Incidental Mutation 'R7141:Map4'
| ID |
553345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map4
|
| Ensembl Gene |
ENSMUSG00000032479 |
| Gene Name |
microtubule-associated protein 4 |
| Synonyms |
MAP 4, Mtap4 |
| MMRRC Submission |
045221-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7141 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
109760528-109913023 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to C
at 109807938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035055]
[ENSMUST00000165876]
[ENSMUST00000169851]
|
| AlphaFold |
P27546 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035055
AA Change: M1T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035055
Gene: ENSMUSG00000032479
AA Change: M1T
| 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 null
Transcript: ENSMUST00000165876
AA Change: M1T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132662
Gene: ENSMUSG00000032479
AA Change: M1T
| 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 |
probably null
Transcript: ENSMUST00000169851
AA Change: M1T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.9364 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (56/56) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
C |
1: 74,323,270 (GRCm39) |
|
probably null |
Het |
| Abhd10 |
C |
T |
16: 45,563,169 (GRCm39) |
R29Q |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,640,620 (GRCm39) |
Y3369H |
probably benign |
Het |
| Agl |
A |
G |
3: 116,546,935 (GRCm39) |
I1305T |
probably benign |
Het |
| Apba3 |
A |
G |
10: 81,108,889 (GRCm39) |
I551V |
probably damaging |
Het |
| Appbp2 |
A |
T |
11: 85,082,577 (GRCm39) |
Y551* |
probably null |
Het |
| Btbd17 |
T |
C |
11: 114,682,641 (GRCm39) |
N357S |
possibly damaging |
Het |
| Casp2 |
T |
C |
6: 42,257,329 (GRCm39) |
F426S |
possibly damaging |
Het |
| Cdh5 |
A |
G |
8: 104,839,633 (GRCm39) |
N35D |
probably benign |
Het |
| Cep350 |
G |
T |
1: 155,790,494 (GRCm39) |
Q1354K |
probably damaging |
Het |
| Cep44 |
A |
G |
8: 56,992,886 (GRCm39) |
C243R |
probably damaging |
Het |
| Chst4 |
A |
T |
8: 110,757,471 (GRCm39) |
S131T |
probably damaging |
Het |
| Cox15 |
T |
C |
19: 43,725,186 (GRCm39) |
N406D |
probably benign |
Het |
| Cttnbp2 |
C |
T |
6: 18,380,467 (GRCm39) |
R1467H |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,158,984 (GRCm39) |
D1714G |
probably null |
Het |
| Erbb2 |
G |
T |
11: 98,318,135 (GRCm39) |
R457L |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,203,493 (GRCm39) |
N463S |
probably benign |
Het |
| Fam171a1 |
C |
T |
2: 3,226,189 (GRCm39) |
Q441* |
probably null |
Het |
| Fam186b |
T |
A |
15: 99,181,773 (GRCm39) |
M142L |
probably benign |
Het |
| Git2 |
G |
T |
5: 114,907,759 (GRCm39) |
C35* |
probably null |
Het |
| Gm21103 |
T |
G |
14: 17,482,795 (GRCm39) |
Q202P |
probably damaging |
Het |
| Gm5622 |
G |
T |
14: 51,893,339 (GRCm39) |
E89* |
probably null |
Het |
| Hmcn2 |
C |
A |
2: 31,250,908 (GRCm39) |
T790K |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,279,427 (GRCm39) |
L3114H |
probably damaging |
Het |
| Igkv3-10 |
A |
T |
6: 70,549,965 (GRCm39) |
Q37L |
possibly damaging |
Het |
| Kcp |
G |
T |
6: 29,487,511 (GRCm39) |
Y1106* |
probably null |
Het |
| Khsrp |
T |
C |
17: 57,332,602 (GRCm39) |
D226G |
possibly damaging |
Het |
| Klre1 |
T |
A |
6: 129,560,129 (GRCm39) |
W134R |
probably damaging |
Het |
| Lrrc66 |
A |
G |
5: 73,787,320 (GRCm39) |
I10T |
probably benign |
Het |
| Met |
T |
A |
6: 17,527,154 (GRCm39) |
I535K |
probably benign |
Het |
| Mmut |
T |
C |
17: 41,263,730 (GRCm39) |
V500A |
possibly damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,435 (GRCm39) |
V159A |
possibly damaging |
Het |
| Mrpl41 |
A |
G |
2: 24,864,468 (GRCm39) |
L68P |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,491,439 (GRCm39) |
W135R |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,692,965 (GRCm39) |
D1420G |
probably benign |
Het |
| Naglu |
A |
C |
11: 100,963,056 (GRCm39) |
D229A |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Ncln |
G |
T |
10: 81,323,683 (GRCm39) |
Y517* |
probably null |
Het |
| Nr1h4 |
G |
A |
10: 89,334,091 (GRCm39) |
R100* |
probably null |
Het |
| Or5k1 |
G |
A |
16: 58,617,771 (GRCm39) |
T146M |
probably benign |
Het |
| P2rx5 |
A |
T |
11: 73,051,474 (GRCm39) |
T18S |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,729,271 (GRCm39) |
S2710P |
unknown |
Het |
| Pdhx |
A |
T |
2: 102,903,659 (GRCm39) |
F46I |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,278,181 (GRCm39) |
L241* |
probably null |
Het |
| Pitpnm1 |
G |
A |
19: 4,152,787 (GRCm39) |
V65M |
probably damaging |
Het |
| Rgs3 |
A |
G |
4: 62,608,724 (GRCm39) |
D330G |
probably damaging |
Het |
| Scaf8 |
T |
C |
17: 3,209,457 (GRCm39) |
V60A |
unknown |
Het |
| Sema4c |
A |
G |
1: 36,592,101 (GRCm39) |
Y249H |
probably damaging |
Het |
| Spp2 |
T |
C |
1: 88,335,050 (GRCm39) |
Y27H |
probably damaging |
Het |
| Sugct |
T |
A |
13: 17,819,372 (GRCm39) |
I158F |
possibly damaging |
Het |
| Sympk |
A |
T |
7: 18,788,017 (GRCm39) |
I1178F |
probably benign |
Het |
| Tmppe |
T |
C |
9: 114,234,036 (GRCm39) |
Y112H |
probably benign |
Het |
| Trp53bp2 |
A |
G |
1: 182,276,073 (GRCm39) |
T187A |
|
Het |
| Tspoap1 |
A |
G |
11: 87,665,523 (GRCm39) |
S754G |
probably damaging |
Het |
| Vmn1r214 |
C |
T |
13: 23,218,839 (GRCm39) |
A111V |
probably benign |
Het |
| Vmn2r70 |
G |
C |
7: 85,208,044 (GRCm39) |
S811C |
probably benign |
Het |
| Zfp638 |
T |
C |
6: 83,844,181 (GRCm39) |
S15P |
unknown |
Het |
| Zfp763 |
A |
G |
17: 33,237,769 (GRCm39) |
S459P |
probably 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 |
|
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'- TGTGAATTGTGTCGGCCAC -3'
(R):5'- AACCTGGCTAGTGTCTAAGCAG -3'
Sequencing Primer
(F):5'- TGTCGGCCACAGTGGTG -3'
(R):5'- TGGACTCTGAGTTCCCGG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation