Incidental Mutation 'R1735:Map4'
ID |
199642 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map4
|
Ensembl Gene |
ENSMUSG00000032479 |
Gene Name |
microtubule-associated protein 4 |
Synonyms |
MAP 4, Mtap4 |
MMRRC Submission |
039767-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1735 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
109760528-109913023 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 109864023 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 416
(T416I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132662
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035055]
[ENSMUST00000165876]
|
AlphaFold |
P27546 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035055
AA Change: T416I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000035055 Gene: ENSMUSG00000032479 AA Change: T416I
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: T416I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000132662 Gene: ENSMUSG00000032479 AA Change: T416I
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: 97.6%
- 3x: 97.0%
- 10x: 95.3%
- 20x: 92.1%
|
Validation Efficiency |
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot5 |
A |
T |
12: 84,122,261 (GRCm39) |
I282F |
probably benign |
Het |
Adam19 |
C |
A |
11: 46,029,744 (GRCm39) |
Q730K |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,636,066 (GRCm39) |
V3481A |
possibly damaging |
Het |
Akr1c20 |
T |
C |
13: 4,537,207 (GRCm39) |
D316G |
probably benign |
Het |
Ap3b1 |
G |
A |
13: 94,630,225 (GRCm39) |
V827I |
unknown |
Het |
Aph1a |
T |
A |
3: 95,802,821 (GRCm39) |
D140E |
probably damaging |
Het |
Arhgef19 |
G |
T |
4: 140,976,929 (GRCm39) |
V502L |
possibly damaging |
Het |
Arl9 |
T |
C |
5: 77,154,473 (GRCm39) |
F67S |
probably damaging |
Het |
B430305J03Rik |
G |
A |
3: 61,271,361 (GRCm39) |
|
probably benign |
Het |
B4galnt2 |
A |
G |
11: 95,781,809 (GRCm39) |
F119L |
probably damaging |
Het |
Bcap29 |
T |
A |
12: 31,680,839 (GRCm39) |
N49I |
probably damaging |
Het |
Capn11 |
T |
A |
17: 45,943,327 (GRCm39) |
K616* |
probably null |
Het |
Cdh12 |
T |
A |
15: 21,520,452 (GRCm39) |
Y306N |
probably damaging |
Het |
Cep350 |
T |
A |
1: 155,828,960 (GRCm39) |
N315Y |
probably damaging |
Het |
Cfap300 |
A |
C |
9: 8,027,266 (GRCm39) |
S91A |
probably benign |
Het |
Cited2 |
C |
A |
10: 17,599,794 (GRCm39) |
P34Q |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,226,297 (GRCm39) |
D2930E |
probably benign |
Het |
Cog3 |
T |
A |
14: 75,966,761 (GRCm39) |
K470* |
probably null |
Het |
Commd10 |
A |
G |
18: 47,123,552 (GRCm39) |
T136A |
probably benign |
Het |
Csf2ra |
C |
A |
19: 61,214,782 (GRCm39) |
D181Y |
probably damaging |
Het |
Csmd1 |
T |
A |
8: 15,982,610 (GRCm39) |
I2686F |
probably damaging |
Het |
Dhx29 |
T |
C |
13: 113,081,620 (GRCm39) |
S415P |
probably benign |
Het |
Dsel |
A |
T |
1: 111,788,645 (GRCm39) |
F630Y |
probably damaging |
Het |
Ell |
T |
A |
8: 71,031,590 (GRCm39) |
I96N |
possibly damaging |
Het |
Ephx2 |
T |
A |
14: 66,325,752 (GRCm39) |
I358L |
probably benign |
Het |
Fam162b |
A |
G |
10: 51,463,307 (GRCm39) |
I120T |
probably damaging |
Het |
Fam187a |
T |
C |
11: 102,776,606 (GRCm39) |
Y137H |
probably damaging |
Het |
Fastk |
T |
C |
5: 24,646,801 (GRCm39) |
E403G |
probably damaging |
Het |
Fcrlb |
C |
A |
1: 170,734,901 (GRCm39) |
V409F |
probably benign |
Het |
Flot2 |
G |
T |
11: 77,948,831 (GRCm39) |
A269S |
probably benign |
Het |
Gpd2 |
T |
A |
2: 57,245,563 (GRCm39) |
N419K |
probably damaging |
Het |
Hecw1 |
A |
T |
13: 14,552,350 (GRCm39) |
M61K |
probably null |
Het |
Htr2a |
T |
C |
14: 74,943,568 (GRCm39) |
F383L |
probably damaging |
Het |
Kctd6 |
C |
T |
14: 8,222,253 (GRCm38) |
R32C |
probably damaging |
Het |
Khdc1a |
A |
G |
1: 21,421,189 (GRCm39) |
T125A |
probably benign |
Het |
Klhl40 |
T |
C |
9: 121,609,004 (GRCm39) |
S390P |
probably benign |
Het |
Lonp1 |
G |
A |
17: 56,921,956 (GRCm39) |
T808I |
probably damaging |
Het |
Loxhd1 |
A |
C |
18: 77,492,585 (GRCm39) |
D1342A |
probably damaging |
Het |
Lrat |
T |
C |
3: 82,804,417 (GRCm39) |
I187V |
probably benign |
Het |
Lrif1 |
T |
C |
3: 106,643,162 (GRCm39) |
*238Q |
probably null |
Het |
Lrp2bp |
T |
C |
8: 46,465,025 (GRCm39) |
F48S |
probably benign |
Het |
Mafg |
A |
G |
11: 120,520,504 (GRCm39) |
M32T |
possibly damaging |
Het |
N4bp2 |
T |
C |
5: 65,965,659 (GRCm39) |
F1236S |
probably damaging |
Het |
Nfatc3 |
A |
G |
8: 106,810,466 (GRCm39) |
D414G |
probably damaging |
Het |
Nhsl3 |
G |
T |
4: 129,117,370 (GRCm39) |
S476R |
probably damaging |
Het |
Nrip2 |
T |
G |
6: 128,382,037 (GRCm39) |
V50G |
probably damaging |
Het |
Or10aa3 |
A |
T |
1: 173,878,365 (GRCm39) |
K142I |
probably benign |
Het |
Or10j5 |
A |
G |
1: 172,784,374 (GRCm39) |
N4S |
probably benign |
Het |
Or52ae7 |
T |
A |
7: 103,119,353 (GRCm39) |
F36I |
possibly damaging |
Het |
Or5b24 |
T |
A |
19: 12,912,207 (GRCm39) |
I35N |
probably damaging |
Het |
Pcdhb18 |
A |
T |
18: 37,623,822 (GRCm39) |
H384L |
probably benign |
Het |
Pik3r1 |
A |
T |
13: 101,822,882 (GRCm39) |
Y607N |
probably damaging |
Het |
Plagl2 |
G |
A |
2: 153,074,397 (GRCm39) |
T168I |
probably damaging |
Het |
Polr2a |
A |
G |
11: 69,633,222 (GRCm39) |
S912P |
probably damaging |
Het |
Ppp1r16b |
A |
G |
2: 158,603,415 (GRCm39) |
K447E |
possibly damaging |
Het |
Prkd1 |
T |
C |
12: 50,388,822 (GRCm39) |
E907G |
possibly damaging |
Het |
Rabep2 |
A |
G |
7: 126,043,712 (GRCm39) |
R470G |
probably damaging |
Het |
Rasal2 |
T |
C |
1: 157,001,730 (GRCm39) |
Y518C |
probably damaging |
Het |
Rbmxl1 |
A |
G |
8: 79,232,711 (GRCm39) |
Y211H |
probably damaging |
Het |
Rdh7 |
T |
C |
10: 127,720,454 (GRCm39) |
Y306C |
probably benign |
Het |
Rtn3 |
T |
C |
19: 7,435,276 (GRCm39) |
I220V |
probably damaging |
Het |
Scn8a |
A |
G |
15: 100,913,742 (GRCm39) |
N1045D |
possibly damaging |
Het |
Scube1 |
T |
C |
15: 83,491,638 (GRCm39) |
H952R |
probably damaging |
Het |
Sf3b1 |
A |
G |
1: 55,039,811 (GRCm39) |
I690T |
probably damaging |
Het |
Sharpin |
T |
C |
15: 76,232,136 (GRCm39) |
K240R |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,420,656 (GRCm39) |
I1108T |
unknown |
Het |
Snip1 |
A |
G |
4: 124,964,994 (GRCm39) |
D133G |
probably benign |
Het |
St3gal3 |
T |
C |
4: 117,871,971 (GRCm39) |
Y77C |
probably damaging |
Het |
Sytl3 |
T |
C |
17: 6,982,880 (GRCm39) |
V112A |
probably benign |
Het |
Tnxb |
C |
T |
17: 34,936,944 (GRCm39) |
P3718S |
probably damaging |
Het |
Ttc24 |
A |
T |
3: 87,980,401 (GRCm39) |
|
probably null |
Het |
Ubr3 |
A |
T |
2: 69,839,473 (GRCm39) |
E1529V |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,585,882 (GRCm39) |
H965L |
probably benign |
Het |
Xrn2 |
T |
A |
2: 146,903,343 (GRCm39) |
L781Q |
probably damaging |
Het |
Zbtb11 |
T |
C |
16: 55,811,045 (GRCm39) |
I401T |
probably benign |
Het |
Zc3h14 |
C |
T |
12: 98,724,839 (GRCm39) |
P167L |
probably damaging |
Het |
Zfp609 |
G |
T |
9: 65,610,374 (GRCm39) |
S863* |
probably null |
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 |
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 |
R7780:Map4
|
UTSW |
9 |
109,863,720 (GRCm39) |
missense |
probably benign |
0.00 |
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'- GTCCCAGGCAATGATACGACATCC -3'
(R):5'- GTATAACCACGTCCTTGCCCAGAG -3'
Sequencing Primer
(F):5'- CTTCCAATAAAAATGGACTTGGCAC -3'
(R):5'- CTGATTCTGGGAGTGGAGAC -3'
|
Posted On |
2014-05-23 |