Incidental Mutation 'R6450:Map6'
| ID |
519349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map6
|
| Ensembl Gene |
ENSMUSG00000055407 |
| Gene Name |
microtubule-associated protein 6 |
| Synonyms |
Mtap6, 2810411E12Rik, F-STOP, STOP |
| MMRRC Submission |
044586-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R6450 (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 98917245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 6
(I6T)
|
| 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: I6T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000064787
Gene: ENSMUSG00000055407
AA Change: I6T
| 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: I6T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113183
Gene: ENSMUSG00000055407
AA Change: I6T
| 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: I6T
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: I6T
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
|
| Meta Mutation Damage Score |
0.8825 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.5%
- 20x: 95.1%
|
| Validation Efficiency |
97% (68/70) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
C |
G |
7: 119,815,449 (GRCm39) |
N232K |
probably benign |
Het |
| Acaca |
T |
A |
11: 84,171,294 (GRCm39) |
V5E |
probably damaging |
Het |
| Adam18 |
A |
T |
8: 25,119,691 (GRCm39) |
D529E |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,459,683 (GRCm39) |
T798A |
probably benign |
Het |
| Alyref |
T |
C |
11: 120,486,872 (GRCm39) |
T130A |
probably benign |
Het |
| Arhgap24 |
A |
G |
5: 103,044,990 (GRCm39) |
S591G |
probably benign |
Het |
| Carmil1 |
C |
T |
13: 24,220,547 (GRCm39) |
G655E |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,364,518 (GRCm39) |
|
probably null |
Het |
| Clec12a |
T |
A |
6: 129,330,366 (GRCm39) |
L48H |
probably damaging |
Het |
| Coq2 |
C |
A |
5: 100,809,770 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
C |
A |
2: 37,683,838 (GRCm39) |
F1113L |
possibly damaging |
Het |
| Ctla4 |
A |
T |
1: 60,951,872 (GRCm39) |
M134L |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dync2i1 |
A |
T |
12: 116,210,347 (GRCm39) |
Y314* |
probably null |
Het |
| Efhb |
A |
G |
17: 53,759,632 (GRCm39) |
V290A |
possibly damaging |
Het |
| Epha8 |
T |
C |
4: 136,659,210 (GRCm39) |
N843S |
probably damaging |
Het |
| Eva1a |
A |
T |
6: 82,069,086 (GRCm39) |
I138F |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,180,136 (GRCm39) |
I1402F |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,910,466 (GRCm39) |
H1845Q |
possibly damaging |
Het |
| Gimap8 |
T |
A |
6: 48,633,385 (GRCm39) |
F401L |
probably benign |
Het |
| Gpr162 |
C |
T |
6: 124,838,152 (GRCm39) |
R166Q |
possibly damaging |
Het |
| H2ac8 |
A |
G |
13: 23,755,119 (GRCm39) |
V55A |
probably damaging |
Het |
| Hdac4 |
G |
A |
1: 91,912,433 (GRCm39) |
P348S |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,251,812 (GRCm39) |
V849A |
probably benign |
Het |
| Inpp5b |
T |
A |
4: 124,686,045 (GRCm39) |
N696K |
probably damaging |
Het |
| Kdm5d |
G |
T |
Y: 927,056 (GRCm39) |
R598L |
probably damaging |
Homo |
| Kidins220 |
T |
C |
12: 25,107,190 (GRCm39) |
S1548P |
probably benign |
Het |
| Kif2b |
C |
A |
11: 91,467,192 (GRCm39) |
V364L |
probably damaging |
Het |
| Kitl |
A |
G |
10: 99,923,256 (GRCm39) |
M1V |
probably null |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Mastl |
T |
C |
2: 23,010,941 (GRCm39) |
T768A |
probably damaging |
Het |
| Mettl16 |
T |
C |
11: 74,696,164 (GRCm39) |
V335A |
probably benign |
Het |
| Mpl |
T |
C |
4: 118,305,897 (GRCm39) |
|
probably null |
Het |
| Myo5c |
C |
T |
9: 75,193,860 (GRCm39) |
T1205I |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,244,114 (GRCm39) |
L2114I |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,084,481 (GRCm39) |
K5330* |
probably null |
Het |
| Nfe2l1 |
C |
T |
11: 96,718,161 (GRCm39) |
E125K |
possibly damaging |
Het |
| Onecut3 |
A |
G |
10: 80,331,922 (GRCm39) |
K361E |
probably damaging |
Het |
| Or4f47 |
T |
A |
2: 111,972,725 (GRCm39) |
L145* |
probably null |
Het |
| Osbpl6 |
A |
G |
2: 76,395,174 (GRCm39) |
N370S |
possibly damaging |
Het |
| Otud4 |
T |
A |
8: 80,399,626 (GRCm39) |
M780K |
probably benign |
Het |
| P2rx4 |
A |
G |
5: 122,865,304 (GRCm39) |
T310A |
possibly damaging |
Het |
| Pcdha11 |
G |
T |
18: 37,146,215 (GRCm39) |
D769Y |
probably damaging |
Het |
| Pcgf6 |
C |
T |
19: 47,037,527 (GRCm39) |
R124H |
probably benign |
Het |
| Pibf1 |
T |
A |
14: 99,374,646 (GRCm39) |
Y362N |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,360,468 (GRCm39) |
E422G |
probably benign |
Het |
| Prmt8 |
T |
C |
6: 127,709,606 (GRCm39) |
I85V |
possibly damaging |
Het |
| Prss27 |
A |
T |
17: 24,263,988 (GRCm39) |
K225* |
probably null |
Het |
| Rai1 |
A |
T |
11: 60,077,429 (GRCm39) |
T498S |
probably benign |
Het |
| Sbf2 |
C |
A |
7: 110,062,070 (GRCm39) |
G23V |
probably damaging |
Het |
| Sdha |
C |
T |
13: 74,482,412 (GRCm39) |
|
probably null |
Het |
| Sgo2a |
C |
T |
1: 58,042,092 (GRCm39) |
Q140* |
probably null |
Het |
| Sh3rf3 |
A |
G |
10: 58,819,966 (GRCm39) |
D259G |
probably damaging |
Het |
| Slc27a3 |
C |
A |
3: 90,292,777 (GRCm39) |
D631Y |
probably damaging |
Het |
| Slc7a10 |
T |
C |
7: 34,886,015 (GRCm39) |
S37P |
possibly damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,349,192 (GRCm39) |
T88A |
probably benign |
Het |
| Smad4 |
A |
T |
18: 73,810,817 (GRCm39) |
S56T |
possibly damaging |
Het |
| Smarcd1 |
A |
G |
15: 99,605,766 (GRCm39) |
I346V |
possibly damaging |
Het |
| Spast |
C |
T |
17: 74,675,835 (GRCm39) |
P260S |
probably benign |
Het |
| Spata31f1e |
C |
A |
4: 42,792,489 (GRCm39) |
G548W |
probably damaging |
Het |
| Sprr2i |
A |
T |
3: 92,316,017 (GRCm39) |
|
probably benign |
Het |
| Sptbn5 |
A |
G |
2: 119,877,616 (GRCm39) |
|
probably benign |
Het |
| Taar9 |
A |
T |
10: 23,985,138 (GRCm39) |
Y99N |
probably damaging |
Het |
| Trappc10 |
A |
T |
10: 78,045,284 (GRCm39) |
M468K |
possibly damaging |
Het |
| Trim66 |
T |
C |
7: 109,059,945 (GRCm39) |
R814G |
probably benign |
Het |
| Tspan31 |
A |
G |
10: 126,904,227 (GRCm39) |
C157R |
probably damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,953,498 (GRCm39) |
D554G |
possibly damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,305,527 (GRCm39) |
D70V |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,830,649 (GRCm39) |
G928R |
probably damaging |
Het |
| Zfp346 |
G |
T |
13: 55,261,517 (GRCm39) |
K102N |
probably damaging |
Het |
| Zmym4 |
G |
A |
4: 126,789,099 (GRCm39) |
P1002S |
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 |
|
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 |
|
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'- GACTTTATCTCAGCGGTACCTTGTC -3'
(R):5'- AGTCCTTCTGGTACTGGGTCTC -3'
Sequencing Primer
(F):5'- TCCCCGGGTGCTCTTTGAG -3'
(R):5'- TAGTCCTGTCGCATCACCGAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation