Mutagenetix > Incidental Mutation

Incidental Mutation 'R0008:Eng'

58188

Institutional Source

Beutler Lab

Gene Symbol

Eng

Ensembl Gene

ENSMUSG00000026814

Gene Name

endoglin

Synonyms

Endo, CD105

MMRRC Submission

038303-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0008 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

32536607-32572681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32567692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 110 (V110A)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009705] [ENSMUST00000028148] [ENSMUST00000113272] [ENSMUST00000167841]

AlphaFold

Q63961

Predicted Effect

probably benign
Transcript: ENSMUST00000009705
AA Change: V421A

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000009705
Gene: ENSMUSG00000026814
AA Change: V421A

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: ENSMUST00000028148

SMART Domains

Protein: ENSMUSP00000028148
Gene: ENSMUSG00000009566

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SCOP:d1jbwa2	43	327	1e-59	SMART
PDB:1O5Z\|A	99	389	2e-37	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113272
AA Change: V421A

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108897
Gene: ENSMUSG00000026814
AA Change: V421A

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

noncoding transcript
Transcript: ENSMUST00000130164

Predicted Effect

probably damaging
Transcript: ENSMUST00000156306
AA Change: V110A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122186
Gene: ENSMUSG00000026814
AA Change: V110A

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: V420A

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000130585
Gene: ENSMUSG00000026814
AA Change: V420A

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: ENSMUST00000196848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192455

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

98% (109/111)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,882,346 (GRCm39)	K118R	possibly damaging	Het
Adtrp	T	C	13: 41,920,941 (GRCm39)	T88A	probably damaging	Het
Afap1l1	A	G	18: 61,889,976 (GRCm39)	S87P	probably benign	Het
Ankrd27	A	G	7: 35,303,125 (GRCm39)	K196R	probably benign	Het
Apoe	G	A	7: 19,431,005 (GRCm39)	T79M	probably damaging	Het
Arrdc3	T	A	13: 81,032,011 (GRCm39)	Y81*	probably null	Het
Arrdc3	T	A	13: 81,039,194 (GRCm39)	I75N	probably damaging	Het
Asah2	T	A	19: 31,981,131 (GRCm39)	K629*	probably null	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
C130074G19Rik	A	G	1: 184,615,119 (GRCm39)	S24P	probably benign	Het
C87436	A	G	6: 86,423,265 (GRCm39)		probably benign	Het
Calcrl	T	C	2: 84,203,618 (GRCm39)	D54G	probably benign	Het
Clcn2	T	C	16: 20,529,140 (GRCm39)	N367S	probably null	Het
Cnot1	G	T	8: 96,487,969 (GRCm39)	D562E	probably damaging	Het
Commd6	G	A	14: 101,877,709 (GRCm39)		probably benign	Het
Cox6a2	G	A	7: 127,805,212 (GRCm39)		probably benign	Het
Cp	T	A	3: 20,022,287 (GRCm39)	Y230N	probably damaging	Het
Dclre1c	T	C	2: 3,439,032 (GRCm39)	V64A	probably damaging	Het
Esyt3	T	C	9: 99,220,860 (GRCm39)	I114M	possibly damaging	Het
Fam83h	A	T	15: 75,875,811 (GRCm39)	Y509N	probably damaging	Het
Fat2	A	T	11: 55,202,075 (GRCm39)	L333H	probably damaging	Het
Fbxo21	A	G	5: 118,146,078 (GRCm39)	N567S	possibly damaging	Het
Fcsk	T	C	8: 111,610,865 (GRCm39)		probably benign	Het
Fn1	A	T	1: 71,634,879 (GRCm39)	L1964Q	probably damaging	Het
Gorasp1	G	T	9: 119,757,312 (GRCm39)	S353R	possibly damaging	Het
Grk2	C	T	19: 4,337,262 (GRCm39)	E646K	probably damaging	Het
Hoxc11	T	C	15: 102,863,397 (GRCm39)	V146A	probably damaging	Het
Igf2bp2	T	C	16: 21,894,841 (GRCm39)	T301A	probably benign	Het
Il11	T	C	7: 4,776,658 (GRCm39)	S111G	probably benign	Het
Ist1	A	T	8: 110,403,418 (GRCm39)	I273K	probably benign	Het
Kdm2b	G	A	5: 123,019,806 (GRCm39)	S738L	probably benign	Het
Lrp2	T	A	2: 69,346,895 (GRCm39)	N784Y	probably benign	Het
Lrp6	T	C	6: 134,462,716 (GRCm39)	E648G	probably damaging	Het
Mapk15	G	A	15: 75,870,103 (GRCm39)	E408K	probably benign	Het
Mdn1	T	A	4: 32,718,317 (GRCm39)	F2191I	possibly damaging	Het
Metrn	C	A	17: 26,015,479 (GRCm39)	V79F	possibly damaging	Het
Mtbp	T	A	15: 55,449,889 (GRCm39)		probably benign	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Myo3a	T	A	2: 22,469,753 (GRCm39)	I508N	probably damaging	Het
Nat9	A	T	11: 115,075,941 (GRCm39)	Y27N	probably damaging	Het
Ncapg2	T	C	12: 116,393,455 (GRCm39)	F553S	probably damaging	Het
Nipsnap3b	T	A	4: 53,015,112 (GRCm39)	L53Q	probably damaging	Het
Nlrp3	A	T	11: 59,449,274 (GRCm39)	H852L	probably benign	Het
Or2d3b	A	G	7: 106,514,226 (GRCm39)	I274V	probably benign	Het
Or2t6	T	A	14: 14,176,092 (GRCm38)		probably benign	Het
Or4a78	T	A	2: 89,497,428 (GRCm39)	K267N	probably damaging	Het
Or52e3	A	T	7: 102,869,558 (GRCm39)	D211V	probably damaging	Het
Or52e3	G	A	7: 102,869,584 (GRCm39)	A220T	probably benign	Het
Or5b122	A	G	19: 13,563,240 (GRCm39)	I191V	probably benign	Het
Pax9	A	G	12: 56,756,528 (GRCm39)	T289A	probably benign	Het
Pcyt2	A	T	11: 120,506,695 (GRCm39)	I53N	possibly damaging	Het
Pdlim4	C	T	11: 53,945,875 (GRCm39)	V327M	probably damaging	Het
Pdzph1	T	A	17: 59,229,756 (GRCm39)		probably benign	Het
Plekhm2	C	T	4: 141,369,704 (GRCm39)		probably benign	Het
Ppt1	T	C	4: 122,742,216 (GRCm39)		probably benign	Het
Prdm1	C	T	10: 44,317,675 (GRCm39)	E398K	probably damaging	Het
Prep	T	C	10: 44,991,174 (GRCm39)	V280A	probably benign	Het
Prkdc	T	A	16: 15,526,565 (GRCm39)		probably benign	Het
Proser3	G	A	7: 30,239,563 (GRCm39)	R514C	probably damaging	Het
Ptk7	G	A	17: 46,883,688 (GRCm39)		probably benign	Het
Rbm45	T	C	2: 76,208,742 (GRCm39)	Y293H	probably damaging	Het
Rnf213	A	C	11: 119,355,878 (GRCm39)	E4108A	possibly damaging	Het
Sdk2	A	G	11: 113,747,581 (GRCm39)	L643P	probably damaging	Het
Sec24d	C	A	3: 123,144,525 (GRCm39)		probably benign	Het
Sh2d3c	C	G	2: 32,643,033 (GRCm39)	H587D	probably damaging	Het
Slc1a1	G	A	19: 28,878,884 (GRCm39)	G208S	probably benign	Het
Slc35b4	A	T	6: 34,135,452 (GRCm39)	Y287N	probably damaging	Het
Slc46a2	T	A	4: 59,914,544 (GRCm39)	L126F	probably damaging	Het
Slc4a8	T	C	15: 100,698,374 (GRCm39)	M621T	possibly damaging	Het
Slc9b2	T	A	3: 135,042,269 (GRCm39)	V516D	possibly damaging	Het
Slco1a6	T	A	6: 142,102,948 (GRCm39)		probably benign	Het
Sncg	C	T	14: 34,096,495 (GRCm39)	V15I	probably benign	Het
Srgap2	T	C	1: 131,283,302 (GRCm39)	T260A	probably damaging	Het
Stk10	T	A	11: 32,537,305 (GRCm39)		probably benign	Het
Taf5	A	G	19: 47,064,301 (GRCm39)	S415G	possibly damaging	Het
Tdp1	C	T	12: 99,921,217 (GRCm39)		probably benign	Het
Tdp2	T	G	13: 25,025,333 (GRCm39)		probably null	Het
Tgfbi	T	A	13: 56,777,587 (GRCm39)	I357N	probably benign	Het
Tmem116	A	G	5: 121,633,159 (GRCm39)	T178A	probably damaging	Het
Tnrc6a	G	A	7: 122,769,617 (GRCm39)	R469H	probably benign	Het
Top2a	A	T	11: 98,893,729 (GRCm39)	L1055*	probably null	Het
Tox	T	A	4: 6,842,411 (GRCm39)	M40L	probably benign	Het
Trib2	A	T	12: 15,859,930 (GRCm39)	H110Q	probably benign	Het
Trpa1	A	G	1: 14,973,439 (GRCm39)	I293T	possibly damaging	Het
Trpv2	A	G	11: 62,481,086 (GRCm39)	Y395C	probably damaging	Het
Ubn2	T	A	6: 38,411,535 (GRCm39)		probably null	Het
Ubr4	C	T	4: 139,157,487 (GRCm39)	T2348M	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Vmn1r33	C	A	6: 66,589,510 (GRCm39)	G15*	probably null	Het
Vmn1r37	T	A	6: 66,708,769 (GRCm39)	S95T	probably benign	Het
Vmn2r57	A	G	7: 41,050,076 (GRCm39)	C558R	probably damaging	Het
Vnn1	T	C	10: 23,774,500 (GRCm39)		probably null	Het
Vps13c	T	C	9: 67,826,544 (GRCm39)	V1395A	probably benign	Het
Vwa7	A	G	17: 35,238,781 (GRCm39)	I290V	probably benign	Het
Wdr93	A	G	7: 79,408,221 (GRCm39)	E234G	probably damaging	Het
Zfp385b	A	T	2: 77,246,291 (GRCm39)	S245R	probably benign	Het
Zfp942	A	T	17: 22,147,319 (GRCm39)	C437S	probably damaging	Het
Zfyve9	T	A	4: 108,575,902 (GRCm39)	E393V	possibly damaging	Het

Other mutations in Eng

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02633:Eng	APN	2	32,563,286 (GRCm39)	missense	probably damaging	0.99
IGL02747:Eng	APN	2	32,562,970 (GRCm39)	critical splice donor site	probably null
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

Predicted Primers

PCR Primer
(F):5'- ACAGTGTTTCAGTAGTGACAGCGAG -3'
(R):5'- TGATGATCACCTGCAAAGACAGAGC -3'

Sequencing Primer
(F):5'- GGCCTGAGGGAATGCCG -3'
(R):5'- GCCAAGAAGCCGGTCAG -3'

Posted On

2013-07-11