Incidental Mutation 'R6884:Aamp'
| ID |
536823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aamp
|
| Ensembl Gene |
ENSMUSG00000006299 |
| Gene Name |
angio-associated migratory protein |
| Synonyms |
Aamp-rs |
| MMRRC Submission |
044979-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R6884 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74318999-74323897 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 74323407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006462]
[ENSMUST00000016309]
[ENSMUST00000027370]
[ENSMUST00000077985]
[ENSMUST00000087226]
[ENSMUST00000113796]
[ENSMUST00000113805]
[ENSMUST00000190008]
[ENSMUST00000178235]
[ENSMUST00000187046]
|
| AlphaFold |
J3QN89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006462
|
| SMART Domains |
Protein: ENSMUSP00000006462
Gene: ENSMUSG00000006299
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
64 |
N/A |
INTRINSIC |
|
WD40
|
81 |
121 |
2.76e-2 |
SMART |
|
WD40
|
124 |
163 |
4.83e-7 |
SMART |
|
WD40
|
166 |
203 |
7.96e0 |
SMART |
|
WD40
|
205 |
244 |
2.51e-5 |
SMART |
|
WD40
|
247 |
289 |
2.38e-6 |
SMART |
|
WD40
|
292 |
346 |
2.47e1 |
SMART |
|
WD40
|
349 |
387 |
2.61e-3 |
SMART |
|
WD40
|
390 |
429 |
1.75e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016309
|
| SMART Domains |
Protein: ENSMUSP00000016309
Gene: ENSMUSG00000006301
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
65 |
N/A |
INTRINSIC |
|
Pfam:Bax1-I
|
94 |
305 |
1.3e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027370
|
| SMART Domains |
Protein: ENSMUSP00000027370
Gene: ENSMUSG00000026179
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Lactamase_B
|
4 |
79 |
1e-24 |
BLAST |
|
Lactamase_B
|
129 |
291 |
1.05e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077985
|
| SMART Domains |
Protein: ENSMUSP00000077135
Gene: ENSMUSG00000064272
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
30 |
264 |
7.2e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087226
|
| SMART Domains |
Protein: ENSMUSP00000084478
Gene: ENSMUSG00000026179
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
61 |
N/A |
INTRINSIC |
|
Pfam:DUF4748
|
71 |
121 |
2.9e-23 |
PFAM |
|
Lactamase_B
|
168 |
330 |
1.05e-31 |
SMART |
|
Pfam:HAGH_C
|
331 |
421 |
6.2e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113796
|
| SMART Domains |
Protein: ENSMUSP00000109427
Gene: ENSMUSG00000006301
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
65 |
N/A |
INTRINSIC |
|
Pfam:Bax1-I
|
94 |
305 |
4.6e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113805
|
| SMART Domains |
Protein: ENSMUSP00000109436
Gene: ENSMUSG00000026179
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Lactamase_B
|
4 |
79 |
4e-28 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000190008
AA Change: V10A
|
| SMART Domains |
Protein: ENSMUSP00000140427
Gene: ENSMUSG00000006299
AA Change: V10A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
58 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178235
|
| SMART Domains |
Protein: ENSMUSP00000136644
Gene: ENSMUSG00000006299
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
65 |
N/A |
INTRINSIC |
|
WD40
|
82 |
122 |
2.76e-2 |
SMART |
|
WD40
|
125 |
164 |
4.83e-7 |
SMART |
|
WD40
|
167 |
204 |
7.96e0 |
SMART |
|
WD40
|
206 |
245 |
2.51e-5 |
SMART |
|
WD40
|
248 |
290 |
2.38e-6 |
SMART |
|
WD40
|
293 |
347 |
2.47e1 |
SMART |
|
WD40
|
350 |
388 |
2.61e-3 |
SMART |
|
WD40
|
391 |
430 |
1.75e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187046
|
| SMART Domains |
Protein: ENSMUSP00000139411
Gene: ENSMUSG00000006299
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
20 |
60 |
1.7e-4 |
SMART |
|
WD40
|
63 |
102 |
3e-9 |
SMART |
|
WD40
|
120 |
160 |
1.7e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the immunoglobulin superfamily. The encoded protein is associated with angiogenesis, with potential roles in endothelial tube formation and the migration of endothelial cells. It may also regulate smooth muscle cell migration via the RhoA pathway. The encoded protein can bind to heparin and may mediate heparin-sensitive cell adhesion. [provided by RefSeq, Oct 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
C |
T |
11: 110,220,043 (GRCm39) |
V8M |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,741,863 (GRCm39) |
D736E |
possibly damaging |
Het |
| Brpf3 |
A |
G |
17: 29,050,324 (GRCm39) |
D1072G |
probably benign |
Het |
| Cacna1i |
C |
T |
15: 80,259,010 (GRCm39) |
R1240C |
probably damaging |
Het |
| Ccdc40 |
A |
T |
11: 119,133,565 (GRCm39) |
E568D |
possibly damaging |
Het |
| Col12a1 |
C |
T |
9: 79,547,091 (GRCm39) |
G2247E |
possibly damaging |
Het |
| Dapk3 |
T |
A |
10: 81,027,588 (GRCm39) |
|
probably null |
Het |
| Dcaf13 |
T |
C |
15: 38,986,635 (GRCm39) |
W136R |
probably damaging |
Het |
| Dip2a |
C |
A |
10: 76,108,366 (GRCm39) |
|
probably null |
Het |
| Eif3c |
T |
C |
7: 126,156,051 (GRCm39) |
D473G |
probably benign |
Het |
| Erich2 |
G |
A |
2: 70,339,505 (GRCm39) |
R20H |
possibly damaging |
Het |
| Gcnt7 |
T |
C |
2: 172,296,125 (GRCm39) |
N233S |
probably damaging |
Het |
| Gdpd4 |
G |
T |
7: 97,621,382 (GRCm39) |
L208F |
probably damaging |
Het |
| Gm10269 |
T |
A |
18: 20,815,932 (GRCm39) |
Q30L |
possibly damaging |
Het |
| Gm7298 |
A |
T |
6: 121,737,480 (GRCm39) |
I295F |
possibly damaging |
Het |
| Htr7 |
A |
G |
19: 35,941,779 (GRCm39) |
|
probably null |
Het |
| Ing1 |
A |
G |
8: 11,611,916 (GRCm39) |
Y118C |
probably damaging |
Het |
| Krtap16-1 |
C |
T |
11: 99,877,284 (GRCm39) |
W40* |
probably null |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,467 (GRCm39) |
D51E |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,394,986 (GRCm39) |
Q2513L |
probably benign |
Het |
| Morf4l1 |
A |
T |
9: 89,976,532 (GRCm39) |
N265K |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,952,904 (GRCm39) |
D299G |
probably benign |
Het |
| Mtcl1 |
C |
T |
17: 66,745,197 (GRCm39) |
G55R |
probably damaging |
Het |
| Myb |
T |
A |
10: 21,028,431 (GRCm39) |
K144I |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,709,875 (GRCm39) |
I587T |
possibly damaging |
Het |
| Nr2c2 |
A |
G |
6: 92,135,374 (GRCm39) |
S288G |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,969,128 (GRCm39) |
Y2700H |
probably damaging |
Het |
| Or2z9 |
T |
C |
8: 72,854,345 (GRCm39) |
V247A |
probably benign |
Het |
| Or6c3 |
T |
A |
10: 129,309,023 (GRCm39) |
F154Y |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,536,574 (GRCm39) |
D90G |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,022,627 (GRCm39) |
F315L |
possibly damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Ret |
T |
C |
6: 118,132,362 (GRCm39) |
D1026G |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,303,096 (GRCm39) |
Q143L |
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,272,910 (GRCm39) |
E210G |
probably benign |
Het |
| Serpina1b |
T |
A |
12: 103,698,712 (GRCm39) |
T46S |
probably benign |
Het |
| Serpinb9e |
A |
T |
13: 33,435,609 (GRCm39) |
H14L |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,059,652 (GRCm39) |
S1003P |
possibly damaging |
Het |
| Slc25a25 |
A |
C |
2: 32,310,674 (GRCm39) |
V168G |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,238,726 (GRCm39) |
T261A |
possibly damaging |
Het |
| Spocd1 |
T |
C |
4: 129,849,197 (GRCm39) |
|
probably benign |
Het |
| Tmem222 |
A |
T |
4: 132,995,514 (GRCm39) |
Y178N |
probably damaging |
Het |
| Top1mt |
C |
T |
15: 75,535,893 (GRCm39) |
E470K |
probably benign |
Het |
| Traj42 |
T |
C |
14: 54,413,290 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
C |
12: 91,504,876 (GRCm39) |
Y13H |
probably damaging |
Het |
| Uvssa |
A |
G |
5: 33,566,461 (GRCm39) |
|
probably null |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,633 (GRCm39) |
V159I |
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,213 (GRCm39) |
T700S |
probably benign |
Het |
|
| Other mutations in Aamp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Aamp
|
APN |
1 |
74,320,595 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02476:Aamp
|
APN |
1 |
74,320,683 (GRCm39) |
unclassified |
probably benign |
|
|
R0960:Aamp
|
UTSW |
1 |
74,320,304 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1590:Aamp
|
UTSW |
1 |
74,322,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2138:Aamp
|
UTSW |
1 |
74,323,122 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4112:Aamp
|
UTSW |
1 |
74,320,386 (GRCm39) |
unclassified |
probably benign |
|
|
R4223:Aamp
|
UTSW |
1 |
74,320,285 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5049:Aamp
|
UTSW |
1 |
74,321,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5283:Aamp
|
UTSW |
1 |
74,323,165 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6353:Aamp
|
UTSW |
1 |
74,319,987 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6526:Aamp
|
UTSW |
1 |
74,323,331 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6683:Aamp
|
UTSW |
1 |
74,321,604 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7141:Aamp
|
UTSW |
1 |
74,323,270 (GRCm39) |
splice site |
probably null |
|
|
R9139:Aamp
|
UTSW |
1 |
74,320,705 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9596:Aamp
|
UTSW |
1 |
74,320,262 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCGTTAAAAGATGGAGCTCC -3'
(R):5'- TGAGAACTGACGCTCCTGAG -3'
Sequencing Primer
(F):5'- TGGAGCTCCAAAGATAATACAAGG -3'
(R):5'- GGACAAGAGGCGCTCAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation