Incidental Mutation 'R6400:Ltbp1'
ID 516143
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 044547-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6400 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 75312563-75699507 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75458397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 326 (Y326C)
Ref Sequence ENSEMBL: ENSMUSP00000001927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001927]
AlphaFold Q8CG19
Predicted Effect possibly damaging
Transcript: ENSMUST00000001927
AA Change: Y326C

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000001927
Gene: ENSMUSG00000001870
AA Change: Y326C

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
Meta Mutation Damage Score 0.0747 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.2%
Validation Efficiency 100% (32/32)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,638,435 (GRCm39) *160Q probably null Het
Aen G A 7: 78,557,142 (GRCm39) G330E probably benign Het
Akap8l G A 17: 32,555,294 (GRCm39) R262C probably damaging Het
Cbx8 G A 11: 118,929,694 (GRCm39) Q300* probably null Het
Cd274 C T 19: 29,362,808 (GRCm39) T290M probably damaging Het
Cd36 A C 5: 18,019,721 (GRCm39) S127A probably damaging Het
Celf3 A G 3: 94,387,593 (GRCm39) Y55C probably damaging Het
Clec1a A T 6: 129,412,316 (GRCm39) probably null Het
Cog2 A T 8: 125,277,045 (GRCm39) I684F probably damaging Het
Cyp2c65 C T 19: 39,049,558 (GRCm39) L29F possibly damaging Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Dytn A T 1: 63,680,335 (GRCm39) L408* probably null Het
Flg A G 3: 93,187,228 (GRCm39) T227A probably benign Het
Heatr4 T A 12: 84,001,784 (GRCm39) K887M probably null Het
Hoxb1 C T 11: 96,256,818 (GRCm39) Q56* probably null Het
Kcnh7 T A 2: 62,569,688 (GRCm39) N736I probably damaging Het
Lgr4 T C 2: 109,821,478 (GRCm39) V120A probably damaging Het
Map3k1 A T 13: 111,892,259 (GRCm39) S999T probably damaging Het
Med12l T C 3: 59,155,332 (GRCm39) F1171L probably damaging Het
Muc5b T C 7: 141,412,402 (GRCm39) S1783P unknown Het
Nbr1 T C 11: 101,456,600 (GRCm39) L159P probably damaging Het
Nme9 T C 9: 99,351,760 (GRCm39) F248S possibly damaging Het
Or4x11 C T 2: 89,867,739 (GRCm39) L159F probably benign Het
Or6k2 T C 1: 173,986,830 (GRCm39) S164P probably damaging Het
Rasgrf1 C T 9: 89,873,683 (GRCm39) T664I probably damaging Het
Setx A G 2: 29,020,286 (GRCm39) D91G probably damaging Het
Stim1 A G 7: 102,080,157 (GRCm39) R514G probably null Het
Svep1 C A 4: 58,049,169 (GRCm39) G3446V probably damaging Het
Tcte2 T A 17: 13,942,714 (GRCm39) probably benign Het
Trmt10b A G 4: 45,308,562 (GRCm39) K239E probably damaging Het
Wdr70 A T 15: 8,072,322 (GRCm39) S189T probably benign 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
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
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'- AAATGAGCCGTGTGTGGTAC -3'
(R):5'- AAAACCCTGCTGTCTGGTTG -3'

Sequencing Primer
(F):5'- TTGACATTGAAAGCCCCGTG -3'
(R):5'- AAAACCCTGCTGTCTGGTTGTTTTAG -3'
Posted On 2018-05-04