Incidental Mutation 'R0960:Aamp'
| ID |
81805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aamp
|
| Ensembl Gene |
ENSMUSG00000006299 |
| Gene Name |
angio-associated migratory protein |
| Synonyms |
Aamp-rs |
| MMRRC Submission |
039089-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R0960 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74318999-74323897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74320304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 341
(T341A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006462
(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: T341A
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000006462
Gene: ENSMUSG00000006299
AA Change: T341A
| 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 |
noncoding transcript
Transcript: ENSMUST00000138620
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178235
AA Change: T342A
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000136644
Gene: ENSMUSG00000006299
AA Change: T342A
| 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 |
unknown
Transcript: ENSMUST00000187046
AA Change: T155A
|
| SMART Domains |
Protein: ENSMUSP00000139411
Gene: ENSMUSG00000006299
AA Change: T155A
| 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 |
noncoding transcript
Transcript: ENSMUST00000186833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152492
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187908
|
| 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 |
|
| Meta Mutation Damage Score |
0.0903 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| Validation Efficiency |
98% (49/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,792 (GRCm39) |
V256A |
probably benign |
Het |
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| 4930474N05Rik |
C |
A |
14: 35,818,367 (GRCm39) |
H122N |
probably benign |
Het |
| Adam26a |
A |
T |
8: 44,021,800 (GRCm39) |
H563Q |
probably damaging |
Het |
| Ankrd13a |
G |
A |
5: 114,924,868 (GRCm39) |
E118K |
probably benign |
Het |
| Asic5 |
A |
G |
3: 81,913,847 (GRCm39) |
I174V |
probably benign |
Het |
| Atad2b |
G |
A |
12: 5,056,593 (GRCm39) |
|
probably benign |
Het |
| Bub1b |
A |
G |
2: 118,437,161 (GRCm39) |
I120V |
probably benign |
Het |
| Casp8 |
T |
C |
1: 58,868,172 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
A |
G |
4: 70,161,745 (GRCm39) |
Y254H |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,479,756 (GRCm39) |
I996T |
probably benign |
Het |
| Cntn6 |
A |
G |
6: 104,751,441 (GRCm39) |
I294V |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,441,511 (GRCm39) |
D431G |
probably damaging |
Het |
| Gm4884 |
T |
A |
7: 40,692,232 (GRCm39) |
M67K |
possibly damaging |
Het |
| Hmx3 |
T |
C |
7: 131,145,043 (GRCm39) |
Y118H |
probably benign |
Het |
| Hsf2bp |
C |
T |
17: 32,226,743 (GRCm39) |
R204H |
probably damaging |
Het |
| Il12b |
G |
T |
11: 44,299,315 (GRCm39) |
C128F |
probably damaging |
Het |
| Ints6 |
T |
C |
14: 62,947,015 (GRCm39) |
M317V |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,471,781 (GRCm39) |
E769G |
probably damaging |
Het |
| Kif28 |
G |
A |
1: 179,523,370 (GRCm39) |
Q987* |
probably null |
Het |
| Klhdc3 |
T |
C |
17: 46,987,444 (GRCm39) |
H330R |
possibly damaging |
Het |
| Leo1 |
G |
A |
9: 75,352,522 (GRCm39) |
E22K |
probably benign |
Het |
| Lpcat2 |
C |
T |
8: 93,596,338 (GRCm39) |
T125M |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,132,124 (GRCm39) |
Y742C |
probably benign |
Het |
| Mllt6 |
C |
T |
11: 97,555,772 (GRCm39) |
|
probably benign |
Het |
| Mpp2 |
A |
G |
11: 101,952,411 (GRCm39) |
V354A |
possibly damaging |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Myo10 |
A |
G |
15: 25,801,275 (GRCm39) |
E1488G |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,102,995 (GRCm39) |
V4461A |
probably benign |
Het |
| Nudcd1 |
G |
T |
15: 44,291,047 (GRCm39) |
|
probably benign |
Het |
| Or10ag59 |
T |
C |
2: 87,406,279 (GRCm39) |
Y284H |
probably benign |
Het |
| Or2w1b |
A |
C |
13: 21,300,435 (GRCm39) |
D191A |
possibly damaging |
Het |
| Pde1a |
G |
A |
2: 79,695,378 (GRCm39) |
|
probably benign |
Het |
| Sdha |
A |
T |
13: 74,471,303 (GRCm39) |
|
probably benign |
Het |
| Selenoo |
T |
G |
15: 88,980,957 (GRCm39) |
I432S |
probably benign |
Het |
| Sh3gl2 |
A |
T |
4: 85,295,717 (GRCm39) |
I140F |
probably damaging |
Het |
| Svopl |
G |
T |
6: 37,993,992 (GRCm39) |
Y346* |
probably null |
Het |
| Tbc1d17 |
C |
T |
7: 44,497,852 (GRCm39) |
|
probably benign |
Het |
| Tlr3 |
A |
C |
8: 45,850,452 (GRCm39) |
I815S |
probably damaging |
Het |
| Tmem25 |
T |
A |
9: 44,706,809 (GRCm39) |
|
probably null |
Het |
| Tpd52 |
A |
T |
3: 9,008,650 (GRCm39) |
|
probably null |
Het |
| Tspoap1 |
A |
T |
11: 87,661,421 (GRCm39) |
|
probably benign |
Het |
| Txndc11 |
A |
T |
16: 10,909,453 (GRCm39) |
D364E |
probably benign |
Het |
| Unc5cl |
G |
T |
17: 48,766,624 (GRCm39) |
|
probably benign |
Het |
| Vmn1r13 |
A |
G |
6: 57,186,996 (GRCm39) |
M52V |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,818,254 (GRCm39) |
Y314H |
probably damaging |
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 |
|
|
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 |
|
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'- CAAAGTCCAGGATCTCAGCAGTGTG -3'
(R):5'- CAGTGTGTGAGTGTGAGCAGAACC -3'
Sequencing Primer
(F):5'- CCCGGAGTGTGACACAGTAAC -3'
(R):5'- TGTGAGCAGAACCTTGGC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation