Incidental Mutation 'R7691:Map6'
| ID |
593394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map6
|
| Ensembl Gene |
ENSMUSG00000055407 |
| Gene Name |
microtubule-associated protein 6 |
| Synonyms |
Mtap6, 2810411E12Rik, F-STOP, STOP |
| MMRRC Submission |
045755-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R7691 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
98916654-98986344 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 98985499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 671
(L671F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068973]
[ENSMUST00000107100]
[ENSMUST00000122101]
[ENSMUST00000207883]
[ENSMUST00000208605]
[ENSMUST00000208924]
|
| AlphaFold |
Q7TSJ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068973
AA Change: L671F
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000064787
Gene: ENSMUSG00000055407
AA Change: L671F
| 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 |
possibly damaging
Transcript: ENSMUST00000207883
AA Change: L671F
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208605
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208924
AA Change: L468F
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
A |
T |
6: 92,773,219 (GRCm39) |
C1763S |
probably damaging |
Het |
| Adcy3 |
T |
C |
12: 4,256,540 (GRCm39) |
V782A |
probably benign |
Het |
| Arhgef17 |
G |
A |
7: 100,578,849 (GRCm39) |
R700C |
probably damaging |
Het |
| Atxn2l |
T |
C |
7: 126,091,782 (GRCm39) |
|
probably null |
Het |
| Bach2 |
A |
G |
4: 32,580,271 (GRCm39) |
E832G |
probably damaging |
Het |
| Brpf3 |
G |
C |
17: 29,025,805 (GRCm39) |
A293P |
probably damaging |
Het |
| Cacfd1 |
T |
C |
2: 26,900,106 (GRCm39) |
L36P |
probably damaging |
Het |
| Camsap2 |
T |
C |
1: 136,220,742 (GRCm39) |
E268G |
probably damaging |
Het |
| Ccnjl |
A |
T |
11: 43,474,028 (GRCm39) |
Q201L |
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,560,048 (GRCm39) |
V372A |
probably damaging |
Het |
| Cenpf |
C |
A |
1: 189,390,404 (GRCm39) |
E1143* |
probably null |
Het |
| Colgalt1 |
A |
T |
8: 72,073,398 (GRCm39) |
M340L |
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,376,497 (GRCm39) |
Y1586H |
not run |
Het |
| Csmd3 |
A |
G |
15: 47,604,569 (GRCm39) |
I1058T |
|
Het |
| Dock1 |
G |
A |
7: 134,739,886 (GRCm39) |
|
probably null |
Het |
| Dzank1 |
G |
A |
2: 144,348,091 (GRCm39) |
T225I |
probably damaging |
Het |
| Eif3c |
G |
A |
7: 126,151,162 (GRCm39) |
R721W |
possibly damaging |
Het |
| Fdps |
A |
G |
3: 89,006,674 (GRCm39) |
V72A |
probably benign |
Het |
| Filip1l |
A |
G |
16: 57,392,796 (GRCm39) |
N1128S |
probably benign |
Het |
| Fmnl2 |
T |
A |
2: 52,991,510 (GRCm39) |
Y342N |
unknown |
Het |
| Gria1 |
A |
T |
11: 57,127,813 (GRCm39) |
I410F |
possibly damaging |
Het |
| Gsdmc4 |
C |
A |
15: 63,765,640 (GRCm39) |
S303I |
probably damaging |
Het |
| Herc2 |
C |
T |
7: 55,841,593 (GRCm39) |
P3491S |
probably benign |
Het |
| Ift25 |
A |
G |
4: 107,130,886 (GRCm39) |
I59V |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,084,389 (GRCm39) |
H927R |
possibly damaging |
Het |
| Lrrc8e |
T |
C |
8: 4,284,534 (GRCm39) |
M253T |
probably damaging |
Het |
| Ltn1 |
G |
T |
16: 87,195,574 (GRCm39) |
H1317Q |
probably damaging |
Het |
| Mki67 |
C |
T |
7: 135,303,721 (GRCm39) |
V716I |
not run |
Het |
| Mllt10 |
A |
G |
2: 18,208,422 (GRCm39) |
S694G |
possibly damaging |
Het |
| Mllt10 |
G |
C |
2: 18,208,423 (GRCm39) |
S694T |
probably null |
Het |
| Mtcl1 |
A |
G |
17: 66,687,352 (GRCm39) |
L518S |
probably damaging |
Het |
| Or2ad1 |
G |
A |
13: 21,327,140 (GRCm39) |
A29V |
probably benign |
Het |
| Pcdh10 |
G |
T |
3: 45,335,632 (GRCm39) |
D649Y |
probably damaging |
Het |
| Pdgfrb |
C |
T |
18: 61,194,340 (GRCm39) |
T39M |
probably benign |
Het |
| Pls1 |
T |
C |
9: 95,655,726 (GRCm39) |
E342G |
probably benign |
Het |
| Pon1 |
C |
T |
6: 5,175,819 (GRCm39) |
V235I |
probably benign |
Het |
| Rhobtb3 |
A |
T |
13: 76,027,056 (GRCm39) |
V439E |
probably damaging |
Het |
| Septin8 |
A |
G |
11: 53,428,414 (GRCm39) |
T355A |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Ssc5d |
C |
T |
7: 4,947,168 (GRCm39) |
T1174I |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,461,163 (GRCm39) |
T3535S |
probably benign |
Het |
| Stk39 |
A |
G |
2: 68,301,983 (GRCm39) |
V80A |
probably damaging |
Het |
| Sult2b1 |
T |
C |
7: 45,384,708 (GRCm39) |
I123V |
probably benign |
Het |
| Sv2a |
A |
T |
3: 96,095,727 (GRCm39) |
I348F |
probably benign |
Het |
| Taar8b |
T |
A |
10: 23,967,436 (GRCm39) |
R253* |
probably null |
Het |
| Tbc1d4 |
T |
C |
14: 101,745,077 (GRCm39) |
K183R |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,192,610 (GRCm39) |
D608V |
probably damaging |
Het |
| Tnfsf14 |
T |
A |
17: 57,501,024 (GRCm39) |
T16S |
possibly damaging |
Het |
| Togaram2 |
A |
G |
17: 72,023,405 (GRCm39) |
T774A |
probably benign |
Het |
| Tshr |
C |
A |
12: 91,464,515 (GRCm39) |
A87E |
probably benign |
Het |
| Tsn |
T |
C |
1: 118,237,505 (GRCm39) |
D53G |
probably benign |
Het |
| Usp37 |
TC |
T |
1: 74,525,919 (GRCm39) |
|
probably null |
Het |
| Vav2 |
T |
A |
2: 27,187,750 (GRCm39) |
|
probably null |
Het |
| Vmn2r52 |
T |
A |
7: 9,893,109 (GRCm39) |
I677F |
probably damaging |
Het |
| Vmn2r65 |
T |
A |
7: 84,592,851 (GRCm39) |
Y452F |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,687,111 (GRCm39) |
R831G |
probably damaging |
Het |
| Zfp821 |
T |
C |
8: 110,447,871 (GRCm39) |
S71P |
probably damaging |
Het |
| Zwilch |
T |
A |
9: 64,063,373 (GRCm39) |
I286F |
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 |
|
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'- GCCAGGACTGCCAAAAGATC -3'
(R):5'- TCTTCAAAGAGGCCATGATGG -3'
Sequencing Primer
(F):5'- AGATCAAGTTCCTGTAGTCCCAG -3'
(R):5'- GGAGACATGCTGGTCCTTCCTAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation