Incidental Mutation 'R3040:Amotl1'
| ID |
264922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amotl1
|
| Ensembl Gene |
ENSMUSG00000013076 |
| Gene Name |
angiomotin-like 1 |
| Synonyms |
2310067L22Rik, JEAP, 2310010G08Rik, 4932416D09Rik |
| MMRRC Submission |
040556-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R3040 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
14453262-14556352 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 14484069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 498
(V498G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013220]
[ENSMUST00000223132]
|
| AlphaFold |
Q9D4H4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013220
AA Change: V498G
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000013220
Gene: ENSMUSG00000013076
AA Change: V498G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
203 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
441 |
N/A |
INTRINSIC |
|
coiled coil region
|
449 |
472 |
N/A |
INTRINSIC |
|
Blast:PAC
|
491 |
532 |
1e-10 |
BLAST |
|
low complexity region
|
562 |
575 |
N/A |
INTRINSIC |
|
Pfam:Angiomotin_C
|
616 |
822 |
4.4e-96 |
PFAM |
|
low complexity region
|
853 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
881 |
895 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160770
|
| SMART Domains |
Protein: ENSMUSP00000124281
Gene: ENSMUSG00000013076
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
117 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
355 |
N/A |
INTRINSIC |
|
coiled coil region
|
363 |
386 |
N/A |
INTRINSIC |
|
Blast:PAC
|
405 |
446 |
1e-10 |
BLAST |
|
low complexity region
|
476 |
489 |
N/A |
INTRINSIC |
|
Pfam:Angiomotin_C
|
530 |
738 |
5.2e-95 |
PFAM |
|
low complexity region
|
767 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
795 |
809 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223132
AA Change: V535G
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ampd2 |
A |
G |
3: 107,983,732 (GRCm39) |
Y602H |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Ccar1 |
G |
T |
10: 62,592,273 (GRCm39) |
H760N |
possibly damaging |
Het |
| Cyp2c50 |
A |
G |
19: 40,086,570 (GRCm39) |
N319S |
probably benign |
Het |
| Dcdc2c |
G |
C |
12: 28,602,181 (GRCm39) |
A41G |
probably damaging |
Het |
| Dzip3 |
G |
A |
16: 48,748,687 (GRCm39) |
S1083F |
probably damaging |
Het |
| Etfdh |
C |
T |
3: 79,512,226 (GRCm39) |
R498Q |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,226,459 (GRCm39) |
C772S |
probably damaging |
Het |
| Gask1b |
T |
A |
3: 79,794,432 (GRCm39) |
I300N |
possibly damaging |
Het |
| Gdap2 |
T |
C |
3: 100,095,351 (GRCm39) |
|
probably null |
Het |
| Iqcj |
T |
C |
3: 67,962,675 (GRCm39) |
S79P |
probably damaging |
Het |
| Isg20l2 |
T |
C |
3: 87,839,302 (GRCm39) |
V171A |
probably benign |
Het |
| Kcna7 |
GGCTGCGCGGTGCCGCCCGAGCGGCCGCTGC |
GGCTGC |
7: 45,056,212 (GRCm39) |
|
probably null |
Het |
| Luc7l |
A |
T |
17: 26,496,593 (GRCm39) |
|
probably benign |
Het |
| Mepe |
T |
G |
5: 104,485,988 (GRCm39) |
L376R |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Nedd4 |
T |
C |
9: 72,577,243 (GRCm39) |
F23L |
probably benign |
Het |
| Neurl1a |
T |
C |
19: 47,228,270 (GRCm39) |
S22P |
probably benign |
Het |
| Pramel51 |
A |
T |
12: 88,145,118 (GRCm39) |
S69R |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,476,317 (GRCm39) |
V470A |
probably benign |
Het |
| Pyroxd2 |
G |
T |
19: 42,723,957 (GRCm39) |
Q323K |
probably benign |
Het |
| Slf2 |
A |
G |
19: 44,969,008 (GRCm39) |
D1157G |
probably damaging |
Het |
| Styxl1 |
C |
T |
5: 135,785,887 (GRCm39) |
A197T |
probably damaging |
Het |
| Tmem70 |
C |
T |
1: 16,737,989 (GRCm39) |
T100M |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,719,966 (GRCm39) |
V309A |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
| Vmn1r122 |
G |
C |
7: 20,867,371 (GRCm39) |
P228R |
probably benign |
Het |
|
| Other mutations in Amotl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02157:Amotl1
|
APN |
9 |
14,483,011 (GRCm39) |
splice site |
probably benign |
|
|
IGL02750:Amotl1
|
APN |
9 |
14,460,087 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0071:Amotl1
|
UTSW |
9 |
14,460,069 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0071:Amotl1
|
UTSW |
9 |
14,460,069 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0094:Amotl1
|
UTSW |
9 |
14,486,683 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0094:Amotl1
|
UTSW |
9 |
14,486,683 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0178:Amotl1
|
UTSW |
9 |
14,460,069 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0179:Amotl1
|
UTSW |
9 |
14,460,069 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0853:Amotl1
|
UTSW |
9 |
14,504,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0941:Amotl1
|
UTSW |
9 |
14,507,854 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1447:Amotl1
|
UTSW |
9 |
14,467,038 (GRCm39) |
missense |
probably benign |
|
|
R1689:Amotl1
|
UTSW |
9 |
14,504,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1692:Amotl1
|
UTSW |
9 |
14,463,018 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1858:Amotl1
|
UTSW |
9 |
14,486,697 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2158:Amotl1
|
UTSW |
9 |
14,486,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2184:Amotl1
|
UTSW |
9 |
14,486,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4226:Amotl1
|
UTSW |
9 |
14,504,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4776:Amotl1
|
UTSW |
9 |
14,504,669 (GRCm39) |
nonsense |
probably null |
|
|
R4854:Amotl1
|
UTSW |
9 |
14,504,747 (GRCm39) |
nonsense |
probably null |
|
|
R5283:Amotl1
|
UTSW |
9 |
14,469,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5478:Amotl1
|
UTSW |
9 |
14,504,048 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5562:Amotl1
|
UTSW |
9 |
14,486,593 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5970:Amotl1
|
UTSW |
9 |
14,507,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6265:Amotl1
|
UTSW |
9 |
14,482,951 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6974:Amotl1
|
UTSW |
9 |
14,556,216 (GRCm39) |
nonsense |
probably null |
|
|
R7016:Amotl1
|
UTSW |
9 |
14,504,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7058:Amotl1
|
UTSW |
9 |
14,486,532 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7317:Amotl1
|
UTSW |
9 |
14,486,515 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7730:Amotl1
|
UTSW |
9 |
14,467,059 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7994:Amotl1
|
UTSW |
9 |
14,504,657 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7996:Amotl1
|
UTSW |
9 |
14,505,001 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8077:Amotl1
|
UTSW |
9 |
14,461,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8116:Amotl1
|
UTSW |
9 |
14,466,868 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8140:Amotl1
|
UTSW |
9 |
14,484,011 (GRCm39) |
splice site |
probably null |
|
|
R8362:Amotl1
|
UTSW |
9 |
14,556,218 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8364:Amotl1
|
UTSW |
9 |
14,556,218 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8526:Amotl1
|
UTSW |
9 |
14,473,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8855:Amotl1
|
UTSW |
9 |
14,466,869 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8904:Amotl1
|
UTSW |
9 |
14,469,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9179:Amotl1
|
UTSW |
9 |
14,461,787 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9228:Amotl1
|
UTSW |
9 |
14,504,320 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9361:Amotl1
|
UTSW |
9 |
14,504,677 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9513:Amotl1
|
UTSW |
9 |
14,526,063 (GRCm39) |
missense |
probably benign |
|
|
R9563:Amotl1
|
UTSW |
9 |
14,473,513 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9564:Amotl1
|
UTSW |
9 |
14,473,513 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9620:Amotl1
|
UTSW |
9 |
14,459,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9654:Amotl1
|
UTSW |
9 |
14,462,981 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9750:Amotl1
|
UTSW |
9 |
14,504,102 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGATCGATTTTCAGAGCCA -3'
(R):5'- ATATGAATGAAGGCTGAGGCATA -3'
Sequencing Primer
(F):5'- TCAAAAGTCATCCTCTGCAGTG -3'
(R):5'- CTGAGGCATAGAAAGACATCCGTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation