Mutagenetix > Incidental Mutation

Incidental Mutation 'R9325:Eng'

706431

Institutional Source

Beutler Lab

Gene Symbol

Eng

Ensembl Gene

ENSMUSG00000026814

Gene Name

endoglin

Synonyms

Endo, CD105

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9325 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32536607-32572681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32561445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 152 (A152V)

Ref Sequence

ENSEMBL: ENSMUSP00000009705 (fasta)

Gene Model

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

AlphaFold

Q63961

Predicted Effect

probably damaging
Transcript: ENSMUST00000009705
AA Change: A152V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000009705
Gene: ENSMUSG00000026814
AA Change: A152V

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 damaging
Transcript: ENSMUST00000113272
AA Change: A152V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108897
Gene: ENSMUSG00000026814
AA Change: A152V

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 damaging
Transcript: ENSMUST00000167841
AA Change: A151V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130585
Gene: ENSMUSG00000026814
AA Change: A151V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (59/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,646,578 (GRCm39)	D1076G	possibly damaging	Het
Aadacl2fm1	T	A	3: 59,843,862 (GRCm39)	N185K	probably benign	Het
Adamts9	T	C	6: 92,849,279 (GRCm39)	D1060G	probably benign	Het
Ahnak	T	A	19: 8,991,257 (GRCm39)	D4180E	probably benign	Het
Ank2	A	C	3: 126,775,504 (GRCm39)	F42V	probably damaging	Het
Ankib1	A	G	5: 3,822,523 (GRCm39)	I61T	possibly damaging	Het
Arhgap9	T	C	10: 127,161,722 (GRCm39)	S238P	probably damaging	Het
Bpifa3	A	T	2: 153,975,600 (GRCm39)	I57F	probably damaging	Het
Cdh17	A	G	4: 11,810,319 (GRCm39)	Y670C	probably damaging	Het
Ceacam20	C	A	7: 19,720,607 (GRCm39)	R515S	probably benign	Het
Cers5	A	T	15: 99,637,338 (GRCm39)	V274E	probably damaging	Het
Clip1	T	C	5: 123,751,186 (GRCm39)	D865G		Het
Cnih3	G	A	1: 181,181,072 (GRCm39)		probably null	Het
Coro2b	G	T	9: 62,396,609 (GRCm39)	H44N	probably benign	Het
Cuta	A	G	17: 27,158,289 (GRCm39)		probably null	Het
Dchs1	T	C	7: 105,415,402 (GRCm39)	I625V	possibly damaging	Het
Ddx4	A	T	13: 112,736,441 (GRCm39)	F643Y	probably damaging	Het
Dlc1	A	T	8: 37,038,518 (GRCm39)	V1020E	possibly damaging	Het
Dnah1	G	T	14: 30,998,160 (GRCm39)	T2559K	possibly damaging	Het
F7	G	T	8: 13,083,430 (GRCm39)	R190L	probably benign	Het
Fcgr4	T	C	1: 170,847,711 (GRCm39)	V103A	probably damaging	Het
Fer1l4	C	T	2: 155,877,934 (GRCm39)	V1005I	probably damaging	Het
Fmod	A	T	1: 133,968,371 (GRCm39)	H137L	probably damaging	Het
Fndc7	T	C	3: 108,790,834 (GRCm39)	D64G	possibly damaging	Het
Gucy2c	A	T	6: 136,743,992 (GRCm39)	C202*	probably null	Het
Hspg2	C	T	4: 137,265,552 (GRCm39)	R1783W	probably damaging	Het
Hyal6	T	A	6: 24,743,455 (GRCm39)	S384T	probably damaging	Het
Igsf21	T	A	4: 139,794,466 (GRCm39)	I136F	probably damaging	Het
Isl1	A	G	13: 116,436,105 (GRCm39)	S321P	probably damaging	Het
Kif5c	A	G	2: 49,639,378 (GRCm39)	K813R	probably benign	Het
Klk7	A	G	7: 43,461,437 (GRCm39)	E18G	possibly damaging	Het
Lox	T	C	18: 52,661,400 (GRCm39)	M225V	probably benign	Het
Lrrfip2	T	A	9: 110,990,429 (GRCm39)	M50K	possibly damaging	Het
Lrrn2	A	T	1: 132,865,241 (GRCm39)	Q102L	probably damaging	Het
Mcm3	T	C	1: 20,875,562 (GRCm39)	R692G	probably benign	Het
Mmp14	T	C	14: 54,676,248 (GRCm39)	V326A	probably damaging	Het
Muc2	G	A	7: 141,298,559 (GRCm39)	M70I		Het
Nefl	T	C	14: 68,322,460 (GRCm39)		probably null	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Nup188	T	A	2: 30,212,271 (GRCm39)	L586Q	probably damaging	Het
Or10ag58	G	A	2: 87,265,290 (GRCm39)	G153D	possibly damaging	Het
Or8c13	T	C	9: 38,091,327 (GRCm39)	D264G	probably benign	Het
Pik3c2a	A	T	7: 115,990,558 (GRCm39)	D467E	probably damaging	Het
Polr2g	T	A	19: 8,774,669 (GRCm39)	K71N	probably benign	Het
Pramel31	A	G	4: 144,089,093 (GRCm39)	H137R	probably benign	Het
Prkci	A	G	3: 31,085,333 (GRCm39)	K184R	probably damaging	Het
Prr15	G	A	6: 54,306,137 (GRCm39)		probably benign	Het
Rin2	T	A	2: 145,727,819 (GRCm39)	N896K	probably benign	Het
Ryr3	T	C	2: 112,479,640 (GRCm39)	E4414G	probably damaging	Het
Slc4a4	T	A	5: 89,376,756 (GRCm39)	D994E	probably damaging	Het
Slc6a4	C	A	11: 76,909,999 (GRCm39)	P418Q	probably benign	Het
Smarcc2	T	A	10: 128,324,076 (GRCm39)	M1138K	unknown	Het
Snph	C	T	2: 151,436,208 (GRCm39)	R240Q	probably damaging	Het
Stox2	T	A	8: 47,647,095 (GRCm39)	T122S	probably benign	Het
Tmem131l	T	C	3: 83,817,768 (GRCm39)	D1244G	probably benign	Het
Tmem168	T	C	6: 13,583,253 (GRCm39)	I543V	probably benign	Het
Tyw1	T	C	5: 130,291,762 (GRCm39)	S77P	probably damaging	Het
Usp36	T	G	11: 118,160,031 (GRCm39)	D471A	possibly damaging	Het
Vmn2r102	A	G	17: 19,897,558 (GRCm39)	Y191C	probably damaging	Het
Vmn2r104	T	C	17: 20,268,433 (GRCm39)	Q12R	possibly damaging	Het
Zfp820	A	T	17: 22,038,380 (GRCm39)	I316N	probably damaging	Het
Zscan4-ps3	T	C	7: 11,344,227 (GRCm39)	F62L	probably 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
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
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'- TGGCTATGCTAGAAGAGGTACC -3'
(R):5'- ACTGTGGGCAAATCACATGC -3'

Sequencing Primer
(F):5'- TCTGGGCTGACTGACGACTTC -3'
(R):5'- TCACATGCCACCACAAGCTG -3'

Posted On

2022-04-18