Incidental Mutation 'R9108:Map6'
| ID |
692078 |
| 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 # |
R9108 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
98916654-98986344 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98986103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 872
(L872P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064787
(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: L872P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064787
Gene: ENSMUSG00000055407
AA Change: L872P
| 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: L872P
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: L669P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
G |
A |
18: 6,638,794 (GRCm39) |
V398M |
probably benign |
Het |
| 4930568D16Rik |
G |
A |
2: 35,244,942 (GRCm39) |
P137S |
probably damaging |
Het |
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Abcg8 |
A |
C |
17: 85,000,243 (GRCm39) |
I268L |
probably benign |
Het |
| Acvrl1 |
A |
G |
15: 101,039,038 (GRCm39) |
Q445R |
probably damaging |
Het |
| Adam17 |
T |
C |
12: 21,380,132 (GRCm39) |
N625D |
probably benign |
Het |
| Adamts9 |
C |
T |
6: 92,857,721 (GRCm39) |
V856M |
probably damaging |
Het |
| Adar |
T |
C |
3: 89,643,474 (GRCm39) |
C452R |
probably damaging |
Het |
| Adgra3 |
G |
T |
5: 50,136,295 (GRCm39) |
A730D |
probably damaging |
Het |
| Adnp2 |
C |
T |
18: 80,185,925 (GRCm39) |
R16Q |
probably damaging |
Het |
| Aox1 |
T |
C |
1: 58,321,851 (GRCm39) |
C48R |
probably damaging |
Het |
| Cabin1 |
T |
C |
10: 75,492,973 (GRCm39) |
E1774G |
possibly damaging |
Het |
| Capsl |
A |
T |
15: 9,465,910 (GRCm39) |
I199F |
possibly damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,718,512 (GRCm39) |
D36E |
possibly damaging |
Het |
| Cep170 |
T |
A |
1: 176,616,051 (GRCm39) |
K86* |
probably null |
Het |
| Cnnm1 |
T |
C |
19: 43,464,649 (GRCm39) |
F736S |
possibly damaging |
Het |
| Col11a2 |
T |
A |
17: 34,276,634 (GRCm39) |
V532E |
probably benign |
Het |
| Dnmt3l |
T |
C |
10: 77,892,756 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
T |
A |
12: 110,622,706 (GRCm39) |
|
probably benign |
Het |
| Dzank1 |
C |
A |
2: 144,364,391 (GRCm39) |
V69L |
probably benign |
Het |
| Epor |
T |
G |
9: 21,870,875 (GRCm39) |
E335A |
probably damaging |
Het |
| Fbxo46 |
A |
T |
7: 18,870,308 (GRCm39) |
Y309F |
probably damaging |
Het |
| Fra10ac1 |
A |
T |
19: 38,202,779 (GRCm39) |
|
probably benign |
Het |
| Gid8 |
G |
T |
2: 180,352,132 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
T |
G |
3: 36,080,036 (GRCm39) |
*240C |
probably null |
Het |
| Gnptab |
C |
T |
10: 88,269,400 (GRCm39) |
S701L |
|
Het |
| Ifnl3 |
T |
C |
7: 28,223,704 (GRCm39) |
L180P |
probably benign |
Het |
| Ikzf2 |
T |
A |
1: 69,577,956 (GRCm39) |
I518F |
probably damaging |
Het |
| Ildr1 |
A |
G |
16: 36,535,919 (GRCm39) |
T145A |
probably benign |
Het |
| Kiss1r |
A |
T |
10: 79,754,336 (GRCm39) |
|
probably benign |
Het |
| Lhpp |
A |
G |
7: 132,252,018 (GRCm39) |
D219G |
probably damaging |
Het |
| Lrp1 |
A |
T |
10: 127,390,206 (GRCm39) |
M3071K |
probably damaging |
Het |
| Mgst2 |
T |
A |
3: 51,589,233 (GRCm39) |
L82Q |
probably damaging |
Het |
| Mier2 |
A |
T |
10: 79,377,756 (GRCm39) |
V399E |
probably benign |
Het |
| Nms |
T |
C |
1: 38,985,147 (GRCm39) |
V91A |
possibly damaging |
Het |
| Nt5dc2 |
T |
A |
14: 30,857,016 (GRCm39) |
Y145* |
probably null |
Het |
| Olfml2a |
A |
T |
2: 38,831,753 (GRCm39) |
M111L |
probably benign |
Het |
| Or5p63 |
T |
C |
7: 107,810,846 (GRCm39) |
N297D |
probably damaging |
Het |
| Or5p75-ps1 |
T |
A |
7: 108,107,779 (GRCm39) |
L172Q |
unknown |
Het |
| Plod3 |
T |
C |
5: 137,018,017 (GRCm39) |
I221T |
probably damaging |
Het |
| Polm |
T |
C |
11: 5,779,872 (GRCm39) |
Q342R |
probably benign |
Het |
| Ppp2r5c |
A |
T |
12: 110,521,303 (GRCm39) |
L275F |
probably damaging |
Het |
| Prdm12 |
C |
T |
2: 31,533,929 (GRCm39) |
T182M |
possibly damaging |
Het |
| Rasgrp2 |
G |
A |
19: 6,458,890 (GRCm39) |
V440M |
probably damaging |
Het |
| Rnf111 |
C |
T |
9: 70,336,846 (GRCm39) |
G947D |
probably damaging |
Het |
| Runx3 |
A |
T |
4: 134,882,692 (GRCm39) |
M143L |
probably damaging |
Het |
| Samd9l |
T |
C |
6: 3,373,104 (GRCm39) |
S1386G |
possibly damaging |
Het |
| Saxo2 |
C |
T |
7: 82,284,082 (GRCm39) |
V259I |
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,087,975 (GRCm39) |
S242P |
probably damaging |
Het |
| Slc35e1 |
G |
A |
8: 73,246,030 (GRCm39) |
P134L |
|
Het |
| Spata31d1a |
A |
G |
13: 59,850,982 (GRCm39) |
V382A |
probably benign |
Het |
| Tanc2 |
T |
A |
11: 105,810,580 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,766,271 (GRCm39) |
|
probably null |
Het |
| Trip10 |
C |
T |
17: 57,560,519 (GRCm39) |
A123V |
probably damaging |
Het |
| Trmt13 |
A |
G |
3: 116,375,129 (GRCm39) |
S460P |
probably damaging |
Het |
| Trpd52l3 |
A |
G |
19: 29,981,329 (GRCm39) |
N28S |
probably benign |
Het |
| Tubb4a |
A |
G |
17: 57,388,232 (GRCm39) |
F265L |
probably benign |
Het |
| Uba6 |
A |
T |
5: 86,282,934 (GRCm39) |
C581S |
possibly damaging |
Het |
| Uckl1 |
A |
G |
2: 181,211,293 (GRCm39) |
V512A |
probably damaging |
Het |
| Usp34 |
A |
T |
11: 23,320,528 (GRCm39) |
M957L |
|
Het |
| Vmn2r57 |
T |
C |
7: 41,078,192 (GRCm39) |
I89V |
possibly damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,109,969 (GRCm39) |
C220S |
possibly damaging |
Het |
| Zfp322a |
T |
C |
13: 23,541,437 (GRCm39) |
I102V |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,790,604 (GRCm39) |
D2186G |
probably benign |
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 |
|
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'- AGAACCAAGGTCCAGTGATCC -3'
(R):5'- TATGACTTTGCCTCCCCAGAAG -3'
Sequencing Primer
(F):5'- TGATCCCTGAGCCAGTGAAG -3'
(R):5'- TCCGTATGGGGAACTGTT -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation