Incidental Mutation 'R3236:Map6'
ID |
259029 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map6
|
Ensembl Gene |
ENSMUSG00000055407 |
Gene Name |
microtubule-associated protein 6 |
Synonyms |
Mtap6, 2810411E12Rik, F-STOP, STOP |
MMRRC Submission |
040618-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R3236 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
98916654-98986344 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 98986031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 645
(V645E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146954
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068973]
[ENSMUST00000107100]
[ENSMUST00000122101]
[ENSMUST00000207883]
[ENSMUST00000208605]
[ENSMUST00000208924]
|
AlphaFold |
Q7TSJ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068973
AA Change: V848E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064787 Gene: ENSMUSG00000055407 AA Change: V848E
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
57 |
N/A |
INTRINSIC |
low complexity region
|
93 |
117 |
N/A |
INTRINSIC |
internal_repeat_1
|
191 |
306 |
6.21e-27 |
PROSPERO |
internal_repeat_1
|
302 |
398 |
6.21e-27 |
PROSPERO |
low complexity region
|
501 |
525 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107100
|
SMART Domains |
Protein: ENSMUSP00000102717 Gene: ENSMUSG00000055407
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
internal_repeat_1
|
28 |
103 |
5.9e-29 |
PROSPERO |
internal_repeat_1
|
120 |
195 |
5.9e-29 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122101
|
SMART Domains |
Protein: ENSMUSP00000113183 Gene: ENSMUSG00000055407
Domain | Start | End | E-Value | Type |
Pfam:STOP
|
1 |
184 |
1.2e-18 |
PFAM |
internal_repeat_1
|
191 |
306 |
1.99e-35 |
PROSPERO |
internal_repeat_1
|
302 |
398 |
1.99e-35 |
PROSPERO |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207883
AA Change: V848E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208605
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208924
AA Change: V645E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.0942 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
98% (64/65) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding and calmodulin-regulated protein that is involved in microtubule stabilization. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a targeted null mutation are devoid of cold-stable microtubules, and exhibit impaired synaptic plasticity, associated with severe behavioral abnormalities that are specifically ameliorated by long-term administration of neuroleptics. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 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 |
5730455P16Rik |
G |
A |
11: 80,258,996 (GRCm39) |
L255F |
probably damaging |
Het |
Aff2 |
T |
A |
X: 68,907,543 (GRCm39) |
V1175E |
possibly damaging |
Het |
Agbl3 |
A |
G |
6: 34,800,022 (GRCm39) |
|
probably null |
Het |
Armh3 |
A |
T |
19: 45,963,722 (GRCm39) |
|
probably benign |
Het |
Atm |
T |
A |
9: 53,391,048 (GRCm39) |
D1842V |
probably benign |
Het |
Bcar3 |
C |
A |
3: 122,318,645 (GRCm39) |
Q678K |
probably benign |
Het |
Ccdc88a |
A |
G |
11: 29,397,995 (GRCm39) |
T243A |
possibly damaging |
Het |
Col5a3 |
G |
T |
9: 20,718,949 (GRCm39) |
N268K |
unknown |
Het |
Col6a1 |
G |
A |
10: 76,547,154 (GRCm39) |
T737M |
unknown |
Het |
Cyp3a25 |
T |
C |
5: 145,939,938 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,985,680 (GRCm39) |
T1466A |
probably benign |
Het |
Dnah9 |
G |
A |
11: 65,845,815 (GRCm39) |
T3023I |
probably benign |
Het |
Ecm1 |
G |
T |
3: 95,642,158 (GRCm39) |
Q476K |
possibly damaging |
Het |
Eml6 |
A |
G |
11: 29,781,097 (GRCm39) |
|
probably null |
Het |
Fbh1 |
T |
C |
2: 11,774,637 (GRCm39) |
D36G |
probably damaging |
Het |
Fyb1 |
A |
C |
15: 6,659,597 (GRCm39) |
D434A |
probably damaging |
Het |
Gm5478 |
A |
G |
15: 101,552,738 (GRCm39) |
Y398H |
probably damaging |
Het |
H2-Q6 |
C |
A |
17: 35,644,676 (GRCm39) |
T155K |
probably damaging |
Het |
Hk1 |
T |
C |
10: 62,131,798 (GRCm39) |
|
probably null |
Het |
Kdm6b |
A |
G |
11: 69,297,192 (GRCm39) |
Y387H |
probably damaging |
Het |
Lipn |
A |
G |
19: 34,046,138 (GRCm39) |
N37S |
probably benign |
Het |
Lrig3 |
G |
A |
10: 125,833,056 (GRCm39) |
C310Y |
probably damaging |
Het |
Memo1 |
A |
T |
17: 74,509,347 (GRCm39) |
I224K |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,633,612 (GRCm39) |
I602T |
probably benign |
Het |
N4bp3 |
A |
T |
11: 51,536,761 (GRCm39) |
F104Y |
probably damaging |
Het |
Ndrg3 |
T |
A |
2: 156,785,957 (GRCm39) |
I161F |
probably damaging |
Het |
Notch3 |
T |
C |
17: 32,377,435 (GRCm39) |
R214G |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or14j10 |
T |
C |
17: 37,935,127 (GRCm39) |
E133G |
possibly damaging |
Het |
Or4p7 |
T |
C |
2: 88,221,750 (GRCm39) |
I53T |
probably benign |
Het |
Pdgfra |
T |
C |
5: 75,328,597 (GRCm39) |
V243A |
probably damaging |
Het |
Piwil4 |
A |
G |
9: 14,611,544 (GRCm39) |
|
probably benign |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Pon2 |
A |
T |
6: 5,266,986 (GRCm39) |
N252K |
possibly damaging |
Het |
Ptf1a |
T |
C |
2: 19,450,718 (GRCm39) |
F16S |
probably damaging |
Het |
Rasgrp1 |
A |
G |
2: 117,122,293 (GRCm39) |
Y366H |
probably benign |
Het |
Rbfox1 |
G |
A |
16: 7,225,892 (GRCm39) |
V353I |
possibly damaging |
Het |
Rrh |
T |
C |
3: 129,605,360 (GRCm39) |
Y110C |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scaf4 |
T |
A |
16: 90,057,105 (GRCm39) |
D82V |
unknown |
Het |
Serhl |
C |
A |
15: 82,988,604 (GRCm39) |
P177Q |
probably damaging |
Het |
Setdb1 |
A |
G |
3: 95,246,065 (GRCm39) |
V619A |
probably damaging |
Het |
Sf3b3 |
A |
G |
8: 111,538,652 (GRCm39) |
S1123P |
probably damaging |
Het |
Slc1a3 |
T |
C |
15: 8,668,607 (GRCm39) |
I453V |
probably damaging |
Het |
Slf2 |
A |
G |
19: 44,930,773 (GRCm39) |
I617V |
probably benign |
Het |
Snrnp200 |
T |
A |
2: 127,063,802 (GRCm39) |
D660E |
probably damaging |
Het |
Spata22 |
T |
A |
11: 73,236,713 (GRCm39) |
F340I |
probably damaging |
Het |
Speer4e1 |
T |
A |
5: 14,984,939 (GRCm39) |
E206D |
possibly damaging |
Het |
Stard6 |
T |
A |
18: 70,633,557 (GRCm39) |
M188K |
probably damaging |
Het |
Stat6 |
G |
A |
10: 127,488,091 (GRCm39) |
V282I |
possibly damaging |
Het |
Supt20 |
T |
C |
3: 54,616,501 (GRCm39) |
S253P |
possibly damaging |
Het |
Szt2 |
A |
C |
4: 118,240,231 (GRCm39) |
|
probably null |
Het |
Thsd4 |
C |
A |
9: 60,301,670 (GRCm39) |
K208N |
probably benign |
Het |
Thsd7b |
C |
T |
1: 130,145,855 (GRCm39) |
Q1588* |
probably null |
Het |
Tmem167 |
C |
T |
13: 90,252,499 (GRCm39) |
R52C |
probably benign |
Het |
Ttn |
T |
C |
2: 76,729,753 (GRCm39) |
|
probably benign |
Het |
Usp39 |
G |
A |
6: 72,315,372 (GRCm39) |
|
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Vmn2r24 |
C |
T |
6: 123,755,984 (GRCm39) |
Q19* |
probably null |
Het |
Vps13b |
G |
A |
15: 35,910,450 (GRCm39) |
E3405K |
probably benign |
Het |
Zgrf1 |
A |
G |
3: 127,407,024 (GRCm39) |
D1597G |
probably damaging |
Het |
|
Other mutations in Map6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0035:Map6
|
UTSW |
7 |
98,966,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R0035:Map6
|
UTSW |
7 |
98,966,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R0118:Map6
|
UTSW |
7 |
98,966,824 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0125:Map6
|
UTSW |
7 |
98,985,187 (GRCm39) |
splice site |
probably null |
|
R0244:Map6
|
UTSW |
7 |
98,986,043 (GRCm39) |
missense |
probably benign |
0.00 |
R0973:Map6
|
UTSW |
7 |
98,985,950 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0973:Map6
|
UTSW |
7 |
98,985,950 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0974:Map6
|
UTSW |
7 |
98,985,950 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1455:Map6
|
UTSW |
7 |
98,917,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R1678:Map6
|
UTSW |
7 |
98,917,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R1696:Map6
|
UTSW |
7 |
98,966,664 (GRCm39) |
splice site |
probably null |
|
R1866:Map6
|
UTSW |
7 |
98,965,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R2061:Map6
|
UTSW |
7 |
98,966,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R3625:Map6
|
UTSW |
7 |
98,918,402 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4044:Map6
|
UTSW |
7 |
98,917,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R4570:Map6
|
UTSW |
7 |
98,985,763 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5056:Map6
|
UTSW |
7 |
98,985,859 (GRCm39) |
missense |
probably benign |
0.05 |
R5065:Map6
|
UTSW |
7 |
98,985,917 (GRCm39) |
missense |
probably benign |
0.02 |
R5656:Map6
|
UTSW |
7 |
98,985,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R6101:Map6
|
UTSW |
7 |
98,917,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R6105:Map6
|
UTSW |
7 |
98,917,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R6302:Map6
|
UTSW |
7 |
98,985,314 (GRCm39) |
missense |
probably damaging |
0.99 |
R6450:Map6
|
UTSW |
7 |
98,917,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R6915:Map6
|
UTSW |
7 |
98,917,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R7205:Map6
|
UTSW |
7 |
98,918,257 (GRCm39) |
missense |
probably benign |
0.00 |
R7223:Map6
|
UTSW |
7 |
98,917,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R7293:Map6
|
UTSW |
7 |
98,985,740 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7481:Map6
|
UTSW |
7 |
98,918,345 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7489:Map6
|
UTSW |
7 |
98,917,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R7691:Map6
|
UTSW |
7 |
98,985,499 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7693:Map6
|
UTSW |
7 |
98,985,499 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7695:Map6
|
UTSW |
7 |
98,985,499 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8341:Map6
|
UTSW |
7 |
98,917,647 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8865:Map6
|
UTSW |
7 |
98,918,192 (GRCm39) |
missense |
probably benign |
0.37 |
R8953:Map6
|
UTSW |
7 |
98,965,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R9108:Map6
|
UTSW |
7 |
98,986,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R9173:Map6
|
UTSW |
7 |
98,917,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R9613:Map6
|
UTSW |
7 |
98,918,384 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9654:Map6
|
UTSW |
7 |
98,986,166 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Map6
|
UTSW |
7 |
98,966,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGGTATCTGAAGGGACATG -3'
(R):5'- TTCATGGCATTTCAGGGCAATC -3'
Sequencing Primer
(F):5'- CAGGTATCTGAAGGGACATGATTCTG -3'
(R):5'- TTTCAGGGCAATCAAGGGGATCC -3'
|
Posted On |
2015-01-23 |