Incidental Mutation 'IGL02222:Angptl6'
| ID |
285186 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Angptl6
|
| Ensembl Gene |
ENSMUSG00000038742 |
| Gene Name |
angiopoietin-like 6 |
| Synonyms |
AGF, 6330404E11Rik, Angiopoietin-related growth factor, Arp5 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.275)
|
| Stock # |
IGL02222
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
20785104-20791023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20785203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 450
(M450K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043726]
[ENSMUST00000043911]
|
| AlphaFold |
Q8R0Z6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043726
AA Change: M450K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035784
Gene: ENSMUSG00000038742
AA Change: M450K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
coiled coil region
|
51 |
77 |
N/A |
INTRINSIC |
|
coiled coil region
|
126 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
197 |
N/A |
INTRINSIC |
|
FBG
|
242 |
455 |
7.15e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043911
|
| SMART Domains |
Protein: ENSMUSP00000045384
Gene: ENSMUSG00000038884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0515
|
16 |
272 |
1.3e-127 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175820
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176142
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176990
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177067
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Most mice homozygous for a knock-out allele die around E13 with cardiovascular defects; survivors develop obesity, lipid accumulation in skeletal muscle and liver, hyperglycemia and hyperinsulinemia, and insulin resistance accompanied by reduced energy expenditure and whole-body oxygen consumption. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,322,045 (GRCm39) |
R1682W |
probably benign |
Het |
| Armc12 |
C |
A |
17: 28,757,694 (GRCm39) |
N275K |
probably damaging |
Het |
| Cd27 |
T |
C |
6: 125,211,495 (GRCm39) |
H144R |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,386,641 (GRCm39) |
K1880E |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,414,094 (GRCm39) |
I907N |
probably damaging |
Het |
| Dpy19l4 |
A |
C |
4: 11,281,116 (GRCm39) |
F443C |
possibly damaging |
Het |
| Eif3i |
C |
T |
4: 129,485,881 (GRCm39) |
D315N |
possibly damaging |
Het |
| Fam217a |
A |
G |
13: 35,095,102 (GRCm39) |
L128P |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,078 (GRCm39) |
L62F |
probably damaging |
Het |
| Fmn1 |
A |
T |
2: 113,423,454 (GRCm39) |
I1047F |
probably damaging |
Het |
| G2e3 |
A |
G |
12: 51,410,016 (GRCm39) |
H267R |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,338,585 (GRCm39) |
|
probably null |
Het |
| Gm10650 |
T |
C |
3: 127,833,789 (GRCm39) |
|
noncoding transcript |
Het |
| Grip1 |
C |
T |
10: 119,835,714 (GRCm39) |
T470I |
probably damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,682,152 (GRCm39) |
D466A |
probably benign |
Het |
| Lrrc63 |
T |
C |
14: 75,323,580 (GRCm39) |
Y548C |
probably damaging |
Het |
| Naaa |
T |
C |
5: 92,407,409 (GRCm39) |
|
probably benign |
Het |
| Parpbp |
T |
A |
10: 87,975,947 (GRCm39) |
E55D |
possibly damaging |
Het |
| Pnpt1 |
A |
T |
11: 29,109,327 (GRCm39) |
D691V |
possibly damaging |
Het |
| Pnpt1 |
G |
A |
11: 29,080,842 (GRCm39) |
A29T |
probably benign |
Het |
| Pramel11 |
A |
G |
4: 143,622,416 (GRCm39) |
M313T |
possibly damaging |
Het |
| Psg25 |
T |
C |
7: 18,263,652 (GRCm39) |
N57S |
probably damaging |
Het |
| Selenbp2 |
T |
A |
3: 94,607,269 (GRCm39) |
V168E |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 75,999,617 (GRCm39) |
E2337K |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,087,755 (GRCm39) |
T1269A |
probably benign |
Het |
| Tent5b |
T |
C |
4: 133,213,864 (GRCm39) |
V245A |
probably damaging |
Het |
| Tnfrsf13c |
C |
A |
15: 82,107,364 (GRCm39) |
V144L |
probably damaging |
Het |
| Uspl1 |
G |
T |
5: 149,130,854 (GRCm39) |
V132L |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,449 (GRCm39) |
Y398F |
possibly damaging |
Het |
| Vps13a |
T |
A |
19: 16,659,539 (GRCm39) |
T1663S |
probably benign |
Het |
| Ythdc1 |
G |
A |
5: 86,975,902 (GRCm39) |
R503H |
possibly damaging |
Het |
|
| Other mutations in Angptl6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02448:Angptl6
|
APN |
9 |
20,786,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03064:Angptl6
|
APN |
9 |
20,786,939 (GRCm39) |
nonsense |
probably null |
|
|
R0137:Angptl6
|
UTSW |
9 |
20,789,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0669:Angptl6
|
UTSW |
9 |
20,787,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1165:Angptl6
|
UTSW |
9 |
20,789,604 (GRCm39) |
missense |
probably benign |
|
|
R4693:Angptl6
|
UTSW |
9 |
20,786,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5434:Angptl6
|
UTSW |
9 |
20,786,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6518:Angptl6
|
UTSW |
9 |
20,786,656 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7081:Angptl6
|
UTSW |
9 |
20,786,644 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7169:Angptl6
|
UTSW |
9 |
20,786,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8855:Angptl6
|
UTSW |
9 |
20,786,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8961:Angptl6
|
UTSW |
9 |
20,789,467 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Angptl6
|
UTSW |
9 |
20,789,707 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation