Incidental Mutation 'R0468:Map9'
ID |
41731 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map9
|
Ensembl Gene |
ENSMUSG00000033900 |
Gene Name |
microtubule-associated protein 9 |
Synonyms |
ASAP, 5330427D05Rik, 5033421J10Rik, Mtap9 |
MMRRC Submission |
038668-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.374)
|
Stock # |
R0468 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
82265379-82302575 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 82281510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142206
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091014]
[ENSMUST00000091014]
[ENSMUST00000192595]
[ENSMUST00000192595]
[ENSMUST00000193559]
[ENSMUST00000193559]
[ENSMUST00000195471]
[ENSMUST00000195471]
[ENSMUST00000195640]
[ENSMUST00000195640]
|
AlphaFold |
Q3TRR0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000091014
|
SMART Domains |
Protein: ENSMUSP00000088535 Gene: ENSMUSG00000033900
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 null
Transcript: ENSMUST00000091014
|
SMART Domains |
Protein: ENSMUSP00000088535 Gene: ENSMUSG00000033900
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 null
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 null
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 null
Transcript: ENSMUST00000193559
|
SMART Domains |
Protein: ENSMUSP00000142014 Gene: ENSMUSG00000033900
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 null
Transcript: ENSMUST00000193559
|
SMART Domains |
Protein: ENSMUSP00000142014 Gene: ENSMUSG00000033900
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 null
Transcript: ENSMUST00000195471
|
SMART Domains |
Protein: ENSMUSP00000141282 Gene: ENSMUSG00000033900
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 null
Transcript: ENSMUST00000195471
|
SMART Domains |
Protein: ENSMUSP00000141282 Gene: ENSMUSG00000033900
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 null
Transcript: ENSMUST00000195640
|
SMART Domains |
Protein: ENSMUSP00000142206 Gene: ENSMUSG00000033900
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 null
Transcript: ENSMUST00000195640
|
SMART Domains |
Protein: ENSMUSP00000142206 Gene: ENSMUSG00000033900
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 |
|
Meta Mutation Damage Score |
0.9487 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
Validation Efficiency |
100% (61/61) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
G |
12: 71,240,084 (GRCm39) |
H1298R |
possibly damaging |
Het |
5530400C23Rik |
T |
C |
6: 133,271,421 (GRCm39) |
L155P |
probably benign |
Het |
6820408C15Rik |
A |
T |
2: 152,283,186 (GRCm39) |
R283S |
probably benign |
Het |
Aldh1l2 |
T |
A |
10: 83,354,542 (GRCm39) |
E104D |
probably benign |
Het |
Anxa3 |
T |
C |
5: 96,958,958 (GRCm39) |
V22A |
probably benign |
Het |
Bcl7b |
T |
C |
5: 135,209,737 (GRCm39) |
F188L |
probably benign |
Het |
Brinp1 |
T |
A |
4: 68,681,013 (GRCm39) |
I506F |
probably damaging |
Het |
Bsdc1 |
T |
C |
4: 129,355,511 (GRCm39) |
|
probably benign |
Het |
Ccdc180 |
T |
C |
4: 45,923,271 (GRCm39) |
I1075T |
possibly damaging |
Het |
Cep162 |
A |
G |
9: 87,075,750 (GRCm39) |
L1294P |
probably damaging |
Het |
Cltc |
G |
A |
11: 86,595,452 (GRCm39) |
|
probably benign |
Het |
Col11a1 |
T |
C |
3: 114,010,707 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
A |
T |
15: 55,252,042 (GRCm39) |
Y566F |
unknown |
Het |
Dhx29 |
A |
G |
13: 113,099,811 (GRCm39) |
Q1148R |
probably benign |
Het |
Ehbp1 |
A |
G |
11: 22,119,184 (GRCm39) |
|
probably benign |
Het |
Ehd3 |
A |
G |
17: 74,112,374 (GRCm39) |
H46R |
probably damaging |
Het |
Fam171a1 |
T |
C |
2: 3,226,433 (GRCm39) |
V522A |
probably benign |
Het |
Gm4553 |
C |
A |
7: 141,719,362 (GRCm39) |
C22F |
unknown |
Het |
Hibadh |
C |
T |
6: 52,534,755 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
G |
A |
4: 137,260,840 (GRCm39) |
C1613Y |
probably damaging |
Het |
Hydin |
G |
T |
8: 111,139,855 (GRCm39) |
C708F |
possibly damaging |
Het |
Ifi208 |
A |
T |
1: 173,511,047 (GRCm39) |
M401L |
probably benign |
Het |
Igsf8 |
G |
A |
1: 172,146,363 (GRCm39) |
V454M |
probably damaging |
Het |
Irx4 |
G |
T |
13: 73,414,839 (GRCm39) |
|
probably benign |
Het |
Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
Kcnn2 |
C |
T |
18: 45,692,538 (GRCm39) |
T38M |
possibly damaging |
Het |
L3mbtl3 |
C |
T |
10: 26,203,630 (GRCm39) |
R400H |
unknown |
Het |
Lrp6 |
T |
C |
6: 134,462,624 (GRCm39) |
T679A |
possibly damaging |
Het |
Men1 |
T |
A |
19: 6,386,953 (GRCm39) |
V5E |
probably null |
Het |
Mettl14 |
T |
C |
3: 123,165,061 (GRCm39) |
D93G |
probably damaging |
Het |
Neb |
G |
T |
2: 52,101,568 (GRCm39) |
R4601S |
probably damaging |
Het |
Nell1 |
A |
G |
7: 49,878,594 (GRCm39) |
T272A |
probably damaging |
Het |
Or10ag53 |
A |
T |
2: 87,082,599 (GRCm39) |
N106I |
probably benign |
Het |
Or2ak6 |
A |
T |
11: 58,592,619 (GRCm39) |
I31F |
probably damaging |
Het |
Pclo |
C |
A |
5: 14,727,302 (GRCm39) |
|
probably benign |
Het |
Pdia5 |
A |
G |
16: 35,217,877 (GRCm39) |
L502P |
probably damaging |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Plxna4 |
C |
A |
6: 32,192,181 (GRCm39) |
C803F |
probably damaging |
Het |
Pmfbp1 |
A |
G |
8: 110,240,600 (GRCm39) |
|
probably null |
Het |
Ptgs1 |
A |
G |
2: 36,139,205 (GRCm39) |
Y468C |
probably damaging |
Het |
Pxdn |
G |
T |
12: 30,044,485 (GRCm39) |
G488W |
probably damaging |
Het |
Safb |
C |
T |
17: 56,913,025 (GRCm39) |
R914C |
probably damaging |
Het |
Sec31b |
T |
A |
19: 44,506,947 (GRCm39) |
|
probably benign |
Het |
Shank3 |
G |
A |
15: 89,433,478 (GRCm39) |
V1333I |
probably benign |
Het |
Slamf1 |
A |
G |
1: 171,619,939 (GRCm39) |
|
probably benign |
Het |
Slc23a3 |
T |
A |
1: 75,109,874 (GRCm39) |
Q131L |
possibly damaging |
Het |
Slc7a11 |
A |
G |
3: 50,338,500 (GRCm39) |
V303A |
probably damaging |
Het |
Slc7a13 |
T |
A |
4: 19,841,500 (GRCm39) |
V449D |
probably benign |
Het |
Srp68 |
A |
T |
11: 116,139,590 (GRCm39) |
I453K |
probably damaging |
Het |
Steap3 |
A |
T |
1: 120,162,030 (GRCm39) |
V414D |
probably damaging |
Het |
Tagln2 |
A |
G |
1: 172,333,788 (GRCm39) |
N131D |
probably benign |
Het |
Tmem132d |
T |
C |
5: 128,346,267 (GRCm39) |
Y85C |
probably damaging |
Het |
Vcam1 |
A |
T |
3: 115,909,595 (GRCm39) |
Y577* |
probably null |
Het |
Vmn1r214 |
A |
G |
13: 23,219,423 (GRCm39) |
T306A |
probably benign |
Het |
Zfyve1 |
A |
T |
12: 83,602,048 (GRCm39) |
|
probably benign |
Het |
Zgrf1 |
T |
A |
3: 127,355,690 (GRCm39) |
N305K |
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 |
|
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 |
R8395:Map9
|
UTSW |
3 |
82,289,276 (GRCm39) |
missense |
probably benign |
0.06 |
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'- GTGTTTCCTTCCTGAGACTTTGGCA -3'
(R):5'- ATCTCCCCAGTTCTCCTTGAGAGTATG -3'
Sequencing Primer
(F):5'- tggaagagcaggaagcac -3'
(R):5'- agagccttttgagacaggac -3'
|
Posted On |
2013-05-23 |