Mutagenetix > Incidental Mutation

Incidental Mutation 'R0149:Eng'

22692

Institutional Source

Beutler Lab

Gene Symbol

Eng

Ensembl Gene

ENSMUSG00000026814

Gene Name

endoglin

Synonyms

Endo, CD105

MMRRC Submission

038433-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0149 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

32536607-32572681 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 32562397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130585 (fasta)

Gene Model

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

AlphaFold

Q63961

Predicted Effect

probably null
Transcript: ENSMUST00000009705

SMART Domains

Protein: ENSMUSP00000009705
Gene: ENSMUSG00000026814

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 null
Transcript: ENSMUST00000113272

SMART Domains

Protein: ENSMUSP00000108897
Gene: ENSMUSG00000026814

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 null
Transcript: ENSMUST00000167841

SMART Domains

Protein: ENSMUSP00000130585
Gene: ENSMUSG00000026814

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

Meta Mutation Damage Score

0.8532

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (84/87)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	C	8: 12,330,000 (GRCm39)	S152R	unknown	Het
Acsbg2	A	G	17: 57,160,924 (GRCm39)		probably benign	Het
Adam6a	G	T	12: 113,509,369 (GRCm39)	V581F	probably damaging	Het
Adgrl3	A	T	5: 81,908,544 (GRCm39)	I1165F	probably damaging	Het
Aldh1l1	A	G	6: 90,566,396 (GRCm39)	K656E	possibly damaging	Het
Ankhd1	T	C	18: 36,780,267 (GRCm39)	I1773T	probably damaging	Het
Api5	A	T	2: 94,253,842 (GRCm39)	L287*	probably null	Het
Ascc3	A	T	10: 50,484,089 (GRCm39)	N55I	probably benign	Het
Cav1	C	A	6: 17,339,352 (GRCm39)	R146S	possibly damaging	Het
Cdhr2	A	T	13: 54,881,820 (GRCm39)	I1118F	probably damaging	Het
Cemip	A	G	7: 83,613,218 (GRCm39)	I660T	probably benign	Het
Clk1	T	A	1: 58,453,760 (GRCm39)	N305Y	probably damaging	Het
Cux1	T	A	5: 136,308,351 (GRCm39)	I1263F	probably damaging	Het
Cyp2d26	A	G	15: 82,676,968 (GRCm39)	L152P	probably damaging	Het
Dmtf1	A	G	5: 9,182,571 (GRCm39)	S188P	probably damaging	Het
Dock2	A	G	11: 34,388,327 (GRCm39)	L202P	probably damaging	Het
Dscaml1	T	G	9: 45,653,978 (GRCm39)	Y1418*	probably null	Het
Efemp2	A	T	19: 5,527,988 (GRCm39)	H107L	probably damaging	Het
Erc1	A	T	6: 119,801,791 (GRCm39)	S75R	probably damaging	Het
Fgl2	A	T	5: 21,580,783 (GRCm39)	D375V	probably damaging	Het
Fpr-rs6	T	C	17: 20,402,475 (GRCm39)	I295M	probably benign	Het
Fsip2	T	C	2: 82,805,849 (GRCm39)	S723P	possibly damaging	Het
Gdpd5	A	G	7: 99,107,997 (GRCm39)	I530V	possibly damaging	Het
Gm15217	T	A	14: 46,617,841 (GRCm39)		probably benign	Het
Gm4922	T	C	10: 18,659,289 (GRCm39)	T478A	probably benign	Het
Gmcl1	A	T	6: 86,709,891 (GRCm39)		probably null	Het
Has1	T	C	17: 18,070,433 (GRCm39)	T163A	probably damaging	Het
Hmcn1	A	T	1: 150,553,075 (GRCm39)	N2538K	probably benign	Het
Itga2	A	G	13: 114,973,115 (GRCm39)		probably benign	Het
Kcnip1	A	T	11: 33,793,177 (GRCm39)	M5K	probably benign	Het
Kcnk4	T	C	19: 6,903,562 (GRCm39)	E329G	probably benign	Het
Kcnt1	T	C	2: 25,788,276 (GRCm39)		probably benign	Het
Klkb1	A	G	8: 45,729,100 (GRCm39)	C375R	probably damaging	Het
Loxl2	C	A	14: 69,930,527 (GRCm39)	H764N	probably benign	Het
Lrrc55	A	T	2: 85,026,589 (GRCm39)	M145K	probably damaging	Het
Lrrtm2	A	G	18: 35,345,985 (GRCm39)	I439T	probably benign	Het
Magi1	A	T	6: 93,724,226 (GRCm39)	I263N	probably damaging	Het
Map4	C	T	9: 109,896,692 (GRCm39)	P641L	probably damaging	Het
Mars1	A	T	10: 127,135,903 (GRCm39)	N558K	probably damaging	Het
Mfap2	A	G	4: 140,742,294 (GRCm39)	D98G	probably damaging	Het
Mgat5b	A	G	11: 116,875,965 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,300,153 (GRCm39)	V1627D	probably benign	Het
Mtnr1a	A	T	8: 45,522,352 (GRCm39)	I36F	probably benign	Het
Myh15	A	T	16: 48,934,368 (GRCm39)	N645I	probably benign	Het
Myo7b	T	A	18: 32,147,262 (GRCm39)	I94F	probably damaging	Het
Nefh	A	T	11: 4,890,799 (GRCm39)	S607T	probably benign	Het
Ngf	T	A	3: 102,427,762 (GRCm39)	H174Q	probably benign	Het
Noa1	G	A	5: 77,445,020 (GRCm39)	Q600*	probably null	Het
Nr2f2	A	G	7: 70,007,810 (GRCm39)	V71A	possibly damaging	Het
Oas2	A	T	5: 120,876,466 (GRCm39)	F492L	probably damaging	Het
Or2y17	A	T	11: 49,231,641 (GRCm39)	Y94F	probably benign	Het
Or8g21	T	A	9: 38,905,880 (GRCm39)	M284L	probably benign	Het
Osmr	A	G	15: 6,871,432 (GRCm39)		probably null	Het
P4ha1	A	G	10: 59,184,221 (GRCm39)	T228A	probably damaging	Het
Pip5kl1	T	C	2: 32,468,966 (GRCm39)	V195A	possibly damaging	Het
Plagl2	A	T	2: 153,073,523 (GRCm39)	D459E	probably benign	Het
Plxna1	T	C	6: 89,297,595 (GRCm39)	E1863G	probably null	Het
Prdm10	T	G	9: 31,227,455 (GRCm39)		probably benign	Het
Prr14l	A	C	5: 32,950,985 (GRCm39)	L1936R	probably damaging	Het
Rgs1	T	C	1: 144,124,825 (GRCm39)		probably benign	Het
Rgsl1	A	G	1: 153,669,510 (GRCm39)	F292S	probably damaging	Het
Rhobtb2	T	C	14: 70,033,357 (GRCm39)	T538A	probably benign	Het
Rictor	A	G	15: 6,813,588 (GRCm39)	N1025D	possibly damaging	Het
Rsph10b	T	A	5: 143,875,727 (GRCm39)		probably benign	Het
Rwdd4a	A	G	8: 47,997,255 (GRCm39)	D158G	probably null	Het
Sdk1	T	C	5: 141,842,809 (GRCm39)		probably benign	Het
Serpina3n	A	C	12: 104,377,635 (GRCm39)	K296T	probably benign	Het
Slco1a8	T	C	6: 141,938,203 (GRCm39)	T239A	probably benign	Het
Snw1	A	G	12: 87,508,687 (GRCm39)	V124A	possibly damaging	Het
Tas2r140	T	G	6: 40,468,232 (GRCm39)	F21V	probably benign	Het
Tmc6	G	A	11: 117,660,274 (GRCm39)	L655F	probably damaging	Het
Tmem260	A	T	14: 48,689,504 (GRCm39)	T108S	possibly damaging	Het
Trim2	T	C	3: 84,098,083 (GRCm39)	Y406C	probably damaging	Het
Tsc1	T	C	2: 28,560,913 (GRCm39)	I257T	probably damaging	Het
Ttn	T	C	2: 76,673,746 (GRCm39)		probably benign	Het
Unc80	T	A	1: 66,560,760 (GRCm39)	N829K	possibly damaging	Het
Vmn1r235	A	C	17: 21,482,257 (GRCm39)	D194A	probably damaging	Het
Vmn2r100	A	T	17: 19,741,509 (GRCm39)		probably null	Het
Ylpm1	G	T	12: 85,075,612 (GRCm39)	R321L	probably damaging	Het
Zan	T	C	5: 137,395,028 (GRCm39)	T4381A	unknown	Het
Zfp457	A	G	13: 67,440,710 (GRCm39)	F622L	probably damaging	Het
Zfy1	T	C	Y: 726,121 (GRCm39)	H548R	possibly damaging	Het
Zmym4	A	T	4: 126,804,938 (GRCm39)	S441T	probably benign	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
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'- TGCTTGCCAGAAGCTCACAAGGAC -3'
(R):5'- TGTGGCTTTAGTATGGGGACAGACC -3'

Sequencing Primer
(F):5'- CTCACAAGGACATGGGCG -3'
(R):5'- gcaaccttcactctgctgtc -3'

Posted On

2013-04-16