Incidental Mutation 'R0035:Map6'
| ID |
19417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map6
|
| Ensembl Gene |
ENSMUSG00000055407 |
| Gene Name |
microtubule-associated protein 6 |
| Synonyms |
Mtap6, 2810411E12Rik, F-STOP, STOP |
| MMRRC Submission |
038329-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R0035 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
7 |
| Chromosomal Location |
98916654-98986344 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 98966815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 345
(T345I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068973]
[ENSMUST00000107100]
[ENSMUST00000122101]
[ENSMUST00000127492]
[ENSMUST00000207883]
[ENSMUST00000208605]
[ENSMUST00000208924]
|
| AlphaFold |
Q7TSJ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068973
AA Change: T548I
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064787
Gene: ENSMUSG00000055407
AA Change: T548I
| 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: ENSMUST00000127492
AA Change: T548I
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129058
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207883
AA Change: T548I
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208605
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208924
AA Change: T345I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209094
|
| Meta Mutation Damage Score |
0.1487 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.1%
|
| Validation Efficiency |
99% (70/71) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040N11Rik |
T |
C |
7: 81,438,297 (GRCm39) |
T20A |
probably benign |
Het |
| Aadacl4 |
A |
G |
4: 144,344,511 (GRCm39) |
T96A |
probably damaging |
Het |
| Abcb6 |
A |
G |
1: 75,151,651 (GRCm39) |
V473A |
possibly damaging |
Het |
| Abo |
C |
A |
2: 26,733,385 (GRCm39) |
K273N |
possibly damaging |
Het |
| Acvr1c |
A |
G |
2: 58,205,791 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,571,217 (GRCm39) |
V1142D |
probably benign |
Het |
| Akna |
T |
A |
4: 63,300,682 (GRCm39) |
H591L |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,393,581 (GRCm39) |
V1247A |
probably benign |
Het |
| Ap4b1 |
T |
C |
3: 103,727,980 (GRCm39) |
|
probably benign |
Het |
| Armh3 |
A |
T |
19: 45,879,679 (GRCm39) |
M558K |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,424,480 (GRCm39) |
V607A |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,041,747 (GRCm39) |
Y2708* |
probably null |
Het |
| Cass4 |
C |
T |
2: 172,258,412 (GRCm39) |
P137S |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,433,278 (GRCm39) |
E121G |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,807,508 (GRCm39) |
V31A |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,508 (GRCm39) |
Y185N |
probably damaging |
Het |
| Clic5 |
A |
G |
17: 44,586,200 (GRCm39) |
T230A |
probably damaging |
Het |
| Clspn |
G |
T |
4: 126,458,796 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
T |
A |
15: 92,129,969 (GRCm39) |
|
probably benign |
Het |
| Col4a3 |
G |
A |
1: 82,650,474 (GRCm39) |
G577R |
unknown |
Het |
| Defa21 |
T |
A |
8: 21,515,784 (GRCm39) |
|
probably null |
Het |
| Deup1 |
T |
C |
9: 15,511,117 (GRCm39) |
R221G |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,902,595 (GRCm39) |
|
probably benign |
Het |
| Dnase1l2 |
A |
G |
17: 24,660,049 (GRCm39) |
V273A |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,829,698 (GRCm39) |
F328Y |
probably benign |
Het |
| Golph3 |
A |
T |
15: 12,339,776 (GRCm39) |
E96D |
probably damaging |
Het |
| Hspd1 |
A |
G |
1: 55,122,942 (GRCm39) |
V151A |
probably benign |
Het |
| Htr1f |
A |
C |
16: 64,746,860 (GRCm39) |
I144S |
probably damaging |
Het |
| Il23r |
A |
G |
6: 67,450,772 (GRCm39) |
|
probably benign |
Het |
| Il25 |
A |
G |
14: 55,170,553 (GRCm39) |
E42G |
probably damaging |
Het |
| Il36b |
A |
T |
2: 24,049,890 (GRCm39) |
H167L |
probably benign |
Het |
| Klrb1-ps1 |
C |
T |
6: 129,106,306 (GRCm39) |
A149V |
possibly damaging |
Het |
| Kmt2e |
T |
A |
5: 23,690,619 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,967,836 (GRCm39) |
N1167D |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,948,734 (GRCm39) |
D832E |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,571,846 (GRCm39) |
S292P |
probably damaging |
Het |
| Mark2 |
A |
T |
19: 7,262,017 (GRCm39) |
|
probably benign |
Het |
| Me3 |
C |
A |
7: 89,500,967 (GRCm39) |
H559Q |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,817,541 (GRCm39) |
F574L |
probably damaging |
Het |
| Nos2 |
T |
C |
11: 78,836,553 (GRCm39) |
S431P |
probably damaging |
Het |
| Nr1h5 |
T |
A |
3: 102,856,889 (GRCm39) |
K208* |
probably null |
Het |
| Nup214 |
T |
C |
2: 31,880,379 (GRCm39) |
|
probably null |
Het |
| Obp2b |
T |
C |
2: 25,628,645 (GRCm39) |
L133P |
probably damaging |
Het |
| Or14a259 |
T |
C |
7: 86,013,395 (GRCm39) |
D50G |
possibly damaging |
Het |
| Or5k1 |
A |
T |
16: 58,617,485 (GRCm39) |
C241* |
probably null |
Het |
| Osbp2 |
C |
T |
11: 3,667,997 (GRCm39) |
|
probably benign |
Het |
| Ptafr |
C |
A |
4: 132,306,864 (GRCm39) |
L85I |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,545,854 (GRCm39) |
|
probably benign |
Het |
| Rasef |
G |
T |
4: 73,681,091 (GRCm39) |
|
probably benign |
Het |
| Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,414,080 (GRCm39) |
I18N |
probably damaging |
Het |
| Tbc1d17 |
T |
C |
7: 44,490,832 (GRCm39) |
N587D |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,195,844 (GRCm39) |
K1289N |
probably benign |
Het |
| Tspyl3 |
A |
G |
2: 153,066,240 (GRCm39) |
S333P |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,089,085 (GRCm39) |
V347I |
probably benign |
Het |
| Usp17le |
G |
T |
7: 104,418,269 (GRCm39) |
S291* |
probably null |
Het |
| Usp24 |
T |
A |
4: 106,225,224 (GRCm39) |
S619T |
probably benign |
Het |
| Vmn2r10 |
T |
C |
5: 109,145,467 (GRCm39) |
|
probably benign |
Het |
| Vmn2r78 |
A |
G |
7: 86,569,413 (GRCm39) |
E102G |
probably benign |
Het |
| Vwa3b |
G |
A |
1: 37,204,770 (GRCm39) |
V85I |
possibly damaging |
Het |
| Wwp1 |
A |
C |
4: 19,631,116 (GRCm39) |
I639R |
probably damaging |
Het |
| Xpo5 |
A |
G |
17: 46,551,101 (GRCm39) |
T1001A |
probably benign |
Het |
| Zc3h12c |
A |
T |
9: 52,055,047 (GRCm39) |
M235K |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,706 (GRCm39) |
G912D |
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 |
|
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 |
|
R3236:Map6
|
UTSW |
7 |
98,986,031 (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'- TGGCCTGCTCACCAAGGAGAAATG -3'
(R):5'- GTAAGAGTCGGTGGCCTCAGAAAC -3'
Sequencing Primer
(F):5'- GGTGCCTATACACTGTGAGATCC -3'
(R):5'- GGTGGCCTCAGAAACATAATTTCTC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation