Mutagenetix > Incidental Mutation

Incidental Mutation 'R0364:Eng'

65523

Institutional Source

Beutler Lab

Gene Symbol

Eng

Ensembl Gene

ENSMUSG00000026814

Gene Name

endoglin

Synonyms

Endo, CD105

MMRRC Submission

038570-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32536607-32572681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32569149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 559 (S559P)

Ref Sequence

ENSEMBL: ENSMUSP00000108897 (fasta)

Gene Model

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

AlphaFold

Q63961

Predicted Effect

probably benign
Transcript: ENSMUST00000009705
AA Change: S559P

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000009705
Gene: ENSMUSG00000026814
AA Change: S559P

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

probably benign
Transcript: ENSMUST00000113272
AA Change: S559P

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108897
Gene: ENSMUSG00000026814
AA Change: S559P

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

noncoding transcript
Transcript: ENSMUST00000132327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142186

Predicted Effect

unknown
Transcript: ENSMUST00000156306
AA Change: S272P

SMART Domains

Protein: ENSMUSP00000122186
Gene: ENSMUSG00000026814
AA Change: S272P

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: S558P

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000130585
Gene: ENSMUSG00000026814
AA Change: S558P

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

Meta Mutation Damage Score

0.1668

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (86/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,310,553 (GRCm39)		probably benign	Het
Ano7	A	G	1: 93,316,380 (GRCm39)	D221G	probably benign	Het
Arhgef12	A	T	9: 42,929,697 (GRCm39)	N199K	probably damaging	Het
Arpc2	A	G	1: 74,276,046 (GRCm39)	N26S	probably null	Het
Camta2	G	A	11: 70,574,136 (GRCm39)	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,627,282 (GRCm39)	N665I	probably damaging	Het
Ccdc178	C	T	18: 22,048,119 (GRCm39)	R757H	probably damaging	Het
Cfap52	A	C	11: 67,844,436 (GRCm39)	I93S	possibly damaging	Het
Cmklr1	A	T	5: 113,752,578 (GRCm39)	L141H	probably damaging	Het
Crybb3	T	A	5: 113,223,819 (GRCm39)	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,504,155 (GRCm39)	P97S	probably benign	Het
Cubn	T	C	2: 13,315,318 (GRCm39)		probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,253 (GRCm39)		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,290,117 (GRCm39)	N223K	probably benign	Het
Dennd2a	T	C	6: 39,485,233 (GRCm39)	T349A	probably benign	Het
Dnah12	A	G	14: 26,445,628 (GRCm39)	T730A	probably benign	Het
Dock5	G	A	14: 68,060,129 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,221,097 (GRCm39)		probably benign	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,748,663 (GRCm39)	K503*	probably null	Het
Endou	A	T	15: 97,616,854 (GRCm39)		probably benign	Het
Epc2	T	A	2: 49,427,145 (GRCm39)	V563E	possibly damaging	Het
Fbxw17	T	C	13: 50,586,477 (GRCm39)	S40P	possibly damaging	Het
Flt4	A	T	11: 49,527,818 (GRCm39)	M924L	probably benign	Het
Fyb1	A	G	15: 6,610,272 (GRCm39)	K282E	probably damaging	Het
Gabpa	T	A	16: 84,654,275 (GRCm39)	N317K	possibly damaging	Het
Gli3	G	T	13: 15,899,349 (GRCm39)	G912V	probably benign	Het
Gm10295	C	A	7: 71,000,361 (GRCm39)	C73F	unknown	Het
Gm10382	G	T	5: 125,466,728 (GRCm39)		probably benign	Het
Gp1ba	T	C	11: 70,531,284 (GRCm39)		probably benign	Het
Gpr146	G	A	5: 139,364,933 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,723,594 (GRCm39)	Y628C	probably damaging	Het
Hexa	A	G	9: 59,471,218 (GRCm39)	N491D	probably benign	Het
Hexd	T	A	11: 121,102,969 (GRCm39)	H62Q	probably benign	Het
Hpx	G	T	7: 105,245,471 (GRCm39)	Q101K	probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Inpp4b	A	T	8: 82,723,943 (GRCm39)	T492S	probably benign	Het
Iqgap2	A	C	13: 95,867,783 (GRCm39)		probably benign	Het
Islr2	T	C	9: 58,107,027 (GRCm39)	T78A	possibly damaging	Het
Itga9	A	G	9: 118,670,210 (GRCm39)	T177A	probably benign	Het
Itpkc	A	C	7: 26,927,174 (GRCm39)	S247A	possibly damaging	Het
Kirrel1	T	C	3: 86,997,106 (GRCm39)	Y287C	probably damaging	Het
Kiz	T	G	2: 146,784,076 (GRCm39)	S536R	probably benign	Het
Klhl9	T	G	4: 88,638,527 (GRCm39)	K571N	probably benign	Het
Kprp	A	T	3: 92,731,642 (GRCm39)	Y469*	probably null	Het
Ksr1	A	T	11: 78,919,851 (GRCm39)		probably benign	Het
Lrrc37a	C	T	11: 103,391,466 (GRCm39)	V1320I	possibly damaging	Het
Ltf	A	T	9: 110,854,235 (GRCm39)	N350I	probably benign	Het
Msl3l2	G	A	10: 55,991,947 (GRCm39)	R224Q	possibly damaging	Het
Myh6	A	T	14: 55,185,804 (GRCm39)	Y1490*	probably null	Het
Necap1	A	G	6: 122,857,728 (GRCm39)		probably benign	Het
Nf1	A	T	11: 79,332,783 (GRCm39)	K810*	probably null	Het
Nkx6-3	A	G	8: 23,647,722 (GRCm39)	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,004,830 (GRCm39)		probably benign	Het
Obscn	G	A	11: 59,019,107 (GRCm39)	A969V	probably benign	Het
Or11a4	T	C	17: 37,536,934 (GRCm39)	L306P	possibly damaging	Het
Or7g32	G	A	9: 19,389,268 (GRCm39)	Q90*	probably null	Het
Or8b40	A	G	9: 38,027,325 (GRCm39)	T78A	probably benign	Het
Or8k33	A	T	2: 86,384,123 (GRCm39)	L115Q	probably damaging	Het
Pcdhb17	C	A	18: 37,618,888 (GRCm39)	A226E	possibly damaging	Het
Phldb1	A	T	9: 44,610,632 (GRCm39)		probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pon2	G	A	6: 5,266,156 (GRCm39)	Q288*	probably null	Het
Prr14	G	A	7: 127,073,751 (GRCm39)	R205H	probably benign	Het
Ptpn13	C	A	5: 103,681,214 (GRCm39)	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,735,992 (GRCm39)	V62D	probably damaging	Het
Rab37	G	T	11: 115,047,790 (GRCm39)	C44F	probably damaging	Het
Rbm44	T	C	1: 91,080,069 (GRCm39)	S52P	probably benign	Het
Rusf1	C	T	7: 127,889,786 (GRCm39)	R1H	probably damaging	Het
Scn5a	T	C	9: 119,351,665 (GRCm39)	D772G	probably damaging	Het
Slc7a5	A	G	8: 122,611,754 (GRCm39)	F425L	probably benign	Het
Slk	T	A	19: 47,608,628 (GRCm39)	L527*	probably null	Het
Stpg4	T	A	17: 87,697,142 (GRCm39)		probably null	Het
Taar6	C	A	10: 23,861,046 (GRCm39)	V167L	probably benign	Het
Tas2r123	T	A	6: 132,824,644 (GRCm39)	S180R	probably benign	Het
Tmc2	C	T	2: 130,044,023 (GRCm39)	R86W	probably benign	Het
Tmem200c	T	A	17: 69,147,543 (GRCm39)	V42E	probably damaging	Het
Trhde	T	C	10: 114,338,887 (GRCm39)		probably benign	Het
Tshz1	A	T	18: 84,034,249 (GRCm39)	I53N	probably benign	Het
Tshz3	A	G	7: 36,469,958 (GRCm39)	E649G	probably benign	Het
Ttll7	C	A	3: 146,650,936 (GRCm39)	R719S	possibly damaging	Het
Utp4	T	C	8: 107,625,169 (GRCm39)		probably benign	Het
Vmn1r35	A	G	6: 66,655,827 (GRCm39)	I281T	probably damaging	Het
Vps39	T	G	2: 120,176,119 (GRCm39)	K76T	probably damaging	Het
Whamm	A	G	7: 81,243,799 (GRCm39)	T674A	probably benign	Het
Zbtb16	A	G	9: 48,654,876 (GRCm39)		probably benign	Het
Zfp623	T	C	15: 75,820,510 (GRCm39)	S489P	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
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
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

Posted On

2013-08-08