Incidental Mutation 'R9589:Map1a'
ID 722918
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 # R9589 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 121120081-121141313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121136398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 2405 (S2405P)
Ref Sequence ENSEMBL: ENSMUSP00000092223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052029] [ENSMUST00000094639] [ENSMUST00000110625] [ENSMUST00000110626] [ENSMUST00000110627] [ENSMUST00000110628] [ENSMUST00000110639]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000052029
SMART Domains Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526

DomainStartEndE-ValueType
low complexity region 35 48 N/A INTRINSIC
PDB:3T99|A 50 377 N/A PDB
Pfam:His_Phos_2 390 906 8.8e-110 PFAM
low complexity region 1163 1181 N/A INTRINSIC
coiled coil region 1402 1430 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000094639
AA Change: S2405P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092223
Gene: ENSMUSG00000027254
AA Change: S2405P

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: ENSMUST00000110625
SMART Domains Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526

DomainStartEndE-ValueType
low complexity region 35 48 N/A INTRINSIC
PDB:3T99|A 50 377 N/A PDB
Pfam:His_Phos_2 390 906 8.5e-110 PFAM
low complexity region 1142 1160 N/A INTRINSIC
coiled coil region 1381 1409 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110626
SMART Domains Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526

DomainStartEndE-ValueType
low complexity region 35 48 N/A INTRINSIC
PDB:3T99|A 50 377 N/A PDB
Pfam:His_Phos_2 390 906 1.1e-135 PFAM
low complexity region 1163 1181 N/A INTRINSIC
coiled coil region 1402 1430 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110627
SMART Domains Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526

DomainStartEndE-ValueType
low complexity region 35 48 N/A INTRINSIC
PDB:3T99|A 50 377 N/A PDB
Pfam:His_Phos_2 390 906 8.5e-110 PFAM
low complexity region 1142 1160 N/A INTRINSIC
coiled coil region 1381 1409 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110628
SMART Domains Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526

DomainStartEndE-ValueType
low complexity region 35 48 N/A INTRINSIC
PDB:3T99|A 50 377 N/A PDB
Pfam:His_Phos_2 390 886 3.9e-101 PFAM
low complexity region 1143 1161 N/A INTRINSIC
coiled coil region 1382 1410 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110639
AA Change: S2167P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106269
Gene: ENSMUSG00000027254
AA Change: S2167P

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A G 8: 95,760,093 (GRCm39) D104G possibly damaging Het
Ahnak2 G T 12: 112,746,831 (GRCm39) D1166E Het
C2cd3 T A 7: 100,081,756 (GRCm39) S1133T Het
Ccdc17 A G 4: 116,454,791 (GRCm39) Q168R probably benign Het
Fn1 A T 1: 71,668,941 (GRCm39) I668N probably damaging Het
Fyb2 C A 4: 104,872,833 (GRCm39) N735K probably damaging Het
Gad1 T C 2: 70,416,284 (GRCm39) S248P possibly damaging Het
Gcnt1 G A 19: 17,307,422 (GRCm39) A101V probably benign Het
Herc1 T A 9: 66,372,840 (GRCm39) M3132K possibly damaging Het
Htra3 T C 5: 35,821,409 (GRCm39) I323V probably damaging Het
Ighv11-2 A T 12: 114,012,047 (GRCm39) V56D probably damaging Het
Itga8 C T 2: 12,237,701 (GRCm39) G340R probably damaging Het
Kcnk15 C T 2: 163,700,127 (GRCm39) T122M probably damaging Het
Kif13a G T 13: 46,956,020 (GRCm39) Q658K probably benign Het
Kif13b T C 14: 65,013,759 (GRCm39) I1303T possibly damaging Het
Kifc3 A T 8: 95,861,372 (GRCm39) S94R possibly damaging Het
Lrrc63 A T 14: 75,322,379 (GRCm39) F575Y possibly damaging Het
Map2 A G 1: 66,449,753 (GRCm39) T159A probably benign Het
Mgam A T 6: 40,727,519 (GRCm39) I1315F probably damaging Het
Or51a39 T C 7: 102,363,372 (GRCm39) T83A probably damaging Het
Pah T A 10: 87,403,197 (GRCm39) F191I probably damaging Het
Plekhh2 G A 17: 84,854,918 (GRCm39) D51N possibly damaging Het
Ppp4r2 C T 6: 100,838,409 (GRCm39) T109M probably damaging Het
Rfx7 T C 9: 72,525,122 (GRCm39) S771P possibly damaging Het
Sec11a T C 7: 80,565,899 (GRCm39) *171W probably null Het
Secisbp2l C A 2: 125,589,425 (GRCm39) V708L probably benign Het
Secisbp2l T G 2: 125,589,430 (GRCm39) D706A probably damaging Het
Shpk C T 11: 73,104,267 (GRCm39) P139S possibly damaging Het
Slc6a18 A G 13: 73,816,323 (GRCm39) L352P possibly damaging Het
Slitrk3 T C 3: 72,957,981 (GRCm39) T264A probably benign Het
Smg9 T G 7: 24,120,246 (GRCm39) S407A probably damaging Het
Stmn4 A G 14: 66,595,338 (GRCm39) E121G probably damaging Het
Tmem237 G A 1: 59,159,146 (GRCm39) P10S probably benign Het
Vmn2r73 A G 7: 85,519,659 (GRCm39) I433T probably benign Het
Zfp28 T A 7: 6,392,816 (GRCm39) M164K probably benign Het
Zswim8 A G 14: 20,763,171 (GRCm39) M357V 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
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
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'- CACTGTGGCCTGAAACTGAG -3'
(R):5'- ACTTGAAATCACAGGCGTGGTAG -3'

Sequencing Primer
(F):5'- CCTGAAACTGAGGCGCATAG -3'
(R):5'- TTCAGACAAGGCTGGCG -3'
Posted On 2022-08-09