Incidental Mutation 'R5130:Eng'
| ID |
394937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eng
|
| Ensembl Gene |
ENSMUSG00000026814 |
| Gene Name |
endoglin |
| Synonyms |
Endo, CD105 |
| MMRRC Submission |
042718-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5130 (G1)
|
| Quality Score |
114 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32536607-32572681 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32571518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 636
(N636S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009705]
[ENSMUST00000028148]
[ENSMUST00000113272]
[ENSMUST00000167841]
|
| AlphaFold |
Q63961 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009705
AA Change: N636S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000009705
Gene: ENSMUSG00000026814
AA Change: N636S
| 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
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000123171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130164
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142186
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167841
AA Change: N635S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130585
Gene: ENSMUSG00000026814
AA Change: N635S
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.0929 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.4%
|
| Validation Efficiency |
96% (51/53) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930558K02Rik |
T |
C |
1: 161,780,184 (GRCm39) |
N110S |
possibly damaging |
Het |
| Acss3 |
T |
C |
10: 106,840,586 (GRCm39) |
I392V |
possibly damaging |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,633,321 (GRCm39) |
H696R |
possibly damaging |
Het |
| Baiap3 |
G |
T |
17: 25,464,316 (GRCm39) |
D847E |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,425,600 (GRCm39) |
K72R |
probably benign |
Het |
| Cry2 |
T |
C |
2: 92,254,944 (GRCm39) |
E137G |
probably benign |
Het |
| Dhodh |
A |
T |
8: 110,322,388 (GRCm39) |
L237Q |
possibly damaging |
Het |
| Dscam |
A |
T |
16: 96,620,979 (GRCm39) |
N576K |
probably benign |
Het |
| Ephx2 |
A |
T |
14: 66,345,511 (GRCm39) |
I151K |
probably damaging |
Het |
| Fahd1 |
A |
G |
17: 25,068,733 (GRCm39) |
C115R |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,891,386 (GRCm39) |
I143F |
possibly damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,016,161 (GRCm39) |
N981K |
probably damaging |
Het |
| Kcna5 |
T |
C |
6: 126,511,496 (GRCm39) |
I211V |
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,506,495 (GRCm39) |
V14E |
possibly damaging |
Het |
| Mlh1 |
A |
G |
9: 111,058,906 (GRCm39) |
|
probably null |
Het |
| Mylk |
A |
G |
16: 34,809,367 (GRCm39) |
K1775E |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 113,021,769 (GRCm39) |
D541G |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,146,887 (GRCm39) |
M1233K |
possibly damaging |
Het |
| Nf2 |
A |
T |
11: 4,779,862 (GRCm39) |
|
probably benign |
Het |
| Nova2 |
C |
T |
7: 18,660,069 (GRCm39) |
T22I |
unknown |
Het |
| Or3a1d |
A |
T |
11: 74,237,993 (GRCm39) |
M19K |
probably damaging |
Het |
| Or7g28 |
T |
A |
9: 19,272,369 (GRCm39) |
Y94F |
possibly damaging |
Het |
| Or8b12 |
T |
A |
9: 37,657,805 (GRCm39) |
I125N |
probably damaging |
Het |
| Pcdha2 |
A |
T |
18: 37,073,722 (GRCm39) |
N451I |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,568,877 (GRCm39) |
F8I |
probably benign |
Het |
| Pdzph1 |
A |
C |
17: 59,229,604 (GRCm39) |
L1018W |
probably damaging |
Het |
| Prdm9 |
T |
C |
17: 15,764,729 (GRCm39) |
R684G |
probably benign |
Het |
| Rabep1 |
T |
A |
11: 70,795,557 (GRCm39) |
V261E |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,040,037 (GRCm39) |
Y318F |
possibly damaging |
Het |
| Samd9l |
A |
T |
6: 3,374,548 (GRCm39) |
D904E |
possibly damaging |
Het |
| Siah3 |
A |
T |
14: 75,763,381 (GRCm39) |
K211* |
probably null |
Het |
| Slc5a8 |
T |
A |
10: 88,762,077 (GRCm39) |
N572K |
probably benign |
Het |
| Slfn8 |
A |
G |
11: 82,894,647 (GRCm39) |
F664S |
probably benign |
Het |
| Sowahb |
T |
A |
5: 93,190,630 (GRCm39) |
K696N |
possibly damaging |
Het |
| St7l |
A |
T |
3: 104,803,080 (GRCm39) |
H330L |
probably damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,629,176 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
G |
T |
5: 111,040,722 (GRCm39) |
V37F |
probably benign |
Het |
| Uaca |
C |
A |
9: 60,787,510 (GRCm39) |
Q1409K |
probably damaging |
Het |
| V1rd19 |
T |
A |
7: 23,702,537 (GRCm39) |
M1K |
probably null |
Het |
| Vmn1r225 |
A |
G |
17: 20,723,047 (GRCm39) |
R163G |
possibly damaging |
Het |
| Wdr87-ps |
T |
C |
7: 29,228,699 (GRCm39) |
|
noncoding transcript |
Het |
| Zc3h3 |
C |
A |
15: 75,651,139 (GRCm39) |
V694L |
probably damaging |
Het |
| Zfp442 |
G |
T |
2: 150,251,530 (GRCm39) |
T123K |
possibly damaging |
Het |
| Zmym1 |
A |
T |
4: 126,942,451 (GRCm39) |
S646T |
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 |
|
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'- TGAGTATCCCAAGCCTCCAC -3'
(R):5'- CAATCTGAAGTCTCCACTGGG -3'
Sequencing Primer
(F):5'- ATTCCCACAGCAAGCGC -3'
(R):5'- TCCACTGGGAGGAATGAACAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation