Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02203:Eng'

284403

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eng

Ensembl Gene

ENSMUSG00000026814

Gene Name

endoglin

Synonyms

CD105, Endo

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02203

Quality Score

Status

Chromosome

Chromosomal Location

32646595-32682669 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32671486 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8175:Eng	UTSW	2	32678922	missense	possibly damaging	0.65
R8311:Eng	UTSW	2	32678993	missense	probably benign
R8495:Eng	UTSW	2	32678894	missense	probably benign	0.07
Z1176:Eng	UTSW	2	32671422	missense	possibly damaging	0.86
Z1176:Eng	UTSW	2	32673424	missense	probably null	1.00
Z1176:Eng	UTSW	2	32681452	missense	probably damaging	0.99

Posted On

2015-04-16