Incidental Mutation 'R6294:Map4'
ID |
508614 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map4
|
Ensembl Gene |
ENSMUSG00000032479 |
Gene Name |
microtubule-associated protein 4 |
Synonyms |
MAP 4, Mtap4 |
MMRRC Submission |
044406-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6294 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
109760528-109913023 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 109831814 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 98
(E98G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131660
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035055]
[ENSMUST00000165876]
[ENSMUST00000169851]
|
AlphaFold |
P27546 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035055
|
SMART Domains |
Protein: ENSMUSP00000035055 Gene: ENSMUSG00000032479
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: ENSMUST00000165876
|
SMART Domains |
Protein: ENSMUSP00000132662 Gene: ENSMUSG00000032479
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169851
AA Change: E98G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196806
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197289
|
Meta Mutation Damage Score |
0.0725 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
99% (71/72) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
T |
6: 121,631,440 (GRCm39) |
H579L |
probably benign |
Het |
Aldh2 |
G |
A |
5: 121,710,879 (GRCm39) |
Q8* |
probably null |
Het |
Ankdd1a |
G |
T |
9: 65,427,446 (GRCm39) |
H10Q |
probably benign |
Het |
Arpp21 |
A |
G |
9: 111,956,520 (GRCm39) |
F453L |
probably damaging |
Het |
Birc6 |
C |
A |
17: 74,996,252 (GRCm39) |
D4461E |
probably benign |
Het |
Cacna1b |
A |
T |
2: 24,609,069 (GRCm39) |
S411T |
possibly damaging |
Het |
Camk2g |
A |
G |
14: 20,815,017 (GRCm39) |
I203T |
probably damaging |
Het |
Cat |
A |
T |
2: 103,290,640 (GRCm39) |
C425S |
probably benign |
Het |
Ccdc34 |
A |
G |
2: 109,848,496 (GRCm39) |
D95G |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,630,946 (GRCm39) |
S305G |
probably null |
Het |
Cul7 |
T |
C |
17: 46,974,074 (GRCm39) |
I1453T |
probably benign |
Het |
Dlg1 |
T |
A |
16: 31,656,942 (GRCm39) |
I612N |
probably damaging |
Het |
Dync2h1 |
T |
G |
9: 7,084,986 (GRCm39) |
K561T |
probably benign |
Het |
Erbin |
T |
C |
13: 103,993,564 (GRCm39) |
T359A |
probably benign |
Het |
Far2 |
T |
A |
6: 148,058,980 (GRCm39) |
L222Q |
probably damaging |
Het |
Fbxw17 |
A |
G |
13: 50,577,839 (GRCm39) |
E114G |
probably benign |
Het |
Fryl |
A |
T |
5: 73,349,102 (GRCm39) |
|
probably benign |
Het |
Ggn |
A |
G |
7: 28,873,273 (GRCm39) |
D666G |
possibly damaging |
Het |
Hal |
G |
A |
10: 93,350,005 (GRCm39) |
|
probably null |
Het |
Htt |
A |
G |
5: 34,979,170 (GRCm39) |
D851G |
probably benign |
Het |
Ighv14-2 |
A |
T |
12: 113,958,218 (GRCm39) |
D74E |
probably benign |
Het |
Igkv5-43 |
G |
A |
6: 69,800,426 (GRCm39) |
S87L |
probably damaging |
Het |
Klhl29 |
A |
T |
12: 5,133,995 (GRCm39) |
F720I |
probably damaging |
Het |
Klk1b8 |
T |
A |
7: 43,602,196 (GRCm39) |
Y43N |
probably damaging |
Het |
Krtap20-1 |
T |
A |
16: 88,880,989 (GRCm39) |
Y7N |
unknown |
Het |
Lama4 |
T |
A |
10: 38,951,466 (GRCm39) |
F1070L |
probably damaging |
Het |
Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
Mki67 |
A |
G |
7: 135,306,319 (GRCm39) |
M581T |
probably benign |
Het |
Mtss2 |
T |
A |
8: 111,453,960 (GRCm39) |
N43K |
possibly damaging |
Het |
Mylk3 |
T |
A |
8: 86,077,012 (GRCm39) |
I475F |
probably damaging |
Het |
Nat14 |
C |
T |
7: 4,927,073 (GRCm39) |
R82* |
probably null |
Het |
Nckap1 |
T |
C |
2: 80,371,858 (GRCm39) |
N324S |
probably benign |
Het |
Nemp1 |
C |
T |
10: 127,530,391 (GRCm39) |
T281M |
possibly damaging |
Het |
Nrg3 |
A |
T |
14: 38,119,196 (GRCm39) |
H425Q |
probably benign |
Het |
Omd |
T |
A |
13: 49,743,467 (GRCm39) |
N172K |
probably damaging |
Het |
Or10c1 |
T |
C |
17: 37,522,517 (GRCm39) |
T76A |
probably benign |
Het |
Or12d12 |
T |
A |
17: 37,610,444 (GRCm39) |
T290S |
probably benign |
Het |
Or4f62 |
A |
G |
2: 111,986,364 (GRCm39) |
I23V |
probably benign |
Het |
Or52a33 |
A |
G |
7: 103,288,798 (GRCm39) |
M183T |
probably damaging |
Het |
Or52r1c |
A |
T |
7: 102,734,874 (GRCm39) |
I45F |
probably benign |
Het |
Or5b123 |
T |
C |
19: 13,596,730 (GRCm39) |
V25A |
probably benign |
Het |
Orc1 |
T |
C |
4: 108,447,867 (GRCm39) |
I38T |
probably benign |
Het |
Oxct1 |
A |
G |
15: 4,172,304 (GRCm39) |
T457A |
possibly damaging |
Het |
Pcdh17 |
A |
T |
14: 84,715,108 (GRCm39) |
K924N |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,433,424 (GRCm39) |
I3435F |
probably damaging |
Het |
Psg20 |
C |
A |
7: 18,416,604 (GRCm39) |
V171F |
probably damaging |
Het |
Rab11fip2 |
A |
T |
19: 59,925,531 (GRCm39) |
S87T |
probably damaging |
Het |
Rabgap1l |
T |
C |
1: 160,059,419 (GRCm39) |
T237A |
probably benign |
Het |
Rasgrp1 |
A |
T |
2: 117,122,273 (GRCm39) |
Y372* |
probably null |
Het |
Rell1 |
G |
T |
5: 64,097,048 (GRCm39) |
|
probably benign |
Het |
Rps14 |
A |
G |
18: 60,910,033 (GRCm39) |
K61E |
possibly damaging |
Het |
Rtl6 |
A |
G |
15: 84,441,321 (GRCm39) |
V25A |
possibly damaging |
Het |
Ryr2 |
G |
T |
13: 11,894,382 (GRCm39) |
S185R |
probably damaging |
Het |
Slc10a2 |
C |
T |
8: 5,141,621 (GRCm39) |
|
probably null |
Het |
Slc14a1 |
T |
A |
18: 78,153,273 (GRCm39) |
|
probably null |
Het |
Smad2 |
A |
T |
18: 76,422,233 (GRCm39) |
N215I |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,677,922 (GRCm39) |
N1473K |
probably benign |
Het |
Spag9 |
A |
G |
11: 93,984,311 (GRCm39) |
|
probably null |
Het |
Stk31 |
A |
C |
6: 49,394,278 (GRCm39) |
R213S |
probably benign |
Het |
Tmod4 |
A |
T |
3: 95,035,617 (GRCm39) |
Q255L |
probably benign |
Het |
Tnpo1 |
T |
A |
13: 99,027,282 (GRCm39) |
Y3F |
probably benign |
Het |
Tom1l1 |
A |
C |
11: 90,552,587 (GRCm39) |
Y206* |
probably null |
Het |
Tulp2 |
A |
G |
7: 45,164,116 (GRCm39) |
K36E |
probably damaging |
Het |
Tulp4 |
C |
T |
17: 6,252,094 (GRCm39) |
R282C |
probably damaging |
Het |
Unc5b |
A |
T |
10: 60,614,110 (GRCm39) |
N246K |
possibly damaging |
Het |
Ush2a |
C |
G |
1: 188,268,567 (GRCm39) |
S1674R |
possibly damaging |
Het |
Vmn1r224 |
T |
C |
17: 20,640,083 (GRCm39) |
I220T |
probably benign |
Het |
Vmn1r7 |
G |
C |
6: 57,001,404 (GRCm39) |
N285K |
probably benign |
Het |
Vmn2r83 |
C |
T |
10: 79,313,688 (GRCm39) |
P99S |
probably damaging |
Het |
Zbtb38 |
A |
G |
9: 96,569,282 (GRCm39) |
F601L |
probably benign |
Het |
Zc3h3 |
A |
T |
15: 75,681,417 (GRCm39) |
S555T |
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 |
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'- GCCATCACTAATTAGAGCATCTGG -3'
(R):5'- AAGGAGGTTCCATCAAGCCC -3'
Sequencing Primer
(F):5'- GGCTCAGTGCTCTAATTAAAAACTCC -3'
(R):5'- AGGTTCCATCAAGCCCTGCAG -3'
|
Posted On |
2018-03-15 |