Incidental Mutation 'R8237:Map9'
ID |
637398 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map9
|
Ensembl Gene |
ENSMUSG00000033900 |
Gene Name |
microtubule-associated protein 9 |
Synonyms |
ASAP, 5330427D05Rik, 5033421J10Rik, Mtap9 |
MMRRC Submission |
067669-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.374)
|
Stock # |
R8237 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
82265379-82302575 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 82284467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 347
(P347L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142014
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091014]
[ENSMUST00000192595]
[ENSMUST00000193559]
[ENSMUST00000195471]
[ENSMUST00000195640]
[ENSMUST00000195793]
|
AlphaFold |
Q3TRR0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091014
AA Change: P347L
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000088535 Gene: ENSMUSG00000033900 AA Change: P347L
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 damaging
Transcript: ENSMUST00000192595
AA Change: P347L
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141828 Gene: ENSMUSG00000033900 AA Change: P347L
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193559
AA Change: P347L
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000142014 Gene: ENSMUSG00000033900 AA Change: P347L
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 damaging
Transcript: ENSMUST00000195471
AA Change: P347L
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141282 Gene: ENSMUSG00000033900 AA Change: P347L
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 damaging
Transcript: ENSMUST00000195640
AA Change: P347L
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000142206 Gene: ENSMUSG00000033900 AA Change: P347L
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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.2%
|
Validation Efficiency |
100% (57/57) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
T |
C |
11: 58,771,373 (GRCm39) |
L285P |
probably damaging |
Het |
Abca4 |
T |
C |
3: 121,955,952 (GRCm39) |
I1905T |
probably benign |
Het |
Abca5 |
A |
T |
11: 110,200,981 (GRCm39) |
I473K |
probably benign |
Het |
Adgrl3 |
CAA |
CA |
5: 81,935,408 (GRCm39) |
|
probably null |
Het |
Ap2a1 |
C |
A |
7: 44,550,220 (GRCm39) |
R959L |
probably damaging |
Het |
Birc6 |
G |
C |
17: 74,918,126 (GRCm39) |
L1845F |
probably damaging |
Het |
Cbs |
T |
C |
17: 31,834,454 (GRCm39) |
I512V |
probably benign |
Het |
Ccn4 |
C |
A |
15: 66,791,083 (GRCm39) |
T295N |
probably benign |
Het |
Ceacam3 |
T |
C |
7: 16,897,082 (GRCm39) |
Y683H |
|
Het |
Chd8 |
C |
T |
14: 52,450,809 (GRCm39) |
S1426N |
probably damaging |
Het |
Cog8 |
T |
C |
8: 107,782,923 (GRCm39) |
D122G |
probably benign |
Het |
Crybg1 |
G |
A |
10: 43,842,376 (GRCm39) |
Q1772* |
probably null |
Het |
Cspg4 |
T |
C |
9: 56,799,964 (GRCm39) |
F1576S |
probably damaging |
Het |
Ctse |
T |
A |
1: 131,590,467 (GRCm39) |
V63E |
probably benign |
Het |
Dnah3 |
G |
T |
7: 119,525,636 (GRCm39) |
T3917N |
probably benign |
Het |
Dst |
C |
T |
1: 34,208,874 (GRCm39) |
T1124M |
possibly damaging |
Het |
Fkbp10 |
A |
G |
11: 100,306,785 (GRCm39) |
Q59R |
probably damaging |
Het |
Fsip1 |
A |
G |
2: 118,063,483 (GRCm39) |
S329P |
probably damaging |
Het |
Ginm1 |
G |
T |
10: 7,668,419 (GRCm39) |
S56R |
unknown |
Het |
Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
Gm6401 |
T |
A |
14: 41,787,452 (GRCm39) |
I125F |
probably damaging |
Het |
Helz2 |
T |
C |
2: 180,871,124 (GRCm39) |
D2815G |
possibly damaging |
Het |
Hes1 |
T |
C |
16: 29,886,047 (GRCm39) |
V217A |
probably damaging |
Het |
Hsd3b1 |
C |
T |
3: 98,760,426 (GRCm39) |
M188I |
possibly damaging |
Het |
Ighv1-75 |
T |
C |
12: 115,797,876 (GRCm39) |
|
probably benign |
Het |
Itprid2 |
T |
C |
2: 79,487,614 (GRCm39) |
S566P |
probably benign |
Het |
Kif1b |
T |
A |
4: 149,275,642 (GRCm39) |
N1423I |
probably benign |
Het |
Lmntd1 |
G |
A |
6: 145,373,146 (GRCm39) |
T129M |
probably damaging |
Het |
Lonrf2 |
T |
A |
1: 38,839,854 (GRCm39) |
T414S |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,741,786 (GRCm39) |
D3161G |
|
Het |
Lyst |
T |
C |
13: 13,826,317 (GRCm39) |
I1608T |
probably benign |
Het |
Mixl1 |
G |
A |
1: 180,524,322 (GRCm39) |
Q86* |
probably null |
Het |
Muc5b |
T |
C |
7: 141,411,697 (GRCm39) |
S1548P |
unknown |
Het |
Myo15b |
A |
G |
11: 115,767,827 (GRCm39) |
K1376E |
|
Het |
Nlrc5 |
A |
G |
8: 95,252,753 (GRCm39) |
T105A |
unknown |
Het |
Npepps |
A |
G |
11: 97,139,026 (GRCm39) |
|
probably null |
Het |
Nup205 |
T |
A |
6: 35,204,438 (GRCm39) |
F1441L |
possibly damaging |
Het |
Or5p69 |
A |
C |
7: 107,967,234 (GRCm39) |
H179P |
probably damaging |
Het |
Pbx4 |
A |
G |
8: 70,317,093 (GRCm39) |
T117A |
probably benign |
Het |
Phf2 |
T |
A |
13: 48,976,514 (GRCm39) |
T234S |
unknown |
Het |
Pik3r2 |
G |
A |
8: 71,224,794 (GRCm39) |
A194V |
probably benign |
Het |
Plaat1 |
C |
A |
16: 29,039,106 (GRCm39) |
T62K |
probably benign |
Het |
Plbd2 |
T |
C |
5: 120,637,114 (GRCm39) |
D116G |
probably damaging |
Het |
Plpp2 |
G |
A |
10: 79,363,294 (GRCm39) |
A235V |
possibly damaging |
Het |
Prkce |
G |
T |
17: 86,866,646 (GRCm39) |
R502L |
probably damaging |
Het |
Psrc1 |
C |
T |
3: 108,293,930 (GRCm39) |
A249V |
probably damaging |
Het |
Ptdss1 |
T |
C |
13: 67,124,841 (GRCm39) |
C347R |
probably damaging |
Het |
Serpina1b |
C |
A |
12: 103,785,063 (GRCm39) |
|
probably null |
Het |
Spcs1 |
C |
G |
14: 30,722,658 (GRCm39) |
A113P |
noncoding transcript |
Het |
Stxbp2 |
C |
T |
8: 3,685,695 (GRCm39) |
T247M |
|
Het |
Tex15 |
A |
G |
8: 34,067,427 (GRCm39) |
T2286A |
possibly damaging |
Het |
Usp45 |
T |
G |
4: 21,834,274 (GRCm39) |
V736G |
probably damaging |
Het |
Vmn2r69 |
A |
G |
7: 85,060,340 (GRCm39) |
S415P |
probably benign |
Het |
Zfp407 |
T |
C |
18: 84,578,269 (GRCm39) |
E948G |
possibly damaging |
Het |
Zfp942 |
A |
T |
17: 22,147,226 (GRCm39) |
C468S |
possibly damaging |
Het |
Zmym6 |
A |
G |
4: 127,016,544 (GRCm39) |
E775G |
probably damaging |
Het |
Zranb2 |
A |
G |
3: 157,250,677 (GRCm39) |
R283G |
probably null |
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 |
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'- CTGGGATTCCTTGCTATCAAATG -3'
(R):5'- TCCAGTGAACACTCGGCTTC -3'
Sequencing Primer
(F):5'- GAAAATGAAGGAAGTTCTGTTTTGG -3'
(R):5'- GTGAACACTCGGCTTCACTCAG -3'
|
Posted On |
2020-07-13 |