Incidental Mutation 'IGL03119:Ltbp3'
ID 409918
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ltbp3
Ensembl Gene ENSMUSG00000024940
Gene Name latent transforming growth factor beta binding protein 3
Synonyms Ltbp2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # IGL03119
Quality Score
Status
Chromosome 19
Chromosomal Location 5790932-5808560 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5807471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 1123 (Q1123L)
Ref Sequence ENSEMBL: ENSMUSP00000080214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025890] [ENSMUST00000081496]
AlphaFold Q61810
Predicted Effect probably benign
Transcript: ENSMUST00000025890
SMART Domains Protein: ENSMUSP00000025890
Gene: ENSMUSG00000024941

DomainStartEndE-ValueType
low complexity region 18 28 N/A INTRINSIC
Pfam:Pkinase_Tyr 30 254 3.3e-11 PFAM
Pfam:Pkinase 31 252 2e-14 PFAM
SCOP:d1gw5a_ 350 536 1e-18 SMART
low complexity region 556 577 N/A INTRINSIC
low complexity region 608 620 N/A INTRINSIC
coiled coil region 759 795 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000081496
AA Change: Q1123L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940
AA Change: Q1123L

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
EGF 109 138 6.76e-3 SMART
low complexity region 140 154 N/A INTRINSIC
low complexity region 191 199 N/A INTRINSIC
low complexity region 221 233 N/A INTRINSIC
low complexity region 254 273 N/A INTRINSIC
Pfam:TB 286 323 8e-9 PFAM
EGF_CA 352 392 2.08e-12 SMART
Pfam:TB 411 451 4.8e-18 PFAM
low complexity region 526 537 N/A INTRINSIC
EGF_CA 571 612 8.71e-6 SMART
EGF_CA 613 656 2.8e-9 SMART
EGF_CA 657 699 2.48e-10 SMART
EGF_CA 700 740 4.96e-10 SMART
EGF_CA 741 781 1.69e-12 SMART
EGF_CA 782 822 1.94e-12 SMART
EGF_CA 823 862 3.27e-10 SMART
EGF_CA 863 905 3.32e-11 SMART
Pfam:TB 925 967 5.7e-16 PFAM
EGF_CA 990 1032 4.49e-8 SMART
EGF_CA 1033 1073 3.17e-8 SMART
Pfam:TB 1097 1134 1.2e-11 PFAM
EGF 1170 1203 1.53e1 SMART
EGF_CA 1204 1248 1.53e-10 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 forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit craniofacial malformations including an overshot mandible and ossification of synchondroses. Mutants develop osteosclerosis of long bones and osteoarthritis, and, in some cases, high corticosterone levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,764,887 (GRCm39) T626A probably benign Het
Adcy1 C T 11: 7,059,051 (GRCm39) T319I probably damaging Het
Adgrv1 A G 13: 81,530,492 (GRCm39) S5861P probably damaging Het
Adgrv1 A C 13: 81,581,819 (GRCm39) C4742G probably benign Het
Arid5b A T 10: 68,079,057 (GRCm39) D93E probably damaging Het
Atp6v1h A G 1: 5,165,892 (GRCm39) T121A probably benign Het
Atxn7 C T 14: 14,100,734 (GRCm38) L807F probably damaging Het
Cep104 A C 4: 154,066,181 (GRCm39) K126N probably damaging Het
Dcaf6 T C 1: 165,167,545 (GRCm39) E708G probably damaging Het
Dst A G 1: 34,200,143 (GRCm39) Y107C probably damaging Het
E2f3 A G 13: 30,169,348 (GRCm39) S102P probably benign Het
Eif3e A C 15: 43,129,000 (GRCm39) S207A probably benign Het
Etl4 A G 2: 20,718,198 (GRCm39) Y313C probably damaging Het
Fyttd1 T C 16: 32,721,065 (GRCm39) V121A probably benign Het
Gstk1 T C 6: 42,226,833 (GRCm39) S200P probably damaging Het
Ifrd1 A T 12: 40,262,333 (GRCm39) F244L probably null Het
Ints7 T C 1: 191,342,477 (GRCm39) V491A probably damaging Het
Kcnd2 G T 6: 21,216,508 (GRCm39) E71* probably null Het
Myo5a A G 9: 75,081,297 (GRCm39) T961A probably benign Het
Naa25 T A 5: 121,573,041 (GRCm39) V720E probably null Het
Or52ab4 A G 7: 102,987,929 (GRCm39) I223V probably damaging Het
Or5b121 T C 19: 13,507,799 (GRCm39) I298T probably benign Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Peli1 T C 11: 21,090,560 (GRCm39) probably benign Het
Ptbp1 T C 10: 79,695,458 (GRCm39) V209A probably damaging Het
Ranbp2 A G 10: 58,287,825 (GRCm39) Y31C probably damaging Het
Smg1 G A 7: 117,794,336 (GRCm39) probably benign Het
Stat2 A G 10: 128,119,386 (GRCm39) M457V probably benign Het
Trpm6 G T 19: 18,815,381 (GRCm39) E1156* probably null Het
Usp53 T A 3: 122,755,064 (GRCm39) R130S possibly damaging Het
Vwa5b1 A G 4: 138,333,852 (GRCm39) S193P probably benign Het
Xrn2 A G 2: 146,884,792 (GRCm39) I626V probably damaging Het
Zfp574 G A 7: 24,779,898 (GRCm39) A307T probably benign Het
Other mutations in Ltbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Ltbp3 APN 19 5,806,044 (GRCm39) missense probably damaging 0.99
IGL00978:Ltbp3 APN 19 5,804,047 (GRCm39) missense probably benign 0.26
IGL01517:Ltbp3 APN 19 5,807,760 (GRCm39) missense possibly damaging 0.57
IGL01529:Ltbp3 APN 19 5,797,867 (GRCm39) missense probably benign 0.06
abner UTSW 19 5,795,685 (GRCm39) missense probably benign 0.09
csp UTSW 19 5,797,716 (GRCm39) missense probably damaging 1.00
lilia UTSW 19 5,797,885 (GRCm39) critical splice donor site probably null
Rapunzel UTSW 19 5,803,970 (GRCm39) nonsense probably null
PIT4305001:Ltbp3 UTSW 19 5,802,095 (GRCm39) missense probably damaging 0.99
PIT4453001:Ltbp3 UTSW 19 5,807,822 (GRCm39) missense probably damaging 0.97
PIT4480001:Ltbp3 UTSW 19 5,801,254 (GRCm39) missense possibly damaging 0.73
R0211:Ltbp3 UTSW 19 5,802,171 (GRCm39) critical splice donor site probably null
R0718:Ltbp3 UTSW 19 5,796,776 (GRCm39) splice site probably benign
R1103:Ltbp3 UTSW 19 5,797,440 (GRCm39) critical splice acceptor site probably null
R1103:Ltbp3 UTSW 19 5,797,439 (GRCm39) critical splice acceptor site probably null
R1299:Ltbp3 UTSW 19 5,795,456 (GRCm39) splice site probably benign
R1510:Ltbp3 UTSW 19 5,798,915 (GRCm39) missense probably benign 0.02
R1616:Ltbp3 UTSW 19 5,796,995 (GRCm39) missense probably damaging 1.00
R1682:Ltbp3 UTSW 19 5,801,782 (GRCm39) missense probably benign 0.02
R1752:Ltbp3 UTSW 19 5,795,685 (GRCm39) missense probably benign 0.09
R1806:Ltbp3 UTSW 19 5,803,970 (GRCm39) nonsense probably null
R1866:Ltbp3 UTSW 19 5,797,877 (GRCm39) missense probably benign 0.43
R1981:Ltbp3 UTSW 19 5,808,107 (GRCm39) missense probably benign 0.15
R2211:Ltbp3 UTSW 19 5,803,990 (GRCm39) missense possibly damaging 0.79
R2239:Ltbp3 UTSW 19 5,801,551 (GRCm39) nonsense probably null
R2261:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R2263:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R2380:Ltbp3 UTSW 19 5,801,551 (GRCm39) nonsense probably null
R2412:Ltbp3 UTSW 19 5,796,673 (GRCm39) missense probably benign 0.08
R2446:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R2449:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R3056:Ltbp3 UTSW 19 5,801,434 (GRCm39) missense probably benign 0.11
R3080:Ltbp3 UTSW 19 5,806,916 (GRCm39) frame shift probably null
R3863:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R3864:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R3951:Ltbp3 UTSW 19 5,806,029 (GRCm39) missense probably damaging 1.00
R3961:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R3962:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R3963:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R3972:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R4028:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R4031:Ltbp3 UTSW 19 5,804,050 (GRCm39) missense probably benign 0.02
R4041:Ltbp3 UTSW 19 5,801,899 (GRCm39) missense possibly damaging 0.95
R4060:Ltbp3 UTSW 19 5,792,348 (GRCm39) missense probably benign 0.41
R4296:Ltbp3 UTSW 19 5,806,610 (GRCm39) critical splice acceptor site probably null
R4525:Ltbp3 UTSW 19 5,796,387 (GRCm39) missense probably benign 0.09
R4660:Ltbp3 UTSW 19 5,798,814 (GRCm39) splice site probably null
R4794:Ltbp3 UTSW 19 5,806,707 (GRCm39) missense probably damaging 1.00
R4980:Ltbp3 UTSW 19 5,803,955 (GRCm39) critical splice acceptor site probably null
R5071:Ltbp3 UTSW 19 5,806,851 (GRCm39) missense probably damaging 1.00
R5702:Ltbp3 UTSW 19 5,797,849 (GRCm39) missense probably benign
R5771:Ltbp3 UTSW 19 5,797,572 (GRCm39) missense probably damaging 1.00
R6021:Ltbp3 UTSW 19 5,803,708 (GRCm39) missense probably benign 0.00
R6053:Ltbp3 UTSW 19 5,802,122 (GRCm39) missense probably damaging 0.98
R6321:Ltbp3 UTSW 19 5,795,685 (GRCm39) missense probably benign 0.09
R6339:Ltbp3 UTSW 19 5,797,505 (GRCm39) missense probably damaging 1.00
R6371:Ltbp3 UTSW 19 5,795,800 (GRCm39) splice site probably null
R6709:Ltbp3 UTSW 19 5,797,885 (GRCm39) critical splice donor site probably null
R7666:Ltbp3 UTSW 19 5,797,034 (GRCm39) missense possibly damaging 0.79
R8499:Ltbp3 UTSW 19 5,798,712 (GRCm39) missense probably benign 0.01
R8937:Ltbp3 UTSW 19 5,797,512 (GRCm39) missense probably benign 0.09
R9362:Ltbp3 UTSW 19 5,803,697 (GRCm39) missense probably benign 0.01
R9645:Ltbp3 UTSW 19 5,802,099 (GRCm39) missense probably damaging 1.00
R9697:Ltbp3 UTSW 19 5,792,521 (GRCm39) missense probably benign 0.00
R9774:Ltbp3 UTSW 19 5,804,014 (GRCm39) missense probably benign 0.08
X0066:Ltbp3 UTSW 19 5,801,305 (GRCm39) missense probably benign 0.01
Z1177:Ltbp3 UTSW 19 5,797,758 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02