Incidental Mutation 'IGL02203:Eng'
ID284403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eng
Ensembl Gene ENSMUSG00000026814
Gene Nameendoglin
SynonymsCD105, Endo
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02203
Quality Score
Status
Chromosome2
Chromosomal Location32646595-32682669 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32671486 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 170 (I170V)
Ref Sequence ENSEMBL: ENSMUSP00000108897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009705] [ENSMUST00000113272] [ENSMUST00000167841]
Predicted Effect probably benign
Transcript: ENSMUST00000009705
AA Change: I170V

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000009705
Gene: ENSMUSG00000026814
AA Change: I170V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 336 346 N/A INTRINSIC
ZP 362 569 1.29e-2 SMART
transmembrane domain 587 609 N/A INTRINSIC
low complexity region 619 634 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113272
AA Change: I170V

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108897
Gene: ENSMUSG00000026814
AA Change: I170V

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 335 345 N/A INTRINSIC
ZP 361 568 1.29e-2 SMART
transmembrane domain 586 608 N/A INTRINSIC
low complexity region 618 633 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156306
SMART Domains Protein: ENSMUSP00000122186
Gene: ENSMUSG00000026814

DomainStartEndE-ValueType
low complexity region 26 36 N/A INTRINSIC
ZP 52 283 1.23e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167841
AA Change: I169V

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000130585
Gene: ENSMUSG00000026814
AA Change: I169V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 336 346 N/A INTRINSIC
ZP 362 569 1.29e-2 SMART
transmembrane domain 587 609 N/A INTRINSIC
low complexity region 616 625 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196848
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygotes for targeted null mutations show defective vascular development, extra-arterial hematopoiesis, cardiac defects and die by embryonic day 11.0. Heterozygotes develop hemorrhagic telangiectasia causing strokes, fatal hemorrhage and heart failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A C 3: 122,179,808 D1095A probably benign Het
Acmsd T C 1: 127,738,605 probably benign Het
Ap5m1 G A 14: 49,080,258 G324D probably damaging Het
Api5 T G 2: 94,425,074 N252T probably benign Het
Arhgap45 T A 10: 80,027,553 C743* probably null Het
Clpb A G 7: 101,779,337 T435A probably damaging Het
Csmd3 C T 15: 47,849,677 probably null Het
Cyp3a11 T G 5: 145,869,166 R130S probably damaging Het
Dennd4c A G 4: 86,802,936 T612A probably benign Het
Fam69a A G 5: 107,911,781 L57S probably benign Het
Gfra2 T A 14: 70,967,084 M74K possibly damaging Het
Gpr137c A G 14: 45,277,487 T268A possibly damaging Het
Gramd3 T C 18: 56,478,954 probably null Het
Il13ra2 A G X: 147,383,673 L367P possibly damaging Het
Insr T C 8: 3,155,817 H1324R probably benign Het
Lgi3 A G 14: 70,534,518 E215G possibly damaging Het
Mst1r A G 9: 107,907,869 Y242C probably damaging Het
Mst1r A G 9: 107,913,149 T654A possibly damaging Het
Myo16 A T 8: 10,570,132 Q1561L possibly damaging Het
Obscn A C 11: 59,082,308 M2222R probably damaging Het
Olfr1020 T G 2: 85,850,088 F212C probably damaging Het
Olfr1337 A T 4: 118,782,429 V52D possibly damaging Het
Olfr62 A T 4: 118,666,182 I222F probably benign Het
Olfr705 A G 7: 106,714,630 I17T probably benign Het
Olfr914 A G 9: 38,607,423 probably benign Het
Plch1 G A 3: 63,698,739 P1239L possibly damaging Het
Ptprm A T 17: 66,953,123 I499K probably damaging Het
Rabep2 G T 7: 126,440,394 R331L possibly damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sema7a A G 9: 57,957,606 T397A probably benign Het
Sftpc A C 14: 70,521,869 M124R probably damaging Het
Slc25a38 A G 9: 120,120,812 Y198C probably damaging Het
Sppl2a A T 2: 126,904,941 M489K possibly damaging Het
Swt1 T A 1: 151,370,626 K849N probably benign Het
Ttc3 T A 16: 94,418,598 probably benign Het
Vmn2r63 A G 7: 42,904,008 V608A probably benign Het
Vwf A G 6: 125,642,406 Y1349C probably damaging Het
Ybx3 A G 6: 131,368,408 V265A probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Eng
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Eng APN 2 32672382 missense probably benign 0.03
IGL01432:Eng APN 2 32669532 missense possibly damaging 0.66
IGL02330:Eng APN 2 32669569 splice site probably null
IGL02633:Eng APN 2 32673274 missense probably damaging 0.99
IGL02747:Eng APN 2 32672958 critical splice donor site probably null
R0008:Eng UTSW 2 32677680 missense probably damaging 0.97
R0149:Eng UTSW 2 32672385 critical splice donor site probably null
R0206:Eng UTSW 2 32678993 missense probably benign 0.15
R0208:Eng UTSW 2 32678993 missense probably benign 0.15
R0360:Eng UTSW 2 32679137 missense probably benign 0.27
R0364:Eng UTSW 2 32679137 missense probably benign 0.27
R1399:Eng UTSW 2 32673322 missense probably damaging 0.98
R1520:Eng UTSW 2 32672941 missense probably benign 0.41
R1752:Eng UTSW 2 32673392 missense probably benign
R2162:Eng UTSW 2 32679047 missense probably damaging 1.00
R2201:Eng UTSW 2 32673740 splice site probably benign
R2389:Eng UTSW 2 32657672 critical splice donor site probably null
R3021:Eng UTSW 2 32678568 missense probably damaging 1.00
R3428:Eng UTSW 2 32657533 missense probably damaging 0.97
R4704:Eng UTSW 2 32678912 missense probably benign 0.00
R5024:Eng UTSW 2 32673392 missense probably benign 0.00
R5130:Eng UTSW 2 32681506 missense probably damaging 1.00
R5182:Eng UTSW 2 32672959 critical splice donor site probably null
R6270:Eng UTSW 2 32673643 missense probably benign 0.26
R6790:Eng UTSW 2 32669445 missense probably damaging 0.99
R6872:Eng UTSW 2 32673275 missense probably damaging 1.00
Posted On2015-04-16