Incidental Mutation 'IGL02985:Map9'
| ID |
406675 |
| 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 # |
IGL02985
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
82265379-82302575 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 82267209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 30
(R30*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091014]
[ENSMUST00000192595]
[ENSMUST00000193559]
[ENSMUST00000195471]
[ENSMUST00000195640]
|
| AlphaFold |
Q3TRR0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000091014
AA Change: R30*
|
| SMART Domains |
Protein: ENSMUSP00000088535
Gene: ENSMUSG00000033900
AA Change: R30*
| 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
AA Change: R30*
|
| SMART Domains |
Protein: ENSMUSP00000141828
Gene: ENSMUSG00000033900
AA Change: R30*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000193559
AA Change: R30*
|
| SMART Domains |
Protein: ENSMUSP00000142014
Gene: ENSMUSG00000033900
AA Change: R30*
| 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
AA Change: R30*
|
| SMART Domains |
Protein: ENSMUSP00000141282
Gene: ENSMUSG00000033900
AA Change: R30*
| 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
AA Change: R30*
|
| SMART Domains |
Protein: ENSMUSP00000142206
Gene: ENSMUSG00000033900
AA Change: R30*
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
T |
C |
2: 113,878,641 (GRCm39) |
E318G |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,947,185 (GRCm39) |
V2968A |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,012,906 (GRCm39) |
L1862S |
probably damaging |
Het |
| Cfap91 |
T |
A |
16: 38,118,634 (GRCm39) |
I722F |
probably damaging |
Het |
| Csgalnact1 |
A |
G |
8: 68,913,695 (GRCm39) |
V170A |
probably benign |
Het |
| Dnaaf10 |
G |
A |
11: 17,179,845 (GRCm39) |
G282E |
probably damaging |
Het |
| Dph1 |
A |
G |
11: 75,074,419 (GRCm39) |
V131A |
possibly damaging |
Het |
| Galr1 |
A |
T |
18: 82,411,855 (GRCm39) |
M337K |
probably benign |
Het |
| Gm14214 |
G |
T |
2: 154,611,374 (GRCm39) |
T160N |
probably benign |
Het |
| Gpatch8 |
G |
T |
11: 102,372,336 (GRCm39) |
H401N |
unknown |
Het |
| Higd1a |
A |
G |
9: 121,681,596 (GRCm39) |
F20L |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,547,668 (GRCm39) |
I2761K |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,235,114 (GRCm39) |
Y83N |
probably damaging |
Het |
| Ilvbl |
C |
T |
10: 78,414,901 (GRCm39) |
P255S |
probably benign |
Het |
| Kpna2 |
T |
C |
11: 106,880,163 (GRCm39) |
Y495C |
probably benign |
Het |
| Krt36 |
G |
T |
11: 99,994,005 (GRCm39) |
Q327K |
probably benign |
Het |
| Lrrc34 |
T |
C |
3: 30,690,444 (GRCm39) |
M153V |
probably benign |
Het |
| Mcf2l |
A |
G |
8: 13,013,239 (GRCm39) |
Y48C |
probably damaging |
Het |
| Mfsd13b |
T |
A |
7: 120,599,395 (GRCm39) |
I397K |
probably damaging |
Het |
| Mpp7 |
C |
A |
18: 7,461,637 (GRCm39) |
|
probably null |
Het |
| Mrgprx2 |
C |
T |
7: 48,132,245 (GRCm39) |
C191Y |
probably damaging |
Het |
| Or4c58 |
A |
T |
2: 89,674,684 (GRCm39) |
I211N |
possibly damaging |
Het |
| Pabpc4l |
A |
G |
3: 46,401,017 (GRCm39) |
V209A |
possibly damaging |
Het |
| Pde7a |
T |
A |
3: 19,365,047 (GRCm39) |
H40L |
probably damaging |
Het |
| Phactr3 |
T |
C |
2: 177,817,250 (GRCm39) |
V22A |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,994,842 (GRCm39) |
E1104* |
probably null |
Het |
| Ppp2cb |
A |
G |
8: 34,105,474 (GRCm39) |
|
probably benign |
Het |
| Prl3c1 |
A |
T |
13: 27,383,370 (GRCm39) |
Y12F |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 16,993,723 (GRCm39) |
|
probably null |
Het |
| Rfesd |
T |
C |
13: 76,156,331 (GRCm39) |
D25G |
probably damaging |
Het |
| Rxfp1 |
C |
A |
3: 79,559,533 (GRCm39) |
M429I |
possibly damaging |
Het |
| Tmf1 |
A |
G |
6: 97,153,770 (GRCm39) |
L101P |
probably damaging |
Het |
| Ube2d2b |
T |
C |
5: 107,978,663 (GRCm39) |
S105P |
probably damaging |
Het |
| Zfp518a |
C |
T |
19: 40,902,111 (GRCm39) |
T680I |
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 |
|
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 |
2016-08-02 |
Incidental Mutation