Incidental Mutation 'IGL00822:Ltbp1'
ID 11866
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 # IGL00822
Quality Score
Status
Chromosome 17
Chromosomal Location 75312563-75699507 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75458316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 299 (Y299C)
Ref Sequence ENSEMBL: ENSMUSP00000001927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001927]
AlphaFold Q8CG19
Predicted Effect probably damaging
Transcript: ENSMUST00000001927
AA Change: Y299C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001927
Gene: ENSMUSG00000001870
AA Change: Y299C

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
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T C 8: 60,988,792 (GRCm39) S332P probably benign Het
Abcb4 T C 5: 9,000,046 (GRCm39) F1005L probably benign Het
Actr2 G A 11: 20,044,367 (GRCm39) R80W probably damaging Het
Adck1 T C 12: 88,422,286 (GRCm39) I299T probably damaging Het
Camk2g C T 14: 20,787,398 (GRCm39) G500S probably damaging Het
Car15 A T 16: 17,654,498 (GRCm39) M146K probably damaging Het
Cyp4f39 A G 17: 32,689,806 (GRCm39) N84S probably benign Het
Dock8 G T 19: 25,165,773 (GRCm39) E1886* probably null Het
Kansl2 T C 15: 98,426,734 (GRCm39) probably benign Het
Klc2 A T 19: 5,161,541 (GRCm39) V323E probably damaging Het
Lrrc7 A G 3: 157,891,111 (GRCm39) V352A probably damaging Het
Lrrc8c G T 5: 105,756,174 (GRCm39) A650S probably benign Het
Myh13 A G 11: 67,252,154 (GRCm39) T1421A probably damaging Het
Myl3 C A 9: 110,595,557 (GRCm39) T56K possibly damaging Het
Nod1 T C 6: 54,921,931 (GRCm39) Y129C probably damaging Het
Odad2 A T 18: 7,181,817 (GRCm39) L836M probably damaging Het
Otog G A 7: 45,945,304 (GRCm39) S2187N probably benign Het
Pank4 G A 4: 155,065,059 (GRCm39) R786H possibly damaging Het
Sag A G 1: 87,772,748 (GRCm39) probably null Het
Scn2b G A 9: 45,036,842 (GRCm39) V117M probably damaging Het
Sec16b G T 1: 157,392,125 (GRCm39) A886S probably benign Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Spns3 A T 11: 72,390,179 (GRCm39) probably null Het
Styk1 T C 6: 131,278,625 (GRCm39) K350E possibly damaging Het
Tns3 G A 11: 8,393,976 (GRCm39) T1291I probably damaging Het
Xntrpc A G 7: 101,733,575 (GRCm39) I175V probably damaging Het
Zfp106 G A 2: 120,344,641 (GRCm39) R1745C 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
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
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 2012-12-06