Incidental Mutation 'IGL01761:Amigo3'
| ID |
153571 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Amigo3
|
| Ensembl Gene |
ENSMUSG00000032593 |
| Gene Name |
adhesion molecule with Ig like domain 3 |
| Synonyms |
E430002N15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01761
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
107930358-107932900 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107930601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 8
(G8D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035214]
[ENSMUST00000047746]
[ENSMUST00000047947]
[ENSMUST00000085060]
[ENSMUST00000112295]
[ENSMUST00000160649]
[ENSMUST00000162355]
[ENSMUST00000178267]
[ENSMUST00000160249]
[ENSMUST00000162753]
|
| AlphaFold |
Q8C2S7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035214
|
| SMART Domains |
Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
|
Pfam:IPK
|
207 |
426 |
2.2e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047746
|
| SMART Domains |
Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
SPRY
|
132 |
253 |
1.52e-28 |
SMART |
|
low complexity region
|
471 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
1047 |
1067 |
N/A |
INTRINSIC |
|
low complexity region
|
1242 |
1251 |
N/A |
INTRINSIC |
|
RING
|
1260 |
1297 |
5.27e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047947
|
| SMART Domains |
Protein: ENSMUSP00000036898
Gene: ENSMUSG00000070284
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
2 |
234 |
8e-48 |
PFAM |
|
Pfam:NTP_transf_3
|
3 |
202 |
6.6e-12 |
PFAM |
|
Pfam:Hexapep
|
259 |
294 |
1.8e-9 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085060
AA Change: G8D
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082137
Gene: ENSMUSG00000032593
AA Change: G8D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
LRRNT
|
33 |
65 |
2.55e-2 |
SMART |
|
LRR
|
65 |
83 |
6.97e1 |
SMART |
|
LRR_TYP
|
84 |
107 |
1.56e-2 |
SMART |
|
LRR
|
109 |
131 |
2.84e1 |
SMART |
|
LRR
|
132 |
155 |
7.05e-1 |
SMART |
|
LRR
|
156 |
176 |
3.98e1 |
SMART |
|
LRR
|
182 |
206 |
5.56e0 |
SMART |
|
Blast:LRRCT
|
219 |
274 |
8e-23 |
BLAST |
|
IG
|
285 |
372 |
1.59e-6 |
SMART |
|
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
504 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112295
|
| SMART Domains |
Protein: ENSMUSP00000107914
Gene: ENSMUSG00000070284
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
2 |
235 |
2.1e-51 |
PFAM |
|
Pfam:NTP_transf_3
|
3 |
199 |
1.1e-11 |
PFAM |
|
Pfam:Hexapep
|
259 |
294 |
9.4e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159526
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160649
|
| SMART Domains |
Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
SPRY
|
132 |
253 |
1.52e-28 |
SMART |
|
low complexity region
|
471 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
1041 |
1061 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162355
|
| SMART Domains |
Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
SPRY
|
132 |
253 |
1.52e-28 |
SMART |
|
low complexity region
|
471 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
1047 |
1067 |
N/A |
INTRINSIC |
|
low complexity region
|
1242 |
1251 |
N/A |
INTRINSIC |
|
RING
|
1260 |
1297 |
5.27e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178267
|
| SMART Domains |
Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
SPRY
|
132 |
253 |
1.52e-28 |
SMART |
|
low complexity region
|
471 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
1041 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1236 |
1245 |
N/A |
INTRINSIC |
|
RING
|
1254 |
1291 |
5.27e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159306
|
| SMART Domains |
Protein: ENSMUSP00000125695
Gene: ENSMUSG00000041528
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
172 |
192 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160249
|
| SMART Domains |
Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
SPRY
|
132 |
253 |
1.52e-28 |
SMART |
|
low complexity region
|
471 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
1041 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1236 |
1245 |
N/A |
INTRINSIC |
|
RING
|
1254 |
1291 |
5.27e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162753
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
T |
C |
17: 37,289,699 (GRCm39) |
T44A |
probably damaging |
Het |
| A2ml1 |
T |
A |
6: 128,523,300 (GRCm39) |
Q1212L |
possibly damaging |
Het |
| A530064D06Rik |
T |
C |
17: 48,460,127 (GRCm39) |
S190G |
possibly damaging |
Het |
| AA986860 |
A |
G |
1: 130,670,459 (GRCm39) |
H227R |
possibly damaging |
Het |
| Ace |
C |
A |
11: 105,870,319 (GRCm39) |
A826E |
possibly damaging |
Het |
| Angpt1 |
A |
T |
15: 42,339,863 (GRCm39) |
F283I |
possibly damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,251,538 (GRCm39) |
L763P |
probably benign |
Het |
| Atr |
T |
C |
9: 95,833,501 (GRCm39) |
|
probably benign |
Het |
| C4b |
T |
A |
17: 34,958,912 (GRCm39) |
M506L |
possibly damaging |
Het |
| Cdc25a |
T |
C |
9: 109,720,933 (GRCm39) |
|
probably benign |
Het |
| Dcaf17 |
T |
C |
2: 70,886,881 (GRCm39) |
S57P |
probably damaging |
Het |
| Dph5 |
T |
A |
3: 115,693,362 (GRCm39) |
D93E |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,228,426 (GRCm39) |
E33G |
possibly damaging |
Het |
| Fam193b |
G |
A |
13: 55,697,070 (GRCm39) |
T340I |
probably benign |
Het |
| Glod4 |
T |
C |
11: 76,134,428 (GRCm39) |
N15D |
probably benign |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Inpp5k |
A |
G |
11: 75,538,503 (GRCm39) |
E102G |
possibly damaging |
Het |
| Kif27 |
A |
T |
13: 58,485,459 (GRCm39) |
D500E |
probably benign |
Het |
| Lmntd1 |
A |
G |
6: 145,379,448 (GRCm39) |
I15T |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,311,579 (GRCm39) |
R2633H |
possibly damaging |
Het |
| Lrp4 |
G |
A |
2: 91,312,326 (GRCm39) |
|
probably null |
Het |
| Lrrc3b |
A |
C |
14: 15,358,098 (GRCm38) |
N169K |
probably benign |
Het |
| Marchf7 |
T |
C |
2: 60,064,539 (GRCm39) |
S272P |
probably benign |
Het |
| Mier2 |
A |
G |
10: 79,384,186 (GRCm39) |
|
probably null |
Het |
| Myo9b |
G |
A |
8: 71,801,796 (GRCm39) |
S1307N |
probably damaging |
Het |
| Or4c115 |
G |
T |
2: 88,927,888 (GRCm39) |
P128T |
probably damaging |
Het |
| Or5p69 |
T |
G |
7: 107,967,525 (GRCm39) |
V276G |
probably damaging |
Het |
| Phkb |
A |
T |
8: 86,745,693 (GRCm39) |
M629L |
probably benign |
Het |
| Rergl |
C |
A |
6: 139,478,863 (GRCm39) |
V4F |
probably damaging |
Het |
| Rgs22 |
A |
T |
15: 36,103,897 (GRCm39) |
I188N |
probably damaging |
Het |
| Rgs3 |
G |
T |
4: 62,570,946 (GRCm39) |
|
probably benign |
Het |
| Rpl4 |
T |
A |
9: 64,082,221 (GRCm39) |
V40D |
probably damaging |
Het |
| Sox4 |
A |
T |
13: 29,136,790 (GRCm39) |
I72N |
possibly damaging |
Het |
| Syne1 |
A |
C |
10: 5,355,456 (GRCm39) |
V375G |
probably damaging |
Het |
| Tfrc |
G |
T |
16: 32,447,369 (GRCm39) |
D662Y |
probably damaging |
Het |
| Ubqln5 |
T |
C |
7: 103,777,634 (GRCm39) |
R397G |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,964,695 (GRCm39) |
D257G |
probably damaging |
Het |
| Vmn1r160 |
A |
T |
7: 22,570,868 (GRCm39) |
N74Y |
probably damaging |
Het |
| Vmn1r168 |
T |
A |
7: 23,241,070 (GRCm39) |
I309N |
possibly damaging |
Het |
| Vmn1r20 |
T |
C |
6: 57,408,725 (GRCm39) |
L17P |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,373,163 (GRCm39) |
I142V |
possibly damaging |
Het |
| Zan |
A |
T |
5: 137,423,859 (GRCm39) |
I2680N |
unknown |
Het |
| Zbtb20 |
T |
C |
16: 43,431,024 (GRCm39) |
F512L |
possibly damaging |
Het |
|
| Other mutations in Amigo3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0047:Amigo3
|
UTSW |
9 |
107,931,857 (GRCm39) |
missense |
probably benign |
|
|
R0047:Amigo3
|
UTSW |
9 |
107,931,857 (GRCm39) |
missense |
probably benign |
|
|
R1079:Amigo3
|
UTSW |
9 |
107,931,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1585:Amigo3
|
UTSW |
9 |
107,931,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Amigo3
|
UTSW |
9 |
107,930,835 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2899:Amigo3
|
UTSW |
9 |
107,931,353 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4770:Amigo3
|
UTSW |
9 |
107,930,734 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5188:Amigo3
|
UTSW |
9 |
107,931,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6137:Amigo3
|
UTSW |
9 |
107,930,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6781:Amigo3
|
UTSW |
9 |
107,931,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7326:Amigo3
|
UTSW |
9 |
107,931,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7773:Amigo3
|
UTSW |
9 |
107,931,867 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8672:Amigo3
|
UTSW |
9 |
107,931,375 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9215:Amigo3
|
UTSW |
9 |
107,931,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9273:Amigo3
|
UTSW |
9 |
107,932,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation