Ltbp4 APN 7 27,029,240 (GRCm39) missense unknown
IGL02837:Ltbp4 UTSW 7 27,013,806 (GRCm39) missense probably damaging 1.00
R0792:Ltbp4 UTSW 7 27,024,485 (GRCm39) missense probably damaging 1.00
R0980:Ltbp4 UTSW 7 27,023,587 (GRCm39) missense probably damaging 1.00
R1017:Ltbp4 UTSW 7 27,005,501 (GRCm39) missense possibly damaging 0.95
R1185:Ltbp4 UTSW 7 27,009,960 (GRCm39) missense probably damaging 1.00
R1185:Ltbp4 UTSW 7 27,009,960 (GRCm39) missense probably damaging 1.00
R1185:Ltbp4 UTSW 7 27,009,960 (GRCm39) missense probably damaging 1.00
R1403:Ltbp4 UTSW 7 27,028,464 (GRCm39) missense unknown
R1403:Ltbp4 UTSW 7 27,028,464 (GRCm39) missense unknown
R1448:Ltbp4 UTSW 7 27,006,002 (GRCm39) missense possibly damaging 0.86
R1575:Ltbp4 UTSW 7 27,022,245 (GRCm39) missense probably damaging 1.00
R1918:Ltbp4 UTSW 7 27,036,994 (GRCm39) unclassified probably benign
R1932:Ltbp4 UTSW 7 27,007,191 (GRCm39) critical splice donor site probably null
R1959:Ltbp4 UTSW 7 27,028,443 (GRCm39) missense unknown
R1960:Ltbp4 UTSW 7 27,028,443 (GRCm39) missense unknown
R1976:Ltbp4 UTSW 7 27,026,195 (GRCm39) missense probably damaging 1.00
R2060:Ltbp4 UTSW 7 27,008,378 (GRCm39) missense probably damaging 1.00
R2333:Ltbp4 UTSW 7 27,027,203 (GRCm39) missense possibly damaging 0.82
R2431:Ltbp4 UTSW 7 27,019,101 (GRCm39) missense possibly damaging 0.91
R3125:Ltbp4 UTSW 7 27,027,203 (GRCm39) missense possibly damaging 0.82
R4093:Ltbp4 UTSW 7 27,024,641 (GRCm39) missense possibly damaging 0.93
R4095:Ltbp4 UTSW 7 27,024,641 (GRCm39) missense possibly damaging 0.93
R4592:Ltbp4 UTSW 7 27,024,608 (GRCm39) missense probably damaging 0.96
R4610:Ltbp4 UTSW 7 27,006,125 (GRCm39) missense probably damaging 1.00
R4650:Ltbp4 UTSW 7 27,013,734 (GRCm39) missense probably damaging 1.00
R4912:Ltbp4 UTSW 7 27,005,541 (GRCm39) nonsense probably null
R5002:Ltbp4 UTSW 7 27,027,110 (GRCm39) frame shift probably null
R5016:Ltbp4 UTSW 7 27,027,110 (GRCm39) frame shift probably null
R5216:Ltbp4 UTSW 7 27,026,736 (GRCm39) small deletion probably benign
R5218:Ltbp4 UTSW 7 27,026,736 (GRCm39) small deletion probably benign
R5219:Ltbp4 UTSW 7 27,026,746 (GRCm39) missense probably benign 0.01
R5219:Ltbp4 UTSW 7 27,026,736 (GRCm39) small deletion probably benign
R5539:Ltbp4 UTSW 7 27,027,149 (GRCm39) missense probably damaging 0.97
R5991:Ltbp4 UTSW 7 27,008,741 (GRCm39) missense probably damaging 1.00
R6082:Ltbp4 UTSW 7 27,035,105 (GRCm39) unclassified probably benign
R6125:Ltbp4 UTSW 7 27,027,180 (GRCm39) missense probably damaging 1.00
R6146:Ltbp4 UTSW 7 27,019,149 (GRCm39) missense probably damaging 0.99
R6156:Ltbp4 UTSW 7 27,029,587 (GRCm39) missense unknown
R6414:Ltbp4 UTSW 7 27,010,140 (GRCm39) missense probably damaging 1.00
R6563:Ltbp4 UTSW 7 27,008,488 (GRCm39) missense probably damaging 1.00
R6719:Ltbp4 UTSW 7 27,028,188 (GRCm39) missense probably damaging 0.99
R6940:Ltbp4 UTSW 7 27,008,369 (GRCm39) missense probably damaging 1.00
R7054:Ltbp4 UTSW 7 27,007,191 (GRCm39) critical splice donor site probably null
R7116:Ltbp4 UTSW 7 27,004,852 (GRCm39) missense probably damaging 0.99
R7326:Ltbp4 UTSW 7 27,029,180 (GRCm39) missense unknown
R7419:Ltbp4 UTSW 7 27,029,192 (GRCm39) missense unknown
R8068:Ltbp4 UTSW 7 27,023,593 (GRCm39) missense probably damaging 0.99
R8435:Ltbp4 UTSW 7 27,034,870 (GRCm39) missense unknown
R8543:Ltbp4 UTSW 7 27,024,666 (GRCm39) missense possibly damaging 0.84
R8897:Ltbp4 UTSW 7 27,026,119 (GRCm39) missense probably benign 0.09
R9103:Ltbp4 UTSW 7 27,028,186 (GRCm39) missense unknown
R9131:Ltbp4 UTSW 7 27,036,976 (GRCm39) missense unknown
R9206:Ltbp4 UTSW 7 27,022,350 (GRCm39) missense probably damaging 1.00
R9301:Ltbp4 UTSW 7 27,021,578 (GRCm39) missense probably damaging 0.98
R9302:Ltbp4 UTSW 7 27,008,481 (GRCm39) missense possibly damaging 0.80
X0025:Ltbp4 UTSW 7 27,025,227 (GRCm39) missense probably damaging 1.00
X0066:Ltbp4 UTSW 7 27,005,490 (GRCm39) critical splice donor site probably null
Z1088:Ltbp4 UTSW 7 27,007,217 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16