Incidental Mutation 'R6683:Aamp'
ID |
527562 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aamp
|
Ensembl Gene |
ENSMUSG00000006299 |
Gene Name |
angio-associated migratory protein |
Synonyms |
Aamp-rs |
MMRRC Submission |
044802-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.959)
|
Stock # |
R6683 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
74318999-74323897 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74321604 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 169
(E169G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136644
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006462]
[ENSMUST00000027370]
[ENSMUST00000077985]
[ENSMUST00000087226]
[ENSMUST00000113805]
[ENSMUST00000178235]
[ENSMUST00000187046]
[ENSMUST00000190008]
|
AlphaFold |
J3QN89 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006462
AA Change: E168G
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000006462 Gene: ENSMUSG00000006299 AA Change: E168G
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: 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: ENSMUST00000113805
|
SMART Domains |
Protein: ENSMUSP00000109436 Gene: ENSMUSG00000026179
Domain | Start | End | E-Value | Type |
Blast:Lactamase_B
|
4 |
79 |
4e-28 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129219
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178235
AA Change: E169G
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000136644 Gene: ENSMUSG00000006299 AA Change: E169G
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
AA Change: E107G
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000139411 Gene: ENSMUSG00000006299 AA Change: E107G
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190008
|
SMART Domains |
Protein: ENSMUSP00000140427 Gene: ENSMUSG00000006299
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
34 |
N/A |
INTRINSIC |
low complexity region
|
40 |
58 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191258
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152492
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186833
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187908
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138620
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat2 |
G |
A |
17: 13,162,814 (GRCm39) |
R377C |
probably benign |
Het |
Adgrg6 |
A |
G |
10: 14,331,911 (GRCm39) |
V398A |
probably damaging |
Het |
BC025920 |
A |
G |
10: 81,445,135 (GRCm39) |
H86R |
probably damaging |
Het |
BC028528 |
T |
C |
3: 95,795,539 (GRCm39) |
T88A |
probably damaging |
Het |
Creb3l4 |
T |
A |
3: 90,145,112 (GRCm39) |
T347S |
probably benign |
Het |
Dhcr7 |
T |
C |
7: 143,397,048 (GRCm39) |
V180A |
probably damaging |
Het |
Fam187a |
T |
C |
11: 102,777,015 (GRCm39) |
V273A |
probably damaging |
Het |
Hdgfl3 |
G |
A |
7: 81,550,101 (GRCm39) |
R78W |
possibly damaging |
Het |
Krt8 |
T |
C |
15: 101,906,439 (GRCm39) |
T357A |
probably benign |
Het |
Lkaaear1 |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,354 (GRCm39) |
|
probably benign |
Het |
Ly6d |
A |
T |
15: 74,634,299 (GRCm39) |
V97D |
probably benign |
Het |
Map3k13 |
T |
C |
16: 21,711,062 (GRCm39) |
I115T |
probably benign |
Het |
Muc2 |
G |
A |
7: 141,305,214 (GRCm39) |
V173I |
probably benign |
Het |
Nck2 |
T |
C |
1: 43,608,338 (GRCm39) |
S327P |
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,647,717 (GRCm39) |
R20G |
probably damaging |
Het |
Nlrp4f |
G |
A |
13: 65,347,009 (GRCm39) |
T83I |
probably benign |
Het |
Nploc4 |
A |
G |
11: 120,274,156 (GRCm39) |
S546P |
probably damaging |
Het |
Or1e1d-ps1 |
A |
G |
11: 73,818,939 (GRCm39) |
Y36C |
probably damaging |
Het |
Or51g2 |
C |
T |
7: 102,622,920 (GRCm39) |
R93Q |
probably benign |
Het |
Or52e8 |
C |
T |
7: 104,625,175 (GRCm39) |
V10I |
probably benign |
Het |
Or5b21 |
A |
G |
19: 12,840,014 (GRCm39) |
S292G |
probably damaging |
Het |
Panx1 |
T |
C |
9: 14,919,307 (GRCm39) |
E184G |
probably benign |
Het |
Parp14 |
T |
C |
16: 35,655,047 (GRCm39) |
Y1808C |
probably damaging |
Het |
Plcb1 |
A |
T |
2: 134,628,513 (GRCm39) |
S21C |
probably benign |
Het |
Ppil6 |
A |
G |
10: 41,374,427 (GRCm39) |
N103D |
probably benign |
Het |
Pth1r |
C |
T |
9: 110,556,319 (GRCm39) |
|
probably null |
Het |
Rapgef4 |
A |
T |
2: 71,885,123 (GRCm39) |
|
probably benign |
Het |
Rlf |
A |
G |
4: 121,005,123 (GRCm39) |
S1286P |
probably damaging |
Het |
Rnf217 |
A |
G |
10: 31,410,822 (GRCm39) |
V291A |
possibly damaging |
Het |
Serpina3a |
T |
C |
12: 104,085,896 (GRCm39) |
M117T |
probably benign |
Het |
St8sia4 |
T |
C |
1: 95,581,424 (GRCm39) |
D106G |
probably damaging |
Het |
Tjp2 |
A |
G |
19: 24,098,207 (GRCm39) |
I485T |
probably damaging |
Het |
Trdc |
T |
C |
14: 54,381,692 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,541,004 (GRCm39) |
L33994P |
probably damaging |
Het |
Vmn2r42 |
T |
A |
7: 8,187,224 (GRCm39) |
K799N |
probably damaging |
Het |
Zfp42 |
G |
A |
8: 43,749,093 (GRCm39) |
T136M |
possibly damaging |
Het |
Znhit1 |
A |
T |
5: 137,011,487 (GRCm39) |
S109T |
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 |
|
R6884:Aamp
|
UTSW |
1 |
74,323,407 (GRCm39) |
unclassified |
probably benign |
|
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'- TACCTAAGTCCATGAGCCTCATC -3'
(R):5'- TGGCCTCAAACTTGGTACATC -3'
Sequencing Primer
(F):5'- CATGAGCCTCATCTAAGGTGTGAC -3'
(R):5'- GGTACATCTCTTAGGCAAACTTGAG -3'
|
Posted On |
2018-07-23 |