Mutagenetix > Incidental Mutation

Incidental Mutation 'R4704:Eng'

356263

Institutional Source

Beutler Lab

Gene Symbol

Eng

Ensembl Gene

ENSMUSG00000026814

Gene Name

endoglin

Synonyms

Endo, CD105

MMRRC Submission

041952-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4704 (G1)

Quality Score

119

Status

Validated

Chromosome

Chromosomal Location

32536607-32572681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32568924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 484 (S484P)

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: S484P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000009705
Gene: ENSMUSG00000026814
AA Change: S484P

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: S484P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108897
Gene: ENSMUSG00000026814
AA Change: S484P

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: S197P

SMART Domains

Protein: ENSMUSP00000122186
Gene: ENSMUSG00000026814
AA Change: S197P

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: S483P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130585
Gene: ENSMUSG00000026814
AA Change: S483P

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: ENSMUST00000196848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175536

Meta Mutation Damage Score

0.0742

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (89/92)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,959,259 (GRCm39)	M147K	probably damaging	Het
Abca13	A	G	11: 9,226,990 (GRCm39)	D582G	possibly damaging	Het
Abca2	T	C	2: 25,333,424 (GRCm39)	L1683P	probably damaging	Het
Adam39	A	G	8: 41,278,833 (GRCm39)	H408R	probably benign	Het
Adcy4	A	G	14: 56,012,482 (GRCm39)	S554P	possibly damaging	Het
Ahnak	T	C	19: 8,990,545 (GRCm39)	I3943T	probably damaging	Het
Ahnak	T	G	19: 8,989,622 (GRCm39)		probably benign	Het
Alkal2	T	A	12: 30,937,195 (GRCm39)	S109R	probably damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Arpc3	A	G	5: 122,538,471 (GRCm39)	M1V	probably null	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Ascc3	A	G	10: 50,535,110 (GRCm39)	I668V	probably benign	Het
Bdnf	T	A	2: 109,554,037 (GRCm39)	M137K	possibly damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Cds2	T	A	2: 132,142,522 (GRCm39)	Y239*	probably null	Het
Cpped1	G	A	16: 11,703,493 (GRCm39)		probably benign	Het
Ctu2	G	A	8: 123,206,042 (GRCm39)	R261Q	probably damaging	Het
Cux1	A	G	5: 136,278,055 (GRCm39)	V645A	probably benign	Het
Cyp4f13	A	G	17: 33,144,709 (GRCm39)	C401R	probably damaging	Het
Dpt	T	G	1: 164,646,518 (GRCm39)	Y162*	probably null	Het
Ednra	A	G	8: 78,394,592 (GRCm39)		probably benign	Het
Eepd1	A	G	9: 25,394,122 (GRCm39)	T129A	probably benign	Het
Eif2s1	A	G	12: 78,923,944 (GRCm39)	T134A	probably benign	Het
Eloa	A	G	4: 135,738,525 (GRCm39)	V145A	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Eogt	A	T	6: 97,090,813 (GRCm39)	V442E	probably damaging	Het
Fam185a	C	T	5: 21,685,471 (GRCm39)		probably benign	Het
Gm4922	C	T	10: 18,660,567 (GRCm39)	V52I	probably benign	Het
Gnao1	A	G	8: 94,538,004 (GRCm39)	E14G	probably benign	Het
Gpr75	C	A	11: 30,841,110 (GRCm39)	A5D	probably benign	Het
Hbq1b	T	A	11: 32,237,448 (GRCm39)		probably benign	Het
Hdac7	G	A	15: 97,694,097 (GRCm39)	T724M	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ift88	A	G	14: 57,718,307 (GRCm39)		probably benign	Het
Irak4	A	G	15: 94,464,781 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kifc2	T	C	15: 76,547,177 (GRCm39)		probably null	Het
Kmt2c	G	A	5: 25,519,025 (GRCm39)	Q2362*	probably null	Het
Kntc1	G	A	5: 123,949,496 (GRCm39)	E1956K	probably damaging	Het
Lama3	T	C	18: 12,686,280 (GRCm39)	V2781A	probably benign	Het
Lipt2	A	G	7: 99,809,534 (GRCm39)	E207G	probably damaging	Het
Mag	A	T	7: 30,608,598 (GRCm39)	L172Q	probably damaging	Het
Map1b	A	T	13: 99,566,983 (GRCm39)	C1913S	unknown	Het
Mical3	A	G	6: 120,935,649 (GRCm39)	S1626P	probably benign	Het
Mslnl	G	T	17: 25,957,952 (GRCm39)	W65L	possibly damaging	Het
Muc20	G	T	16: 32,599,448 (GRCm39)	A3332S	possibly damaging	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Nkx2-3	G	A	19: 43,601,123 (GRCm39)	E62K	probably damaging	Het
Or6c2	T	C	10: 129,362,171 (GRCm39)	L25P	possibly damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcna-ps2	T	A	19: 9,260,786 (GRCm39)	V15E	possibly damaging	Het
Plekhg3	G	T	12: 76,625,012 (GRCm39)	G1285W	probably damaging	Het
Pramel29	A	T	4: 143,935,162 (GRCm39)	I193N	probably damaging	Het
Procr	A	G	2: 155,596,258 (GRCm39)	S142G	probably damaging	Het
Ptpn3	A	T	4: 57,270,119 (GRCm39)	N14K	possibly damaging	Het
Rin1	C	A	19: 5,105,018 (GRCm39)	L693I	probably damaging	Het
Ripk4	C	A	16: 97,547,204 (GRCm39)	E290*	probably null	Het
Rnf213	A	G	11: 119,331,175 (GRCm39)	Y2128C	probably damaging	Het
Saal1	T	C	7: 46,349,164 (GRCm39)		probably benign	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Serpinf1	C	A	11: 75,301,867 (GRCm39)	A263S	probably damaging	Het
Sgo2b	A	T	8: 64,380,824 (GRCm39)	D669E	probably damaging	Het
Slc30a9	T	C	5: 67,499,616 (GRCm39)		probably benign	Het
Sri	A	T	5: 8,112,430 (GRCm39)		probably null	Het
Sspo	G	A	6: 48,475,638 (GRCm39)	C4918Y	probably damaging	Het
Szt2	A	G	4: 118,251,026 (GRCm39)	Y361H	probably damaging	Het
Tbc1d12	T	A	19: 38,889,781 (GRCm39)	W404R	probably damaging	Het
Tcf20	T	C	15: 82,735,928 (GRCm39)	E1841G	possibly damaging	Het
Tep1	T	C	14: 51,074,530 (GRCm39)	T1832A	probably benign	Het
Tmem132e	G	A	11: 82,334,357 (GRCm39)	A623T	probably damaging	Het
Tmem201	A	T	4: 149,811,774 (GRCm39)	F357Y	possibly damaging	Het
Trappc13	T	G	13: 104,303,329 (GRCm39)		probably benign	Het
Trav6-5	C	T	14: 53,728,883 (GRCm39)	Q47*	probably null	Het
Ubxn1	T	A	19: 8,849,399 (GRCm39)	D47E	probably benign	Het
Vmn2r45	G	T	7: 8,486,535 (GRCm39)	S251*	probably null	Het
Wnk1	A	G	6: 119,942,705 (GRCm39)	L774S	possibly damaging	Het
Zfp189	T	C	4: 49,530,081 (GRCm39)	S395P	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
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'- GCACTTTGGAATGTCACTCTGTC -3'
(R):5'- CAGAGCTAAGTTGCAACTGAGG -3'

Sequencing Primer
(F):5'- GGAATGTCACTCTGTCCTGCC -3'
(R):5'- CTAAGTTGCAACTGAGGGTGCC -3'

Posted On

2015-10-21