Incidental Mutation 'R9613:Map6'
| ID |
724383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map6
|
| Ensembl Gene |
ENSMUSG00000055407 |
| Gene Name |
microtubule-associated protein 6 |
| Synonyms |
Mtap6, 2810411E12Rik, F-STOP, STOP |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R9613 (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 98918384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 386
(S386P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068973]
[ENSMUST00000107100]
[ENSMUST00000122101]
[ENSMUST00000127492]
[ENSMUST00000207883]
[ENSMUST00000208605]
[ENSMUST00000208924]
|
| AlphaFold |
Q7TSJ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068973
AA Change: S386P
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000064787
Gene: ENSMUSG00000055407
AA Change: S386P
| 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 |
possibly damaging
Transcript: ENSMUST00000107100
AA Change: S183P
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102717
Gene: ENSMUSG00000055407
AA Change: S183P
| 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: S386P
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113183
Gene: ENSMUSG00000055407
AA Change: S386P
| 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 |
possibly damaging
Transcript: ENSMUST00000127492
AA Change: S386P
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207883
AA Change: S386P
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208605
AA Change: S183P
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208924
AA Change: S183P
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,771,126 (GRCm39) |
R105H |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,731,824 (GRCm39) |
N2071K |
probably benign |
Het |
| Chd9 |
C |
A |
8: 91,683,150 (GRCm39) |
S530* |
probably null |
Het |
| Col6a6 |
G |
A |
9: 105,616,401 (GRCm39) |
H1558Y |
probably benign |
Het |
| Cyp7a1 |
A |
G |
4: 6,272,587 (GRCm39) |
F209L |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,060,737 (GRCm39) |
Y702H |
probably benign |
Het |
| Ddx46 |
T |
A |
13: 55,787,749 (GRCm39) |
|
probably null |
Het |
| Dgat2 |
C |
G |
7: 98,831,692 (GRCm39) |
G10R |
probably benign |
Het |
| Dync2h1 |
T |
A |
9: 7,075,769 (GRCm39) |
M3033L |
probably damaging |
Het |
| Eef1g |
A |
G |
19: 8,955,018 (GRCm39) |
N367S |
probably benign |
Het |
| Eef2kmt |
T |
G |
16: 5,067,272 (GRCm39) |
E94A |
possibly damaging |
Het |
| Ermp1 |
C |
A |
19: 29,617,256 (GRCm39) |
|
probably null |
Het |
| Ewsr1 |
A |
C |
11: 5,028,924 (GRCm39) |
D346E |
unknown |
Het |
| Fam227a |
G |
A |
15: 79,518,284 (GRCm39) |
T340M |
probably benign |
Het |
| Fxr1 |
G |
A |
3: 34,100,352 (GRCm39) |
V104I |
probably benign |
Het |
| Gm6176 |
A |
G |
7: 21,750,529 (GRCm39) |
V134A |
possibly damaging |
Het |
| Igdcc4 |
G |
A |
9: 65,027,522 (GRCm39) |
V195I |
possibly damaging |
Het |
| Ighv2-5 |
A |
G |
12: 113,649,189 (GRCm39) |
I88T |
|
Het |
| Irf8 |
A |
T |
8: 121,481,207 (GRCm39) |
T355S |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,919,934 (GRCm39) |
S751T |
possibly damaging |
Het |
| Kitl |
A |
G |
10: 99,916,781 (GRCm39) |
N195D |
probably damaging |
Het |
| Kmt2d |
CTGTTG |
CTG |
15: 98,743,057 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,420,288 (GRCm39) |
F322S |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,901,035 (GRCm39) |
D906G |
possibly damaging |
Het |
| Oacyl |
A |
C |
18: 65,864,524 (GRCm39) |
T356P |
probably damaging |
Het |
| Or1e28-ps1 |
A |
T |
11: 73,615,639 (GRCm39) |
D70E |
probably damaging |
Het |
| Or2at1 |
A |
G |
7: 99,416,536 (GRCm39) |
T56A |
probably benign |
Het |
| Plekha1 |
C |
A |
7: 130,479,488 (GRCm39) |
P2H |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,107,620 (GRCm39) |
D1050E |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,048,496 (GRCm39) |
T638A |
probably benign |
Het |
| Pole4 |
T |
C |
6: 82,629,099 (GRCm39) |
Q89R |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,331,660 (GRCm39) |
T338A |
unknown |
Het |
| Prpf3 |
G |
A |
3: 95,758,931 (GRCm39) |
R74* |
probably null |
Het |
| Prss44 |
C |
A |
9: 110,643,806 (GRCm39) |
A150E |
probably damaging |
Het |
| Prss51 |
T |
A |
14: 64,332,461 (GRCm39) |
V2E |
possibly damaging |
Het |
| Ptpn12 |
A |
G |
5: 21,203,621 (GRCm39) |
Y386H |
probably damaging |
Het |
| Septin4 |
A |
T |
11: 87,469,823 (GRCm39) |
H3L |
possibly damaging |
Het |
| Spata16 |
G |
A |
3: 26,932,814 (GRCm39) |
V347M |
probably damaging |
Het |
| Spata31f1e |
A |
G |
4: 42,792,992 (GRCm39) |
V380A |
probably benign |
Het |
| Spinkl |
T |
A |
18: 44,301,212 (GRCm39) |
Y42F |
probably damaging |
Het |
| Suds3 |
A |
T |
5: 117,243,234 (GRCm39) |
M168K |
possibly damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,939,518 (GRCm39) |
I510T |
probably damaging |
Het |
| Tnfrsf22 |
T |
C |
7: 143,198,583 (GRCm39) |
H44R |
probably benign |
Het |
| Trh |
G |
A |
6: 92,219,840 (GRCm39) |
R159* |
probably null |
Het |
| Ubr4 |
C |
A |
4: 139,149,073 (GRCm39) |
S457R |
|
Het |
| Usp54 |
T |
C |
14: 20,600,438 (GRCm39) |
Y1433C |
probably damaging |
Het |
| Vmn1r120 |
G |
A |
7: 20,787,046 (GRCm39) |
L222F |
probably benign |
Het |
| Vmn2r22 |
T |
C |
6: 123,615,075 (GRCm39) |
I172V |
probably damaging |
Het |
| Vmn2r84 |
A |
G |
10: 130,226,591 (GRCm39) |
S416P |
probably damaging |
Het |
| Wapl |
T |
C |
14: 34,453,520 (GRCm39) |
V855A |
probably benign |
Het |
| Zmynd19 |
A |
G |
2: 24,848,217 (GRCm39) |
I177V |
|
Het |
| Zscan4e |
G |
A |
7: 11,040,898 (GRCm39) |
Q325* |
probably null |
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 |
|
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 |
|
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'- TGCAGATCAGCGTGACACAC -3'
(R):5'- TCTGGAATGTGGCTGAAGAG -3'
Sequencing Primer
(F):5'- CACACGCAGGAAGGCTG -3'
(R):5'- TCTGGCCCTGGAGAAGAAGC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation