Incidental Mutation 'R7690:Map4'
| ID |
593345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map4
|
| Ensembl Gene |
ENSMUSG00000032479 |
| Gene Name |
microtubule-associated protein 4 |
| Synonyms |
MAP 4, Mtap4 |
| MMRRC Submission |
045754-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7690 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
109760528-109913023 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 109828861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 82
(T82I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035055]
[ENSMUST00000165876]
[ENSMUST00000169851]
|
| AlphaFold |
P27546 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035055
AA Change: T82I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035055
Gene: ENSMUSG00000032479
AA Change: T82I
| 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: T82I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132662
Gene: ENSMUSG00000032479
AA Change: T82I
| 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: ENSMUST00000169851
AA Change: T82I
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.0738 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (57/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,353,313 (GRCm39) |
T710S |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,522,934 (GRCm39) |
L430P |
|
Het |
| Agap1 |
T |
C |
1: 89,770,793 (GRCm39) |
S648P |
probably benign |
Het |
| Alox5 |
T |
C |
6: 116,392,417 (GRCm39) |
H368R |
probably damaging |
Het |
| Ano2 |
T |
C |
6: 125,990,161 (GRCm39) |
F761L |
probably damaging |
Het |
| Aox4 |
T |
C |
1: 58,303,076 (GRCm39) |
V1169A |
probably damaging |
Het |
| Apbb1ip |
T |
A |
2: 22,706,996 (GRCm39) |
M11K |
unknown |
Het |
| Arl5a |
G |
T |
2: 52,302,077 (GRCm39) |
H112Q |
possibly damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,376,528 (GRCm39) |
T1323I |
probably benign |
Het |
| Cmtm5 |
G |
A |
14: 55,173,938 (GRCm39) |
|
probably benign |
Het |
| Cul2 |
T |
C |
18: 3,419,420 (GRCm39) |
Y194H |
probably benign |
Het |
| Daglb |
T |
C |
5: 143,479,938 (GRCm39) |
I415T |
possibly damaging |
Het |
| Ddx28 |
A |
G |
8: 106,736,963 (GRCm39) |
V365A |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,146,063 (GRCm39) |
|
probably null |
Het |
| Eppk1 |
T |
A |
15: 75,995,946 (GRCm39) |
T312S |
probably benign |
Het |
| Erich4 |
C |
A |
7: 25,314,710 (GRCm39) |
V68L |
possibly damaging |
Het |
| Fam171a2 |
G |
A |
11: 102,328,660 (GRCm39) |
P700S |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,477 (GRCm39) |
N2175S |
probably damaging |
Het |
| Fcrl6 |
T |
G |
1: 172,426,223 (GRCm39) |
R191S |
probably damaging |
Het |
| Fpgt |
A |
G |
3: 154,793,467 (GRCm39) |
S187P |
probably damaging |
Het |
| Gapvd1 |
T |
G |
2: 34,619,134 (GRCm39) |
T80P |
possibly damaging |
Het |
| Gclm |
A |
G |
3: 122,039,705 (GRCm39) |
N24S |
probably damaging |
Het |
| Gdf15 |
A |
G |
8: 71,083,997 (GRCm39) |
I89T |
possibly damaging |
Het |
| Gpn2 |
A |
G |
4: 133,318,693 (GRCm39) |
E306G |
probably damaging |
Het |
| Iars2 |
A |
T |
1: 185,053,194 (GRCm39) |
L359Q |
probably damaging |
Het |
| Kbtbd4 |
T |
G |
2: 90,736,240 (GRCm39) |
C84G |
possibly damaging |
Het |
| Manea |
A |
G |
4: 26,327,910 (GRCm39) |
V377A |
probably benign |
Het |
| Mocos |
C |
T |
18: 24,797,082 (GRCm39) |
H81Y |
probably damaging |
Het |
| Mtx1 |
T |
A |
3: 89,120,088 (GRCm39) |
T87S |
|
Het |
| Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,161,717 (GRCm39) |
|
probably null |
Het |
| Mzt1 |
C |
T |
14: 99,278,024 (GRCm39) |
C48Y |
probably damaging |
Het |
| Nlrp9b |
C |
A |
7: 19,758,295 (GRCm39) |
P511T |
probably benign |
Het |
| Noc2l |
A |
G |
4: 156,322,088 (GRCm39) |
E135G |
probably benign |
Het |
| Nova1 |
G |
A |
12: 46,767,549 (GRCm39) |
P124L |
unknown |
Het |
| Pax8 |
T |
A |
2: 24,331,682 (GRCm39) |
T134S |
probably benign |
Het |
| Pde4a |
T |
A |
9: 21,077,300 (GRCm39) |
L26Q |
probably damaging |
Het |
| Pde6b |
G |
A |
5: 108,567,384 (GRCm39) |
E254K |
probably damaging |
Het |
| Pdlim7 |
A |
G |
13: 55,656,744 (GRCm39) |
I70T |
probably damaging |
Het |
| Pinx1 |
T |
A |
14: 64,101,660 (GRCm39) |
|
probably null |
Het |
| Pomt2 |
C |
A |
12: 87,177,141 (GRCm39) |
R352L |
probably damaging |
Het |
| Rapgef5 |
G |
A |
12: 117,685,105 (GRCm39) |
V519I |
possibly damaging |
Het |
| Rnps1 |
A |
G |
17: 24,637,168 (GRCm39) |
E16G |
unknown |
Het |
| Slc4a5 |
T |
C |
6: 83,262,854 (GRCm39) |
F782S |
probably damaging |
Het |
| Snap91 |
A |
G |
9: 86,707,031 (GRCm39) |
V253A |
possibly damaging |
Het |
| Syce3 |
T |
C |
15: 89,281,544 (GRCm39) |
M32V |
possibly damaging |
Het |
| Tcaf3 |
C |
A |
6: 42,574,069 (GRCm39) |
V48L |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,512,740 (GRCm39) |
V1366A |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,908,494 (GRCm39) |
M1382I |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,908,501 (GRCm39) |
G1385R |
probably damaging |
Het |
| Top3a |
G |
T |
11: 60,647,206 (GRCm39) |
L238I |
probably damaging |
Het |
| Trim9 |
A |
T |
12: 70,295,117 (GRCm39) |
N742K |
probably benign |
Het |
| Trp63 |
T |
A |
16: 25,695,483 (GRCm39) |
Y482N |
unknown |
Het |
| Ttc23 |
T |
G |
7: 67,319,918 (GRCm39) |
F192V |
possibly damaging |
Het |
| Uck1 |
A |
G |
2: 32,148,184 (GRCm39) |
V180A |
probably benign |
Het |
| Vwa5b1 |
G |
A |
4: 138,318,244 (GRCm39) |
T541I |
probably damaging |
Het |
| Zfp456 |
G |
T |
13: 67,514,913 (GRCm39) |
H264Q |
probably damaging |
Het |
| Zfpm2 |
T |
G |
15: 40,818,162 (GRCm39) |
V165G |
possibly damaging |
Het |
| Zup1 |
C |
T |
10: 33,806,151 (GRCm39) |
|
probably null |
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 |
|
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'- CCTTGTGGTGATAATACTGAAAGGTG -3'
(R):5'- CCATCCAATACTTGTGTGGTTCAC -3'
Sequencing Primer
(F):5'- TGATAATACTGAAAGGTGTGAGTGG -3'
(R):5'- CTTGTGTGGTTCACTTCCAATAAAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation