Incidental Mutation 'R0118:Map6'
| ID |
20926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map6
|
| Ensembl Gene |
ENSMUSG00000055407 |
| Gene Name |
microtubule-associated protein 6 |
| Synonyms |
F-STOP, Mtap6, 2810411E12Rik, STOP |
| MMRRC Submission |
038404-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R0118 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
7 |
| Chromosomal Location |
99267447-99337137 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99317617 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 348
(D348G)
|
| 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 benign
Transcript: ENSMUST00000068973
AA Change: D551G
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000064787
Gene: ENSMUSG00000055407
AA Change: D551G
| 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 benign
Transcript: ENSMUST00000127492
AA Change: D551G
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129058
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207883
AA Change: D551G
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208605
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208924
AA Change: D348G
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209094
|
| Meta Mutation Damage Score |
0.0920 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.2%
- 10x: 89.3%
- 20x: 67.4%
|
| Validation Efficiency |
98% (50/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
T |
C |
9: 30,911,744 (GRCm38) |
R343G |
probably damaging |
Het |
| Asxl2 |
T |
G |
12: 3,496,923 (GRCm38) |
V569G |
probably damaging |
Het |
| Azin2 |
A |
C |
4: 128,949,637 (GRCm38) |
H85Q |
probably damaging |
Het |
| Cacna1a |
C |
T |
8: 84,536,083 (GRCm38) |
R324C |
probably damaging |
Het |
| Ccdc151 |
A |
T |
9: 21,995,057 (GRCm38) |
N224K |
probably benign |
Het |
| Ccr3 |
C |
A |
9: 124,029,610 (GRCm38) |
Y327* |
probably null |
Het |
| Cers2 |
T |
C |
3: 95,320,226 (GRCm38) |
F55S |
probably benign |
Het |
| Cic |
C |
T |
7: 25,286,034 (GRCm38) |
S301L |
probably damaging |
Het |
| Cntnap2 |
T |
C |
6: 45,060,392 (GRCm38) |
|
probably null |
Het |
| Cpn2 |
T |
C |
16: 30,260,368 (GRCm38) |
R172G |
probably benign |
Het |
| Ctdnep1 |
T |
C |
11: 69,988,731 (GRCm38) |
|
probably null |
Het |
| Dennd3 |
T |
A |
15: 73,565,076 (GRCm38) |
Y1051N |
probably damaging |
Het |
| Dmap1 |
T |
G |
4: 117,676,483 (GRCm38) |
Y196S |
probably damaging |
Het |
| Entpd7 |
G |
A |
19: 43,704,312 (GRCm38) |
W102* |
probably null |
Het |
| Frem2 |
A |
T |
3: 53,535,243 (GRCm38) |
C2624* |
probably null |
Het |
| Gdpd3 |
A |
G |
7: 126,770,993 (GRCm38) |
Y238C |
probably damaging |
Het |
| Gjb3 |
A |
G |
4: 127,326,658 (GRCm38) |
V27A |
probably damaging |
Het |
| Kat6b |
T |
C |
14: 21,669,974 (GRCm38) |
F1465L |
probably damaging |
Het |
| Klra17 |
A |
T |
6: 129,831,589 (GRCm38) |
M227K |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 120,025,215 (GRCm38) |
S1472P |
probably benign |
Het |
| Megf6 |
C |
A |
4: 154,254,641 (GRCm38) |
P545Q |
probably damaging |
Het |
| Mertk |
C |
T |
2: 128,759,166 (GRCm38) |
R357W |
probably damaging |
Het |
| Mesd |
T |
A |
7: 83,895,627 (GRCm38) |
I104N |
probably damaging |
Het |
| Mrm3 |
T |
A |
11: 76,249,955 (GRCm38) |
V263E |
possibly damaging |
Het |
| Ndst4 |
T |
A |
3: 125,611,561 (GRCm38) |
Y488* |
probably null |
Het |
| Nfat5 |
C |
T |
8: 107,339,075 (GRCm38) |
R156W |
probably damaging |
Het |
| Nfs1 |
T |
C |
2: 156,134,524 (GRCm38) |
H150R |
probably damaging |
Het |
| Olfr1500 |
A |
G |
19: 13,827,565 (GRCm38) |
F277S |
possibly damaging |
Het |
| Olfr27 |
T |
A |
9: 39,144,103 (GRCm38) |
M1K |
probably null |
Het |
| Olfr353 |
A |
G |
2: 36,890,023 (GRCm38) |
M275T |
probably benign |
Het |
| Olfr923 |
T |
C |
9: 38,827,858 (GRCm38) |
S50P |
possibly damaging |
Het |
| Pcdh8 |
T |
C |
14: 79,767,408 (GRCm38) |
Y1059C |
probably damaging |
Het |
| Pik3r5 |
T |
A |
11: 68,490,480 (GRCm38) |
L164Q |
probably damaging |
Het |
| Polr3g |
T |
C |
13: 81,676,121 (GRCm38) |
|
probably benign |
Het |
| Ppm1e |
T |
A |
11: 87,231,738 (GRCm38) |
K464N |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,346,407 (GRCm38) |
T1037A |
probably damaging |
Het |
| Rpgrip1l |
A |
T |
8: 91,270,122 (GRCm38) |
I108N |
probably damaging |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,177,419 (GRCm38) |
|
probably benign |
Het |
| Spem1 |
T |
C |
11: 69,821,545 (GRCm38) |
K98E |
possibly damaging |
Het |
| St7l |
T |
C |
3: 104,889,303 (GRCm38) |
V237A |
probably damaging |
Het |
| Tbc1d16 |
T |
C |
11: 119,157,816 (GRCm38) |
H337R |
probably damaging |
Het |
| Tbc1d32 |
T |
A |
10: 56,017,605 (GRCm38) |
I1291F |
probably benign |
Het |
| Tnfaip6 |
G |
T |
2: 52,043,815 (GRCm38) |
E61* |
probably null |
Het |
| Trib2 |
A |
T |
12: 15,793,928 (GRCm38) |
W102R |
probably damaging |
Het |
| Uimc1 |
G |
T |
13: 55,085,644 (GRCm38) |
N66K |
probably damaging |
Het |
| Vmn1r63 |
T |
A |
7: 5,802,839 (GRCm38) |
T265S |
probably benign |
Het |
| Vps35 |
G |
A |
8: 85,294,953 (GRCm38) |
T3I |
probably benign |
Het |
| Yeats2 |
T |
A |
16: 20,156,942 (GRCm38) |
L63* |
probably null |
Het |
| Zfp282 |
A |
G |
6: 47,892,932 (GRCm38) |
R304G |
probably benign |
Het |
|
| Other mutations in Map6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0035:Map6
|
UTSW |
7 |
99,317,608 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0035:Map6
|
UTSW |
7 |
99,317,608 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0125:Map6
|
UTSW |
7 |
99,335,980 (GRCm38) |
splice site |
probably null |
|
|
R0244:Map6
|
UTSW |
7 |
99,336,836 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0973:Map6
|
UTSW |
7 |
99,336,743 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R0973:Map6
|
UTSW |
7 |
99,336,743 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R0974:Map6
|
UTSW |
7 |
99,336,743 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R1455:Map6
|
UTSW |
7 |
99,268,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1678:Map6
|
UTSW |
7 |
99,268,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1696:Map6
|
UTSW |
7 |
99,317,457 (GRCm38) |
splice site |
probably null |
|
|
R1866:Map6
|
UTSW |
7 |
99,315,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2061:Map6
|
UTSW |
7 |
99,317,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3236:Map6
|
UTSW |
7 |
99,336,824 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3625:Map6
|
UTSW |
7 |
99,269,195 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R4044:Map6
|
UTSW |
7 |
99,268,049 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4570:Map6
|
UTSW |
7 |
99,336,556 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R5056:Map6
|
UTSW |
7 |
99,336,652 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5065:Map6
|
UTSW |
7 |
99,336,710 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5656:Map6
|
UTSW |
7 |
99,336,298 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6101:Map6
|
UTSW |
7 |
99,268,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6105:Map6
|
UTSW |
7 |
99,268,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6302:Map6
|
UTSW |
7 |
99,336,107 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6450:Map6
|
UTSW |
7 |
99,268,038 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6915:Map6
|
UTSW |
7 |
99,268,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7205:Map6
|
UTSW |
7 |
99,269,050 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7223:Map6
|
UTSW |
7 |
99,268,025 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7293:Map6
|
UTSW |
7 |
99,336,533 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R7481:Map6
|
UTSW |
7 |
99,269,138 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R7489:Map6
|
UTSW |
7 |
99,268,061 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7691:Map6
|
UTSW |
7 |
99,336,292 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7693:Map6
|
UTSW |
7 |
99,336,292 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7695:Map6
|
UTSW |
7 |
99,336,292 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8341:Map6
|
UTSW |
7 |
99,268,440 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R8865:Map6
|
UTSW |
7 |
99,268,985 (GRCm38) |
missense |
probably benign |
0.37 |
|
R8953:Map6
|
UTSW |
7 |
99,315,871 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9108:Map6
|
UTSW |
7 |
99,336,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9173:Map6
|
UTSW |
7 |
99,268,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9613:Map6
|
UTSW |
7 |
99,269,177 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9654:Map6
|
UTSW |
7 |
99,336,959 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Map6
|
UTSW |
7 |
99,317,660 (GRCm38) |
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