Incidental Mutation 'R7780:Map4'
ID |
599173 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map4
|
Ensembl Gene |
ENSMUSG00000032479 |
Gene Name |
microtubule-associated protein 4 |
Synonyms |
MAP 4, Mtap4 |
MMRRC Submission |
045836-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7780 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
109760528-109913023 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 109863720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 315
(I315T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035055
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035055]
[ENSMUST00000165876]
|
AlphaFold |
P27546 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035055
AA Change: I315T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000035055 Gene: ENSMUSG00000032479 AA Change: I315T
Domain | Start | End | E-Value | Type |
low complexity region
|
254 |
265 |
N/A |
INTRINSIC |
internal_repeat_1
|
266 |
379 |
4.96e-7 |
PROSPERO |
low complexity region
|
401 |
420 |
N/A |
INTRINSIC |
internal_repeat_1
|
439 |
550 |
4.96e-7 |
PROSPERO |
low complexity region
|
659 |
674 |
N/A |
INTRINSIC |
low complexity region
|
720 |
742 |
N/A |
INTRINSIC |
low complexity region
|
760 |
775 |
N/A |
INTRINSIC |
low complexity region
|
879 |
889 |
N/A |
INTRINSIC |
Pfam:Tubulin-binding
|
903 |
926 |
2e-12 |
PFAM |
Pfam:Tubulin-binding
|
965 |
995 |
4.9e-18 |
PFAM |
Pfam:Tubulin-binding
|
996 |
1026 |
7.4e-18 |
PFAM |
Pfam:Tubulin-binding
|
1027 |
1058 |
4.4e-15 |
PFAM |
low complexity region
|
1093 |
1108 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163190
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165876
AA Change: I315T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000132662 Gene: ENSMUSG00000032479 AA Change: I315T
Domain | Start | End | E-Value | Type |
low complexity region
|
254 |
265 |
N/A |
INTRINSIC |
internal_repeat_1
|
266 |
379 |
4.95e-7 |
PROSPERO |
low complexity region
|
401 |
420 |
N/A |
INTRINSIC |
internal_repeat_1
|
439 |
550 |
4.95e-7 |
PROSPERO |
low complexity region
|
659 |
674 |
N/A |
INTRINSIC |
low complexity region
|
720 |
742 |
N/A |
INTRINSIC |
low complexity region
|
760 |
775 |
N/A |
INTRINSIC |
low complexity region
|
879 |
889 |
N/A |
INTRINSIC |
Pfam:Tubulin-binding
|
896 |
926 |
8.5e-16 |
PFAM |
Pfam:Tubulin-binding
|
965 |
995 |
6.4e-19 |
PFAM |
Pfam:Tubulin-binding
|
996 |
1026 |
3.3e-18 |
PFAM |
Pfam:Tubulin-binding
|
1027 |
1058 |
2.3e-11 |
PFAM |
low complexity region
|
1093 |
1108 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (77/77) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a major non-neuronal microtubule-associated protein. This protein contains a domain similar to the microtubule-binding domains of neuronal microtubule-associated protein (MAP2) and microtubule-associated protein tau (MAPT/TAU). This protein promotes microtubule assembly, and has been shown to counteract destabilization of interphase microtubule catastrophe promotion. Cyclin B was found to interact with this protein, which targets cell division cycle 2 (CDC2) kinase to microtubules. The phosphorylation of this protein affects microtubule properties and cell cycle progression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] PHENOTYPE: Mice homozygous for a gene trapped allele are viable and do not display any overt phenotypic abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
C |
T |
8: 25,294,432 (GRCm39) |
R389K |
possibly damaging |
Het |
Ahnak2 |
C |
T |
12: 112,746,716 (GRCm39) |
V1205M |
|
Het |
Ccr3 |
A |
G |
9: 123,828,989 (GRCm39) |
Y108C |
probably benign |
Het |
Cers5 |
T |
G |
15: 99,637,589 (GRCm39) |
H220P |
probably damaging |
Het |
Cfap61 |
A |
T |
2: 145,995,692 (GRCm39) |
N1086Y |
possibly damaging |
Het |
Cip2a |
T |
A |
16: 48,822,023 (GRCm39) |
L217* |
probably null |
Het |
Clstn3 |
T |
C |
6: 124,439,161 (GRCm39) |
E32G |
probably damaging |
Het |
Cox20 |
T |
C |
1: 178,149,566 (GRCm39) |
C72R |
probably benign |
Het |
Csf1 |
A |
T |
3: 107,657,709 (GRCm39) |
N154K |
probably damaging |
Het |
Cyp2j7 |
T |
A |
4: 96,118,256 (GRCm39) |
K112N |
probably benign |
Het |
Drosha |
A |
G |
15: 12,848,172 (GRCm39) |
D488G |
probably benign |
Het |
Edem1 |
A |
G |
6: 108,818,589 (GRCm39) |
K199R |
probably benign |
Het |
Esyt2 |
T |
C |
12: 116,305,718 (GRCm39) |
I316T |
probably benign |
Het |
Evpl |
C |
T |
11: 116,125,000 (GRCm39) |
R154H |
not run |
Het |
Fbn1 |
A |
G |
2: 125,143,678 (GRCm39) |
L2817P |
probably benign |
Het |
Fbxo42 |
T |
A |
4: 140,921,131 (GRCm39) |
|
probably null |
Het |
Fbxo43 |
T |
C |
15: 36,162,358 (GRCm39) |
D283G |
probably damaging |
Het |
Fdxr |
A |
T |
11: 115,167,656 (GRCm39) |
S20T |
probably benign |
Het |
Fkbp10 |
T |
C |
11: 100,312,048 (GRCm39) |
Y203H |
probably damaging |
Het |
Galntl6 |
C |
T |
8: 58,880,733 (GRCm39) |
|
probably null |
Het |
Gask1b |
G |
A |
3: 79,848,711 (GRCm39) |
G486S |
probably damaging |
Het |
Gm26657 |
C |
A |
4: 56,741,056 (GRCm39) |
Y80* |
probably null |
Het |
Gm973 |
T |
A |
1: 59,597,289 (GRCm39) |
W440R |
probably damaging |
Het |
Helz |
T |
A |
11: 107,528,689 (GRCm39) |
F903Y |
probably damaging |
Het |
Iqcf4 |
T |
A |
9: 106,445,860 (GRCm39) |
I96F |
possibly damaging |
Het |
Kcnq5 |
T |
A |
1: 22,031,555 (GRCm39) |
Q84L |
probably benign |
Het |
Krit1 |
G |
A |
5: 3,862,772 (GRCm39) |
G254S |
probably damaging |
Het |
Krtap6-2 |
A |
T |
16: 89,216,510 (GRCm39) |
Y152* |
probably null |
Het |
Loricrin |
A |
T |
3: 91,988,460 (GRCm39) |
Y275* |
probably null |
Het |
Mcpt1 |
T |
A |
14: 56,256,609 (GRCm39) |
|
probably null |
Het |
Mdh1b |
C |
A |
1: 63,759,133 (GRCm39) |
S153I |
possibly damaging |
Het |
Mfsd12 |
C |
A |
10: 81,193,718 (GRCm39) |
A96E |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,315,697 (GRCm39) |
E55G |
probably benign |
Het |
Mterf4 |
T |
C |
1: 93,232,689 (GRCm39) |
E54G |
probably benign |
Het |
Mucl3 |
A |
G |
17: 35,947,874 (GRCm39) |
S452P |
possibly damaging |
Het |
Nuggc |
T |
A |
14: 65,882,490 (GRCm39) |
I745N |
probably damaging |
Het |
Or6k6 |
T |
C |
1: 173,945,115 (GRCm39) |
I156V |
probably benign |
Het |
Or7g18 |
A |
G |
9: 18,786,910 (GRCm39) |
T93A |
possibly damaging |
Het |
Parg |
A |
T |
14: 31,930,758 (GRCm39) |
N126I |
possibly damaging |
Het |
Pcdh9 |
T |
C |
14: 94,123,987 (GRCm39) |
I728V |
possibly damaging |
Het |
Pcdha1 |
C |
G |
18: 37,065,511 (GRCm39) |
P725R |
probably benign |
Het |
Pcdha11 |
T |
A |
18: 37,145,849 (GRCm39) |
L647M |
probably damaging |
Het |
Phb2 |
T |
C |
6: 124,692,995 (GRCm39) |
|
probably null |
Het |
Plb1 |
A |
G |
5: 32,483,610 (GRCm39) |
|
probably null |
Het |
Pmch |
T |
A |
10: 87,927,113 (GRCm39) |
F39I |
probably benign |
Het |
Psmd7 |
A |
T |
8: 108,307,920 (GRCm39) |
S188T |
possibly damaging |
Het |
Pycr2 |
T |
A |
1: 180,733,913 (GRCm39) |
D168E |
probably damaging |
Het |
Rab43 |
A |
G |
6: 87,771,692 (GRCm39) |
Y96H |
probably damaging |
Het |
Ralgapa2 |
C |
T |
2: 146,184,334 (GRCm39) |
G1511S |
probably benign |
Het |
Rb1cc1 |
T |
A |
1: 6,319,138 (GRCm39) |
C852* |
probably null |
Het |
Rexo2 |
T |
C |
9: 48,380,145 (GRCm39) |
N229S |
probably damaging |
Het |
Sema4f |
A |
G |
6: 82,890,941 (GRCm39) |
V622A |
possibly damaging |
Het |
Serpina10 |
T |
C |
12: 103,594,806 (GRCm39) |
S138G |
probably benign |
Het |
Sptbn4 |
T |
A |
7: 27,061,059 (GRCm39) |
T2415S |
possibly damaging |
Het |
Tbc1d22b |
A |
G |
17: 29,792,040 (GRCm39) |
N257D |
probably benign |
Het |
Tbl3 |
A |
G |
17: 24,921,205 (GRCm39) |
F529L |
probably damaging |
Het |
Them6 |
A |
T |
15: 74,593,427 (GRCm39) |
N95I |
probably benign |
Het |
Thrb |
T |
C |
14: 18,008,608 (GRCm38) |
S156P |
possibly damaging |
Het |
Tmem186 |
G |
A |
16: 8,453,731 (GRCm39) |
R177C |
probably benign |
Het |
Ttn |
T |
A |
2: 76,660,937 (GRCm39) |
|
probably null |
Het |
Unc13a |
T |
A |
8: 72,110,979 (GRCm39) |
I411F |
probably benign |
Het |
Uqcc1 |
T |
C |
2: 155,752,073 (GRCm39) |
|
probably null |
Het |
Vmn1r56 |
T |
C |
7: 5,199,516 (GRCm39) |
T34A |
possibly damaging |
Het |
Vps39 |
A |
T |
2: 120,155,680 (GRCm39) |
Y542* |
probably null |
Het |
Wdr64 |
T |
C |
1: 175,556,542 (GRCm39) |
L263P |
probably damaging |
Het |
Wdr90 |
C |
T |
17: 26,065,300 (GRCm39) |
R1652Q |
probably damaging |
Het |
Wfdc16 |
A |
G |
2: 164,477,785 (GRCm39) |
M88T |
probably benign |
Het |
Wnk4 |
A |
G |
11: 101,160,403 (GRCm39) |
D679G |
probably damaging |
Het |
Ykt6 |
T |
C |
11: 5,912,751 (GRCm39) |
I151T |
probably benign |
Het |
Zbtb46 |
A |
G |
2: 181,033,225 (GRCm39) |
C479R |
probably damaging |
Het |
Zc3h7a |
A |
G |
16: 10,967,115 (GRCm39) |
I559T |
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,678,283 (GRCm39) |
N3111S |
possibly damaging |
Het |
Zfp619 |
T |
C |
7: 39,184,432 (GRCm39) |
V154A |
possibly damaging |
Het |
Zfp629 |
A |
T |
7: 127,211,601 (GRCm39) |
D69E |
probably benign |
Het |
Zfp882 |
T |
A |
8: 72,668,073 (GRCm39) |
I300N |
possibly damaging |
Het |
Zfp934 |
T |
C |
13: 62,666,358 (GRCm39) |
H106R |
possibly damaging |
Het |
Zfta |
T |
C |
19: 7,399,737 (GRCm39) |
S495P |
probably damaging |
Het |
Zfyve9 |
G |
A |
4: 108,576,298 (GRCm39) |
T261I |
possibly damaging |
Het |
|
Other mutations in Map4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00565:Map4
|
APN |
9 |
109,901,672 (GRCm39) |
splice site |
probably benign |
|
IGL01331:Map4
|
APN |
9 |
109,863,869 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01599:Map4
|
APN |
9 |
109,863,836 (GRCm39) |
missense |
probably benign |
0.26 |
IGL01631:Map4
|
APN |
9 |
109,892,201 (GRCm39) |
unclassified |
probably benign |
|
IGL02208:Map4
|
APN |
9 |
109,807,938 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
IGL02455:Map4
|
APN |
9 |
109,828,901 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02625:Map4
|
APN |
9 |
109,893,485 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4486001:Map4
|
UTSW |
9 |
109,901,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R0149:Map4
|
UTSW |
9 |
109,896,692 (GRCm39) |
missense |
probably damaging |
0.96 |
R0384:Map4
|
UTSW |
9 |
109,863,696 (GRCm39) |
missense |
probably damaging |
0.99 |
R0392:Map4
|
UTSW |
9 |
109,907,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R0496:Map4
|
UTSW |
9 |
109,868,918 (GRCm39) |
intron |
probably benign |
|
R0526:Map4
|
UTSW |
9 |
109,866,346 (GRCm39) |
splice site |
probably null |
|
R0555:Map4
|
UTSW |
9 |
109,808,171 (GRCm39) |
splice site |
probably benign |
|
R0571:Map4
|
UTSW |
9 |
109,865,834 (GRCm39) |
missense |
probably benign |
0.00 |
R0698:Map4
|
UTSW |
9 |
109,897,856 (GRCm39) |
nonsense |
probably null |
|
R0762:Map4
|
UTSW |
9 |
109,867,546 (GRCm39) |
intron |
probably benign |
|
R0862:Map4
|
UTSW |
9 |
109,808,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R0864:Map4
|
UTSW |
9 |
109,808,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R1168:Map4
|
UTSW |
9 |
109,864,032 (GRCm39) |
missense |
probably benign |
0.00 |
R1238:Map4
|
UTSW |
9 |
109,897,648 (GRCm39) |
missense |
probably benign |
0.00 |
R1735:Map4
|
UTSW |
9 |
109,864,023 (GRCm39) |
missense |
probably benign |
0.00 |
R1869:Map4
|
UTSW |
9 |
109,897,996 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1869:Map4
|
UTSW |
9 |
109,864,032 (GRCm39) |
missense |
probably benign |
0.00 |
R2196:Map4
|
UTSW |
9 |
109,900,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R2264:Map4
|
UTSW |
9 |
109,910,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R2507:Map4
|
UTSW |
9 |
109,866,551 (GRCm39) |
intron |
probably benign |
|
R2512:Map4
|
UTSW |
9 |
109,863,770 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3087:Map4
|
UTSW |
9 |
109,882,257 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3154:Map4
|
UTSW |
9 |
109,828,860 (GRCm39) |
missense |
probably benign |
0.19 |
R3498:Map4
|
UTSW |
9 |
109,864,280 (GRCm39) |
missense |
probably benign |
0.03 |
R3547:Map4
|
UTSW |
9 |
109,881,266 (GRCm39) |
missense |
possibly damaging |
0.61 |
R3751:Map4
|
UTSW |
9 |
109,867,742 (GRCm39) |
intron |
probably benign |
|
R4036:Map4
|
UTSW |
9 |
109,861,283 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4423:Map4
|
UTSW |
9 |
109,896,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R4505:Map4
|
UTSW |
9 |
109,861,253 (GRCm39) |
missense |
probably benign |
0.01 |
R4561:Map4
|
UTSW |
9 |
109,881,439 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4577:Map4
|
UTSW |
9 |
109,910,489 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4601:Map4
|
UTSW |
9 |
109,881,887 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4795:Map4
|
UTSW |
9 |
109,864,331 (GRCm39) |
missense |
probably benign |
0.00 |
R4801:Map4
|
UTSW |
9 |
109,864,325 (GRCm39) |
missense |
probably benign |
0.15 |
R4802:Map4
|
UTSW |
9 |
109,864,325 (GRCm39) |
missense |
probably benign |
0.15 |
R4999:Map4
|
UTSW |
9 |
109,867,445 (GRCm39) |
intron |
probably benign |
|
R5020:Map4
|
UTSW |
9 |
109,897,868 (GRCm39) |
missense |
probably benign |
0.02 |
R5021:Map4
|
UTSW |
9 |
109,867,157 (GRCm39) |
nonsense |
probably null |
|
R5049:Map4
|
UTSW |
9 |
109,908,882 (GRCm39) |
nonsense |
probably null |
|
R5451:Map4
|
UTSW |
9 |
109,866,851 (GRCm39) |
intron |
probably benign |
|
R5452:Map4
|
UTSW |
9 |
109,866,851 (GRCm39) |
intron |
probably benign |
|
R5453:Map4
|
UTSW |
9 |
109,866,851 (GRCm39) |
intron |
probably benign |
|
R5492:Map4
|
UTSW |
9 |
109,881,450 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5532:Map4
|
UTSW |
9 |
109,863,746 (GRCm39) |
missense |
probably benign |
0.24 |
R5602:Map4
|
UTSW |
9 |
109,881,768 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5628:Map4
|
UTSW |
9 |
109,910,915 (GRCm39) |
missense |
probably benign |
0.04 |
R5896:Map4
|
UTSW |
9 |
109,901,702 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6017:Map4
|
UTSW |
9 |
109,863,687 (GRCm39) |
missense |
probably benign |
0.00 |
R6084:Map4
|
UTSW |
9 |
109,893,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R6294:Map4
|
UTSW |
9 |
109,831,814 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6397:Map4
|
UTSW |
9 |
109,856,784 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6773:Map4
|
UTSW |
9 |
109,863,993 (GRCm39) |
missense |
probably benign |
0.00 |
R6997:Map4
|
UTSW |
9 |
109,881,982 (GRCm39) |
missense |
probably benign |
0.35 |
R7141:Map4
|
UTSW |
9 |
109,807,938 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R7187:Map4
|
UTSW |
9 |
109,882,201 (GRCm39) |
missense |
probably benign |
0.03 |
R7320:Map4
|
UTSW |
9 |
109,910,585 (GRCm39) |
missense |
probably benign |
0.24 |
R7469:Map4
|
UTSW |
9 |
109,856,865 (GRCm39) |
splice site |
probably null |
|
R7479:Map4
|
UTSW |
9 |
109,897,892 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7487:Map4
|
UTSW |
9 |
109,856,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R7690:Map4
|
UTSW |
9 |
109,828,861 (GRCm39) |
missense |
probably damaging |
0.99 |
R7998:Map4
|
UTSW |
9 |
109,908,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R8028:Map4
|
UTSW |
9 |
109,897,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R8557:Map4
|
UTSW |
9 |
109,893,370 (GRCm39) |
splice site |
probably null |
|
R8950:Map4
|
UTSW |
9 |
109,901,702 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8972:Map4
|
UTSW |
9 |
109,864,185 (GRCm39) |
missense |
probably benign |
|
R9145:Map4
|
UTSW |
9 |
109,855,268 (GRCm39) |
missense |
probably damaging |
0.99 |
R9297:Map4
|
UTSW |
9 |
109,882,480 (GRCm39) |
missense |
probably benign |
0.02 |
R9332:Map4
|
UTSW |
9 |
109,864,223 (GRCm39) |
missense |
probably benign |
0.00 |
R9354:Map4
|
UTSW |
9 |
109,897,847 (GRCm39) |
missense |
probably benign |
|
R9419:Map4
|
UTSW |
9 |
109,882,029 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9430:Map4
|
UTSW |
9 |
109,863,760 (GRCm39) |
missense |
probably benign |
0.41 |
R9437:Map4
|
UTSW |
9 |
109,864,155 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9718:Map4
|
UTSW |
9 |
109,901,774 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Map4
|
UTSW |
9 |
109,897,591 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTGATGTGGTGCACTCTCC -3'
(R):5'- AGTGAAACCATGCCCTTGG -3'
Sequencing Primer
(F):5'- GGTGCACTCTCCATCCACAG -3'
(R):5'- CCCTTGGCTGGGGCTAGTTC -3'
|
Posted On |
2019-11-26 |