Incidental Mutation 'R6378:Map2'
| ID |
515089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map2
|
| Ensembl Gene |
ENSMUSG00000015222 |
| Gene Name |
microtubule-associated protein 2 |
| Synonyms |
G1-397-34, MAP-2, Mtap2, repro4 |
| MMRRC Submission |
044528-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.751)
|
| Stock # |
R6378 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
66214432-66481742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66454488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1126
(V1126A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024639]
[ENSMUST00000077355]
[ENSMUST00000114012]
[ENSMUST00000114013]
[ENSMUST00000114015]
[ENSMUST00000114017]
[ENSMUST00000114018]
[ENSMUST00000172886]
[ENSMUST00000173800]
[ENSMUST00000173855]
[ENSMUST00000173778]
[ENSMUST00000145419]
|
| AlphaFold |
P20357 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024639
|
| SMART Domains |
Protein: ENSMUSP00000024639
Gene: ENSMUSG00000015222
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
251 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
300 |
331 |
2.1e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
332 |
362 |
9.1e-20 |
PFAM |
|
Pfam:Tubulin-binding
|
363 |
394 |
1.7e-17 |
PFAM |
|
low complexity region
|
422 |
435 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077355
|
| SMART Domains |
Protein: ENSMUSP00000076577
Gene: ENSMUSG00000015222
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
251 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
300 |
331 |
2.1e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
332 |
362 |
9.1e-20 |
PFAM |
|
Pfam:Tubulin-binding
|
363 |
394 |
1.7e-17 |
PFAM |
|
low complexity region
|
422 |
435 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114012
|
| SMART Domains |
Protein: ENSMUSP00000109645
Gene: ENSMUSG00000015222
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
133 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
250 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
299 |
330 |
2.1e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
331 |
361 |
9.1e-20 |
PFAM |
|
Pfam:Tubulin-binding
|
362 |
393 |
1.7e-17 |
PFAM |
|
low complexity region
|
421 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114013
AA Change: V1126A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109646
Gene: ENSMUSG00000015222
AA Change: V1126A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RII_binding_1
|
86 |
103 |
1.2e-5 |
PFAM |
|
low complexity region
|
120 |
141 |
N/A |
INTRINSIC |
|
Pfam:MAP2_projctn
|
376 |
1510 |
N/A |
PFAM |
|
low complexity region
|
1543 |
1557 |
N/A |
INTRINSIC |
|
low complexity region
|
1567 |
1583 |
N/A |
INTRINSIC |
|
low complexity region
|
1590 |
1612 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
1662 |
1692 |
1.7e-13 |
PFAM |
|
Pfam:Tubulin-binding
|
1693 |
1723 |
5.8e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
1724 |
1755 |
5.9e-18 |
PFAM |
|
low complexity region
|
1783 |
1796 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114015
|
| SMART Domains |
Protein: ENSMUSP00000109648
Gene: ENSMUSG00000015222
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
251 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
300 |
331 |
2.1e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
332 |
362 |
9.1e-20 |
PFAM |
|
Pfam:Tubulin-binding
|
363 |
394 |
1.7e-17 |
PFAM |
|
low complexity region
|
422 |
435 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114017
|
| SMART Domains |
Protein: ENSMUSP00000109650
Gene: ENSMUSG00000015222
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
251 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
300 |
331 |
2.3e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
332 |
362 |
2.3e-19 |
PFAM |
|
Pfam:Tubulin-binding
|
363 |
393 |
9.9e-20 |
PFAM |
|
Pfam:Tubulin-binding
|
394 |
425 |
1.9e-17 |
PFAM |
|
low complexity region
|
453 |
466 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114018
|
| SMART Domains |
Protein: ENSMUSP00000109651
Gene: ENSMUSG00000015222
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
251 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
300 |
331 |
2.3e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
332 |
362 |
2.3e-19 |
PFAM |
|
Pfam:Tubulin-binding
|
363 |
393 |
9.9e-20 |
PFAM |
|
Pfam:Tubulin-binding
|
394 |
425 |
1.9e-17 |
PFAM |
|
low complexity region
|
453 |
466 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172886
|
| SMART Domains |
Protein: ENSMUSP00000133446
Gene: ENSMUSG00000015222
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAP2_projctn
|
1 |
107 |
3.9e-54 |
PFAM |
|
low complexity region
|
112 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
181 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
230 |
261 |
1.4e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
262 |
292 |
1.4e-19 |
PFAM |
|
Pfam:Tubulin-binding
|
293 |
323 |
6e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133522
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173800
|
| SMART Domains |
Protein: ENSMUSP00000134518
Gene: ENSMUSG00000015222
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAP2_projctn
|
1 |
23 |
2.2e-11 |
PFAM |
|
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
124 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
173 |
204 |
8.7e-19 |
PFAM |
|
Pfam:Tubulin-binding
|
205 |
235 |
3.8e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173855
|
| SMART Domains |
Protein: ENSMUSP00000134471
Gene: ENSMUSG00000015222
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
163 |
N/A |
INTRINSIC |
|
Pfam:MAP2_projctn
|
458 |
565 |
1.1e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173778
|
| SMART Domains |
Protein: ENSMUSP00000134651
Gene: ENSMUSG00000015222
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAP2_projctn
|
1 |
124 |
4.8e-84 |
PFAM |
|
low complexity region
|
157 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
226 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
275 |
306 |
1.6e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
307 |
337 |
1.6e-19 |
PFAM |
|
Pfam:Tubulin-binding
|
338 |
368 |
7e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141148
|
| SMART Domains |
Protein: ENSMUSP00000117996
Gene: ENSMUSG00000015222
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RII_binding_1
|
23 |
40 |
3.2e-6 |
PFAM |
|
low complexity region
|
70 |
77 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145419
|
| SMART Domains |
Protein: ENSMUSP00000134538
Gene: ENSMUSG00000015222
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAP2_projctn
|
218 |
608 |
1.7e-250 |
PFAM |
|
| Meta Mutation Damage Score |
0.1361 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
99% (80/81) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered contextual memory. Mice homozygous for another knock-out allele display decreased body weight, altered microtubule density and organization in Purkinje cell dendrites, and reduced dendritic length inhippocampal neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
A |
T |
15: 72,995,774 (GRCm39) |
D408E |
probably benign |
Het |
| Agpat2 |
T |
C |
2: 26,486,147 (GRCm39) |
N178S |
probably benign |
Het |
| Arsi |
T |
C |
18: 61,049,573 (GRCm39) |
F152S |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,734,367 (GRCm39) |
L1163Q |
probably benign |
Het |
| Bpifb2 |
T |
A |
2: 153,733,072 (GRCm39) |
L385Q |
possibly damaging |
Het |
| C330018D20Rik |
A |
G |
18: 57,095,579 (GRCm39) |
L2P |
probably damaging |
Het |
| Cby3 |
A |
G |
11: 50,250,360 (GRCm39) |
T189A |
probably damaging |
Het |
| Cdc42bpa |
A |
T |
1: 179,921,561 (GRCm39) |
D567V |
possibly damaging |
Het |
| Cdh5 |
T |
A |
8: 104,853,168 (GRCm39) |
|
probably null |
Het |
| Cela1 |
C |
T |
15: 100,585,071 (GRCm39) |
V20I |
probably benign |
Het |
| Cmpk2 |
G |
A |
12: 26,519,415 (GRCm39) |
G22E |
possibly damaging |
Het |
| Ctcf |
T |
A |
8: 106,390,423 (GRCm39) |
V10E |
possibly damaging |
Het |
| Dpp10 |
C |
A |
1: 123,339,468 (GRCm39) |
C353F |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,999,620 (GRCm39) |
S5546G |
possibly damaging |
Het |
| Elp3 |
G |
T |
14: 65,830,420 (GRCm39) |
Y10* |
probably null |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,755,646 (GRCm39) |
W336R |
probably damaging |
Het |
| Erich6 |
T |
C |
3: 58,529,780 (GRCm39) |
|
probably null |
Het |
| Eya1 |
T |
C |
1: 14,373,027 (GRCm39) |
N31D |
possibly damaging |
Het |
| Fam81a |
T |
A |
9: 70,017,628 (GRCm39) |
N106Y |
probably damaging |
Het |
| Frrs1 |
A |
G |
3: 116,694,639 (GRCm39) |
T487A |
possibly damaging |
Het |
| Ganc |
T |
C |
2: 120,264,307 (GRCm39) |
M420T |
probably damaging |
Het |
| Gimap7 |
A |
T |
6: 48,701,116 (GRCm39) |
E234V |
probably damaging |
Het |
| Gpbp1 |
T |
C |
13: 111,570,146 (GRCm39) |
N400S |
probably damaging |
Het |
| Gucy2g |
T |
C |
19: 55,229,377 (GRCm39) |
S98G |
probably benign |
Het |
| Hoxd10 |
T |
C |
2: 74,524,678 (GRCm39) |
I330T |
possibly damaging |
Het |
| Ik |
T |
A |
18: 36,890,341 (GRCm39) |
I539N |
probably damaging |
Het |
| Il17rb |
G |
A |
14: 29,722,320 (GRCm39) |
T237I |
probably damaging |
Het |
| Ing2 |
T |
A |
8: 48,122,293 (GRCm39) |
Q85L |
probably benign |
Het |
| Lrp4 |
C |
A |
2: 91,324,174 (GRCm39) |
N1208K |
probably benign |
Het |
| Lvrn |
T |
A |
18: 47,028,024 (GRCm39) |
S888R |
probably benign |
Het |
| Mapkapk5 |
A |
G |
5: 121,677,233 (GRCm39) |
|
probably null |
Het |
| Mis18bp1 |
T |
C |
12: 65,196,021 (GRCm39) |
D581G |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,599,320 (GRCm39) |
V3289A |
probably benign |
Het |
| Myom2 |
T |
A |
8: 15,149,356 (GRCm39) |
I609N |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,382,433 (GRCm39) |
M1343K |
probably damaging |
Het |
| Ndufaf1 |
T |
C |
2: 119,486,207 (GRCm39) |
I302V |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,183,733 (GRCm39) |
K978N |
probably damaging |
Het |
| Nol8 |
A |
G |
13: 49,820,831 (GRCm39) |
E878G |
probably damaging |
Het |
| Nrde2 |
A |
T |
12: 100,097,016 (GRCm39) |
I928N |
probably damaging |
Het |
| Nxf1 |
T |
A |
19: 8,741,910 (GRCm39) |
D145E |
probably benign |
Het |
| Obox3 |
T |
A |
7: 15,360,027 (GRCm39) |
H214L |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,964,572 (GRCm39) |
E3199G |
probably damaging |
Het |
| Ogfod3 |
T |
C |
11: 121,093,761 (GRCm39) |
E83G |
probably benign |
Het |
| Or11a4 |
T |
A |
17: 37,536,688 (GRCm39) |
V224E |
probably benign |
Het |
| Or2r3 |
T |
G |
6: 42,448,687 (GRCm39) |
M142L |
probably benign |
Het |
| Or6b2 |
A |
G |
1: 92,408,178 (GRCm39) |
L55P |
probably damaging |
Het |
| Or8s8 |
T |
C |
15: 98,354,425 (GRCm39) |
V78A |
probably benign |
Het |
| Pcsk4 |
G |
T |
10: 80,164,809 (GRCm39) |
H69N |
probably benign |
Het |
| Plcl2 |
C |
T |
17: 50,975,188 (GRCm39) |
|
probably null |
Het |
| Pmfbp1 |
T |
C |
8: 110,256,898 (GRCm39) |
I534T |
probably damaging |
Het |
| Prss23 |
A |
T |
7: 89,159,241 (GRCm39) |
I276N |
probably damaging |
Het |
| Ramac |
A |
G |
7: 81,417,387 (GRCm39) |
Y29C |
probably damaging |
Het |
| Rhd |
T |
A |
4: 134,621,696 (GRCm39) |
F403Y |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Scg5 |
A |
G |
2: 113,657,737 (GRCm39) |
V58A |
possibly damaging |
Het |
| Scn5a |
C |
T |
9: 119,315,102 (GRCm39) |
G1868R |
probably damaging |
Het |
| Secisbp2l |
A |
G |
2: 125,610,245 (GRCm39) |
S225P |
possibly damaging |
Het |
| Sema4f |
A |
T |
6: 82,894,613 (GRCm39) |
L486* |
probably null |
Het |
| Slc25a47 |
G |
A |
12: 108,822,069 (GRCm39) |
R286H |
probably damaging |
Het |
| Slc5a8 |
A |
C |
10: 88,740,916 (GRCm39) |
K277T |
probably damaging |
Het |
| Slc66a3 |
T |
C |
12: 17,047,644 (GRCm39) |
Y96C |
probably damaging |
Het |
| Sorcs1 |
T |
A |
19: 50,213,615 (GRCm39) |
E704V |
possibly damaging |
Het |
| Sptan1 |
T |
C |
2: 29,908,527 (GRCm39) |
S1768P |
probably damaging |
Het |
| Srd5a2 |
C |
T |
17: 74,328,378 (GRCm39) |
|
probably null |
Het |
| Sytl2 |
A |
T |
7: 90,007,432 (GRCm39) |
K65* |
probably null |
Het |
| Tas2r109 |
T |
G |
6: 132,957,844 (GRCm39) |
I29L |
probably benign |
Het |
| Tfap2a |
A |
T |
13: 40,876,717 (GRCm39) |
V234E |
possibly damaging |
Het |
| Tgfbr3 |
G |
A |
5: 107,325,679 (GRCm39) |
L128F |
probably benign |
Het |
| Trappc12 |
A |
T |
12: 28,797,082 (GRCm39) |
L150Q |
probably damaging |
Het |
| Trim43b |
T |
A |
9: 88,967,452 (GRCm39) |
I395L |
probably benign |
Het |
| U2surp |
C |
T |
9: 95,373,474 (GRCm39) |
E232K |
probably benign |
Het |
| Vax1 |
T |
C |
19: 59,154,656 (GRCm39) |
N327S |
probably benign |
Het |
| Vmn1r14 |
T |
C |
6: 57,210,587 (GRCm39) |
V11A |
probably benign |
Het |
| Vmn1r60 |
A |
G |
7: 5,547,782 (GRCm39) |
V106A |
probably damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,498,667 (GRCm39) |
S415G |
probably benign |
Het |
| Vmn2r3 |
C |
T |
3: 64,182,517 (GRCm39) |
G394D |
probably damaging |
Het |
| Ybx2 |
A |
G |
11: 69,831,179 (GRCm39) |
E63G |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,308,410 (GRCm39) |
N545K |
probably benign |
Het |
| Zp1 |
T |
C |
19: 10,892,217 (GRCm39) |
T56A |
probably benign |
Het |
|
| Other mutations in Map2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01518:Map2
|
APN |
1 |
66,464,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02135:Map2
|
APN |
1 |
66,419,920 (GRCm39) |
nonsense |
probably null |
|
|
IGL02526:Map2
|
APN |
1 |
66,419,876 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Annas
|
UTSW |
1 |
66,472,756 (GRCm39) |
critical splice donor site |
probably null |
|
|
calliope
|
UTSW |
1 |
66,464,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
carthage
|
UTSW |
1 |
66,453,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
costas
|
UTSW |
1 |
66,451,812 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Jacobin
|
UTSW |
1 |
66,438,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Nectar
|
UTSW |
1 |
66,454,522 (GRCm39) |
nonsense |
probably null |
|
|
ruby_throat
|
UTSW |
1 |
66,454,043 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Rufous
|
UTSW |
1 |
66,419,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Speckled
|
UTSW |
1 |
66,451,886 (GRCm39) |
nonsense |
probably null |
|
|
Sunbird
|
UTSW |
1 |
66,454,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
swift
|
UTSW |
1 |
66,455,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
E0370:Map2
|
UTSW |
1 |
66,455,883 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4362001:Map2
|
UTSW |
1 |
66,451,677 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0067:Map2
|
UTSW |
1 |
66,452,322 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0238:Map2
|
UTSW |
1 |
66,455,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Map2
|
UTSW |
1 |
66,455,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Map2
|
UTSW |
1 |
66,455,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Map2
|
UTSW |
1 |
66,455,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0268:Map2
|
UTSW |
1 |
66,419,881 (GRCm39) |
nonsense |
probably null |
|
|
R0302:Map2
|
UTSW |
1 |
66,453,987 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0305:Map2
|
UTSW |
1 |
66,452,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0409:Map2
|
UTSW |
1 |
66,472,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0561:Map2
|
UTSW |
1 |
66,464,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0674:Map2
|
UTSW |
1 |
66,452,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0738:Map2
|
UTSW |
1 |
66,464,348 (GRCm39) |
splice site |
probably benign |
|
|
R0893:Map2
|
UTSW |
1 |
66,419,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1305:Map2
|
UTSW |
1 |
66,464,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1534:Map2
|
UTSW |
1 |
66,452,339 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1632:Map2
|
UTSW |
1 |
66,454,245 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1682:Map2
|
UTSW |
1 |
66,454,781 (GRCm39) |
splice site |
probably null |
|
|
R1774:Map2
|
UTSW |
1 |
66,453,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Map2
|
UTSW |
1 |
66,455,295 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2017:Map2
|
UTSW |
1 |
66,451,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2050:Map2
|
UTSW |
1 |
66,453,473 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2093:Map2
|
UTSW |
1 |
66,438,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2214:Map2
|
UTSW |
1 |
66,459,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2284:Map2
|
UTSW |
1 |
66,453,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3011:Map2
|
UTSW |
1 |
66,453,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3105:Map2
|
UTSW |
1 |
66,472,756 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3708:Map2
|
UTSW |
1 |
66,455,714 (GRCm39) |
unclassified |
probably benign |
|
|
R3709:Map2
|
UTSW |
1 |
66,455,015 (GRCm39) |
nonsense |
probably null |
|
|
R3729:Map2
|
UTSW |
1 |
66,451,605 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3760:Map2
|
UTSW |
1 |
66,478,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3788:Map2
|
UTSW |
1 |
66,456,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3789:Map2
|
UTSW |
1 |
66,456,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4003:Map2
|
UTSW |
1 |
66,454,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4120:Map2
|
UTSW |
1 |
66,455,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4172:Map2
|
UTSW |
1 |
66,452,759 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4198:Map2
|
UTSW |
1 |
66,464,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4200:Map2
|
UTSW |
1 |
66,464,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4205:Map2
|
UTSW |
1 |
66,464,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4613:Map2
|
UTSW |
1 |
66,464,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:Map2
|
UTSW |
1 |
66,449,796 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4974:Map2
|
UTSW |
1 |
66,452,664 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5007:Map2
|
UTSW |
1 |
66,452,448 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5039:Map2
|
UTSW |
1 |
66,477,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5237:Map2
|
UTSW |
1 |
66,478,169 (GRCm39) |
unclassified |
probably benign |
|
|
R5313:Map2
|
UTSW |
1 |
66,464,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5455:Map2
|
UTSW |
1 |
66,438,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5490:Map2
|
UTSW |
1 |
66,452,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5517:Map2
|
UTSW |
1 |
66,454,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5532:Map2
|
UTSW |
1 |
66,453,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5583:Map2
|
UTSW |
1 |
66,455,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5764:Map2
|
UTSW |
1 |
66,454,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5996:Map2
|
UTSW |
1 |
66,454,043 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6058:Map2
|
UTSW |
1 |
66,454,573 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6199:Map2
|
UTSW |
1 |
66,464,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6208:Map2
|
UTSW |
1 |
66,470,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6276:Map2
|
UTSW |
1 |
66,438,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6424:Map2
|
UTSW |
1 |
66,453,946 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6743:Map2
|
UTSW |
1 |
66,454,766 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6837:Map2
|
UTSW |
1 |
66,453,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6901:Map2
|
UTSW |
1 |
66,460,932 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6984:Map2
|
UTSW |
1 |
66,454,395 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6989:Map2
|
UTSW |
1 |
66,454,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7001:Map2
|
UTSW |
1 |
66,454,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7055:Map2
|
UTSW |
1 |
66,455,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7094:Map2
|
UTSW |
1 |
66,451,886 (GRCm39) |
nonsense |
probably null |
|
|
R7106:Map2
|
UTSW |
1 |
66,449,903 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7182:Map2
|
UTSW |
1 |
66,451,812 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7235:Map2
|
UTSW |
1 |
66,453,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7424:Map2
|
UTSW |
1 |
66,453,983 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7473:Map2
|
UTSW |
1 |
66,454,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7642:Map2
|
UTSW |
1 |
66,452,466 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7660:Map2
|
UTSW |
1 |
66,453,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7673:Map2
|
UTSW |
1 |
66,452,933 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7768:Map2
|
UTSW |
1 |
66,453,642 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7796:Map2
|
UTSW |
1 |
66,455,654 (GRCm39) |
splice site |
probably null |
|
|
R7834:Map2
|
UTSW |
1 |
66,455,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7842:Map2
|
UTSW |
1 |
66,455,570 (GRCm39) |
missense |
probably benign |
|
|
R7955:Map2
|
UTSW |
1 |
66,452,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8056:Map2
|
UTSW |
1 |
66,454,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8118:Map2
|
UTSW |
1 |
66,464,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8135:Map2
|
UTSW |
1 |
66,452,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8152:Map2
|
UTSW |
1 |
66,453,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8223:Map2
|
UTSW |
1 |
66,464,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8329:Map2
|
UTSW |
1 |
66,454,272 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8344:Map2
|
UTSW |
1 |
66,460,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8475:Map2
|
UTSW |
1 |
66,453,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8548:Map2
|
UTSW |
1 |
66,452,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8680:Map2
|
UTSW |
1 |
66,460,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8713:Map2
|
UTSW |
1 |
66,453,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8745:Map2
|
UTSW |
1 |
66,452,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8786:Map2
|
UTSW |
1 |
66,472,755 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8790:Map2
|
UTSW |
1 |
66,477,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8874:Map2
|
UTSW |
1 |
66,455,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Map2
|
UTSW |
1 |
66,454,758 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8948:Map2
|
UTSW |
1 |
66,419,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8950:Map2
|
UTSW |
1 |
66,419,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Map2
|
UTSW |
1 |
66,452,473 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8999:Map2
|
UTSW |
1 |
66,452,473 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9072:Map2
|
UTSW |
1 |
66,453,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9088:Map2
|
UTSW |
1 |
66,453,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9089:Map2
|
UTSW |
1 |
66,452,098 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9106:Map2
|
UTSW |
1 |
66,454,522 (GRCm39) |
nonsense |
probably null |
|
|
R9112:Map2
|
UTSW |
1 |
66,472,723 (GRCm39) |
nonsense |
probably null |
|
|
R9120:Map2
|
UTSW |
1 |
66,453,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9161:Map2
|
UTSW |
1 |
66,477,503 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9464:Map2
|
UTSW |
1 |
66,454,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9589:Map2
|
UTSW |
1 |
66,449,753 (GRCm39) |
missense |
probably benign |
|
|
V8831:Map2
|
UTSW |
1 |
66,455,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Map2
|
UTSW |
1 |
66,477,520 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Map2
|
UTSW |
1 |
66,419,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGACTTTGGACAGATGGC -3'
(R):5'- AATCAGCTTCGGAAACTGGAGG -3'
Sequencing Primer
(F):5'- CAGATGGCTTCTGGGATGAATG -3'
(R):5'- GCGGGCAAGGGATTTCTAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation