Incidental Mutation 'R7481:Map6'
| ID |
579804 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map6
|
| Ensembl Gene |
ENSMUSG00000055407 |
| Gene Name |
microtubule-associated protein 6 |
| Synonyms |
Mtap6, 2810411E12Rik, F-STOP, STOP |
| MMRRC Submission |
045555-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R7481 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
98916654-98986344 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98918345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 373
(T373S)
|
| 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: T373S
PolyPhen 2
Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000064787
Gene: ENSMUSG00000055407
AA Change: T373S
| 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 damaging
Transcript: ENSMUST00000107100
AA Change: T170S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102717
Gene: ENSMUSG00000055407
AA Change: T170S
| 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: T373S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113183
Gene: ENSMUSG00000055407
AA Change: T373S
| 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: T373S
PolyPhen 2
Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207883
AA Change: T373S
PolyPhen 2
Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208605
AA Change: T170S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208924
AA Change: T170S
PolyPhen 2
Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,494,575 (GRCm39) |
F68S |
unknown |
Het |
| Abcb6 |
A |
G |
1: 75,150,248 (GRCm39) |
F637L |
probably damaging |
Het |
| Aldh3b3 |
A |
G |
19: 4,014,549 (GRCm39) |
M95V |
probably benign |
Het |
| Arhgap45 |
A |
T |
10: 79,858,134 (GRCm39) |
H387L |
possibly damaging |
Het |
| Avil |
C |
T |
10: 126,843,460 (GRCm39) |
T130I |
probably benign |
Het |
| Bmal2 |
G |
A |
6: 146,720,369 (GRCm39) |
A178T |
not run |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| C3 |
C |
A |
17: 57,527,136 (GRCm39) |
W771L |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,844,357 (GRCm39) |
I926M |
|
Het |
| Cacna1b |
G |
A |
2: 24,506,874 (GRCm39) |
L1903F |
probably damaging |
Het |
| Car3 |
A |
T |
3: 14,928,632 (GRCm39) |
M1L |
probably benign |
Het |
| Ccdc175 |
A |
G |
12: 72,202,398 (GRCm39) |
I299T |
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,683,066 (GRCm39) |
T502I |
unknown |
Het |
| Clec4a1 |
G |
A |
6: 122,904,998 (GRCm39) |
C99Y |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,356,788 (GRCm39) |
G632R |
probably damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,681,241 (GRCm39) |
|
probably null |
Het |
| Dop1a |
A |
T |
9: 86,417,985 (GRCm39) |
K1951N |
probably damaging |
Het |
| Dpf3 |
A |
C |
12: 83,378,701 (GRCm39) |
L122R |
probably damaging |
Het |
| Edem3 |
A |
T |
1: 151,683,973 (GRCm39) |
S687C |
probably damaging |
Het |
| Edem3 |
G |
A |
1: 151,683,974 (GRCm39) |
S687N |
possibly damaging |
Het |
| Fig4 |
A |
G |
10: 41,106,001 (GRCm39) |
|
probably null |
Het |
| Fmnl2 |
A |
G |
2: 52,998,443 (GRCm39) |
T603A |
unknown |
Het |
| Frmd6 |
T |
A |
12: 70,933,829 (GRCm39) |
L249Q |
probably damaging |
Het |
| Glrx3 |
T |
C |
7: 137,046,751 (GRCm39) |
C48R |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gm6133 |
A |
T |
18: 78,393,008 (GRCm39) |
M1L |
probably benign |
Het |
| Gm9195 |
G |
A |
14: 72,720,116 (GRCm39) |
T105I |
probably benign |
Het |
| Hk2 |
G |
A |
6: 82,737,150 (GRCm39) |
T54I |
probably benign |
Het |
| Jade1 |
G |
A |
3: 41,559,125 (GRCm39) |
G402D |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,720,368 (GRCm39) |
D3873G |
unknown |
Het |
| Megf9 |
T |
C |
4: 70,351,679 (GRCm39) |
T481A |
probably damaging |
Het |
| Mtcl3 |
G |
T |
10: 29,072,519 (GRCm39) |
V604L |
probably damaging |
Het |
| Mtus1 |
T |
A |
8: 41,537,652 (GRCm39) |
K21N |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,414,908 (GRCm39) |
T2618I |
unknown |
Het |
| Nbas |
A |
G |
12: 13,406,960 (GRCm39) |
I852M |
probably damaging |
Het |
| Or14j1 |
T |
A |
17: 38,146,289 (GRCm39) |
M133K |
probably damaging |
Het |
| Or4a70 |
C |
T |
2: 89,324,636 (GRCm39) |
V7I |
probably benign |
Het |
| Or5b121 |
A |
T |
19: 13,507,817 (GRCm39) |
Q304L |
probably damaging |
Het |
| Or5d39 |
A |
G |
2: 87,980,105 (GRCm39) |
I86T |
probably benign |
Het |
| Pank4 |
A |
G |
4: 155,054,495 (GRCm39) |
N156S |
probably damaging |
Het |
| Pcdhga8 |
A |
G |
18: 37,860,990 (GRCm39) |
E682G |
probably benign |
Het |
| Pde10a |
C |
A |
17: 9,168,262 (GRCm39) |
D312E |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,376,307 (GRCm39) |
T990A |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,646,609 (GRCm39) |
T156A |
probably damaging |
Het |
| Rhbdd2 |
T |
A |
5: 135,665,031 (GRCm39) |
S121T |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,508,438 (GRCm39) |
R3418S |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,508,439 (GRCm39) |
R3418M |
possibly damaging |
Het |
| Sbno2 |
G |
A |
10: 79,893,333 (GRCm39) |
P1323S |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,144,412 (GRCm39) |
C630R |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Skp2 |
A |
T |
15: 9,113,905 (GRCm39) |
V371E |
probably damaging |
Het |
| Strbp |
A |
T |
2: 37,490,766 (GRCm39) |
S496R |
probably benign |
Het |
| Stxbp4 |
G |
A |
11: 90,485,639 (GRCm39) |
T236I |
possibly damaging |
Het |
| Terf2 |
C |
T |
8: 107,799,353 (GRCm39) |
|
probably null |
Het |
| Thnsl1 |
A |
T |
2: 21,216,599 (GRCm39) |
T118S |
probably benign |
Het |
| Tlnrd1 |
A |
T |
7: 83,531,546 (GRCm39) |
V295E |
probably damaging |
Het |
| Ttll6 |
A |
G |
11: 96,045,672 (GRCm39) |
T630A |
probably benign |
Het |
| Usp9y |
G |
T |
Y: 1,432,180 (GRCm39) |
A435E |
probably benign |
Het |
| Vil1 |
A |
C |
1: 74,459,058 (GRCm39) |
R187S |
probably damaging |
Het |
| Vmn2r31 |
A |
T |
7: 7,387,579 (GRCm39) |
V664E |
possibly damaging |
Het |
| Wdr17 |
T |
C |
8: 55,114,371 (GRCm39) |
I693M |
probably benign |
Het |
| Wdr82 |
C |
T |
9: 106,053,865 (GRCm39) |
T72I |
probably damaging |
Het |
| Zbtb5 |
A |
G |
4: 44,994,905 (GRCm39) |
S160P |
probably benign |
Het |
| Zfat |
G |
A |
15: 68,050,715 (GRCm39) |
Q769* |
probably null |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp937 |
T |
A |
2: 150,081,266 (GRCm39) |
I432K |
probably benign |
Het |
| Zglp1 |
C |
T |
9: 20,973,903 (GRCm39) |
S261N |
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 |
|
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'- TGCAGATCAGCGTGACACAC -3'
(R):5'- AGCTGCTTACTGTACTCGC -3'
Sequencing Primer
(F):5'- TGGTCCTGCAGCTGGAAAG -3'
(R):5'- GCCACCTCCTCCCGGATTTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation