Incidental Mutation 'IGL02281:Map9'
| ID |
289820 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Map9
|
| Ensembl Gene |
ENSMUSG00000033900 |
| Gene Name |
microtubule-associated protein 9 |
| Synonyms |
ASAP, 5330427D05Rik, 5033421J10Rik, Mtap9 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.374)
|
| Stock # |
IGL02281
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
82265379-82302575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 82298453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 613
(E613K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091014]
[ENSMUST00000195640]
|
| AlphaFold |
Q3TRR0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091014
AA Change: E613K
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000088535
Gene: ENSMUSG00000033900
AA Change: E613K
| 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 |
possibly damaging
Transcript: ENSMUST00000195640
AA Change: E613K
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142206
Gene: ENSMUSG00000033900
AA Change: E613K
| 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 |
|
| Coding Region Coverage |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrp |
T |
C |
8: 106,293,786 (GRCm39) |
E60G |
probably benign |
Het |
| Aldh3a1 |
T |
G |
11: 61,107,949 (GRCm39) |
|
probably null |
Het |
| Bach2 |
T |
C |
4: 32,562,513 (GRCm39) |
C327R |
possibly damaging |
Het |
| Bcam |
C |
T |
7: 19,492,616 (GRCm39) |
G523D |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,907,503 (GRCm39) |
D865E |
probably damaging |
Het |
| Calm1 |
A |
T |
12: 100,171,883 (GRCm39) |
I112F |
probably damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,895,656 (GRCm39) |
V542A |
probably benign |
Het |
| Clec5a |
A |
T |
6: 40,561,336 (GRCm39) |
D36E |
probably benign |
Het |
| Clspn |
T |
A |
4: 126,459,563 (GRCm39) |
C321S |
possibly damaging |
Het |
| Cmtr1 |
T |
A |
17: 29,910,255 (GRCm39) |
D453E |
probably benign |
Het |
| Cntnap1 |
T |
A |
11: 101,073,080 (GRCm39) |
D561E |
possibly damaging |
Het |
| Cul5 |
A |
G |
9: 53,546,349 (GRCm39) |
V137A |
possibly damaging |
Het |
| Cyp2b9 |
A |
G |
7: 25,900,529 (GRCm39) |
Y389C |
probably damaging |
Het |
| Ddi2 |
A |
G |
4: 141,419,730 (GRCm39) |
V340A |
probably benign |
Het |
| Etv4 |
T |
C |
11: 101,664,545 (GRCm39) |
Y235C |
probably damaging |
Het |
| Gm3099 |
G |
A |
14: 15,347,225 (GRCm39) |
|
probably benign |
Het |
| Gpsm1 |
T |
A |
2: 26,229,638 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
A |
G |
7: 79,745,550 (GRCm39) |
|
probably null |
Het |
| Kit |
G |
A |
5: 75,815,194 (GRCm39) |
E973K |
possibly damaging |
Het |
| Lilra5 |
A |
G |
7: 4,241,782 (GRCm39) |
I194V |
probably benign |
Het |
| Lrp6 |
A |
C |
6: 134,434,697 (GRCm39) |
N1335K |
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,981,745 (GRCm39) |
A1519T |
probably benign |
Het |
| Nefm |
A |
G |
14: 68,361,913 (GRCm39) |
V117A |
probably damaging |
Het |
| Nr2c2 |
T |
A |
6: 92,131,495 (GRCm39) |
S186T |
probably benign |
Het |
| Pde2a |
G |
A |
7: 101,130,599 (GRCm39) |
A80T |
probably benign |
Het |
| Plcd1 |
A |
T |
9: 118,903,841 (GRCm39) |
C334S |
probably benign |
Het |
| Pomt1 |
T |
C |
2: 32,138,658 (GRCm39) |
S425P |
possibly damaging |
Het |
| Pspc1 |
G |
T |
14: 56,960,635 (GRCm39) |
P497T |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,948,651 (GRCm39) |
P58L |
probably benign |
Het |
| Rph3a |
T |
C |
5: 121,086,896 (GRCm39) |
T435A |
probably damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,869,777 (GRCm39) |
L746P |
probably damaging |
Het |
| Sfrp2 |
A |
G |
3: 83,680,446 (GRCm39) |
E202G |
possibly damaging |
Het |
| Slc25a38 |
T |
C |
9: 119,946,598 (GRCm39) |
S111P |
probably damaging |
Het |
| Tfcp2l1 |
T |
C |
1: 118,597,110 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
A |
T |
15: 76,518,274 (GRCm39) |
L566H |
probably damaging |
Het |
| Tsc1 |
C |
A |
2: 28,553,607 (GRCm39) |
D153E |
probably damaging |
Het |
| Vmn2r37 |
A |
T |
7: 9,220,881 (GRCm39) |
H327Q |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation