Incidental Mutation 'IGL02937:Map9'
| ID |
364368 |
| 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: 0.300)
|
| Stock # |
IGL02937
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
82265379-82302575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82270819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 128
(S128T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091014]
[ENSMUST00000192595]
[ENSMUST00000193559]
[ENSMUST00000195471]
[ENSMUST00000195640]
|
| AlphaFold |
Q3TRR0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091014
AA Change: S128T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000088535
Gene: ENSMUSG00000033900
AA Change: S128T
| 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: ENSMUST00000192595
AA Change: S128T
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141828
Gene: ENSMUSG00000033900
AA Change: S128T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193559
AA Change: S128T
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142014
Gene: ENSMUSG00000033900
AA Change: S128T
| 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 |
possibly damaging
Transcript: ENSMUST00000195471
AA Change: S128T
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141282
Gene: ENSMUSG00000033900
AA Change: S128T
| 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: S128T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000142206
Gene: ENSMUSG00000033900
AA Change: S128T
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
C |
T |
9: 15,206,049 (GRCm39) |
C21Y |
probably damaging |
Het |
| 4933427D06Rik |
T |
C |
6: 89,085,127 (GRCm39) |
|
noncoding transcript |
Het |
| 5730480H06Rik |
A |
G |
5: 48,536,783 (GRCm39) |
I160V |
probably benign |
Het |
| Arhgap29 |
G |
A |
3: 121,767,698 (GRCm39) |
E47K |
probably damaging |
Het |
| Arhgef12 |
T |
A |
9: 42,927,216 (GRCm39) |
S303C |
probably damaging |
Het |
| Bap1 |
A |
G |
14: 30,980,284 (GRCm39) |
N644S |
probably benign |
Het |
| Cc2d1b |
A |
G |
4: 108,489,091 (GRCm39) |
E796G |
probably damaging |
Het |
| Cfh |
C |
A |
1: 140,033,180 (GRCm39) |
R788L |
probably benign |
Het |
| Cldn1 |
A |
G |
16: 26,179,623 (GRCm39) |
F148S |
probably damaging |
Het |
| Cryzl1 |
A |
G |
16: 91,487,619 (GRCm39) |
M292T |
possibly damaging |
Het |
| Cyp11b1 |
T |
C |
15: 74,708,408 (GRCm39) |
R385G |
possibly damaging |
Het |
| Cyp4f37 |
T |
C |
17: 32,844,163 (GRCm39) |
L89P |
probably benign |
Het |
| Dach1 |
A |
G |
14: 98,153,231 (GRCm39) |
|
probably null |
Het |
| Dhtkd1 |
A |
G |
2: 5,922,716 (GRCm39) |
I481T |
possibly damaging |
Het |
| Dlx5 |
A |
T |
6: 6,881,755 (GRCm39) |
D44E |
probably damaging |
Het |
| Dsg1a |
T |
A |
18: 20,464,591 (GRCm39) |
I362N |
possibly damaging |
Het |
| Ecm2 |
T |
A |
13: 49,671,952 (GRCm39) |
I151N |
probably damaging |
Het |
| Far1 |
T |
A |
7: 113,139,855 (GRCm39) |
I101N |
probably damaging |
Het |
| Gm21985 |
T |
C |
2: 112,172,207 (GRCm39) |
S384P |
probably benign |
Het |
| Gnb5 |
T |
C |
9: 75,247,471 (GRCm39) |
Y247H |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,736,572 (GRCm39) |
K1940E |
probably damaging |
Het |
| Gprc5b |
A |
G |
7: 118,583,017 (GRCm39) |
V284A |
probably benign |
Het |
| Idh2 |
T |
C |
7: 79,748,661 (GRCm39) |
Y179C |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 34,040,500 (GRCm39) |
Q737* |
probably null |
Het |
| Kcnj13 |
T |
C |
1: 87,314,175 (GRCm39) |
D349G |
probably damaging |
Het |
| Lgsn |
A |
T |
1: 31,243,318 (GRCm39) |
T467S |
possibly damaging |
Het |
| Mroh5 |
A |
G |
15: 73,661,827 (GRCm39) |
C455R |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,887,186 (GRCm39) |
H1771R |
probably benign |
Het |
| Nkain2 |
T |
C |
10: 32,205,840 (GRCm39) |
Y65C |
probably damaging |
Het |
| Or51a43 |
T |
A |
7: 103,718,056 (GRCm39) |
M61L |
probably damaging |
Het |
| Or51b6b |
A |
T |
7: 103,310,112 (GRCm39) |
V115D |
probably damaging |
Het |
| Or6aa1 |
T |
C |
7: 86,043,798 (GRCm39) |
K303E |
possibly damaging |
Het |
| Pabpc4l |
A |
C |
3: 46,400,725 (GRCm39) |
D306E |
probably benign |
Het |
| Parp12 |
A |
T |
6: 39,079,515 (GRCm39) |
Y332N |
probably damaging |
Het |
| Parvb |
A |
T |
15: 84,193,154 (GRCm39) |
K316M |
probably damaging |
Het |
| Pde8a |
T |
A |
7: 80,945,519 (GRCm39) |
|
probably benign |
Het |
| Polq |
A |
G |
16: 36,833,471 (GRCm39) |
T55A |
probably benign |
Het |
| Ppp2r5b |
T |
A |
19: 6,281,016 (GRCm39) |
K271M |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,334,936 (GRCm39) |
|
probably null |
Het |
| Rigi |
C |
T |
4: 40,229,661 (GRCm39) |
C86Y |
probably benign |
Het |
| Skap2 |
T |
C |
6: 51,886,351 (GRCm39) |
N175D |
probably benign |
Het |
| Slc44a3 |
A |
G |
3: 121,303,970 (GRCm39) |
|
probably benign |
Het |
| Smurf2 |
G |
A |
11: 106,736,873 (GRCm39) |
H318Y |
probably damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,004,778 (GRCm39) |
T460A |
possibly damaging |
Het |
| Tcerg1 |
T |
C |
18: 42,657,414 (GRCm39) |
S299P |
unknown |
Het |
| Tll1 |
A |
C |
8: 64,658,319 (GRCm39) |
Y33* |
probably null |
Het |
| Tmem59 |
A |
T |
4: 107,054,782 (GRCm39) |
T196S |
probably damaging |
Het |
| Ttll4 |
C |
A |
1: 74,718,662 (GRCm39) |
A171D |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,641,513 (GRCm39) |
T13528A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,717,621 (GRCm39) |
|
probably benign |
Het |
| Xpc |
C |
A |
6: 91,477,119 (GRCm39) |
G327W |
probably damaging |
Het |
| Zbtb7a |
A |
G |
10: 80,980,132 (GRCm39) |
S109G |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,285,794 (GRCm39) |
M2328V |
probably benign |
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 |
|
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 |
2015-12-18 |
Incidental Mutation