Incidental Mutation 'R3436:Angptl3'
| ID |
267183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Angptl3
|
| Ensembl Gene |
ENSMUSG00000028553 |
| Gene Name |
angiopoietin-like 3 |
| Synonyms |
hypl |
| MMRRC Submission |
040654-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
R3436 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
98919191-98926429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98921540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 219
(K219N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030280]
[ENSMUST00000030286]
[ENSMUST00000075836]
[ENSMUST00000127417]
[ENSMUST00000205650]
|
| AlphaFold |
Q9R182 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030280
AA Change: K219N
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000030280
Gene: ENSMUSG00000028553
AA Change: K219N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
131 |
N/A |
INTRINSIC |
|
Blast:FBG
|
195 |
240 |
6e-8 |
BLAST |
|
FBG
|
241 |
454 |
1.5e-58 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030286
|
| SMART Domains |
Protein: ENSMUSP00000030286
Gene: ENSMUSG00000028556
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3398
|
67 |
159 |
6.5e-30 |
PFAM |
|
coiled coil region
|
367 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
504 |
N/A |
INTRINSIC |
|
Pfam:DOCK-C2
|
557 |
736 |
1.8e-51 |
PFAM |
|
low complexity region
|
789 |
799 |
N/A |
INTRINSIC |
|
low complexity region
|
862 |
873 |
N/A |
INTRINSIC |
|
low complexity region
|
888 |
901 |
N/A |
INTRINSIC |
|
low complexity region
|
1135 |
1163 |
N/A |
INTRINSIC |
|
low complexity region
|
1350 |
1364 |
N/A |
INTRINSIC |
|
low complexity region
|
1543 |
1565 |
N/A |
INTRINSIC |
|
Pfam:DHR-2
|
1571 |
2095 |
1.4e-217 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075836
|
| SMART Domains |
Protein: ENSMUSP00000075233
Gene: ENSMUSG00000028556
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3398
|
65 |
159 |
5.8e-34 |
PFAM |
|
coiled coil region
|
367 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
504 |
N/A |
INTRINSIC |
|
Pfam:DOCK-C2
|
556 |
737 |
3.3e-58 |
PFAM |
|
low complexity region
|
789 |
799 |
N/A |
INTRINSIC |
|
low complexity region
|
862 |
873 |
N/A |
INTRINSIC |
|
low complexity region
|
888 |
901 |
N/A |
INTRINSIC |
|
low complexity region
|
1105 |
1133 |
N/A |
INTRINSIC |
|
low complexity region
|
1320 |
1334 |
N/A |
INTRINSIC |
|
low complexity region
|
1513 |
1535 |
N/A |
INTRINSIC |
|
Pfam:Ded_cyto
|
1888 |
2065 |
6.5e-80 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125546
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127417
|
| SMART Domains |
Protein: ENSMUSP00000117797
Gene: ENSMUSG00000028556
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
140 |
162 |
N/A |
INTRINSIC |
|
Pfam:Ded_cyto
|
517 |
694 |
3e-80 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131386
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136091
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205650
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the angiopoietin-like family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may inhibit triglyceride metabolism. Homozygous knockout mice for this gene exhibit reduced plasma lipid concentrations, including reduced plasma triglyceride concentrations, and enhanced activity of enzymes involved in triglyceride metabolism. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a disruption in this gene display decreased plasma cholesterol and triglyceride levels. A spontaneous mutation results in a similar phenotype except that there is also a reduction in fat pad weight and decreased free fatty acid levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambp |
T |
C |
4: 63,067,721 (GRCm39) |
E163G |
probably benign |
Het |
| Atp6v1g1 |
A |
G |
4: 63,468,255 (GRCm39) |
N86S |
probably benign |
Het |
| Cadps |
A |
T |
14: 12,616,158 (GRCm38) |
|
probably null |
Het |
| Ccdc146 |
A |
G |
5: 21,502,003 (GRCm39) |
S804P |
possibly damaging |
Het |
| Cdc20b |
T |
C |
13: 113,215,233 (GRCm39) |
I267T |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 100,127,350 (GRCm39) |
|
probably benign |
Het |
| Dse |
G |
T |
10: 34,028,470 (GRCm39) |
N873K |
probably benign |
Het |
| Ehd1 |
G |
T |
19: 6,327,044 (GRCm39) |
E14* |
probably null |
Het |
| F8 |
A |
G |
X: 74,311,030 (GRCm39) |
|
probably benign |
Het |
| Flnb |
T |
C |
14: 7,942,057 (GRCm38) |
V2345A |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,969,189 (GRCm39) |
K1559E |
probably damaging |
Het |
| Ighg1 |
T |
C |
12: 113,293,180 (GRCm39) |
E170G |
probably damaging |
Het |
| Kmt2b |
G |
T |
7: 30,276,117 (GRCm39) |
P1794Q |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Med25 |
C |
A |
7: 44,535,314 (GRCm39) |
R37L |
possibly damaging |
Het |
| Optc |
T |
C |
1: 133,825,617 (GRCm39) |
D303G |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,323 (GRCm39) |
I92V |
probably damaging |
Het |
| Or2n1e |
G |
A |
17: 38,586,421 (GRCm39) |
G253D |
probably damaging |
Het |
| Or4c102 |
T |
A |
2: 88,422,448 (GRCm39) |
F100Y |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,478 (GRCm39) |
N1271D |
probably benign |
Het |
| Plpp2 |
A |
T |
10: 79,363,647 (GRCm39) |
|
probably null |
Het |
| Polq |
A |
T |
16: 36,882,699 (GRCm39) |
N1342I |
probably damaging |
Het |
| Prr16 |
A |
G |
18: 51,436,195 (GRCm39) |
N225D |
probably benign |
Het |
| Pwwp2a |
C |
T |
11: 43,597,015 (GRCm39) |
Q452* |
probably null |
Het |
| Slfn2 |
A |
T |
11: 82,960,390 (GRCm39) |
H123L |
probably benign |
Het |
| Sort1 |
T |
A |
3: 108,245,123 (GRCm39) |
I325N |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,335,156 (GRCm39) |
Y654C |
probably damaging |
Het |
| Tmprss11b |
A |
T |
5: 86,815,443 (GRCm39) |
Y48* |
probably null |
Het |
| Tpp2 |
T |
C |
1: 43,979,304 (GRCm39) |
I67T |
probably damaging |
Het |
| Trdn |
G |
A |
10: 33,344,191 (GRCm39) |
|
probably null |
Het |
| Trim14 |
C |
T |
4: 46,523,739 (GRCm39) |
V100I |
possibly damaging |
Het |
| Trim17 |
T |
C |
11: 58,856,059 (GRCm39) |
C39R |
probably damaging |
Het |
| Trim52 |
C |
T |
14: 106,344,741 (GRCm39) |
P133L |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,097,028 (GRCm39) |
|
probably benign |
Het |
| Vmn2r94 |
G |
A |
17: 18,478,650 (GRCm39) |
|
probably benign |
Het |
| Vsig4 |
A |
G |
X: 95,334,422 (GRCm39) |
V29A |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,405,866 (GRCm39) |
I454N |
probably benign |
Het |
| Wnk3 |
T |
A |
X: 150,069,300 (GRCm39) |
F886I |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,096,644 (GRCm39) |
|
probably null |
Het |
| Zfp507 |
A |
T |
7: 35,487,195 (GRCm39) |
Y234N |
probably damaging |
Het |
|
| Other mutations in Angptl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00583:Angptl3
|
APN |
4 |
98,923,077 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01859:Angptl3
|
APN |
4 |
98,925,669 (GRCm39) |
nonsense |
probably null |
|
|
IGL02126:Angptl3
|
APN |
4 |
98,919,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02134:Angptl3
|
APN |
4 |
98,919,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02573:Angptl3
|
APN |
4 |
98,926,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02756:Angptl3
|
APN |
4 |
98,919,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03369:Angptl3
|
APN |
4 |
98,923,057 (GRCm39) |
intron |
probably benign |
|
|
R0309:Angptl3
|
UTSW |
4 |
98,922,706 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0549:Angptl3
|
UTSW |
4 |
98,919,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0675:Angptl3
|
UTSW |
4 |
98,921,499 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1465:Angptl3
|
UTSW |
4 |
98,925,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1465:Angptl3
|
UTSW |
4 |
98,925,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1738:Angptl3
|
UTSW |
4 |
98,921,499 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2007:Angptl3
|
UTSW |
4 |
98,925,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2656:Angptl3
|
UTSW |
4 |
98,926,201 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3437:Angptl3
|
UTSW |
4 |
98,921,540 (GRCm39) |
missense |
probably benign |
0.24 |
|
R3615:Angptl3
|
UTSW |
4 |
98,922,702 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3616:Angptl3
|
UTSW |
4 |
98,922,702 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4161:Angptl3
|
UTSW |
4 |
98,919,728 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4534:Angptl3
|
UTSW |
4 |
98,926,232 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4615:Angptl3
|
UTSW |
4 |
98,919,598 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4835:Angptl3
|
UTSW |
4 |
98,925,649 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5308:Angptl3
|
UTSW |
4 |
98,922,723 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5413:Angptl3
|
UTSW |
4 |
98,919,259 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5668:Angptl3
|
UTSW |
4 |
98,920,321 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5906:Angptl3
|
UTSW |
4 |
98,925,804 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6520:Angptl3
|
UTSW |
4 |
98,926,085 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6544:Angptl3
|
UTSW |
4 |
98,919,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6762:Angptl3
|
UTSW |
4 |
98,925,654 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7889:Angptl3
|
UTSW |
4 |
98,919,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8305:Angptl3
|
UTSW |
4 |
98,919,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8690:Angptl3
|
UTSW |
4 |
98,925,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9284:Angptl3
|
UTSW |
4 |
98,919,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Angptl3
|
UTSW |
4 |
98,922,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTCAAGAACAGAATGTCAGTC -3'
(R):5'- AACATTTGGTGATGGCATTTGC -3'
Sequencing Primer
(F):5'- TTGCTTGCTCGCAGAACG -3'
(R):5'- GAGAAAACTGCCCGGATT -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation