Incidental Mutation 'R3547:Map4'
ID 472994
Institutional Source Beutler Lab
Gene Symbol Map4
Ensembl Gene ENSMUSG00000032479
Gene Name microtubule-associated protein 4
Synonyms MAP 4, Mtap4
MMRRC Submission 040666-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3547 (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 A at 109881266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 43 (F43L)
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

DomainStartEndE-ValueType
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: ENSMUST00000164930
AA Change: F43L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000131285
Gene: ENSMUSG00000032479
AA Change: F43L

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: F43L

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142439
Gene: ENSMUSG00000032479
AA Change: F43L

DomainStartEndE-ValueType
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: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg5 A G 3: 54,656,736 (GRCm39) R316G probably benign Het
Anapc1 T C 2: 128,484,602 (GRCm39) N1121D possibly damaging Het
Antxr2 A T 5: 98,125,516 (GRCm39) I247N probably benign Het
Arid5b C T 10: 67,934,292 (GRCm39) G294S probably benign Het
Arl9 A G 5: 77,158,326 (GRCm39) D136G probably benign Het
Atxn1l A G 8: 110,458,981 (GRCm39) L427P possibly damaging Het
Celf3 T G 3: 94,395,845 (GRCm39) C304G probably damaging Het
Clcc1 T A 3: 108,575,429 (GRCm39) C169S probably benign Het
Clec4a3 A G 6: 122,941,239 (GRCm39) E78G probably damaging Het
Clip1 A G 5: 123,769,141 (GRCm39) L532P probably damaging Het
Col12a1 T G 9: 79,540,698 (GRCm39) K2429T probably damaging Het
Col20a1 G T 2: 180,636,704 (GRCm39) E228D probably damaging Het
Cx3cl1 A C 8: 95,504,752 (GRCm39) E56A possibly damaging Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Fap A C 2: 62,349,355 (GRCm39) L478R probably damaging Het
Fhit T C 14: 9,870,095 (GRCm38) T125A probably benign Het
Gdi1 T A X: 73,351,414 (GRCm39) F175L possibly damaging Het
Golga7b T C 19: 42,255,510 (GRCm39) M129T possibly damaging Het
Gpr149 A T 3: 62,502,549 (GRCm39) C436S probably benign Het
Grid2 T C 6: 64,297,005 (GRCm39) V456A probably damaging Het
Gstcd G T 3: 132,790,599 (GRCm39) T56K possibly damaging Het
Hydin G A 8: 111,308,699 (GRCm39) G3995D possibly damaging Het
Igkv4-50 G A 6: 69,677,765 (GRCm39) T113I probably benign Het
Igkv5-43 A G 6: 69,753,240 (GRCm39) probably benign Het
Igsf10 G A 3: 59,237,962 (GRCm39) H740Y probably benign Het
Igsf10 C A 3: 59,243,935 (GRCm39) R133L probably damaging Het
Lcmt1 A G 7: 122,999,702 (GRCm39) E94G probably benign Het
Lrp1b A T 2: 40,490,300 (GRCm39) L287H probably damaging Het
Ly6m C A 15: 74,753,463 (GRCm39) A18S probably null Het
Map3k3 C T 11: 106,033,379 (GRCm39) Q211* probably null Het
Mcf2 T C X: 59,180,806 (GRCm39) K74R probably damaging Het
Mylk G A 16: 34,700,538 (GRCm39) V460I possibly damaging Het
Nat1 A G 8: 67,943,684 (GRCm39) D23G possibly damaging Het
Nbeal1 T C 1: 60,317,939 (GRCm39) F1959L probably damaging Het
Ncf1 T A 5: 134,255,463 (GRCm39) K143* probably null Het
Nlrp6 T G 7: 140,506,682 (GRCm39) V849G probably benign Het
Or52b3 A G 7: 102,203,677 (GRCm39) Y62C probably damaging Het
Pi4k2a C T 19: 42,078,987 (GRCm39) P16L probably benign Het
Pitx3 T A 19: 46,124,548 (GRCm39) Q273L possibly damaging Het
Ppp1r27 T A 11: 120,441,511 (GRCm39) I90F probably damaging Het
Prickle2 T C 6: 92,388,118 (GRCm39) Y428C probably damaging Het
Prkcq A G 2: 11,288,627 (GRCm39) K527E probably benign Het
Prune2 T A 19: 17,101,712 (GRCm39) S2405R probably damaging Het
Reln A G 5: 22,432,598 (GRCm39) V134A possibly damaging Het
Rnf167 T C 11: 70,540,507 (GRCm39) I129T possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfxn2 T C 19: 46,578,635 (GRCm39) S217P probably damaging Het
Slc16a7 T A 10: 125,130,569 (GRCm39) K39* probably null Het
Slc22a17 A G 14: 55,144,694 (GRCm39) L573P probably damaging Het
Slc25a45 T C 19: 5,934,574 (GRCm39) Y181H probably damaging Het
Slc6a20a A G 9: 123,489,567 (GRCm39) S159P probably damaging Het
Tbc1d1 G A 5: 64,443,350 (GRCm39) R523Q probably damaging Het
Thnsl1 T G 2: 21,217,438 (GRCm39) D397E probably benign Het
Ttn T A 2: 76,575,450 (GRCm39) I25148F probably damaging Het
Ube4b T C 4: 149,419,573 (GRCm39) D1045G probably damaging Het
Ugt8a A T 3: 125,661,031 (GRCm39) L487* probably null Het
Uprt T A X: 103,526,934 (GRCm39) L123H probably damaging Het
Usp9x T C X: 12,994,629 (GRCm39) L940P probably benign Het
Utp20 T C 10: 88,618,551 (GRCm39) K1150E probably damaging Het
Uty A C Y: 1,158,512 (GRCm39) D463E possibly damaging Het
Vmn1r7 A G 6: 57,001,834 (GRCm39) I142T possibly damaging Het
Vps13d T G 4: 144,801,545 (GRCm39) T3558P probably damaging Het
Zfp319 A G 8: 96,055,445 (GRCm39) S253P probably damaging Het
Zfp831 A G 2: 174,499,476 (GRCm39) S1265G probably benign Het
Other mutations in Map4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Posted On 2017-04-14