Incidental Mutation 'R4536:Amot'
| ID |
333353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amot
|
| Ensembl Gene |
ENSMUSG00000041688 |
| Gene Name |
angiomotin |
| Synonyms |
E230009N18Rik, D0Kist1, Sii6 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.761)
|
| Stock # |
R4536 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
144229420-144288145 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144263138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 398
(S398P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112835]
[ENSMUST00000112836]
[ENSMUST00000143610]
|
| AlphaFold |
Q8VHG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112835
AA Change: S9P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000108454
Gene: ENSMUSG00000041688
AA Change: S9P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
20 |
61 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
75 |
95 |
9.29e-5 |
PROSPERO |
|
low complexity region
|
140 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
186 |
N/A |
INTRINSIC |
|
Pfam:Angiomotin_C
|
189 |
398 |
1.4e-100 |
PFAM |
|
low complexity region
|
426 |
442 |
N/A |
INTRINSIC |
|
SCOP:d1gkub1
|
513 |
546 |
9e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112836
AA Change: S398P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000108455
Gene: ENSMUSG00000041688
AA Change: S398P
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
152 |
207 |
2.13e-5 |
PROSPERO |
|
low complexity region
|
321 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
365 |
N/A |
INTRINSIC |
|
coiled coil region
|
409 |
450 |
N/A |
INTRINSIC |
|
Blast:PAC
|
452 |
493 |
6e-12 |
BLAST |
|
low complexity region
|
529 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
575 |
N/A |
INTRINSIC |
|
Pfam:Angiomotin_C
|
578 |
785 |
6.1e-97 |
PFAM |
|
low complexity region
|
815 |
831 |
N/A |
INTRINSIC |
|
low complexity region
|
862 |
1063 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000125271
AA Change: S200P
|
| SMART Domains |
Protein: ENSMUSP00000116189
Gene: ENSMUSG00000041688
AA Change: S200P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
168 |
N/A |
INTRINSIC |
|
coiled coil region
|
211 |
252 |
N/A |
INTRINSIC |
|
Blast:PAC
|
255 |
296 |
6e-12 |
BLAST |
|
low complexity region
|
332 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
378 |
N/A |
INTRINSIC |
|
Pfam:Angiomotin_C
|
381 |
588 |
2e-97 |
PFAM |
|
low complexity region
|
618 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
866 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000138187
AA Change: S216P
|
| SMART Domains |
Protein: ENSMUSP00000117777
Gene: ENSMUSG00000041688
AA Change: S216P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
140 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
166 |
184 |
N/A |
INTRINSIC |
|
coiled coil region
|
227 |
268 |
N/A |
INTRINSIC |
|
Blast:PAC
|
271 |
312 |
5e-12 |
BLAST |
|
low complexity region
|
348 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
394 |
N/A |
INTRINSIC |
|
Pfam:Angiomotin_C
|
397 |
604 |
1.1e-97 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143610
AA Change: S398P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120226
Gene: ENSMUSG00000041688
AA Change: S398P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
321 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
365 |
N/A |
INTRINSIC |
|
coiled coil region
|
409 |
450 |
N/A |
INTRINSIC |
|
Blast:PAC
|
452 |
493 |
2e-12 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null mutation exhibit impaired migration into proximal extraembryonic regions resulting in furrows of visceral endoderm at the junction of embryonic and extraembryonic regions, vascular insufficiency in the intersomitic region, dilated vessels in the brain and embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef17 |
G |
C |
7: 100,579,061 (GRCm39) |
S629C |
probably damaging |
Het |
| Atg5lrt |
G |
A |
10: 95,972,564 (GRCm39) |
A34T |
probably benign |
Het |
| Atp5if1 |
A |
C |
4: 132,260,870 (GRCm39) |
S4A |
possibly damaging |
Het |
| Atp8b2 |
G |
A |
3: 89,849,091 (GRCm39) |
A1081V |
probably benign |
Het |
| Atr |
A |
G |
9: 95,756,471 (GRCm39) |
D867G |
probably benign |
Het |
| C1qtnf3 |
G |
A |
15: 10,972,113 (GRCm39) |
S206N |
probably damaging |
Het |
| Cep152 |
A |
C |
2: 125,444,867 (GRCm39) |
|
probably null |
Het |
| Cetn1 |
T |
C |
18: 9,618,998 (GRCm39) |
E141G |
probably damaging |
Het |
| Dennd2b |
A |
T |
7: 109,130,363 (GRCm39) |
S879R |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,385,781 (GRCm39) |
N269K |
probably damaging |
Het |
| Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
| Frmd4b |
T |
A |
6: 97,287,693 (GRCm39) |
Q241L |
possibly damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
| Gls2 |
G |
A |
10: 128,036,806 (GRCm39) |
V196I |
probably benign |
Het |
| Hormad1 |
T |
C |
3: 95,492,452 (GRCm39) |
V343A |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
| Klhl1 |
A |
C |
14: 96,374,019 (GRCm39) |
|
probably null |
Het |
| Mettl4 |
C |
A |
17: 95,042,933 (GRCm39) |
S301I |
possibly damaging |
Het |
| Mlxip |
G |
A |
5: 123,588,566 (GRCm39) |
D819N |
probably damaging |
Het |
| Or10d5 |
A |
T |
9: 39,861,731 (GRCm39) |
L112Q |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,772,424 (GRCm39) |
K440* |
probably null |
Het |
| Phldb2 |
T |
C |
16: 45,591,044 (GRCm39) |
M996V |
probably benign |
Het |
| Pira13 |
T |
A |
7: 3,825,251 (GRCm39) |
M464L |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,850 (GRCm39) |
S591G |
possibly damaging |
Het |
| Rfx6 |
A |
G |
10: 51,599,880 (GRCm39) |
N542S |
probably benign |
Het |
| Slc44a4 |
T |
A |
17: 35,142,815 (GRCm39) |
C254S |
probably damaging |
Het |
| Sptbn2 |
C |
T |
19: 4,782,630 (GRCm39) |
A522V |
probably damaging |
Het |
| Syt10 |
C |
T |
15: 89,666,825 (GRCm39) |
D509N |
probably damaging |
Het |
| Tango2 |
A |
G |
16: 18,142,219 (GRCm39) |
|
probably null |
Het |
| Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
| Trafd1 |
T |
C |
5: 121,517,746 (GRCm39) |
|
probably null |
Het |
| Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
| Tysnd1 |
G |
A |
10: 61,531,832 (GRCm39) |
W161* |
probably null |
Het |
| Uggt2 |
A |
T |
14: 119,256,970 (GRCm39) |
M1088K |
probably benign |
Het |
|
| Other mutations in Amot |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02143:Amot
|
APN |
X |
144,270,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Amot
|
UTSW |
X |
144,233,585 (GRCm39) |
unclassified |
probably benign |
|
|
R2426:Amot
|
UTSW |
X |
144,259,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9165:Amot
|
UTSW |
X |
144,244,745 (GRCm39) |
missense |
|
|
|
R9166:Amot
|
UTSW |
X |
144,244,745 (GRCm39) |
missense |
|
|
|
R9167:Amot
|
UTSW |
X |
144,244,745 (GRCm39) |
missense |
|
|
|
R9169:Amot
|
UTSW |
X |
144,244,745 (GRCm39) |
missense |
|
|
|
R9170:Amot
|
UTSW |
X |
144,244,745 (GRCm39) |
missense |
|
|
|
R9171:Amot
|
UTSW |
X |
144,244,745 (GRCm39) |
missense |
|
|
|
RF023:Amot
|
UTSW |
X |
144,233,999 (GRCm39) |
unclassified |
probably benign |
|
|
RF029:Amot
|
UTSW |
X |
144,233,984 (GRCm39) |
unclassified |
probably benign |
|
|
RF035:Amot
|
UTSW |
X |
144,233,984 (GRCm39) |
unclassified |
probably benign |
|
|
RF050:Amot
|
UTSW |
X |
144,233,999 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Amot
|
UTSW |
X |
144,263,454 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGTTGAACTGACTGACCCTC -3'
(R):5'- ACTTCTTCCCTGACAGCTGG -3'
Sequencing Primer
(F):5'- CAGGGGGAGCCGTACCTTC -3'
(R):5'- TGGTCAACACCTGGTCTCGAAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation