Incidental Mutation 'R9198:Map1a'
ID 698024
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R9198 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 121120081-121141313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121133854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1557 (M1557L)
Ref Sequence ENSEMBL: ENSMUSP00000092223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094639] [ENSMUST00000110639]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000094639
AA Change: M1557L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000092223
Gene: ENSMUSG00000027254
AA Change: M1557L

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
Predicted Effect probably benign
Transcript: ENSMUST00000110639
AA Change: M1319L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106269
Gene: ENSMUSG00000027254
AA Change: M1319L

DomainStartEndE-ValueType
Blast:Lactamase_B 48 300 3e-54 BLAST
SCOP:d1eq1a_ 346 461 1e-4 SMART
low complexity region 505 517 N/A INTRINSIC
low complexity region 582 595 N/A INTRINSIC
low complexity region 614 629 N/A INTRINSIC
low complexity region 659 673 N/A INTRINSIC
low complexity region 990 1001 N/A INTRINSIC
low complexity region 1096 1106 N/A INTRINSIC
low complexity region 1302 1317 N/A INTRINSIC
coiled coil region 1335 1364 N/A INTRINSIC
internal_repeat_1 1378 1488 5.43e-6 PROSPERO
coiled coil region 1509 1533 N/A INTRINSIC
internal_repeat_1 1536 1650 5.43e-6 PROSPERO
low complexity region 1822 1846 N/A INTRINSIC
low complexity region 1883 1895 N/A INTRINSIC
low complexity region 1918 1931 N/A INTRINSIC
low complexity region 2145 2158 N/A INTRINSIC
low complexity region 2198 2222 N/A INTRINSIC
low complexity region 2279 2303 N/A INTRINSIC
low complexity region 2351 2362 N/A INTRINSIC
low complexity region 2424 2444 N/A INTRINSIC
low complexity region 2447 2466 N/A INTRINSIC
low complexity region 2478 2490 N/A INTRINSIC
low complexity region 2528 2552 N/A INTRINSIC
low complexity region 2742 2750 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.5%
Validation Efficiency 97% (61/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 A G 5: 8,167,583 (GRCm39) probably null Het
Adamts9 A T 6: 92,837,170 (GRCm39) S1164T probably benign Het
Bcat1 A T 6: 144,985,222 (GRCm39) I140N probably damaging Het
Bod1l T C 5: 41,957,129 (GRCm39) T2832A probably benign Het
Brca2 A T 5: 150,459,977 (GRCm39) E417D possibly damaging Het
Ccdc88b T C 19: 6,831,268 (GRCm39) D558G possibly damaging Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cenpf G T 1: 189,388,987 (GRCm39) T1615K probably damaging Het
Cep250 T C 2: 155,830,354 (GRCm39) probably null Het
Clec4d T C 6: 123,251,757 (GRCm39) F213S probably damaging Het
Clip4 G A 17: 72,117,884 (GRCm39) G310R probably damaging Het
Csmd1 G A 8: 15,962,430 (GRCm39) R3255W probably damaging Het
Ctsm T C 13: 61,687,612 (GRCm39) D82G probably damaging Het
Cyp26a1 A G 19: 37,686,790 (GRCm39) T81A probably damaging Het
Dld A G 12: 31,390,885 (GRCm39) V187A probably benign Het
Dmrt2 T A 19: 25,655,477 (GRCm39) Y359N probably benign Het
Dnah9 T C 11: 65,846,570 (GRCm39) N2914S probably benign Het
Dpyd A T 3: 118,553,303 (GRCm39) probably null Het
Fgl2 A C 5: 21,577,920 (GRCm39) Q69P probably damaging Het
Gadd45gip1 A T 8: 85,560,780 (GRCm39) I132F probably damaging Het
Gm15446 T C 5: 110,090,743 (GRCm39) C332R probably damaging Het
Gm15737 A T 6: 92,856,640 (GRCm39) E23V unknown Het
Gm5111 A G 6: 48,567,037 (GRCm39) H84R unknown Het
Golga3 G A 5: 110,355,619 (GRCm39) S991N probably benign Het
H2-M10.3 A G 17: 36,678,919 (GRCm39) Y50H probably damaging Het
Hivep2 C T 10: 14,005,621 (GRCm39) H740Y probably benign Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Ints7 T A 1: 191,351,872 (GRCm39) S860R probably benign Het
Lipi T A 16: 75,362,461 (GRCm39) T217S possibly damaging Het
Lrrc2 G T 9: 110,791,722 (GRCm39) C158F probably benign Het
Lrrc30 T C 17: 67,938,854 (GRCm39) D242G probably benign Het
Matn2 A G 15: 34,423,924 (GRCm39) E594G probably damaging Het
Mfsd12 T C 10: 81,198,544 (GRCm39) L345P probably damaging Het
Mmp24 A G 2: 155,640,041 (GRCm39) R124G probably benign Het
Ngef T A 1: 87,406,797 (GRCm39) H240L unknown Het
Nmur1 T G 1: 86,315,256 (GRCm39) D203A probably benign Het
Nt5c3 T C 6: 56,859,955 (GRCm39) Q328R probably benign Het
Ogfr T C 2: 180,232,850 (GRCm39) probably null Het
Or4k1 A T 14: 50,377,990 (GRCm39) Y35* probably null Het
Or52ac1 T A 7: 104,245,635 (GRCm39) Y251F probably damaging Het
Or5h19 A G 16: 58,856,263 (GRCm39) V279A probably benign Het
Osbpl10 G A 9: 115,061,211 (GRCm39) W588* probably null Het
Pask A T 1: 93,265,205 (GRCm39) S17T possibly damaging Het
Pfkfb3 C T 2: 11,491,084 (GRCm39) R170K probably damaging Het
Plec A G 15: 76,069,937 (GRCm39) C960R unknown Het
Pramel11 T A 4: 143,623,646 (GRCm39) N176I probably benign Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Rfx7 T C 9: 72,524,163 (GRCm39) L451P probably damaging Het
Rimbp2 T A 5: 128,883,552 (GRCm39) E76V probably damaging Het
Rock2 A G 12: 17,015,557 (GRCm39) N818S probably benign Het
Ryk A T 9: 102,758,854 (GRCm39) I248F possibly damaging Het
Setd2 A G 9: 110,378,168 (GRCm39) Q661R possibly damaging Het
Siae T C 9: 37,539,105 (GRCm39) V172A probably benign Het
Slc35f4 A G 14: 49,556,377 (GRCm39) S9P unknown Het
Smg1 T C 7: 117,795,179 (GRCm39) E456G unknown Het
Srgap3 C T 6: 112,743,865 (GRCm39) A458T probably damaging Het
Tgfbrap1 T A 1: 43,093,799 (GRCm39) R564S probably damaging Het
Usp15 A G 10: 123,004,143 (GRCm39) Y204H probably damaging Het
Usp35 A G 7: 96,962,276 (GRCm39) Y527H probably damaging Het
Usp8 T A 2: 126,600,524 (GRCm39) *1092K probably null Het
Vmn2r73 A T 7: 85,518,987 (GRCm39) M545K probably benign Het
Ylpm1 A T 12: 85,080,689 (GRCm39) probably null Het
Zscan22 G T 7: 12,641,130 (GRCm39) R458L 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
R7524:Map1a UTSW 2 121,120,293 (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
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'- TGTCTATTCCAGAGCCCCAC -3'
(R):5'- CTGATGCATGACTGAGTCCC -3'

Sequencing Primer
(F):5'- GTGTCACCTCCCACAGATGAG -3'
(R):5'- ATGACTGAGTCCCGCTGG -3'
Posted On 2022-02-07