Incidental Mutation 'R5602:Map4'
ID |
439088 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map4
|
Ensembl Gene |
ENSMUSG00000032479 |
Gene Name |
microtubule-associated protein 4 |
Synonyms |
MAP 4, Mtap4 |
MMRRC Submission |
043154-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5602 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
109760528-109913023 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 109881768 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 211
(S211P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035055]
[ENSMUST00000164930]
[ENSMUST00000165876]
[ENSMUST00000199498]
|
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: ENSMUST00000163190
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164930
AA Change: S211P
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131285 Gene: ENSMUSG00000032479 AA Change: S211P
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
17 |
N/A |
INTRINSIC |
low complexity region
|
324 |
341 |
N/A |
INTRINSIC |
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
low complexity region
|
506 |
521 |
N/A |
INTRINSIC |
low complexity region
|
567 |
589 |
N/A |
INTRINSIC |
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
low complexity region
|
726 |
736 |
N/A |
INTRINSIC |
Pfam:Tubulin-binding
|
743 |
773 |
6e-16 |
PFAM |
Pfam:Tubulin-binding
|
774 |
804 |
4.5e-19 |
PFAM |
Pfam:Tubulin-binding
|
805 |
835 |
2.3e-18 |
PFAM |
Pfam:Tubulin-binding
|
836 |
867 |
1.6e-11 |
PFAM |
low complexity region
|
902 |
917 |
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: ENSMUST00000199498
AA Change: S211P
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142439 Gene: ENSMUSG00000032479 AA Change: S211P
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
17 |
N/A |
INTRINSIC |
low complexity region
|
324 |
341 |
N/A |
INTRINSIC |
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
low complexity region
|
506 |
521 |
N/A |
INTRINSIC |
low complexity region
|
567 |
589 |
N/A |
INTRINSIC |
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
low complexity region
|
726 |
736 |
N/A |
INTRINSIC |
Pfam:Tubulin-binding
|
743 |
773 |
5.8e-16 |
PFAM |
Pfam:Tubulin-binding
|
774 |
804 |
2.2e-18 |
PFAM |
Pfam:Tubulin-binding
|
805 |
836 |
1.6e-11 |
PFAM |
low complexity region
|
871 |
886 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
G |
A |
2: 151,315,459 (GRCm39) |
S73F |
possibly damaging |
Het |
4932414N04Rik |
A |
T |
2: 68,578,712 (GRCm39) |
*753L |
probably null |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adam19 |
T |
C |
11: 46,027,142 (GRCm39) |
S592P |
probably benign |
Het |
Adamtsl3 |
A |
G |
7: 82,206,447 (GRCm39) |
K843R |
possibly damaging |
Het |
Ap2a2 |
A |
T |
7: 141,184,855 (GRCm39) |
T213S |
probably benign |
Het |
Asb5 |
A |
G |
8: 55,038,974 (GRCm39) |
E280G |
probably benign |
Het |
Becn1 |
T |
C |
11: 101,179,778 (GRCm39) |
D403G |
probably damaging |
Het |
Ccr7 |
G |
T |
11: 99,036,315 (GRCm39) |
N202K |
probably benign |
Het |
Cd36 |
T |
C |
5: 18,019,790 (GRCm39) |
T104A |
possibly damaging |
Het |
Cnot4 |
C |
T |
6: 35,028,464 (GRCm39) |
W384* |
probably null |
Het |
Col15a1 |
G |
A |
4: 47,312,087 (GRCm39) |
V1301M |
probably damaging |
Het |
Dock2 |
C |
A |
11: 34,204,391 (GRCm39) |
A1384S |
probably benign |
Het |
Ehbp1l1 |
T |
C |
19: 5,758,698 (GRCm39) |
E1648G |
possibly damaging |
Het |
Fbn1 |
G |
T |
2: 125,163,661 (GRCm39) |
A2065E |
possibly damaging |
Het |
Fras1 |
A |
G |
5: 96,884,880 (GRCm39) |
Y2586C |
probably damaging |
Het |
Galm |
T |
A |
17: 80,457,568 (GRCm39) |
Y28* |
probably null |
Het |
Ggt7 |
A |
G |
2: 155,332,919 (GRCm39) |
V648A |
possibly damaging |
Het |
Gm17067 |
T |
A |
7: 42,357,839 (GRCm39) |
D221V |
probably damaging |
Het |
Gpr3 |
T |
C |
4: 132,937,805 (GRCm39) |
N289S |
probably damaging |
Het |
Ighv11-2 |
A |
G |
12: 114,012,277 (GRCm39) |
|
probably benign |
Het |
Ighv11-2 |
G |
A |
12: 114,012,099 (GRCm39) |
L39F |
probably damaging |
Het |
Ipo9 |
G |
A |
1: 135,329,983 (GRCm39) |
L486F |
probably damaging |
Het |
Jak2 |
T |
A |
19: 29,275,739 (GRCm39) |
N726K |
probably benign |
Het |
Mlh1 |
A |
T |
9: 111,081,946 (GRCm39) |
L259Q |
probably damaging |
Het |
Naa25 |
A |
G |
5: 121,558,558 (GRCm39) |
E300G |
probably benign |
Het |
Or8g34 |
A |
T |
9: 39,373,326 (GRCm39) |
M200L |
probably benign |
Het |
Or8g54 |
T |
A |
9: 39,707,490 (GRCm39) |
V273E |
possibly damaging |
Het |
Parva |
G |
A |
7: 112,166,972 (GRCm39) |
V182I |
probably benign |
Het |
Pcdhgb4 |
T |
C |
18: 37,854,697 (GRCm39) |
I364T |
probably damaging |
Het |
Pdik1l |
A |
G |
4: 134,011,580 (GRCm39) |
S164P |
probably damaging |
Het |
Pfas |
A |
T |
11: 68,881,871 (GRCm39) |
I938N |
probably benign |
Het |
Plscr1l1 |
G |
A |
9: 92,234,721 (GRCm39) |
C152Y |
possibly damaging |
Het |
Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
Prob1 |
C |
T |
18: 35,787,079 (GRCm39) |
V392M |
possibly damaging |
Het |
Rasgrf1 |
T |
C |
9: 89,793,624 (GRCm39) |
S134P |
possibly damaging |
Het |
Rorb |
T |
A |
19: 18,955,301 (GRCm39) |
Y20F |
probably damaging |
Het |
Rsph9 |
G |
T |
17: 46,445,909 (GRCm39) |
D220E |
probably damaging |
Het |
Safb2 |
C |
A |
17: 56,882,630 (GRCm39) |
K334N |
possibly damaging |
Het |
Sall3 |
T |
C |
18: 81,016,027 (GRCm39) |
T634A |
probably benign |
Het |
Scaf1 |
A |
G |
7: 44,657,007 (GRCm39) |
|
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,221,255 (GRCm39) |
|
probably benign |
Het |
Spata21 |
C |
T |
4: 140,824,210 (GRCm39) |
R158C |
probably benign |
Het |
Srrm2 |
G |
A |
17: 24,038,311 (GRCm39) |
|
probably benign |
Het |
Stk38l |
C |
A |
6: 146,659,998 (GRCm39) |
T10N |
probably benign |
Het |
Supv3l1 |
G |
A |
10: 62,266,371 (GRCm39) |
P602S |
possibly damaging |
Het |
Timm44 |
C |
T |
8: 4,316,769 (GRCm39) |
|
probably null |
Het |
Tll2 |
T |
A |
19: 41,093,420 (GRCm39) |
R465S |
possibly damaging |
Het |
Tmem104 |
G |
A |
11: 115,095,950 (GRCm39) |
A164T |
probably damaging |
Het |
Tmem151b |
A |
G |
17: 45,856,526 (GRCm39) |
S305P |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,625,839 (GRCm39) |
D114G |
probably damaging |
Het |
Vmn2r109 |
A |
T |
17: 20,760,933 (GRCm39) |
M808K |
possibly damaging |
Het |
Washc2 |
T |
A |
6: 116,225,056 (GRCm39) |
D801E |
possibly damaging |
Het |
Xkr4 |
T |
C |
1: 3,286,751 (GRCm39) |
I480V |
probably benign |
Het |
Zfp507 |
G |
T |
7: 35,475,663 (GRCm39) |
S58* |
probably null |
Het |
Zfp768 |
T |
A |
7: 126,943,804 (GRCm39) |
D108V |
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 |
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'- AAGCAGCTACAGTTCAGGG -3'
(R):5'- ACTTGGTCAAGCATAGGCCC -3'
Sequencing Primer
(F):5'- CTACAGTTCAGGGGAAGGTGGC -3'
(R):5'- TCAGAAGACCTTAATTTCTCCAACTC -3'
|
Posted On |
2016-10-26 |