Incidental Mutation 'R9145:Map4'
ID |
694575 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map4
|
Ensembl Gene |
ENSMUSG00000032479 |
Gene Name |
microtubule-associated protein 4 |
Synonyms |
MAP 4, Mtap4 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9145 (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 T
at 109855268 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 131
(Q131L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035055
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035055]
[ENSMUST00000165876]
|
AlphaFold |
P27546 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035055
AA Change: Q131L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000035055 Gene: ENSMUSG00000032479 AA Change: Q131L
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 damaging
Transcript: ENSMUST00000165876
AA Change: Q131L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000132662 Gene: ENSMUSG00000032479 AA Change: Q131L
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (79/79) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
A |
6: 128,536,032 (GRCm39) |
H720L |
probably benign |
Het |
Abca15 |
T |
C |
7: 119,987,388 (GRCm39) |
Y1225H |
probably benign |
Het |
Adck1 |
C |
A |
12: 88,335,193 (GRCm39) |
N26K |
probably benign |
Het |
Adcy3 |
A |
G |
12: 4,245,208 (GRCm39) |
D382G |
probably damaging |
Het |
Ahi1 |
T |
A |
10: 20,876,488 (GRCm39) |
C800S |
probably benign |
Het |
Ahnak |
G |
T |
19: 8,992,287 (GRCm39) |
V4524L |
probably benign |
Het |
Aoc1l1 |
C |
A |
6: 48,952,890 (GRCm39) |
R272S |
probably benign |
Het |
Apol11a |
C |
T |
15: 77,397,778 (GRCm39) |
A43V |
probably benign |
Het |
Arid1a |
T |
C |
4: 133,421,214 (GRCm39) |
M479V |
unknown |
Het |
Atp13a2 |
T |
A |
4: 140,724,056 (GRCm39) |
C324S |
probably damaging |
Het |
C2cd2 |
T |
G |
16: 97,677,486 (GRCm39) |
T413P |
probably damaging |
Het |
Cct5 |
A |
C |
15: 31,591,107 (GRCm39) |
D531E |
|
Het |
Chst1 |
A |
T |
2: 92,444,523 (GRCm39) |
I332F |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,527,344 (GRCm39) |
V2662D |
probably benign |
Het |
Cts3 |
A |
G |
13: 61,712,800 (GRCm39) |
Y307H |
probably benign |
Het |
D630023F18Rik |
G |
A |
1: 65,160,371 (GRCm39) |
|
probably benign |
Het |
Dhx9 |
A |
G |
1: 153,336,826 (GRCm39) |
I807T |
probably damaging |
Het |
Exoc3l4 |
T |
C |
12: 111,388,586 (GRCm39) |
L25P |
probably benign |
Het |
Ggcx |
T |
A |
6: 72,402,905 (GRCm39) |
C288S |
probably benign |
Het |
Gjb3 |
A |
G |
4: 127,220,140 (GRCm39) |
Y131H |
probably damaging |
Het |
Hdhd3 |
A |
G |
4: 62,417,574 (GRCm39) |
S201P |
probably benign |
Het |
Helz2 |
A |
T |
2: 180,881,848 (GRCm39) |
V315E |
probably damaging |
Het |
Hsp90aa1 |
A |
G |
12: 110,662,684 (GRCm39) |
|
probably null |
Het |
Ift70a1 |
A |
T |
2: 75,810,423 (GRCm39) |
Y553* |
probably null |
Het |
Il12a |
C |
T |
3: 68,598,875 (GRCm39) |
R19W |
unknown |
Het |
Isoc1 |
C |
T |
18: 58,806,347 (GRCm39) |
A219V |
possibly damaging |
Het |
Jup |
T |
A |
11: 100,269,124 (GRCm39) |
T430S |
probably benign |
Het |
Klra5 |
C |
T |
6: 129,886,911 (GRCm39) |
C39Y |
probably benign |
Het |
Mau2 |
T |
A |
8: 70,480,165 (GRCm39) |
K314M |
probably damaging |
Het |
Mga |
A |
G |
2: 119,794,493 (GRCm39) |
M2726V |
probably benign |
Het |
Mgme1 |
G |
A |
2: 144,114,405 (GRCm39) |
|
probably null |
Het |
Msrb2 |
A |
G |
2: 19,399,066 (GRCm39) |
E143G |
probably benign |
Het |
Muc5b |
G |
T |
7: 141,411,350 (GRCm39) |
C1432F |
unknown |
Het |
Naglu |
T |
C |
11: 100,961,940 (GRCm39) |
Y138H |
probably damaging |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nlrp1b |
A |
G |
11: 71,109,193 (GRCm39) |
Y103H |
probably benign |
Het |
Nodal |
A |
G |
10: 61,259,459 (GRCm39) |
N299D |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,349,587 (GRCm39) |
T2518A |
probably benign |
Het |
Nr2e1 |
A |
C |
10: 42,448,948 (GRCm39) |
S97A |
probably benign |
Het |
Nuak1 |
A |
T |
10: 84,210,587 (GRCm39) |
S500R |
probably benign |
Het |
Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
Nyap1 |
T |
C |
5: 137,736,175 (GRCm39) |
E104G |
probably benign |
Het |
Or3a1b |
C |
T |
11: 74,012,526 (GRCm39) |
T137I |
probably benign |
Het |
Or52e18 |
T |
A |
7: 104,609,204 (GRCm39) |
H245L |
probably damaging |
Het |
Palld |
T |
C |
8: 62,330,107 (GRCm39) |
T257A |
probably benign |
Het |
Pcnx4 |
C |
T |
12: 72,603,043 (GRCm39) |
P435L |
probably damaging |
Het |
Piezo1 |
T |
C |
8: 123,208,753 (GRCm39) |
T2538A |
unknown |
Het |
Plagl1 |
T |
C |
10: 13,003,872 (GRCm39) |
L380P |
unknown |
Het |
Polrmt |
G |
T |
10: 79,576,415 (GRCm39) |
Q514K |
probably benign |
Het |
Psg17 |
T |
G |
7: 18,553,851 (GRCm39) |
D133A |
probably benign |
Het |
Rab3b |
G |
A |
4: 108,797,903 (GRCm39) |
D185N |
probably benign |
Het |
Ranbp2 |
T |
A |
10: 58,291,736 (GRCm39) |
S248T |
probably benign |
Het |
Rdh10 |
C |
A |
1: 16,199,430 (GRCm39) |
A212D |
probably damaging |
Het |
Rinl |
A |
G |
7: 28,495,089 (GRCm39) |
H154R |
|
Het |
Selenbp1 |
T |
C |
3: 94,851,414 (GRCm39) |
M389T |
probably benign |
Het |
Serpina1c |
T |
A |
12: 103,862,400 (GRCm39) |
H305L |
possibly damaging |
Het |
Sh3rf2 |
T |
A |
18: 42,282,746 (GRCm39) |
S467T |
|
Het |
Sipa1l1 |
A |
G |
12: 82,443,335 (GRCm39) |
D875G |
probably benign |
Het |
Slc10a6 |
A |
T |
5: 103,776,800 (GRCm39) |
V100D |
probably damaging |
Het |
Slc13a4 |
T |
C |
6: 35,247,290 (GRCm39) |
I577V |
possibly damaging |
Het |
Slc20a2 |
T |
C |
8: 23,030,447 (GRCm39) |
F168L |
probably benign |
Het |
Slc25a1 |
A |
T |
16: 17,745,108 (GRCm39) |
|
probably null |
Het |
Slc5a12 |
A |
G |
2: 110,471,242 (GRCm39) |
S495G |
probably benign |
Het |
Smpdl3a |
A |
G |
10: 57,677,028 (GRCm39) |
D42G |
possibly damaging |
Het |
Spag16 |
G |
C |
1: 70,420,459 (GRCm39) |
L482F |
probably damaging |
Het |
Susd5 |
G |
A |
9: 113,925,289 (GRCm39) |
G391R |
probably damaging |
Het |
Sync |
G |
T |
4: 129,187,618 (GRCm39) |
A217S |
|
Het |
Tha1 |
T |
A |
11: 117,759,512 (GRCm39) |
N326Y |
probably damaging |
Het |
Tjp1 |
A |
T |
7: 64,952,564 (GRCm39) |
F1590Y |
probably benign |
Het |
Tle4 |
T |
C |
19: 14,445,583 (GRCm39) |
N221S |
probably benign |
Het |
Tln1 |
T |
C |
4: 43,536,024 (GRCm39) |
T2054A |
probably damaging |
Het |
Ttll4 |
A |
G |
1: 74,718,949 (GRCm39) |
K267E |
probably benign |
Het |
Usp32 |
C |
T |
11: 84,913,118 (GRCm39) |
G930D |
probably damaging |
Het |
Vmn2r75 |
T |
C |
7: 85,813,447 (GRCm39) |
N452D |
probably damaging |
Het |
Vmn2r81 |
T |
C |
10: 79,104,028 (GRCm39) |
L217P |
possibly damaging |
Het |
Wnt2 |
T |
A |
6: 18,030,397 (GRCm39) |
|
probably benign |
Het |
Zfp459 |
C |
T |
13: 67,556,735 (GRCm39) |
S116N |
probably benign |
Het |
Zfp981 |
C |
A |
4: 146,622,410 (GRCm39) |
T445N |
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 |
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 |
|
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'- TCATTCTTGACCAGGGAGTACC -3'
(R):5'- TAATGTTGAGTGCTTCTAAGGAAGG -3'
Sequencing Primer
(F):5'- TGCTAATCTCAGCATTCCAGGAGG -3'
(R):5'- CCCTGTAATTGCAGCTTGTTGAAAG -3'
|
Posted On |
2022-01-20 |