Incidental Mutation 'R6017:Map4'
| ID |
478652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map4
|
| Ensembl Gene |
ENSMUSG00000032479 |
| Gene Name |
microtubule-associated protein 4 |
| Synonyms |
MAP 4, Mtap4 |
| MMRRC Submission |
044191-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6017 (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 109863687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 304
(L304P)
|
| 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: L304P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000035055
Gene: ENSMUSG00000032479
AA Change: L304P
| 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: L304P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132662
Gene: ENSMUSG00000032479
AA Change: L304P
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
| Validation Efficiency |
97% (62/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,325,780 (GRCm39) |
I56M |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,545,542 (GRCm39) |
L5581* |
probably null |
Het |
| Arpc2 |
C |
A |
1: 74,301,645 (GRCm39) |
H193N |
probably benign |
Het |
| B3galt5 |
A |
G |
16: 96,116,384 (GRCm39) |
T6A |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,976,103 (GRCm39) |
V1737E |
probably benign |
Het |
| Cacfd1 |
T |
G |
2: 26,903,440 (GRCm39) |
|
probably benign |
Het |
| Cdc42ep4 |
A |
T |
11: 113,620,192 (GRCm39) |
D66E |
probably benign |
Het |
| Cldn1 |
G |
T |
16: 26,181,969 (GRCm39) |
T80N |
probably damaging |
Het |
| Cmtm1 |
C |
A |
8: 105,037,583 (GRCm39) |
|
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,411,693 (GRCm39) |
I526F |
probably benign |
Het |
| Copb1 |
T |
C |
7: 113,836,032 (GRCm39) |
K450E |
probably benign |
Het |
| Crebrf |
A |
C |
17: 26,976,823 (GRCm39) |
I416L |
probably benign |
Het |
| Csmd3 |
C |
A |
15: 48,177,408 (GRCm39) |
V377F |
possibly damaging |
Het |
| Cyp1a2 |
T |
C |
9: 57,588,313 (GRCm39) |
K304E |
probably damaging |
Het |
| Cyp2d26 |
A |
G |
15: 82,674,774 (GRCm39) |
S403P |
possibly damaging |
Het |
| Cyp4a12a |
T |
A |
4: 115,183,476 (GRCm39) |
C198* |
probably null |
Het |
| Ddx11 |
A |
G |
17: 66,437,012 (GRCm39) |
D102G |
|
Het |
| Dpys |
T |
A |
15: 39,710,114 (GRCm39) |
Q105L |
probably null |
Het |
| Dsn1 |
C |
A |
2: 156,838,162 (GRCm39) |
R334L |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,659,054 (GRCm39) |
H867N |
probably damaging |
Het |
| Ephb3 |
T |
C |
16: 21,040,781 (GRCm39) |
L643P |
probably damaging |
Het |
| Fbxo44 |
G |
T |
4: 148,243,010 (GRCm39) |
H83Q |
probably benign |
Het |
| Gm13102 |
T |
C |
4: 143,835,807 (GRCm39) |
Y477H |
possibly damaging |
Het |
| Gm7347 |
T |
C |
5: 26,262,276 (GRCm39) |
T82A |
probably benign |
Het |
| Gss |
C |
A |
2: 155,429,385 (GRCm39) |
A36S |
probably benign |
Het |
| Hepacam |
A |
G |
9: 37,292,056 (GRCm39) |
D128G |
probably benign |
Het |
| Hepacam2 |
C |
A |
6: 3,483,332 (GRCm39) |
V226F |
probably damaging |
Het |
| Hgfac |
T |
C |
5: 35,201,739 (GRCm39) |
Y291H |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,674,466 (GRCm39) |
R88H |
probably benign |
Het |
| Irx5 |
T |
A |
8: 93,084,878 (GRCm39) |
Y23N |
probably damaging |
Het |
| Kcnf1 |
T |
C |
12: 17,225,082 (GRCm39) |
M380V |
probably damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,305,400 (GRCm39) |
|
probably benign |
Het |
| Kcnk12 |
T |
C |
17: 88,054,164 (GRCm39) |
E166G |
probably damaging |
Het |
| Kctd16 |
T |
C |
18: 40,391,996 (GRCm39) |
C195R |
probably damaging |
Het |
| Kif28 |
T |
A |
1: 179,527,018 (GRCm39) |
I718F |
probably benign |
Het |
| Lce1e |
T |
A |
3: 92,615,240 (GRCm39) |
K36* |
probably null |
Het |
| Mettl17 |
C |
T |
14: 52,129,074 (GRCm39) |
|
probably benign |
Het |
| Mpp4 |
T |
C |
1: 59,160,518 (GRCm39) |
D595G |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,732,349 (GRCm39) |
K1282E |
probably damaging |
Het |
| Nf2 |
A |
T |
11: 4,766,137 (GRCm39) |
V131D |
possibly damaging |
Het |
| Or7g35 |
T |
C |
9: 19,496,730 (GRCm39) |
V299A |
probably benign |
Het |
| Or8b3 |
A |
T |
9: 38,314,916 (GRCm39) |
M249L |
probably benign |
Het |
| Oxsr1 |
A |
G |
9: 119,093,843 (GRCm39) |
L270S |
probably benign |
Het |
| Plekhg2 |
G |
A |
7: 28,062,309 (GRCm39) |
T536I |
probably damaging |
Het |
| Ppp1r9a |
T |
A |
6: 4,906,363 (GRCm39) |
V306D |
probably benign |
Het |
| Ptk6 |
C |
T |
2: 180,837,605 (GRCm39) |
C438Y |
probably benign |
Het |
| Scfd1 |
T |
C |
12: 51,492,461 (GRCm39) |
V590A |
probably damaging |
Het |
| Serpina1b |
A |
G |
12: 103,695,531 (GRCm39) |
S337P |
probably damaging |
Het |
| Skor2 |
T |
A |
18: 76,946,622 (GRCm39) |
C115S |
unknown |
Het |
| Slc2a7 |
T |
C |
4: 150,249,629 (GRCm39) |
S407P |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,955,683 (GRCm39) |
S452P |
probably damaging |
Het |
| Spata31d1c |
A |
G |
13: 65,182,893 (GRCm39) |
D145G |
possibly damaging |
Het |
| Spata6 |
C |
A |
4: 111,632,024 (GRCm39) |
T145K |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,863,501 (GRCm39) |
R2087H |
probably benign |
Het |
| Stk24 |
C |
T |
14: 121,539,657 (GRCm39) |
V180M |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,781,051 (GRCm39) |
T3271A |
probably damaging |
Het |
| Tyro3 |
T |
A |
2: 119,647,147 (GRCm39) |
W755R |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,689,711 (GRCm39) |
|
probably null |
Het |
| Uts2b |
T |
C |
16: 27,179,793 (GRCm39) |
|
probably null |
Het |
| Vmn2r105 |
T |
A |
17: 20,428,889 (GRCm39) |
H729L |
probably damaging |
Het |
| Vps35l |
T |
A |
7: 118,409,144 (GRCm39) |
V635D |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 101,999,225 (GRCm39) |
I3068V |
probably benign |
Het |
| Zfp457 |
G |
A |
13: 67,441,763 (GRCm39) |
H175Y |
probably damaging |
Het |
| Zfp758 |
A |
G |
17: 22,592,712 (GRCm39) |
D40G |
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 |
|
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'- CACTGATGTGGTGCACTCTC -3'
(R):5'- AGTGAAACCATGCCCTTGG -3'
Sequencing Primer
(F):5'- GGTGCACTCTCCATCCACAG -3'
(R):5'- TAAGTAACACATCCTCAGGTGGTGC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation