Incidental Mutation 'R7524:Map1a'
ID 582819
Institutional Source Beutler Lab
Gene Symbol Map1a
Ensembl Gene ENSMUSG00000027254
Gene Name microtubule-associated protein 1 A
Synonyms Mtap1a, Mtap-1, 6330416M19Rik, Mtap1
MMRRC Submission 045596-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R7524 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 121120081-121141313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 121120293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 60 (V60M)
Ref Sequence ENSEMBL: ENSMUSP00000092223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094639]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000094639
AA Change: V60M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000092223
Gene: ENSMUSG00000027254
AA Change: V60M

DomainStartEndE-ValueType
Blast:Lactamase_B 286 538 2e-54 BLAST
SCOP:d1eq1a_ 584 699 8e-5 SMART
low complexity region 743 755 N/A INTRINSIC
low complexity region 820 833 N/A INTRINSIC
low complexity region 852 867 N/A INTRINSIC
low complexity region 897 911 N/A INTRINSIC
low complexity region 1228 1239 N/A INTRINSIC
low complexity region 1334 1344 N/A INTRINSIC
low complexity region 1540 1555 N/A INTRINSIC
coiled coil region 1573 1602 N/A INTRINSIC
internal_repeat_1 1616 1726 7.66e-6 PROSPERO
coiled coil region 1747 1771 N/A INTRINSIC
internal_repeat_1 1774 1888 7.66e-6 PROSPERO
low complexity region 2060 2084 N/A INTRINSIC
low complexity region 2121 2133 N/A INTRINSIC
low complexity region 2156 2169 N/A INTRINSIC
low complexity region 2383 2396 N/A INTRINSIC
low complexity region 2436 2460 N/A INTRINSIC
low complexity region 2517 2541 N/A INTRINSIC
low complexity region 2589 2600 N/A INTRINSIC
low complexity region 2662 2682 N/A INTRINSIC
low complexity region 2685 2704 N/A INTRINSIC
low complexity region 2716 2728 N/A INTRINSIC
low complexity region 2766 2790 N/A INTRINSIC
low complexity region 2980 2988 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit Purkinje cell degeneration. Mice homozygous for a spontaneous mutation exhibit mild ataxia and Purkinje cell degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 C T 8: 56,325,395 (GRCm39) C353Y probably damaging Het
Afap1l2 T A 19: 56,906,543 (GRCm39) E452V probably damaging Het
Ak6 A G 13: 100,800,415 (GRCm39) D45G probably benign Het
Arhgap17 G A 7: 122,905,643 (GRCm39) P334L probably damaging Het
Asns G T 6: 7,677,259 (GRCm39) probably null Het
Bend7 A G 2: 4,804,791 (GRCm39) T424A probably benign Het
Btbd2 C T 10: 80,482,278 (GRCm39) E241K probably damaging Het
Commd2 A C 3: 57,557,569 (GRCm39) L99W probably damaging Het
Cpne9 A T 6: 113,279,025 (GRCm39) D473V probably damaging Het
Cuzd1 A T 7: 130,913,347 (GRCm39) F423L probably damaging Het
Cyp2d9 T C 15: 82,340,146 (GRCm39) F390L probably damaging Het
Dcaf5 T A 12: 80,423,470 (GRCm39) Q234L probably benign Het
Dennd3 T G 15: 73,396,095 (GRCm39) Y201* probably null Het
Dnah17 T C 11: 118,012,307 (GRCm39) D485G probably benign Het
Dnah5 A T 15: 28,297,212 (GRCm39) T1469S possibly damaging Het
Dnah6 T C 6: 73,095,082 (GRCm39) D2167G probably damaging Het
Dst T C 1: 34,330,974 (GRCm39) V4921A possibly damaging Het
Ephb2 A G 4: 136,387,020 (GRCm39) Y736H probably damaging Het
Eri2 C G 7: 119,384,972 (GRCm39) V510L probably benign Het
Eya2 G A 2: 165,611,246 (GRCm39) probably null Het
Fastkd5 G T 2: 130,458,048 (GRCm39) Q181K probably benign Het
Fcgbp T C 7: 27,802,391 (GRCm39) S1440P probably damaging Het
Fkbp9 G A 6: 56,845,725 (GRCm39) V354M probably damaging Het
Frmpd1 T A 4: 45,271,181 (GRCm39) S304T probably benign Het
Gtf2a2 T A 9: 69,922,629 (GRCm39) Y3* probably null Het
Hagh G A 17: 25,080,314 (GRCm39) V226I probably benign Het
Hemk1 T A 9: 107,205,484 (GRCm39) I293F probably benign Het
Kcna3 A G 3: 106,944,523 (GRCm39) E262G probably damaging Het
Kcnt2 A T 1: 140,511,793 (GRCm39) T983S probably damaging Het
Klhdc3 A T 17: 46,989,340 (GRCm39) H7Q probably damaging Het
Knl1 A T 2: 118,896,460 (GRCm39) Q94L probably damaging Het
Krt12 T C 11: 99,310,485 (GRCm39) D224G probably damaging Het
Lats1 T A 10: 7,577,742 (GRCm39) S289T possibly damaging Het
Man2a2 G C 7: 80,018,613 (GRCm39) A82G probably benign Het
Mms22l T A 4: 24,536,138 (GRCm39) F536I possibly damaging Het
Ms4a14 T C 19: 11,281,200 (GRCm39) T453A unknown Het
Muc3a A C 5: 137,245,020 (GRCm39) I151S probably benign Het
Myorg C A 4: 41,498,779 (GRCm39) V284L probably benign Het
Oaf G A 9: 43,134,077 (GRCm39) R215C probably damaging Het
Or4c112 T A 2: 88,854,315 (GRCm39) I11L probably benign Het
Or4c125 A G 2: 89,170,221 (GRCm39) C142R probably benign Het
Or4e5 T C 14: 52,727,750 (GRCm39) I224V probably damaging Het
Or5ar1 T A 2: 85,671,701 (GRCm39) M145L probably benign Het
Or6z7 T C 7: 6,483,586 (GRCm39) N190D probably benign Het
Or7a42 T A 10: 78,791,325 (GRCm39) Y95* probably null Het
Pcdhgb4 A T 18: 37,854,661 (GRCm39) D352V probably benign Het
Pced1a A G 2: 130,263,948 (GRCm39) F235L probably benign Het
Pclo A G 5: 14,728,317 (GRCm39) I2392V unknown Het
Pld1 A T 3: 28,078,470 (GRCm39) D43V possibly damaging Het
Ppp1r1b C A 11: 98,241,720 (GRCm39) A51D possibly damaging Het
Prr23a1 T A 9: 98,724,917 (GRCm39) L93H probably damaging Het
Psg20 T C 7: 18,418,584 (GRCm39) D61G probably benign Het
Rab40b T A 11: 121,278,878 (GRCm39) I31F probably damaging Het
Rasd2 T C 8: 75,948,709 (GRCm39) F212L probably benign Het
Rbl2 A G 8: 91,841,821 (GRCm39) I1006V probably benign Het
Sema6c A G 3: 95,074,371 (GRCm39) E59G probably benign Het
Slc22a2 G T 17: 12,824,944 (GRCm39) V269L possibly damaging Het
Slc2a1 C T 4: 118,989,809 (GRCm39) P149S probably damaging Het
Smad4 T G 18: 73,808,942 (GRCm39) E108D probably damaging Het
Sorbs2 T A 8: 46,248,693 (GRCm39) I648K probably benign Het
Suclg1 A T 6: 73,240,824 (GRCm39) I118F probably damaging Het
Tasor T A 14: 27,188,160 (GRCm39) C869S probably damaging Het
Tet2 A G 3: 133,185,990 (GRCm39) I1149T probably benign Het
Tfr2 T A 5: 137,569,751 (GRCm39) Y82* probably null Het
Tfr2 G T 5: 137,581,751 (GRCm39) V613L probably benign Het
Tg A T 15: 66,568,010 (GRCm39) M1305L probably benign Het
Tmem176a A T 6: 48,821,039 (GRCm39) M170L probably benign Het
Trim71 T C 9: 114,342,230 (GRCm39) N684S probably benign Het
Tspan9 A G 6: 127,942,214 (GRCm39) I212T probably benign Het
Ttn A G 2: 76,773,319 (GRCm39) V2361A possibly damaging Het
Uqcrc1 C T 9: 108,765,827 (GRCm39) T14M possibly damaging Het
Vmn2r11 T C 5: 109,201,848 (GRCm39) I219V probably benign Het
Vmn2r76 T C 7: 85,874,577 (GRCm39) H800R probably benign Het
Vmn2r76 C T 7: 85,879,374 (GRCm39) G309R probably benign Het
Xpc A T 6: 91,476,513 (GRCm39) C529S probably benign Het
Zfp455 T A 13: 67,355,688 (GRCm39) S254T possibly damaging Het
Zfp746 T C 6: 48,041,823 (GRCm39) H301R possibly damaging Het
Zyg11a A T 4: 108,049,271 (GRCm39) I490N probably damaging Het
Other mutations in Map1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Map1a APN 2 121,129,508 (GRCm39) missense probably damaging 0.99
IGL00826:Map1a APN 2 121,132,757 (GRCm39) missense possibly damaging 0.87
IGL01476:Map1a APN 2 121,135,688 (GRCm39) missense probably damaging 1.00
IGL02029:Map1a APN 2 121,133,779 (GRCm39) missense possibly damaging 0.57
IGL02100:Map1a APN 2 121,133,327 (GRCm39) missense probably damaging 0.99
IGL02136:Map1a APN 2 121,130,693 (GRCm39) missense probably damaging 1.00
IGL02146:Map1a APN 2 121,129,927 (GRCm39) missense probably damaging 1.00
IGL02264:Map1a APN 2 121,137,794 (GRCm39) missense probably damaging 1.00
IGL02456:Map1a APN 2 121,129,134 (GRCm39) missense probably damaging 1.00
IGL02485:Map1a APN 2 121,129,769 (GRCm39) missense probably damaging 1.00
IGL02535:Map1a APN 2 121,132,658 (GRCm39) nonsense probably null
IGL02628:Map1a APN 2 121,130,585 (GRCm39) missense probably damaging 1.00
IGL02721:Map1a APN 2 121,134,518 (GRCm39) missense probably benign 0.44
IGL03273:Map1a APN 2 121,130,719 (GRCm39) missense probably damaging 1.00
IGL03281:Map1a APN 2 121,135,541 (GRCm39) missense probably damaging 1.00
IGL02991:Map1a UTSW 2 121,132,091 (GRCm39) missense probably damaging 0.99
R0096:Map1a UTSW 2 121,131,986 (GRCm39) missense probably damaging 1.00
R0096:Map1a UTSW 2 121,131,986 (GRCm39) missense probably damaging 1.00
R0218:Map1a UTSW 2 121,135,906 (GRCm39) missense probably benign 0.00
R0363:Map1a UTSW 2 121,132,525 (GRCm39) missense probably damaging 1.00
R0450:Map1a UTSW 2 121,136,255 (GRCm39) missense probably benign 0.27
R0469:Map1a UTSW 2 121,136,255 (GRCm39) missense probably benign 0.27
R0477:Map1a UTSW 2 121,132,582 (GRCm39) missense probably damaging 1.00
R0504:Map1a UTSW 2 121,133,422 (GRCm39) missense probably benign 0.03
R0510:Map1a UTSW 2 121,136,255 (GRCm39) missense probably benign 0.27
R0521:Map1a UTSW 2 121,136,234 (GRCm39) missense probably damaging 1.00
R0601:Map1a UTSW 2 121,129,083 (GRCm39) missense probably damaging 1.00
R0619:Map1a UTSW 2 121,135,736 (GRCm39) missense probably damaging 0.96
R0633:Map1a UTSW 2 121,138,495 (GRCm39) missense probably damaging 1.00
R0652:Map1a UTSW 2 121,133,264 (GRCm39) missense probably benign 0.04
R0893:Map1a UTSW 2 121,131,014 (GRCm39) missense probably damaging 1.00
R0960:Map1a UTSW 2 121,132,124 (GRCm39) missense probably benign 0.16
R1115:Map1a UTSW 2 121,137,859 (GRCm39) splice site probably null
R1166:Map1a UTSW 2 121,130,741 (GRCm39) missense probably damaging 1.00
R1326:Map1a UTSW 2 121,136,671 (GRCm39) nonsense probably null
R1331:Map1a UTSW 2 121,136,701 (GRCm39) nonsense probably null
R1395:Map1a UTSW 2 121,134,406 (GRCm39) missense probably benign 0.26
R1489:Map1a UTSW 2 121,130,918 (GRCm39) missense possibly damaging 0.91
R1573:Map1a UTSW 2 121,134,607 (GRCm39) missense probably benign 0.37
R1596:Map1a UTSW 2 121,120,246 (GRCm39) missense probably benign 0.00
R1662:Map1a UTSW 2 121,136,889 (GRCm39) missense possibly damaging 0.90
R1675:Map1a UTSW 2 121,133,136 (GRCm39) nonsense probably null
R1919:Map1a UTSW 2 121,137,493 (GRCm39) missense probably damaging 1.00
R2122:Map1a UTSW 2 121,129,927 (GRCm39) missense probably damaging 1.00
R2126:Map1a UTSW 2 121,129,122 (GRCm39) missense probably damaging 0.96
R2143:Map1a UTSW 2 121,132,426 (GRCm39) missense probably damaging 1.00
R2172:Map1a UTSW 2 121,138,413 (GRCm39) missense probably damaging 1.00
R2249:Map1a UTSW 2 121,130,768 (GRCm39) missense probably damaging 1.00
R2254:Map1a UTSW 2 121,134,272 (GRCm39) missense possibly damaging 0.71
R2255:Map1a UTSW 2 121,134,272 (GRCm39) missense possibly damaging 0.71
R3834:Map1a UTSW 2 121,137,803 (GRCm39) missense probably damaging 1.00
R4011:Map1a UTSW 2 121,130,608 (GRCm39) missense probably damaging 1.00
R4346:Map1a UTSW 2 121,131,806 (GRCm39) missense probably benign 0.13
R4842:Map1a UTSW 2 121,132,567 (GRCm39) missense probably damaging 1.00
R4933:Map1a UTSW 2 121,136,386 (GRCm39) missense probably damaging 1.00
R4978:Map1a UTSW 2 121,131,623 (GRCm39) missense probably benign 0.00
R4988:Map1a UTSW 2 121,133,531 (GRCm39) missense probably benign 0.34
R5026:Map1a UTSW 2 121,138,019 (GRCm39) missense possibly damaging 0.83
R5086:Map1a UTSW 2 121,134,985 (GRCm39) missense probably damaging 1.00
R5155:Map1a UTSW 2 121,132,867 (GRCm39) missense probably damaging 1.00
R5232:Map1a UTSW 2 121,132,466 (GRCm39) missense probably damaging 1.00
R5311:Map1a UTSW 2 121,132,868 (GRCm39) missense probably damaging 1.00
R5401:Map1a UTSW 2 121,130,153 (GRCm39) missense probably damaging 1.00
R5465:Map1a UTSW 2 121,136,506 (GRCm39) missense probably damaging 1.00
R5526:Map1a UTSW 2 121,136,143 (GRCm39) missense probably damaging 1.00
R5642:Map1a UTSW 2 121,136,524 (GRCm39) missense probably damaging 1.00
R5726:Map1a UTSW 2 121,135,546 (GRCm39) missense probably damaging 1.00
R5817:Map1a UTSW 2 121,129,391 (GRCm39) missense possibly damaging 0.81
R5855:Map1a UTSW 2 121,134,155 (GRCm39) missense possibly damaging 0.74
R5917:Map1a UTSW 2 121,135,697 (GRCm39) missense probably damaging 1.00
R5974:Map1a UTSW 2 121,134,857 (GRCm39) missense probably benign 0.20
R5987:Map1a UTSW 2 121,134,776 (GRCm39) missense possibly damaging 0.56
R6151:Map1a UTSW 2 121,120,304 (GRCm39) missense probably benign 0.12
R6406:Map1a UTSW 2 121,131,224 (GRCm39) missense probably damaging 1.00
R7014:Map1a UTSW 2 121,130,720 (GRCm39) missense probably damaging 1.00
R7099:Map1a UTSW 2 121,130,998 (GRCm39) missense probably benign 0.04
R7211:Map1a UTSW 2 121,135,124 (GRCm39) missense probably benign 0.02
R7230:Map1a UTSW 2 121,131,299 (GRCm39) missense probably damaging 1.00
R7305:Map1a UTSW 2 121,129,939 (GRCm39) missense probably damaging 1.00
R7382:Map1a UTSW 2 121,121,266 (GRCm39) missense probably damaging 1.00
R7699:Map1a UTSW 2 121,130,201 (GRCm39) missense probably damaging 1.00
R7767:Map1a UTSW 2 121,132,517 (GRCm39) missense probably damaging 1.00
R7883:Map1a UTSW 2 121,135,853 (GRCm39) missense probably damaging 1.00
R7896:Map1a UTSW 2 121,135,657 (GRCm39) missense probably benign 0.00
R7993:Map1a UTSW 2 121,135,057 (GRCm39) missense possibly damaging 0.84
R8270:Map1a UTSW 2 121,129,501 (GRCm39) missense probably damaging 0.99
R8365:Map1a UTSW 2 121,138,528 (GRCm39) missense probably damaging 1.00
R8428:Map1a UTSW 2 121,135,418 (GRCm39) missense probably benign 0.42
R8490:Map1a UTSW 2 121,135,045 (GRCm39) missense possibly damaging 0.93
R8678:Map1a UTSW 2 121,137,737 (GRCm39) missense probably damaging 1.00
R8798:Map1a UTSW 2 121,132,768 (GRCm39) missense probably benign 0.20
R8857:Map1a UTSW 2 121,138,098 (GRCm39) missense probably damaging 1.00
R8878:Map1a UTSW 2 121,138,125 (GRCm39) missense probably damaging 1.00
R8909:Map1a UTSW 2 121,129,391 (GRCm39) missense probably damaging 0.99
R8917:Map1a UTSW 2 121,131,791 (GRCm39) missense possibly damaging 0.93
R8947:Map1a UTSW 2 121,135,450 (GRCm39) missense probably benign 0.27
R9069:Map1a UTSW 2 121,134,145 (GRCm39) missense probably benign 0.15
R9198:Map1a UTSW 2 121,133,854 (GRCm39) missense probably benign 0.00
R9253:Map1a UTSW 2 121,132,823 (GRCm39) missense probably benign 0.00
R9290:Map1a UTSW 2 121,131,014 (GRCm39) missense probably damaging 1.00
R9300:Map1a UTSW 2 121,133,446 (GRCm39) missense probably damaging 1.00
R9589:Map1a UTSW 2 121,136,398 (GRCm39) missense probably damaging 1.00
R9680:Map1a UTSW 2 121,132,865 (GRCm39) missense probably damaging 1.00
R9792:Map1a UTSW 2 121,121,304 (GRCm39) critical splice donor site probably null
R9793:Map1a UTSW 2 121,121,304 (GRCm39) critical splice donor site probably null
R9795:Map1a UTSW 2 121,121,304 (GRCm39) critical splice donor site probably null
RF003:Map1a UTSW 2 121,136,777 (GRCm39) small insertion probably benign
RF007:Map1a UTSW 2 121,136,789 (GRCm39) small insertion probably benign
RF009:Map1a UTSW 2 121,136,782 (GRCm39) small insertion probably benign
RF010:Map1a UTSW 2 121,136,799 (GRCm39) small insertion probably benign
RF014:Map1a UTSW 2 121,136,776 (GRCm39) small insertion probably benign
RF017:Map1a UTSW 2 121,136,789 (GRCm39) small insertion probably benign
RF024:Map1a UTSW 2 121,136,788 (GRCm39) small insertion probably benign
RF025:Map1a UTSW 2 121,136,775 (GRCm39) small insertion probably benign
RF030:Map1a UTSW 2 121,136,798 (GRCm39) small insertion probably benign
RF030:Map1a UTSW 2 121,136,792 (GRCm39) small insertion probably benign
RF033:Map1a UTSW 2 121,136,780 (GRCm39) small insertion probably benign
RF034:Map1a UTSW 2 121,136,788 (GRCm39) small insertion probably benign
RF034:Map1a UTSW 2 121,136,785 (GRCm39) small insertion probably benign
RF035:Map1a UTSW 2 121,136,782 (GRCm39) small insertion probably benign
RF037:Map1a UTSW 2 121,136,775 (GRCm39) small insertion probably benign
RF039:Map1a UTSW 2 121,136,785 (GRCm39) small insertion probably benign
RF042:Map1a UTSW 2 121,136,768 (GRCm39) small insertion probably benign
RF044:Map1a UTSW 2 121,136,774 (GRCm39) small insertion probably benign
RF045:Map1a UTSW 2 121,136,774 (GRCm39) small insertion probably benign
RF051:Map1a UTSW 2 121,136,777 (GRCm39) small insertion probably benign
RF052:Map1a UTSW 2 121,136,776 (GRCm39) small insertion probably benign
RF053:Map1a UTSW 2 121,136,771 (GRCm39) small insertion probably benign
RF060:Map1a UTSW 2 121,136,799 (GRCm39) small insertion probably benign
RF061:Map1a UTSW 2 121,136,768 (GRCm39) small insertion probably benign
Z1176:Map1a UTSW 2 121,133,719 (GRCm39) missense possibly damaging 0.95
Z1177:Map1a UTSW 2 121,135,760 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTTTCCATGGCGACCGAAG -3'
(R):5'- GGACAGAGGCACATTCATGG -3'

Sequencing Primer
(F):5'- CGTTGCCATGGAGACAA -3'
(R):5'- GGCACATTCATGGAAGATGC -3'
Posted On 2019-10-17