Incidental Mutation 'R5188:Amigo3'
| ID |
398016 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5188 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107930358-107932900 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 107931882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 435
(A435E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047746]
[ENSMUST00000047947]
[ENSMUST00000085060]
[ENSMUST00000112295]
[ENSMUST00000178267]
[ENSMUST00000162753]
[ENSMUST00000160249]
[ENSMUST00000160649]
[ENSMUST00000162355]
|
| AlphaFold |
Q8C2S7 |
| 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 |
probably damaging
Transcript: ENSMUST00000085060
AA Change: A435E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000082137
Gene: ENSMUSG00000032593
AA Change: A435E
| 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: ENSMUST00000159136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162123
|
| 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: ENSMUST00000162753
|
| 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abca12 |
T |
A |
1: 71,330,651 (GRCm39) |
I1335F |
probably benign |
Het |
| Atr |
T |
A |
9: 95,803,778 (GRCm39) |
N1871K |
probably benign |
Het |
| Ctsw |
C |
T |
19: 5,517,120 (GRCm39) |
A71T |
probably damaging |
Het |
| Decr1 |
C |
T |
4: 15,924,270 (GRCm39) |
V217M |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,738,827 (GRCm39) |
T2389A |
probably benign |
Het |
| Gpr151 |
A |
G |
18: 42,711,820 (GRCm39) |
M286T |
probably benign |
Het |
| Katnbl1 |
T |
A |
2: 112,240,499 (GRCm39) |
I262N |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,443,821 (GRCm39) |
C149R |
probably damaging |
Het |
| Mpc1 |
A |
T |
17: 8,515,215 (GRCm39) |
|
probably benign |
Het |
| Ndufv1 |
A |
T |
19: 4,059,988 (GRCm39) |
N37K |
probably damaging |
Het |
| Or1n1b |
T |
A |
2: 36,780,405 (GRCm39) |
I152L |
probably benign |
Het |
| Or5af2 |
C |
A |
11: 58,708,146 (GRCm39) |
T104K |
probably damaging |
Het |
| Or8g50 |
T |
C |
9: 39,648,531 (GRCm39) |
V140A |
probably benign |
Het |
| Or8k1 |
T |
G |
2: 86,047,521 (GRCm39) |
S178R |
probably benign |
Het |
| Pnpla7 |
C |
A |
2: 24,887,312 (GRCm39) |
P52Q |
probably benign |
Het |
| Prh1 |
A |
G |
6: 132,548,670 (GRCm39) |
Q59R |
unknown |
Het |
| Ren1 |
A |
G |
1: 133,278,351 (GRCm39) |
|
probably benign |
Het |
| Rnf148 |
T |
C |
6: 23,654,139 (GRCm39) |
T286A |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,942,015 (GRCm39) |
|
probably null |
Het |
| Srp72 |
T |
A |
5: 77,122,598 (GRCm39) |
S10T |
possibly damaging |
Het |
| Stk11 |
G |
T |
10: 79,962,113 (GRCm39) |
G215V |
probably damaging |
Het |
| Stk4 |
T |
C |
2: 163,930,828 (GRCm39) |
M143T |
possibly damaging |
Het |
| Supt20 |
T |
A |
3: 54,617,849 (GRCm39) |
S318T |
possibly damaging |
Het |
| Tchh |
G |
C |
3: 93,353,986 (GRCm39) |
R1142P |
unknown |
Het |
| Vipas39 |
G |
T |
12: 87,301,021 (GRCm39) |
R161S |
probably benign |
Het |
|
| Other mutations in Amigo3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01761:Amigo3
|
APN |
9 |
107,930,601 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCCAGAGACTTTCAACACAG -3'
(R):5'- TCTAGCTCATCACGAGACCCTC -3'
Sequencing Primer
(F):5'- GAGACTTTCAACACAGGCTTTAC -3'
(R):5'- TGATTCAGAGCCAGCCTTGAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation