Incidental Mutation 'R5020:Map4'
ID 389151
Institutional Source Beutler Lab
Gene Symbol Map4
Ensembl Gene ENSMUSG00000032479
Gene Name microtubule-associated protein 4
Synonyms MAP 4, Mtap4
MMRRC Submission 042611-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5020 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 109760528-109913023 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109897868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 712 (M712V)
Ref Sequence ENSEMBL: ENSMUSP00000142439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035055] [ENSMUST00000163979] [ENSMUST00000164930] [ENSMUST00000165876] [ENSMUST00000198511] [ENSMUST00000199548] [ENSMUST00000199461] [ENSMUST00000199498] [ENSMUST00000199161]
AlphaFold P27546
Predicted Effect probably benign
Transcript: ENSMUST00000035055
AA Change: M865V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000035055
Gene: ENSMUSG00000032479
AA Change: M865V

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 unknown
Transcript: ENSMUST00000163190
AA Change: M1325V
Predicted Effect probably benign
Transcript: ENSMUST00000163979
AA Change: M154V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000129362
Gene: ENSMUSG00000032479
AA Change: M154V

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
Predicted Effect probably benign
Transcript: ENSMUST00000164930
AA Change: M712V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000131285
Gene: ENSMUSG00000032479
AA Change: M712V

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
AA Change: M865V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000132662
Gene: ENSMUSG00000032479
AA Change: M865V

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 noncoding transcript
Transcript: ENSMUST00000198185
Predicted Effect probably benign
Transcript: ENSMUST00000198511
SMART Domains Protein: ENSMUSP00000142558
Gene: ENSMUSG00000032479

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
Pfam:Tubulin-binding 24 54 7.3e-14 PFAM
Pfam:Tubulin-binding 55 85 5.3e-17 PFAM
Pfam:Tubulin-binding 86 116 2.8e-16 PFAM
Pfam:Tubulin-binding 117 148 1.9e-9 PFAM
low complexity region 183 198 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199548
AA Change: M85V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143408
Gene: ENSMUSG00000032479
AA Change: M85V

DomainStartEndE-ValueType
low complexity region 99 109 N/A INTRINSIC
Pfam:Tubulin-binding 116 146 1.1e-13 PFAM
Pfam:Tubulin-binding 147 177 7.9e-17 PFAM
Pfam:Tubulin-binding 178 208 4.1e-16 PFAM
Pfam:Tubulin-binding 209 240 2.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199461
AA Change: M85V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143296
Gene: ENSMUSG00000032479
AA Change: M85V

DomainStartEndE-ValueType
low complexity region 99 109 N/A INTRINSIC
Pfam:Tubulin-binding 116 146 1e-13 PFAM
Pfam:Tubulin-binding 147 177 3.8e-16 PFAM
Pfam:Tubulin-binding 178 209 2.6e-9 PFAM
low complexity region 244 259 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199498
AA Change: M712V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000142439
Gene: ENSMUSG00000032479
AA Change: M712V

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
Predicted Effect probably benign
Transcript: ENSMUST00000199161
SMART Domains Protein: ENSMUSP00000143205
Gene: ENSMUSG00000032479

DomainStartEndE-ValueType
Pfam:Tubulin-binding 16 46 6.7e-14 PFAM
Pfam:Tubulin-binding 47 77 4.9e-17 PFAM
Pfam:Tubulin-binding 78 108 2.5e-16 PFAM
Pfam:Tubulin-binding 109 140 1.7e-9 PFAM
low complexity region 176 191 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 99% (72/73)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb A T 7: 131,042,929 (GRCm39) probably null Het
Actl6a A G 3: 32,774,656 (GRCm39) I340V possibly damaging Het
Alppl2 C T 1: 87,017,431 (GRCm39) V19I probably benign Het
Ankrd34c T C 9: 89,611,759 (GRCm39) K194R probably benign Het
Anpep T A 7: 79,483,475 (GRCm39) M672L probably benign Het
Arhgap31 T C 16: 38,423,438 (GRCm39) D876G probably damaging Het
Arid2 T A 15: 96,269,869 (GRCm39) N1327K probably damaging Het
Atp5f1d C A 10: 79,981,263 (GRCm39) P101Q probably benign Het
Bcl7b G A 5: 135,200,017 (GRCm39) probably null Het
Brca2 A T 5: 150,483,901 (GRCm39) S2907C probably damaging Het
Ccser2 T C 14: 36,662,134 (GRCm39) E350G probably benign Het
Cdh23 G T 10: 60,143,811 (GRCm39) D2929E probably damaging Het
Clec2i T A 6: 128,870,621 (GRCm39) V78E probably benign Het
Cpxm1 A T 2: 130,237,897 (GRCm39) probably null Het
Crybg3 C T 16: 59,375,159 (GRCm39) V2032I possibly damaging Het
Eif5b A T 1: 38,058,150 (GRCm39) K151* probably null Het
Gemin7 T A 7: 19,299,348 (GRCm39) E82D possibly damaging Het
Gm14496 A G 2: 181,633,152 (GRCm39) E45G possibly damaging Het
Gm21915 T C 9: 40,581,966 (GRCm39) S20P probably damaging Het
Gm8126 A C 14: 43,119,026 (GRCm39) E165A probably damaging Het
Grin2b T C 6: 135,710,405 (GRCm39) D1047G probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Ikbke T A 1: 131,201,397 (GRCm39) Y150F probably damaging Het
Inhca T C 9: 103,159,701 (GRCm39) D70G probably benign Het
Itih5 T A 2: 10,245,315 (GRCm39) probably null Het
Lrig2 T C 3: 104,365,217 (GRCm39) Q645R possibly damaging Het
Mecom A G 3: 30,015,255 (GRCm39) S823P probably damaging Het
Mettl25 A G 10: 105,662,068 (GRCm39) Y301H possibly damaging Het
Mga A T 2: 119,781,654 (GRCm39) K2136* probably null Het
Mmp24 A G 2: 155,652,204 (GRCm39) E304G probably benign Het
Mmp3 T A 9: 7,445,984 (GRCm39) D29E probably benign Het
Nbas T A 12: 13,424,713 (GRCm39) I984N probably damaging Het
Nedd9 A G 13: 41,469,270 (GRCm39) Y628H probably damaging Het
Nlrp2 C T 7: 5,331,076 (GRCm39) C440Y probably damaging Het
Or4g16 T C 2: 111,136,637 (GRCm39) V29A probably benign Het
Or6p1 T G 1: 174,258,237 (GRCm39) L81R probably damaging Het
P4ha2 T C 11: 54,022,016 (GRCm39) V513A probably damaging Het
Pcsk4 T C 10: 80,161,869 (GRCm39) N124S probably benign Het
Phf12 T C 11: 77,914,622 (GRCm39) F139S probably damaging Het
Phlpp2 T A 8: 110,666,714 (GRCm39) L1081H probably damaging Het
Phospho2 T A 2: 69,626,323 (GRCm39) F160I probably damaging Het
Plch2 T G 4: 155,091,540 (GRCm39) D115A probably damaging Het
Plekho1 A G 3: 95,896,851 (GRCm39) F215S probably damaging Het
Psma4 C A 9: 54,860,056 (GRCm39) A47E probably damaging Het
Rasa4 A C 5: 136,130,153 (GRCm39) Q303P probably damaging Het
Rbmxl2 C T 7: 106,809,414 (GRCm39) P233L probably damaging Het
Reln A T 5: 22,239,636 (GRCm39) L877H probably damaging Het
Rtel1 A G 2: 180,964,307 (GRCm39) probably null Het
Septin12 T C 16: 4,811,620 (GRCm39) D116G probably damaging Het
Son T A 16: 91,453,263 (GRCm39) V670E probably damaging Het
Spag9 T A 11: 93,988,612 (GRCm39) I544N probably benign Het
Spsb3 T G 17: 25,106,036 (GRCm39) probably benign Het
Tcstv2c T C 13: 120,616,652 (GRCm39) F164L possibly damaging Het
Tgfbr3 T C 5: 107,362,836 (GRCm39) T59A probably damaging Het
Tsc1 T A 2: 28,566,531 (GRCm39) I649K probably damaging Het
Txndc9 T C 1: 38,034,793 (GRCm39) D37G probably benign Het
Uba7 C T 9: 107,856,113 (GRCm39) A496V probably benign Het
Usf3 T A 16: 44,035,889 (GRCm39) I123N probably damaging Het
Vmn1r184 T A 7: 25,966,955 (GRCm39) S234T possibly damaging Het
Vsig10l C A 7: 43,114,741 (GRCm39) S314* probably null Het
Wdfy4 A G 14: 32,801,892 (GRCm39) F1922S probably damaging Het
Zfp219 C T 14: 52,247,112 (GRCm39) R5H probably damaging Het
Zfp946 G T 17: 22,674,584 (GRCm39) C446F 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
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
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'- TGCCTAAGTCACCTGTTGGG -3'
(R):5'- TCTAGATGACTGCATGTGGC -3'

Sequencing Primer
(F):5'- CACCTGTTGGGAAGTCTAATGACC -3'
(R):5'- AGCTCACTGACTCACCCGG -3'
Posted On 2016-06-06