Incidental Mutation 'R5974:Map1a'
ID 471591
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 044157-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R5974 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 121120081-121141313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121134857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1653 (V1653A)
Ref Sequence ENSEMBL: ENSMUSP00000106269 (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: V1891A

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000092223
Gene: ENSMUSG00000027254
AA Change: V1891A

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: V1653A

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106269
Gene: ENSMUSG00000027254
AA Change: V1653A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133283
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Anapc4 T C 5: 53,002,742 (GRCm39) L261P probably damaging Het
Aqp6 A G 15: 99,499,317 (GRCm39) Y10C probably benign Het
Ccnb1ip1 A T 14: 51,029,662 (GRCm39) N133K probably benign Het
Clip4 A T 17: 72,138,242 (GRCm39) H433L probably damaging Het
Cntnap5c T A 17: 58,183,480 (GRCm39) M62K probably benign Het
Col12a1 A G 9: 79,589,409 (GRCm39) S1049P probably damaging Het
Col15a1 C T 4: 47,258,683 (GRCm39) T358I probably benign Het
Coro7 A T 16: 4,449,753 (GRCm39) D645E possibly damaging Het
Ctnnal1 C A 4: 56,817,067 (GRCm39) W585L probably damaging Het
Ctnnd1 C A 2: 84,451,259 (GRCm39) E114* probably null Het
Daam2 T A 17: 49,771,501 (GRCm39) S882C probably damaging Het
Des T A 1: 75,339,628 (GRCm39) S329T probably benign Het
Dido1 T C 2: 180,313,290 (GRCm39) D994G probably benign Het
Dock3 A G 9: 106,871,261 (GRCm39) V547A probably damaging Het
Ebf4 G A 2: 130,207,484 (GRCm39) A643T probably damaging Het
Ect2 C A 3: 27,199,112 (GRCm39) E194* probably null Het
Epb41l2 A G 10: 25,317,713 (GRCm39) I77V possibly damaging Het
Fat3 A T 9: 15,917,824 (GRCm39) probably null Het
Fbn2 T G 18: 58,181,992 (GRCm39) D1803A probably damaging Het
Fbxo10 T C 4: 45,040,631 (GRCm39) E858G probably benign Het
Fbxo24 C T 5: 137,617,912 (GRCm39) R284Q probably benign Het
Fsip2 T A 2: 82,793,657 (GRCm39) I425N possibly damaging Het
Fut9 A C 4: 25,620,090 (GRCm39) Y241* probably null Het
Galr2 A G 11: 116,173,852 (GRCm39) S161G possibly damaging Het
Gcc2 T A 10: 58,094,065 (GRCm39) L14I probably damaging Het
H2-T15 A T 17: 36,367,677 (GRCm39) D220E probably benign Het
Hdac11 G A 6: 91,150,196 (GRCm39) V332I probably benign Het
Hdac7 T C 15: 97,699,953 (GRCm39) probably null Het
Kif16b C T 2: 142,699,301 (GRCm39) G93D probably damaging Het
Krtap11-1 C A 16: 89,367,656 (GRCm39) C121F possibly damaging Het
Lacc1 T C 14: 77,272,517 (GRCm39) Q93R probably damaging Het
Lama1 T C 17: 68,080,722 (GRCm39) F1250S probably benign Het
Lmbrd2 A G 15: 9,172,202 (GRCm39) E332G probably benign Het
Lrp2 C A 2: 69,289,892 (GRCm39) C3649F probably damaging Het
Mrpl1 T C 5: 96,379,653 (GRCm39) probably null Het
Myo1b A G 1: 51,817,532 (GRCm39) S577P probably damaging Het
Nedd4 T A 9: 72,650,920 (GRCm39) probably null Het
Negr1 T A 3: 156,774,923 (GRCm39) V213E probably damaging Het
Nlk T G 11: 78,481,792 (GRCm39) Q223P probably benign Het
Ntn5 A G 7: 45,340,848 (GRCm39) H162R probably damaging Het
Nup42 T C 5: 24,372,400 (GRCm39) S63P probably damaging Het
Obscn C A 11: 58,967,373 (GRCm39) D477Y probably damaging Het
Or12d12 A T 17: 37,611,229 (GRCm39) I28N possibly damaging Het
Or5an1 T C 19: 12,261,200 (GRCm39) S263P probably damaging Het
Or8u10 T C 2: 85,915,225 (GRCm39) S299G probably benign Het
Pabpn1 A G 14: 55,134,617 (GRCm39) T280A probably damaging Het
Per3 A T 4: 151,127,194 (GRCm39) V109E possibly damaging Het
Pira2 A C 7: 3,844,576 (GRCm39) V485G probably benign Het
Pknox2 A G 9: 36,847,618 (GRCm39) L133P probably damaging Het
Pros1 A C 16: 62,721,030 (GRCm39) N195T probably damaging Het
Rffl T C 11: 82,696,977 (GRCm39) K289E probably damaging Het
Ripk1 T A 13: 34,214,084 (GRCm39) Y475* probably null Het
Ryr2 A G 13: 11,729,397 (GRCm39) probably null Het
Sgk1 T A 10: 21,872,148 (GRCm39) N241K probably damaging Het
Skint1 T A 4: 111,876,516 (GRCm39) S146T probably benign Het
Sox30 G T 11: 45,871,900 (GRCm39) D252Y probably damaging Het
Syngap1 A G 17: 27,182,012 (GRCm39) Y1002C probably damaging Het
Tiam2 A G 17: 3,465,084 (GRCm39) D271G possibly damaging Het
Ticam1 T C 17: 56,578,178 (GRCm39) T306A probably benign Het
Tmem252 A G 19: 24,651,632 (GRCm39) E67G probably benign Het
Tnxb T G 17: 34,904,681 (GRCm39) F1149V probably damaging Het
Ubr4 A G 4: 139,148,389 (GRCm39) probably null Het
Unc50 A G 1: 37,476,290 (GRCm39) D150G probably benign Het
Ywhag A C 5: 135,940,483 (GRCm39) L37R probably damaging Het
Zfp296 T C 7: 19,311,862 (GRCm39) L123P probably benign Het
Zfp418 G T 7: 7,185,199 (GRCm39) Q387H possibly damaging Het
Zfp882 T C 8: 72,666,999 (GRCm39) F53L 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
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
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'- CGGAGAAGACCAGAGCTTTG -3'
(R):5'- ATCCTTGAAATCCGAGGCC -3'

Sequencing Primer
(F):5'- AGACCAGAGCTTTGGGGCTG -3'
(R):5'- TTGAAATCCGAGGCCCAGGG -3'
Posted On 2017-03-31