Incidental Mutation 'R6101:Map6'
| ID |
485255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map6
|
| Ensembl Gene |
ENSMUSG00000055407 |
| Gene Name |
microtubule-associated protein 6 |
| Synonyms |
Mtap6, 2810411E12Rik, F-STOP, STOP |
| MMRRC Submission |
044251-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R6101 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
98916654-98986344 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98917314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 29
(V29A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146585
(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: V29A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000064787
Gene: ENSMUSG00000055407
AA Change: V29A
| 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 |
possibly damaging
Transcript: ENSMUST00000122101
AA Change: V29A
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113183
Gene: ENSMUSG00000055407
AA Change: V29A
| 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: V29A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180761
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207883
AA Change: V29A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208605
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209094
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208924
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
A |
T |
8: 25,460,775 (GRCm39) |
C570S |
probably damaging |
Het |
| Adh6b |
T |
A |
3: 138,063,471 (GRCm39) |
I350K |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,981,463 (GRCm39) |
V916I |
probably benign |
Het |
| Aldh4a1 |
C |
T |
4: 139,365,806 (GRCm39) |
P266S |
possibly damaging |
Het |
| Arhgap11a |
G |
A |
2: 113,665,219 (GRCm39) |
R460* |
probably null |
Het |
| Chl1 |
A |
T |
6: 103,669,993 (GRCm39) |
D477V |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,438,629 (GRCm39) |
L45Q |
probably damaging |
Het |
| Cnot7 |
C |
T |
8: 40,963,078 (GRCm39) |
R32Q |
probably benign |
Het |
| Csrnp1 |
T |
C |
9: 119,802,551 (GRCm39) |
D220G |
probably damaging |
Het |
| Cyb5a |
G |
A |
18: 84,889,718 (GRCm39) |
R49Q |
possibly damaging |
Het |
| Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
| Glul |
T |
A |
1: 153,782,177 (GRCm39) |
Y137* |
probably null |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Igha |
T |
A |
12: 113,220,017 (GRCm39) |
|
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,466,814 (GRCm39) |
S490P |
probably benign |
Het |
| Kxd1 |
A |
T |
8: 70,972,589 (GRCm39) |
N33K |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,607,338 (GRCm39) |
I567T |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,016,749 (GRCm39) |
D355G |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 121,010,671 (GRCm39) |
V437D |
probably damaging |
Het |
| Mief1 |
T |
C |
15: 80,133,941 (GRCm39) |
Y333H |
probably benign |
Het |
| Or12j4 |
T |
A |
7: 140,046,432 (GRCm39) |
V106D |
probably benign |
Het |
| Or4f7 |
A |
G |
2: 111,644,598 (GRCm39) |
F158L |
probably benign |
Het |
| Or8b52 |
A |
G |
9: 38,576,916 (GRCm39) |
S75P |
probably damaging |
Het |
| Or8d2b |
T |
C |
9: 38,788,604 (GRCm39) |
L44P |
possibly damaging |
Het |
| Pak1ip1 |
T |
A |
13: 41,158,361 (GRCm39) |
L78Q |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,303,504 (GRCm39) |
|
probably null |
Het |
| Pinlyp |
C |
T |
7: 24,245,405 (GRCm39) |
R5K |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,367,478 (GRCm39) |
D1225G |
probably damaging |
Het |
| Pnma8b |
T |
A |
7: 16,680,493 (GRCm39) |
S492R |
probably benign |
Het |
| Postn |
A |
G |
3: 54,279,641 (GRCm39) |
|
probably null |
Het |
| Ptprq |
A |
G |
10: 107,416,127 (GRCm39) |
Y1724H |
possibly damaging |
Het |
| Rpn2 |
T |
A |
2: 157,152,108 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
G |
9: 119,351,716 (GRCm39) |
V755A |
probably damaging |
Het |
| Slc22a30 |
T |
C |
19: 8,315,232 (GRCm39) |
|
probably null |
Het |
| Specc1l |
T |
C |
10: 75,084,466 (GRCm39) |
S730P |
probably damaging |
Het |
| Steap2 |
T |
A |
5: 5,725,891 (GRCm39) |
I378F |
possibly damaging |
Het |
| Tdrd12 |
A |
T |
7: 35,180,558 (GRCm39) |
Y818* |
probably null |
Het |
| Thbs4 |
G |
T |
13: 92,911,993 (GRCm39) |
Q246K |
possibly damaging |
Het |
| Tnfsf10 |
A |
G |
3: 27,389,698 (GRCm39) |
Y253C |
probably damaging |
Het |
| Tnpo3 |
G |
T |
6: 29,588,042 (GRCm39) |
C125* |
probably null |
Het |
| Trim58 |
A |
G |
11: 58,542,441 (GRCm39) |
N467S |
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,831,112 (GRCm39) |
R1326* |
probably null |
Het |
| Zc3hav1l |
A |
G |
6: 38,270,012 (GRCm39) |
V279A |
probably benign |
Het |
| Zfp618 |
A |
T |
4: 63,051,478 (GRCm39) |
Q753L |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zkscan17 |
A |
T |
11: 59,394,401 (GRCm39) |
C67S |
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 |
|
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 |
|
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'- ATCTCAGCGGTACCTTGTCC -3'
(R):5'- AAGTCCTTCTGGTACTGGGTCTC -3'
Sequencing Primer
(F):5'- TCCCCGGGTGCTCTTTGAG -3'
(R):5'- TAGTCCTGTCGCATCACCGAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation