Incidental Mutation 'R2512:Map4'
| ID |
253470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map4
|
| Ensembl Gene |
ENSMUSG00000032479 |
| Gene Name |
microtubule-associated protein 4 |
| Synonyms |
MAP 4, Mtap4 |
| MMRRC Submission |
040418-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2512 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
109760528-109913023 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 109863770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 332
(P332T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035055]
[ENSMUST00000165876]
|
| AlphaFold |
P27546 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035055
AA Change: P332T
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035055
Gene: ENSMUSG00000032479
AA Change: P332T
| 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: ENSMUST00000165876
AA Change: P332T
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132662
Gene: ENSMUSG00000032479
AA Change: P332T
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,219,945 (GRCm39) |
T831A |
possibly damaging |
Het |
| Actg2 |
T |
A |
6: 83,503,829 (GRCm39) |
I72F |
probably damaging |
Het |
| Add1 |
A |
G |
5: 34,774,030 (GRCm39) |
T80A |
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,483,591 (GRCm39) |
T139M |
probably damaging |
Het |
| Aplp2 |
C |
T |
9: 31,078,973 (GRCm39) |
R325H |
probably damaging |
Het |
| Aptx |
G |
A |
4: 40,694,917 (GRCm39) |
P140S |
probably benign |
Het |
| Carm1 |
A |
G |
9: 21,486,708 (GRCm39) |
|
probably null |
Het |
| Carmil2 |
A |
T |
8: 106,424,025 (GRCm39) |
I1293F |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 100,127,495 (GRCm39) |
T39A |
probably benign |
Het |
| Cimip3 |
T |
C |
17: 47,724,651 (GRCm39) |
T60A |
probably benign |
Het |
| Col15a1 |
T |
A |
4: 47,245,868 (GRCm39) |
N206K |
possibly damaging |
Het |
| Copg2 |
C |
T |
6: 30,873,591 (GRCm39) |
|
probably null |
Het |
| Ctr9 |
T |
G |
7: 110,646,078 (GRCm39) |
I690S |
probably damaging |
Het |
| Dcaf8 |
T |
G |
1: 172,016,602 (GRCm39) |
I463S |
possibly damaging |
Het |
| Dcp1b |
G |
T |
6: 119,183,473 (GRCm39) |
A187S |
possibly damaging |
Het |
| Ddo |
T |
A |
10: 40,508,935 (GRCm39) |
D58E |
possibly damaging |
Het |
| Dkkl1 |
G |
T |
7: 44,857,157 (GRCm39) |
R137S |
probably damaging |
Het |
| Dxo |
A |
G |
17: 35,056,718 (GRCm39) |
N115S |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,856,781 (GRCm39) |
|
probably benign |
Het |
| F11 |
A |
G |
8: 45,714,098 (GRCm39) |
V7A |
probably benign |
Het |
| Fermt1 |
G |
T |
2: 132,781,438 (GRCm39) |
|
probably null |
Het |
| Fign |
A |
T |
2: 63,810,143 (GRCm39) |
F376I |
probably benign |
Het |
| Flg2 |
G |
T |
3: 93,109,082 (GRCm39) |
G370V |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,793,715 (GRCm39) |
D953E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,808,511 (GRCm39) |
H1610L |
probably benign |
Het |
| Gfra3 |
T |
C |
18: 34,837,564 (GRCm39) |
N145D |
probably benign |
Het |
| Inpp4b |
G |
T |
8: 82,737,179 (GRCm39) |
W525C |
probably damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Lgi2 |
A |
G |
5: 52,695,307 (GRCm39) |
*543R |
probably null |
Het |
| Lyn |
A |
G |
4: 3,745,542 (GRCm39) |
T114A |
probably benign |
Het |
| Lynx1 |
A |
G |
15: 74,623,169 (GRCm39) |
Y88H |
probably damaging |
Het |
| Mapk8ip3 |
A |
T |
17: 25,133,677 (GRCm39) |
C250* |
probably null |
Het |
| Metap1d |
A |
G |
2: 71,352,954 (GRCm39) |
H261R |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,013,835 (GRCm39) |
V115A |
probably benign |
Het |
| Mtbp |
A |
G |
15: 55,440,932 (GRCm39) |
Y373C |
probably damaging |
Het |
| Mtor |
C |
A |
4: 148,614,948 (GRCm39) |
R1628S |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,412,813 (GRCm39) |
N1920D |
unknown |
Het |
| Myo1d |
T |
A |
11: 80,670,543 (GRCm39) |
M26L |
probably benign |
Het |
| Neb |
A |
C |
2: 52,100,843 (GRCm39) |
D643E |
probably damaging |
Het |
| Nme1 |
A |
G |
11: 93,851,513 (GRCm39) |
F108L |
possibly damaging |
Het |
| Or2r11 |
A |
G |
6: 42,437,207 (GRCm39) |
S249P |
probably damaging |
Het |
| Or8c15 |
G |
T |
9: 38,120,670 (GRCm39) |
C54F |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,140,326 (GRCm39) |
D82E |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,762,612 (GRCm39) |
D3695G |
unknown |
Het |
| Pcnx4 |
A |
T |
12: 72,603,573 (GRCm39) |
|
probably null |
Het |
| Plg |
A |
G |
17: 12,622,116 (GRCm39) |
T479A |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Pramel32 |
T |
G |
4: 88,547,195 (GRCm39) |
M246L |
probably damaging |
Het |
| Ptgis |
T |
C |
2: 167,049,196 (GRCm39) |
D372G |
probably damaging |
Het |
| Ranbp3l |
A |
G |
15: 8,997,949 (GRCm39) |
T14A |
probably benign |
Het |
| Rcc1l |
A |
T |
5: 134,195,508 (GRCm39) |
V230D |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,184,688 (GRCm39) |
D1609G |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,802,967 (GRCm39) |
L696F |
possibly damaging |
Het |
| Sacs |
T |
A |
14: 61,440,529 (GRCm39) |
D858E |
probably benign |
Het |
| Sec16a |
C |
T |
2: 26,329,037 (GRCm39) |
V993I |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,487,616 (GRCm39) |
I901F |
unknown |
Het |
| Slc17a3 |
A |
T |
13: 24,030,230 (GRCm39) |
I114F |
probably benign |
Het |
| Slc17a7 |
T |
A |
7: 44,818,288 (GRCm39) |
L71Q |
probably damaging |
Het |
| Slc43a2 |
T |
C |
11: 75,461,403 (GRCm39) |
S452P |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,546,994 (GRCm39) |
N173S |
possibly damaging |
Het |
| Tbc1d21 |
T |
C |
9: 58,270,195 (GRCm39) |
Y161C |
probably damaging |
Het |
| Tpsab1 |
C |
A |
17: 25,564,081 (GRCm39) |
C94F |
probably damaging |
Het |
| Ubr5 |
G |
A |
15: 38,002,563 (GRCm39) |
P1496L |
probably damaging |
Het |
| Unc80 |
G |
T |
1: 66,710,767 (GRCm39) |
A2679S |
possibly damaging |
Het |
| Vdac1 |
T |
A |
11: 52,274,904 (GRCm39) |
V184E |
probably damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,763,985 (GRCm39) |
S287R |
probably benign |
Het |
| Vmn2r91 |
T |
C |
17: 18,356,048 (GRCm39) |
F572L |
probably benign |
Het |
| Vps13b |
G |
A |
15: 35,884,701 (GRCm39) |
E3125K |
probably benign |
Het |
| Ythdf3 |
A |
G |
3: 16,259,059 (GRCm39) |
N406S |
possibly damaging |
Het |
| Zfp708 |
T |
C |
13: 67,219,251 (GRCm39) |
K158E |
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 |
|
|
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 |
|
|
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'- GAGATCACCAAGCCAGATGTG -3'
(R):5'- GACCACCTCTGTTTCTGAGACC -3'
Sequencing Primer
(F):5'- TCACCAAGCCAGATGTGATATTGG -3'
(R):5'- AGCCACAGGTATTTCTGCAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation