Incidental Mutation 'R5222:Angpt1'
| ID |
402387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Angpt1
|
| Ensembl Gene |
ENSMUSG00000022309 |
| Gene Name |
angiopoietin 1 |
| Synonyms |
Angiopoietin-1, 1110046O21Rik, Ang-1, ang1 |
| MMRRC Submission |
042795-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5222 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
42288119-42540373 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42539730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 43
(Y43C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022921]
|
| AlphaFold |
O08538 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022921
AA Change: Y43C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022921
Gene: ENSMUSG00000022309
AA Change: Y43C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
coiled coil region
|
194 |
254 |
N/A |
INTRINSIC |
|
FBG
|
281 |
496 |
3.04e-132 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180585
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228544
|
| Meta Mutation Damage Score |
0.7189 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: This gene encodes a secreted glycoprotein that belongs to the angiopoietin family of vascular growth factors. The encoded protein is a ligand in the vascular tyrosine kinase signaling pathway and regulates the formation and stabilization of blood vessels. This protein also functions in striated muscles by promoting proliferation, migration and differentiation of skeletal myoblasts and plays an essential role in the vascular response to tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality by E12.5 and deficits in vascular development such as a reduction in vascular branching. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
C |
A |
1: 159,872,178 (GRCm39) |
|
noncoding transcript |
Het |
| Acad11 |
G |
A |
9: 103,974,576 (GRCm39) |
A515T |
probably damaging |
Het |
| Arhgef33 |
A |
G |
17: 80,644,743 (GRCm39) |
Y24C |
probably damaging |
Het |
| Cd40 |
G |
C |
2: 164,908,464 (GRCm39) |
S180T |
probably benign |
Het |
| Cenpc1 |
A |
T |
5: 86,185,606 (GRCm39) |
S302T |
possibly damaging |
Het |
| Cit |
C |
A |
5: 116,090,602 (GRCm39) |
T932K |
probably benign |
Het |
| Col19a1 |
A |
C |
1: 24,598,721 (GRCm39) |
|
probably null |
Het |
| Dapk3 |
A |
G |
10: 81,028,294 (GRCm39) |
E288G |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,437,192 (GRCm39) |
F1002S |
probably damaging |
Het |
| Dgke |
G |
T |
11: 88,941,220 (GRCm39) |
T321K |
probably benign |
Het |
| Ebf2 |
T |
G |
14: 67,551,043 (GRCm39) |
|
probably benign |
Het |
| Enpp7 |
A |
G |
11: 118,881,788 (GRCm39) |
D311G |
probably benign |
Het |
| Epm2a |
A |
G |
10: 11,324,493 (GRCm39) |
E194G |
probably damaging |
Het |
| Esf1 |
A |
G |
2: 140,000,503 (GRCm39) |
Y428H |
possibly damaging |
Het |
| Esyt2 |
T |
C |
12: 116,282,446 (GRCm39) |
F132S |
probably damaging |
Het |
| Gm5455 |
T |
C |
13: 110,441,494 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
T |
A |
11: 57,080,623 (GRCm39) |
V202E |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Mark1 |
A |
T |
1: 184,660,288 (GRCm39) |
F123I |
probably damaging |
Het |
| Nectin4 |
T |
A |
1: 171,212,825 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
A |
11: 58,934,971 (GRCm39) |
T5220S |
possibly damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2l13 |
A |
C |
16: 19,305,680 (GRCm39) |
I31L |
probably benign |
Het |
| Or2p2 |
T |
A |
13: 21,256,739 (GRCm39) |
H244L |
probably damaging |
Het |
| Pdcd1 |
A |
T |
1: 93,980,175 (GRCm39) |
V14E |
probably damaging |
Het |
| Pmel |
A |
G |
10: 128,554,853 (GRCm39) |
|
probably null |
Het |
| Pramel28 |
T |
A |
4: 143,691,362 (GRCm39) |
I454F |
possibly damaging |
Het |
| Prrx1 |
C |
T |
1: 163,089,542 (GRCm39) |
R95Q |
probably damaging |
Het |
| Pstpip2 |
T |
A |
18: 77,962,032 (GRCm39) |
Y267* |
probably null |
Het |
| Ptprq |
A |
G |
10: 107,498,425 (GRCm39) |
I884T |
probably damaging |
Het |
| Rad17 |
G |
A |
13: 100,770,399 (GRCm39) |
T216I |
possibly damaging |
Het |
| Rif1 |
T |
C |
2: 51,967,032 (GRCm39) |
I107T |
probably benign |
Het |
| Rpp14 |
T |
C |
14: 8,087,513 (GRCm38) |
L69P |
probably damaging |
Het |
| Rtel1 |
G |
T |
2: 180,988,776 (GRCm39) |
|
probably benign |
Het |
| Sap130 |
C |
T |
18: 31,799,756 (GRCm39) |
T362M |
probably damaging |
Het |
| Scn11a |
A |
G |
9: 119,644,268 (GRCm39) |
|
probably null |
Het |
| Sec31a |
G |
T |
5: 100,530,754 (GRCm39) |
T243N |
probably benign |
Het |
| Slc5a9 |
T |
A |
4: 111,755,808 (GRCm39) |
H30L |
possibly damaging |
Het |
| Slco6b1 |
T |
A |
1: 96,925,216 (GRCm39) |
|
noncoding transcript |
Het |
| Smarca4 |
A |
G |
9: 21,567,002 (GRCm39) |
D694G |
probably benign |
Het |
| Spaca6 |
A |
G |
17: 18,058,367 (GRCm39) |
T213A |
probably benign |
Het |
| Tagap |
C |
A |
17: 8,152,473 (GRCm39) |
Q553K |
possibly damaging |
Het |
| Tagap |
A |
T |
17: 8,152,474 (GRCm39) |
Q553L |
possibly damaging |
Het |
| Tcf7l2 |
A |
G |
19: 55,887,044 (GRCm39) |
Q19R |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,709,197 (GRCm39) |
|
probably benign |
Het |
| Ubr7 |
A |
T |
12: 102,741,964 (GRCm39) |
R399S |
probably benign |
Het |
| Uspl1 |
C |
A |
5: 149,150,911 (GRCm39) |
Q690K |
possibly damaging |
Het |
| Vps8 |
T |
A |
16: 21,400,298 (GRCm39) |
Y853* |
probably null |
Het |
| Vrk3 |
A |
T |
7: 44,409,220 (GRCm39) |
Q129L |
possibly damaging |
Het |
| Wapl |
T |
A |
14: 34,458,642 (GRCm39) |
C901* |
probably null |
Het |
|
| Other mutations in Angpt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01761:Angpt1
|
APN |
15 |
42,339,863 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02671:Angpt1
|
APN |
15 |
42,539,790 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02876:Angpt1
|
APN |
15 |
42,290,373 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03077:Angpt1
|
APN |
15 |
42,339,818 (GRCm39) |
nonsense |
probably null |
|
|
IGL03334:Angpt1
|
APN |
15 |
42,359,808 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0226:Angpt1
|
UTSW |
15 |
42,331,631 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1774:Angpt1
|
UTSW |
15 |
42,387,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1800:Angpt1
|
UTSW |
15 |
42,375,800 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1967:Angpt1
|
UTSW |
15 |
42,301,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Angpt1
|
UTSW |
15 |
42,386,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4477:Angpt1
|
UTSW |
15 |
42,331,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4629:Angpt1
|
UTSW |
15 |
42,301,796 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4647:Angpt1
|
UTSW |
15 |
42,539,580 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4648:Angpt1
|
UTSW |
15 |
42,539,580 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4750:Angpt1
|
UTSW |
15 |
42,539,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5386:Angpt1
|
UTSW |
15 |
42,301,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5457:Angpt1
|
UTSW |
15 |
42,386,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5526:Angpt1
|
UTSW |
15 |
42,375,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6154:Angpt1
|
UTSW |
15 |
42,387,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6904:Angpt1
|
UTSW |
15 |
42,323,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7009:Angpt1
|
UTSW |
15 |
42,386,991 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7101:Angpt1
|
UTSW |
15 |
42,386,965 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7139:Angpt1
|
UTSW |
15 |
42,539,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7234:Angpt1
|
UTSW |
15 |
42,323,121 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7830:Angpt1
|
UTSW |
15 |
42,539,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8046:Angpt1
|
UTSW |
15 |
42,359,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8073:Angpt1
|
UTSW |
15 |
42,301,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8093:Angpt1
|
UTSW |
15 |
42,339,873 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8331:Angpt1
|
UTSW |
15 |
42,539,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8391:Angpt1
|
UTSW |
15 |
42,375,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8411:Angpt1
|
UTSW |
15 |
42,290,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8508:Angpt1
|
UTSW |
15 |
42,375,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8787:Angpt1
|
UTSW |
15 |
42,375,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9297:Angpt1
|
UTSW |
15 |
42,301,751 (GRCm39) |
missense |
probably benign |
|
|
R9318:Angpt1
|
UTSW |
15 |
42,301,751 (GRCm39) |
missense |
probably benign |
|
|
R9746:Angpt1
|
UTSW |
15 |
42,539,837 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAGAGCAATTAGAAACCG -3'
(R):5'- ACGCTTTCTTTAACGGGGAAAG -3'
Sequencing Primer
(F):5'- CGAAAGCGATCACTTACTTTTTGCAG -3'
(R):5'- TTCTTTAACGGGGAAAGAGTCAAAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation