Incidental Mutation 'IGL01062:Mapre3'
| ID |
51012 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mapre3
|
| Ensembl Gene |
ENSMUSG00000029166 |
| Gene Name |
microtubule-associated protein, RP/EB family, member 3 |
| Synonyms |
EB3 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.820)
|
| Stock # |
IGL01062
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
30971985-31023450 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31022240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 236
(I236V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031058]
[ENSMUST00000114716]
[ENSMUST00000200692]
[ENSMUST00000201203]
[ENSMUST00000202501]
|
| AlphaFold |
Q6PER3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031058
AA Change: I236V
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000031058
Gene: ENSMUSG00000029166
AA Change: I236V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
14 |
114 |
4.1e-10 |
PFAM |
|
low complexity region
|
201 |
214 |
N/A |
INTRINSIC |
|
Pfam:EB1
|
219 |
257 |
1.4e-17 |
PFAM |
|
low complexity region
|
266 |
280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114716
|
| SMART Domains |
Protein: ENSMUSP00000110364
Gene: ENSMUSG00000038828
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
94 |
N/A |
INTRINSIC |
|
Pfam:DUF2359
|
172 |
638 |
8e-247 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200692
AA Change: I221V
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000143890
Gene: ENSMUSG00000029166
AA Change: I221V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
14 |
114 |
2.8e-12 |
PFAM |
|
low complexity region
|
186 |
199 |
N/A |
INTRINSIC |
|
Pfam:EB1
|
204 |
242 |
1.6e-21 |
PFAM |
|
low complexity region
|
251 |
265 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201203
|
| SMART Domains |
Protein: ENSMUSP00000144615
Gene: ENSMUSG00000038828
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
94 |
N/A |
INTRINSIC |
|
Pfam:DUF2359
|
217 |
683 |
6.9e-246 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202025
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202256
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202534
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202501
|
| SMART Domains |
Protein: ENSMUSP00000144591
Gene: ENSMUSG00000029166
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
14 |
114 |
6.9e-11 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in endothelial cells fail to exhibit F2r agonist-induced vascular hyper-permeability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Amer3 |
A |
G |
1: 34,625,820 (GRCm39) |
K20E |
probably damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,421,818 (GRCm39) |
L1416P |
probably damaging |
Het |
| Avpr1a |
G |
A |
10: 122,285,434 (GRCm39) |
C242Y |
probably damaging |
Het |
| Bclaf3 |
T |
C |
X: 158,336,415 (GRCm39) |
Y281H |
probably benign |
Het |
| Cdc14a |
T |
A |
3: 116,068,361 (GRCm39) |
|
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,595,239 (GRCm39) |
|
probably benign |
Het |
| Cyp3a44 |
T |
A |
5: 145,731,149 (GRCm39) |
D217V |
possibly damaging |
Het |
| Eprs1 |
A |
G |
1: 185,111,812 (GRCm39) |
E274G |
probably benign |
Het |
| Ercc6l2 |
G |
T |
13: 63,995,268 (GRCm39) |
Q354H |
probably null |
Het |
| Glb1l |
A |
T |
1: 75,177,882 (GRCm39) |
I392N |
probably damaging |
Het |
| Gm3173 |
T |
C |
14: 15,728,472 (GRCm39) |
|
probably null |
Het |
| Hadh |
C |
T |
3: 131,034,640 (GRCm39) |
V219M |
probably damaging |
Het |
| Hspb9 |
A |
G |
11: 100,604,761 (GRCm39) |
H29R |
possibly damaging |
Het |
| Iqgap3 |
G |
T |
3: 88,017,429 (GRCm39) |
V240L |
probably benign |
Het |
| Jmjd1c |
T |
C |
10: 67,062,494 (GRCm39) |
S1616P |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,907,461 (GRCm39) |
I1662V |
probably benign |
Het |
| Maco1 |
A |
T |
4: 134,560,608 (GRCm39) |
V125E |
probably damaging |
Het |
| Med17 |
T |
C |
9: 15,190,917 (GRCm39) |
E58G |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,189,749 (GRCm39) |
E1099G |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,439,522 (GRCm39) |
V348D |
probably damaging |
Het |
| Nat10 |
A |
T |
2: 103,573,393 (GRCm39) |
I368N |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,118,205 (GRCm39) |
I811V |
probably benign |
Het |
| Oas1d |
C |
A |
5: 121,057,127 (GRCm39) |
Y244* |
probably null |
Het |
| Or6e1 |
A |
T |
14: 54,520,181 (GRCm39) |
M57K |
probably damaging |
Het |
| Osbpl1a |
A |
G |
18: 13,038,132 (GRCm39) |
V273A |
probably benign |
Het |
| Pigw |
T |
C |
11: 84,768,769 (GRCm39) |
R187G |
probably benign |
Het |
| Plekhg5 |
G |
A |
4: 152,192,953 (GRCm39) |
D603N |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,456,414 (GRCm39) |
V1058A |
probably damaging |
Het |
| Robo4 |
G |
A |
9: 37,317,296 (GRCm39) |
S537N |
probably benign |
Het |
| Rptn |
T |
A |
3: 93,304,489 (GRCm39) |
F607L |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,759,972 (GRCm39) |
V44A |
probably damaging |
Het |
| Sh3bp4 |
C |
A |
1: 89,071,682 (GRCm39) |
Q177K |
probably benign |
Het |
| Skic3 |
T |
A |
13: 76,303,581 (GRCm39) |
L1225* |
probably null |
Het |
| Spmip6 |
T |
A |
4: 41,511,433 (GRCm39) |
E93D |
probably damaging |
Het |
| Srrt |
C |
A |
5: 137,294,569 (GRCm39) |
G779V |
probably damaging |
Het |
| Tamalin |
A |
G |
15: 101,126,777 (GRCm39) |
|
probably benign |
Het |
| Tex21 |
T |
C |
12: 76,245,718 (GRCm39) |
D526G |
probably benign |
Het |
| Vmn1r10 |
A |
G |
6: 57,090,821 (GRCm39) |
S138G |
possibly damaging |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
| Zfp454 |
T |
C |
11: 50,765,033 (GRCm39) |
E22G |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,765,795 (GRCm39) |
C1441S |
probably benign |
Het |
|
| Other mutations in Mapre3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01391:Mapre3
|
APN |
5 |
31,022,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02650:Mapre3
|
APN |
5 |
31,022,053 (GRCm39) |
missense |
probably damaging |
0.97 |
|
capen
|
UTSW |
5 |
31,022,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1272:Mapre3
|
UTSW |
5 |
31,019,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1298:Mapre3
|
UTSW |
5 |
31,022,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1447:Mapre3
|
UTSW |
5 |
31,019,151 (GRCm39) |
splice site |
probably benign |
|
|
R1524:Mapre3
|
UTSW |
5 |
31,019,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2006:Mapre3
|
UTSW |
5 |
31,019,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2086:Mapre3
|
UTSW |
5 |
31,020,546 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5864:Mapre3
|
UTSW |
5 |
31,020,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6630:Mapre3
|
UTSW |
5 |
31,019,886 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7348:Mapre3
|
UTSW |
5 |
31,019,173 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8143:Mapre3
|
UTSW |
5 |
31,020,719 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9182:Mapre3
|
UTSW |
5 |
31,022,016 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Posted On |
2013-06-21 |
Incidental Mutation