Incidental Mutation 'IGL02633:Eng'
ID 301389
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eng
Ensembl Gene ENSMUSG00000026814
Gene Name endoglin
Synonyms Endo, CD105
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02633
Quality Score
Status
Chromosome 2
Chromosomal Location 32536607-32572681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32563286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 281 (I281V)
Ref Sequence ENSEMBL: ENSMUSP00000108897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009705] [ENSMUST00000113272] [ENSMUST00000167841]
AlphaFold Q63961
Predicted Effect probably damaging
Transcript: ENSMUST00000009705
AA Change: I281V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000009705
Gene: ENSMUSG00000026814
AA Change: I281V

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 damaging
Transcript: ENSMUST00000113272
AA Change: I281V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108897
Gene: ENSMUSG00000026814
AA Change: I281V

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 damaging
Transcript: ENSMUST00000167841
AA Change: I280V

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130585
Gene: ENSMUSG00000026814
AA Change: I280V

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abitram T C 4: 56,806,131 (GRCm39) V181A possibly damaging Het
Aff4 T C 11: 53,300,198 (GRCm39) probably benign Het
Ap1g2 T C 14: 55,338,104 (GRCm39) probably null Het
Aspn A T 13: 49,705,363 (GRCm39) Y75F possibly damaging Het
Atm G A 9: 53,359,453 (GRCm39) T2783I probably damaging Het
Cacnb1 A T 11: 97,913,199 (GRCm39) I18N probably damaging Het
Casr T C 16: 36,336,017 (GRCm39) I97M probably damaging Het
Cnga2 T A X: 71,048,655 (GRCm39) probably benign Het
Coasy T A 11: 100,976,147 (GRCm39) L425Q probably damaging Het
Cps1 A G 1: 67,162,396 (GRCm39) T25A probably benign Het
Dnah1 T C 14: 31,006,772 (GRCm39) Y2181C probably benign Het
Efna3 A C 3: 89,222,749 (GRCm39) S230A probably damaging Het
Erlec1 T A 11: 30,898,430 (GRCm39) R14* probably null Het
Gbp9 C T 5: 105,231,431 (GRCm39) probably benign Het
Gzmg T C 14: 56,394,160 (GRCm39) M245V probably damaging Het
Kdm5a A G 6: 120,341,680 (GRCm39) I36V probably damaging Het
Krt87 A G 15: 101,389,095 (GRCm39) V79A probably damaging Het
Limd1 A T 9: 123,308,987 (GRCm39) probably benign Het
Lmo4 T C 3: 143,899,683 (GRCm39) S155G probably benign Het
Mrpl44 G A 1: 79,753,862 (GRCm39) V5I probably benign Het
Mrpl49 T C 19: 6,104,931 (GRCm39) T146A possibly damaging Het
Mrpl58 T C 11: 115,301,457 (GRCm39) probably benign Het
Nab1 C T 1: 52,529,292 (GRCm39) V202M probably damaging Het
Nav3 T A 10: 109,527,997 (GRCm39) M2229L probably benign Het
Notch2 C T 3: 98,024,013 (GRCm39) probably benign Het
Nub1 A G 5: 24,897,931 (GRCm39) I106V probably benign Het
Prom1 A T 5: 44,172,117 (GRCm39) S595T probably benign Het
Rbfox1 T A 16: 7,110,078 (GRCm39) S165R probably damaging Het
Sipa1l2 G A 8: 126,174,507 (GRCm39) T1257I probably damaging Het
Smarcc2 T C 10: 128,305,556 (GRCm39) S327P probably damaging Het
Tdpoz1 T C 3: 93,578,056 (GRCm39) M243V probably benign Het
Ttn G T 2: 76,549,289 (GRCm39) T23469K probably damaging Het
Ube2u T C 4: 100,339,971 (GRCm39) probably benign Het
Umodl1 T C 17: 31,208,462 (GRCm39) Y836H probably damaging Het
Vmn2r45 A G 7: 8,488,728 (GRCm39) Y101H probably benign Het
Vps13a T A 19: 16,697,772 (GRCm39) Q781L possibly damaging Het
Vwce G A 19: 10,625,858 (GRCm39) V457M probably damaging Het
Other mutations in Eng
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Eng APN 2 32,562,394 (GRCm39) missense probably benign 0.03
IGL01432:Eng APN 2 32,559,544 (GRCm39) missense possibly damaging 0.66
IGL02203:Eng APN 2 32,561,498 (GRCm39) missense probably benign 0.35
IGL02330:Eng APN 2 32,559,581 (GRCm39) splice site probably null
IGL02747:Eng APN 2 32,562,970 (GRCm39) critical splice donor site probably null
R0008:Eng UTSW 2 32,567,692 (GRCm39) missense probably damaging 0.97
R0149:Eng UTSW 2 32,562,397 (GRCm39) critical splice donor site probably null
R0206:Eng UTSW 2 32,569,005 (GRCm39) missense probably benign 0.15
R0208:Eng UTSW 2 32,569,005 (GRCm39) missense probably benign 0.15
R0360:Eng UTSW 2 32,569,149 (GRCm39) missense probably benign 0.27
R0364:Eng UTSW 2 32,569,149 (GRCm39) missense probably benign 0.27
R1399:Eng UTSW 2 32,563,334 (GRCm39) missense probably damaging 0.98
R1520:Eng UTSW 2 32,562,953 (GRCm39) missense probably benign 0.41
R1752:Eng UTSW 2 32,563,404 (GRCm39) missense probably benign
R2162:Eng UTSW 2 32,569,059 (GRCm39) missense probably damaging 1.00
R2201:Eng UTSW 2 32,563,752 (GRCm39) splice site probably benign
R2389:Eng UTSW 2 32,547,684 (GRCm39) critical splice donor site probably null
R3021:Eng UTSW 2 32,568,580 (GRCm39) missense probably damaging 1.00
R3428:Eng UTSW 2 32,547,545 (GRCm39) missense probably damaging 0.97
R4704:Eng UTSW 2 32,568,924 (GRCm39) missense probably benign 0.00
R5024:Eng UTSW 2 32,563,404 (GRCm39) missense probably benign 0.00
R5130:Eng UTSW 2 32,571,518 (GRCm39) missense probably damaging 1.00
R5182:Eng UTSW 2 32,562,971 (GRCm39) critical splice donor site probably null
R6270:Eng UTSW 2 32,563,655 (GRCm39) missense probably benign 0.26
R6790:Eng UTSW 2 32,559,457 (GRCm39) missense probably damaging 0.99
R6872:Eng UTSW 2 32,563,287 (GRCm39) missense probably damaging 1.00
R8175:Eng UTSW 2 32,568,934 (GRCm39) missense possibly damaging 0.65
R8311:Eng UTSW 2 32,569,005 (GRCm39) missense probably benign
R8495:Eng UTSW 2 32,568,906 (GRCm39) missense probably benign 0.07
R9325:Eng UTSW 2 32,561,445 (GRCm39) missense probably damaging 1.00
Z1176:Eng UTSW 2 32,571,464 (GRCm39) missense probably damaging 0.99
Z1176:Eng UTSW 2 32,563,436 (GRCm39) missense probably null 1.00
Z1176:Eng UTSW 2 32,561,434 (GRCm39) missense possibly damaging 0.86
Posted On 2015-04-16