Incidental Mutation 'R6915:Map6'
| ID |
554320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map6
|
| Ensembl Gene |
ENSMUSG00000055407 |
| Gene Name |
microtubule-associated protein 6 |
| Synonyms |
Mtap6, 2810411E12Rik, F-STOP, STOP |
| MMRRC Submission |
045036-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R6915 (G1)
|
| Quality Score |
55.0072 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
98916654-98986344 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98917454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 76
(A76T)
|
| 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: A76T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000064787
Gene: ENSMUSG00000055407
AA Change: A76T
| 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 damaging
Transcript: ENSMUST00000122101
AA Change: A76T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113183
Gene: ENSMUSG00000055407
AA Change: A76T
| 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: A76T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207883
AA Change: A76T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208605
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208924
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| Validation Efficiency |
97% (63/65) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
C |
A |
12: 88,422,390 (GRCm39) |
L334I |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,010,551 (GRCm39) |
M436K |
probably benign |
Het |
| Ankmy1 |
A |
C |
1: 92,816,173 (GRCm39) |
F314V |
probably null |
Het |
| Arid5b |
G |
A |
10: 68,022,042 (GRCm39) |
Q183* |
probably null |
Het |
| Atp8b4 |
A |
T |
2: 126,200,834 (GRCm39) |
L778* |
probably null |
Het |
| BC024139 |
G |
T |
15: 76,004,221 (GRCm39) |
N739K |
probably benign |
Het |
| Carns1 |
T |
G |
19: 4,219,912 (GRCm39) |
H441P |
probably benign |
Het |
| Cby2 |
T |
A |
14: 75,830,098 (GRCm39) |
T32S |
probably benign |
Het |
| Ccdc121rt3 |
A |
T |
5: 112,502,523 (GRCm39) |
W394R |
probably damaging |
Het |
| Cfap70 |
T |
A |
14: 20,459,153 (GRCm39) |
I693F |
probably benign |
Het |
| Cldn3 |
A |
G |
5: 135,015,426 (GRCm39) |
Q43R |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,796,686 (GRCm39) |
P1608L |
probably benign |
Het |
| Cr2 |
T |
A |
1: 194,853,454 (GRCm39) |
Y28F |
probably benign |
Het |
| Cyp2c38 |
T |
A |
19: 39,424,512 (GRCm39) |
I269F |
probably damaging |
Het |
| Dapk1 |
A |
T |
13: 60,844,256 (GRCm39) |
I92F |
probably damaging |
Het |
| Dennd4a |
T |
A |
9: 64,759,771 (GRCm39) |
L292* |
probably null |
Het |
| Dhx38 |
T |
C |
8: 110,286,231 (GRCm39) |
E353G |
probably benign |
Het |
| Dnm3 |
T |
C |
1: 162,145,966 (GRCm39) |
|
probably null |
Het |
| Dzip3 |
T |
C |
16: 48,762,488 (GRCm39) |
I794V |
possibly damaging |
Het |
| Eif2b5 |
T |
A |
16: 20,321,500 (GRCm39) |
V351D |
possibly damaging |
Het |
| Epg5 |
T |
A |
18: 78,022,380 (GRCm39) |
V1041E |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,898,388 (GRCm39) |
K869R |
possibly damaging |
Het |
| Fat3 |
C |
A |
9: 16,289,044 (GRCm39) |
V160F |
probably benign |
Het |
| Gak |
A |
T |
5: 108,750,816 (GRCm39) |
Y365N |
probably benign |
Het |
| Ghrhr |
T |
A |
6: 55,360,104 (GRCm39) |
|
probably null |
Het |
| Gm21738 |
A |
G |
14: 19,415,933 (GRCm38) |
M202T |
probably benign |
Het |
| Havcr2 |
C |
T |
11: 46,366,738 (GRCm39) |
S177L |
probably benign |
Het |
| Hkdc1 |
G |
C |
10: 62,237,711 (GRCm39) |
R353G |
possibly damaging |
Het |
| Ifi208 |
G |
A |
1: 173,510,444 (GRCm39) |
G200S |
probably damaging |
Het |
| Klhl20 |
T |
C |
1: 160,921,266 (GRCm39) |
D63G |
possibly damaging |
Het |
| Lair1 |
A |
T |
7: 4,058,952 (GRCm39) |
V12E |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,562,293 (GRCm39) |
N26D |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,900,629 (GRCm39) |
D3168E |
probably benign |
Het |
| Mcoln3 |
A |
T |
3: 145,843,011 (GRCm39) |
|
probably null |
Het |
| Muc4 |
T |
C |
16: 32,587,312 (GRCm39) |
F2718L |
probably benign |
Het |
| Nek11 |
C |
G |
9: 105,270,256 (GRCm39) |
|
probably benign |
Het |
| Or10n7-ps1 |
T |
C |
9: 39,597,832 (GRCm39) |
E136G |
unknown |
Het |
| Or2z8 |
C |
A |
8: 72,811,574 (GRCm39) |
L17I |
probably benign |
Het |
| Or4d6 |
A |
G |
19: 12,086,490 (GRCm39) |
V140A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,479,641 (GRCm39) |
E846V |
probably benign |
Het |
| Pcdhga8 |
C |
T |
18: 37,858,998 (GRCm39) |
T18M |
probably benign |
Het |
| Per3 |
T |
C |
4: 151,128,106 (GRCm39) |
M61V |
possibly damaging |
Het |
| Pfas |
C |
T |
11: 68,883,007 (GRCm39) |
R759Q |
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,156,947 (GRCm39) |
Y490C |
possibly damaging |
Het |
| Plcb4 |
A |
T |
2: 135,789,035 (GRCm39) |
I272F |
possibly damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,851,821 (GRCm39) |
Y220C |
probably damaging |
Het |
| Prkce |
G |
C |
17: 86,800,835 (GRCm39) |
G417A |
probably damaging |
Het |
| Ptar1 |
A |
G |
19: 23,680,501 (GRCm39) |
N106D |
probably damaging |
Het |
| Rbm15 |
C |
A |
3: 107,239,627 (GRCm39) |
R257L |
probably benign |
Het |
| Rptor |
T |
G |
11: 119,647,171 (GRCm39) |
M254R |
probably damaging |
Het |
| Runx1t1 |
T |
A |
4: 13,865,257 (GRCm39) |
W350R |
probably damaging |
Het |
| Ryr2 |
T |
G |
13: 11,760,487 (GRCm39) |
Y1532S |
probably damaging |
Het |
| Serpina1a |
C |
A |
12: 103,820,110 (GRCm39) |
V379L |
possibly damaging |
Het |
| Sox8 |
C |
T |
17: 25,786,888 (GRCm39) |
V272I |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,533,111 (GRCm39) |
H3123Y |
probably benign |
Het |
| Taar9 |
C |
T |
10: 23,984,910 (GRCm39) |
E175K |
possibly damaging |
Het |
| Tinag |
T |
A |
9: 76,908,897 (GRCm39) |
Y348F |
probably damaging |
Het |
| Tktl2 |
T |
C |
8: 66,965,687 (GRCm39) |
I415T |
probably damaging |
Het |
| Tm7sf2 |
G |
T |
19: 6,118,342 (GRCm39) |
R718S |
probably damaging |
Het |
| Tmem229a |
G |
T |
6: 24,954,657 (GRCm39) |
Q366K |
probably benign |
Het |
| Txndc2 |
T |
C |
17: 65,945,286 (GRCm39) |
D297G |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,087,886 (GRCm39) |
F269L |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,151,512 (GRCm39) |
Y738* |
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 |
|
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'- TCTGGAACCAGCTGGACAAG -3'
(R):5'- AAGTCCTTCTGGTACTGGGTC -3'
Sequencing Primer
(F):5'- CTGGACAAGGCGGACATTGC -3'
(R):5'- ACGGCTGGTACTCGCTG -3'
|
| Posted On |
2019-05-30 |
Incidental Mutation