Incidental Mutation 'R8395:Map9'
| ID |
647556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map9
|
| Ensembl Gene |
ENSMUSG00000033900 |
| Gene Name |
microtubule-associated protein 9 |
| Synonyms |
ASAP, 5330427D05Rik, 5033421J10Rik, Mtap9 |
| MMRRC Submission |
067759-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.374)
|
| Stock # |
R8395 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
82265379-82302575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82289276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 455
(I455V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091014]
[ENSMUST00000192595]
[ENSMUST00000193559]
[ENSMUST00000195471]
[ENSMUST00000195640]
[ENSMUST00000195793]
|
| AlphaFold |
Q3TRR0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091014
AA Change: I455V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000088535
Gene: ENSMUSG00000033900
AA Change: I455V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
Pfam:DUF4207
|
340 |
566 |
3.6e-10 |
PFAM |
|
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192595
|
| SMART Domains |
Protein: ENSMUSP00000141828
Gene: ENSMUSG00000033900
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193559
AA Change: I455V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000142014
Gene: ENSMUSG00000033900
AA Change: I455V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
365 |
N/A |
INTRINSIC |
|
coiled coil region
|
476 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
537 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195471
AA Change: I455V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000141282
Gene: ENSMUSG00000033900
AA Change: I455V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
365 |
N/A |
INTRINSIC |
|
coiled coil region
|
476 |
513 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195640
AA Change: I455V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000142206
Gene: ENSMUSG00000033900
AA Change: I455V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
Pfam:DUF4207
|
332 |
562 |
4.4e-11 |
PFAM |
|
low complexity region
|
564 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195793
|
| SMART Domains |
Protein: ENSMUSP00000141231
Gene: ENSMUSG00000033900
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
90 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ASAP is a microtubule-associated protein required for spindle function, mitotic progression, and cytokinesis (Saffin et al., 2005 [PubMed 16049101]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,218,280 (GRCm39) |
E352G |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,525,400 (GRCm39) |
F532L |
possibly damaging |
Het |
| Bckdk |
G |
A |
7: 127,507,139 (GRCm39) |
V328I |
probably benign |
Het |
| Cenpu |
T |
C |
8: 47,007,084 (GRCm39) |
Y26H |
probably benign |
Het |
| Clk3 |
A |
T |
9: 57,672,445 (GRCm39) |
V119E |
probably benign |
Het |
| Cnn2 |
A |
G |
10: 79,828,293 (GRCm39) |
N90S |
probably benign |
Het |
| Dlk2 |
T |
C |
17: 46,611,969 (GRCm39) |
I78T |
probably damaging |
Het |
| Ercc8 |
G |
T |
13: 108,323,788 (GRCm39) |
E367* |
probably null |
Het |
| Gbp9 |
A |
T |
5: 105,228,069 (GRCm39) |
I571K |
probably damaging |
Het |
| Gm3404 |
T |
C |
5: 146,462,724 (GRCm39) |
I29T |
possibly damaging |
Het |
| Gpat4 |
GTGTT |
GT |
8: 23,669,498 (GRCm39) |
|
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,962,961 (GRCm39) |
S74P |
|
Het |
| Htr6 |
T |
G |
4: 138,789,078 (GRCm39) |
M326L |
possibly damaging |
Het |
| Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
| Ippk |
A |
G |
13: 49,615,096 (GRCm39) |
E493G |
probably damaging |
Het |
| Kiz |
A |
G |
2: 146,794,949 (GRCm39) |
N603S |
possibly damaging |
Het |
| Limch1 |
A |
T |
5: 67,126,394 (GRCm39) |
K7N |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,547,411 (GRCm39) |
C4257Y |
|
Het |
| Map4k5 |
C |
G |
12: 69,877,203 (GRCm39) |
R381T |
probably null |
Het |
| Mpped1 |
T |
C |
15: 83,684,257 (GRCm39) |
V93A |
probably damaging |
Het |
| Myh10 |
T |
C |
11: 68,682,842 (GRCm39) |
L1129P |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,065,645 (GRCm39) |
M6196L |
probably benign |
Het |
| Neb |
C |
A |
2: 52,147,806 (GRCm39) |
V2738F |
probably damaging |
Het |
| Or10ad1 |
A |
G |
15: 98,105,500 (GRCm39) |
V255A |
probably benign |
Het |
| Or8k18 |
G |
A |
2: 86,085,878 (GRCm39) |
S53F |
possibly damaging |
Het |
| Sgf29 |
T |
A |
7: 126,271,837 (GRCm39) |
C287* |
probably null |
Het |
| Siglece |
A |
G |
7: 43,305,523 (GRCm39) |
V398A |
probably benign |
Het |
| Slc43a1 |
T |
C |
2: 84,671,266 (GRCm39) |
L67P |
probably damaging |
Het |
| Slco2a1 |
A |
G |
9: 102,954,239 (GRCm39) |
H470R |
probably benign |
Het |
| Spata31d1e |
A |
G |
13: 59,889,540 (GRCm39) |
V760A |
probably benign |
Het |
| Syngr1 |
T |
C |
15: 79,997,445 (GRCm39) |
S188P |
probably benign |
Het |
| Trpm4 |
T |
C |
7: 44,958,634 (GRCm39) |
D885G |
probably benign |
Het |
| Ubd |
A |
T |
17: 37,506,249 (GRCm39) |
Q45L |
probably damaging |
Het |
| Unc45a |
A |
T |
7: 79,976,080 (GRCm39) |
C800S |
probably benign |
Het |
| Vmn2r112 |
A |
G |
17: 22,837,587 (GRCm39) |
T683A |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,799,982 (GRCm39) |
T787S |
possibly damaging |
Het |
| Vmn2r85 |
G |
A |
10: 130,261,797 (GRCm39) |
P180L |
probably damaging |
Het |
| Vtcn1 |
T |
C |
3: 100,791,070 (GRCm39) |
F36S |
probably benign |
Het |
| Wdr86 |
A |
G |
5: 24,935,187 (GRCm39) |
L52P |
probably damaging |
Het |
| Xpo4 |
A |
T |
14: 57,885,924 (GRCm39) |
S43T |
probably benign |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
|
| Other mutations in Map9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00742:Map9
|
APN |
3 |
82,270,727 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01520:Map9
|
APN |
3 |
82,286,272 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02281:Map9
|
APN |
3 |
82,298,453 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02931:Map9
|
APN |
3 |
82,284,428 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02937:Map9
|
APN |
3 |
82,270,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02985:Map9
|
APN |
3 |
82,267,209 (GRCm39) |
nonsense |
probably null |
|
|
IGL03113:Map9
|
APN |
3 |
82,267,285 (GRCm39) |
splice site |
probably benign |
|
|
R0134:Map9
|
UTSW |
3 |
82,267,290 (GRCm39) |
splice site |
probably benign |
|
|
R0225:Map9
|
UTSW |
3 |
82,267,290 (GRCm39) |
splice site |
probably benign |
|
|
R0468:Map9
|
UTSW |
3 |
82,281,510 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1027:Map9
|
UTSW |
3 |
82,284,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1794:Map9
|
UTSW |
3 |
82,287,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4008:Map9
|
UTSW |
3 |
82,266,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5728:Map9
|
UTSW |
3 |
82,270,642 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5905:Map9
|
UTSW |
3 |
82,287,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6028:Map9
|
UTSW |
3 |
82,287,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6334:Map9
|
UTSW |
3 |
82,290,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6798:Map9
|
UTSW |
3 |
82,287,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7135:Map9
|
UTSW |
3 |
82,270,765 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7443:Map9
|
UTSW |
3 |
82,278,663 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7694:Map9
|
UTSW |
3 |
82,266,290 (GRCm39) |
start gained |
probably benign |
|
|
R8224:Map9
|
UTSW |
3 |
82,266,370 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8237:Map9
|
UTSW |
3 |
82,284,467 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8504:Map9
|
UTSW |
3 |
82,284,476 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8696:Map9
|
UTSW |
3 |
82,270,668 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8818:Map9
|
UTSW |
3 |
82,291,270 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8957:Map9
|
UTSW |
3 |
82,278,687 (GRCm39) |
missense |
probably benign |
|
|
R9044:Map9
|
UTSW |
3 |
82,287,525 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9266:Map9
|
UTSW |
3 |
82,278,594 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9695:Map9
|
UTSW |
3 |
82,284,292 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTGGTGGTTTCTTTCAACAA -3'
(R):5'- GCCCTGCTGCTTATAGCTCATG -3'
Sequencing Primer
(F):5'- CAAGGTCATTTGGACACCTT -3'
(R):5'- CTGCTTATAGCTCATGCGCATAAAAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation