Incidental Mutation 'R9430:Map1b'
ID 712918
Institutional Source Beutler Lab
Gene Symbol Map1b
Ensembl Gene ENSMUSG00000052727
Gene Name microtubule-associated protein 1B
Synonyms Mtap1b, Mtap-5, MAP5, Mtap5, LC1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9430 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 99557954-99653048 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99570616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 702 (T702S)
Ref Sequence ENSEMBL: ENSMUSP00000068374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064762]
AlphaFold P14873
Predicted Effect unknown
Transcript: ENSMUST00000064762
AA Change: T702S
SMART Domains Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: T702S

DomainStartEndE-ValueType
low complexity region 41 50 N/A INTRINSIC
Blast:Lactamase_B 270 514 1e-56 BLAST
low complexity region 578 595 N/A INTRINSIC
low complexity region 597 617 N/A INTRINSIC
SCOP:d1gkub2 633 735 8e-4 SMART
low complexity region 771 813 N/A INTRINSIC
low complexity region 855 866 N/A INTRINSIC
low complexity region 889 913 N/A INTRINSIC
low complexity region 935 956 N/A INTRINSIC
low complexity region 1006 1030 N/A INTRINSIC
low complexity region 1247 1261 N/A INTRINSIC
low complexity region 1390 1404 N/A INTRINSIC
low complexity region 1545 1557 N/A INTRINSIC
low complexity region 1724 1735 N/A INTRINSIC
Pfam:MAP1B_neuraxin 1891 1907 1.9e-10 PFAM
Pfam:MAP1B_neuraxin 1908 1924 8.3e-11 PFAM
Pfam:MAP1B_neuraxin 1942 1958 3.1e-9 PFAM
Pfam:MAP1B_neuraxin 1959 1975 6.2e-9 PFAM
Pfam:MAP1B_neuraxin 2027 2043 2.9e-10 PFAM
Pfam:MAP1B_neuraxin 2044 2060 3.9e-9 PFAM
low complexity region 2227 2257 N/A INTRINSIC
low complexity region 2286 2307 N/A INTRINSIC
low complexity region 2316 2343 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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 MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one knock-out allele die prior to E8.5. While mice homozygous for other knock-out alleles exhibit behavioral, visual system, and nervous system defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A C 1: 59,231,198 (GRCm39) N804K probably benign Het
Arid5b C A 10: 68,022,087 (GRCm39) probably null Het
Brd2 T C 17: 34,331,610 (GRCm39) D779G unknown Het
Brox A T 1: 183,069,353 (GRCm39) V118E probably damaging Het
Ccdc137 A T 11: 120,349,530 (GRCm39) E76V probably damaging Het
Ccdc150 A G 1: 54,320,930 (GRCm39) K327E probably damaging Het
Ccdc171 A G 4: 83,522,362 (GRCm39) E342G probably damaging Het
Cd109 G A 9: 78,574,698 (GRCm39) probably null Het
Cep85 C A 4: 133,894,665 (GRCm39) R47L probably damaging Het
Cgrrf1 T A 14: 47,091,331 (GRCm39) V285E probably damaging Het
Ctu1 T C 7: 43,326,042 (GRCm39) S234P probably damaging Het
Dnah3 G A 7: 119,628,205 (GRCm39) T1484I probably damaging Het
Dusp16 G T 6: 134,737,829 (GRCm39) Q70K probably damaging Het
Eri3 T G 4: 117,439,868 (GRCm39) Y187* probably null Het
Evi2a T A 11: 79,418,523 (GRCm39) Y29F possibly damaging Het
Ext2 A G 2: 93,592,999 (GRCm39) S402P possibly damaging Het
Fam76a T A 4: 132,645,055 (GRCm39) Q60L probably damaging Het
Fat3 T C 9: 16,287,381 (GRCm39) N714S probably damaging Het
Fbxw24 T A 9: 109,439,038 (GRCm39) N179I probably damaging Het
Fras1 A G 5: 96,929,251 (GRCm39) N3885S probably benign Het
Grip2 A T 6: 91,784,265 (GRCm39) V12E probably benign Het
Gse1 A T 8: 121,299,049 (GRCm39) Y766F unknown Het
Herc1 C T 9: 66,325,785 (GRCm39) Q1420* probably null Het
Htr1f T A 16: 64,746,831 (GRCm39) I154F probably damaging Het
Hus1b G T 13: 31,131,587 (GRCm39) A24E probably damaging Het
Igkv17-127 A G 6: 67,838,441 (GRCm39) I51V probably damaging Het
Ilk G T 7: 105,390,072 (GRCm39) R149L probably benign Het
Inpp5b T A 4: 124,636,340 (GRCm39) V5E possibly damaging Het
Jak2 A T 19: 29,265,367 (GRCm39) S465C possibly damaging Het
Kif23 T C 9: 61,834,722 (GRCm39) T394A probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lama4 A G 10: 38,921,802 (GRCm39) D441G probably null Het
Ldhd A G 8: 112,356,680 (GRCm39) L27P possibly damaging Het
Lingo1 A G 9: 56,527,512 (GRCm39) I365T probably benign Het
Lyz2 C A 10: 117,118,077 (GRCm39) C24F possibly damaging Het
Map4 T A 9: 109,863,760 (GRCm39) D328E probably benign Het
Matn1 C T 4: 130,673,278 (GRCm39) T82M probably damaging Het
Mfrp T C 9: 44,014,570 (GRCm39) V239A probably damaging Het
Misp G T 10: 79,661,675 (GRCm39) V31F probably benign Het
Muc5ac C T 7: 141,362,569 (GRCm39) T1960I unknown Het
Myh2 T A 11: 67,070,359 (GRCm39) M434K probably benign Het
Myh3 T A 11: 66,982,726 (GRCm39) I815N possibly damaging Het
Myo18a A G 11: 77,709,410 (GRCm39) M507V possibly damaging Het
Nbas T A 12: 13,371,654 (GRCm39) S385T probably benign Het
Nepro G A 16: 44,552,460 (GRCm39) R319K possibly damaging Het
Nlrc3 A T 16: 3,783,396 (GRCm39) C53S probably benign Het
Nudt17 A G 3: 96,614,224 (GRCm39) probably null Het
Nwd2 T G 5: 63,964,665 (GRCm39) C1416W probably damaging Het
Ocln A C 13: 100,676,356 (GRCm39) F46V possibly damaging Het
Or52n3 A T 7: 104,530,204 (GRCm39) N97Y possibly damaging Het
Or5be3 A T 2: 86,864,253 (GRCm39) V104D probably damaging Het
Osbpl5 T C 7: 143,263,526 (GRCm39) K119R probably benign Het
Paf1 T G 7: 28,096,331 (GRCm39) F315V possibly damaging Het
Parp4 T A 14: 56,866,673 (GRCm39) V1079D probably damaging Het
Pcgf6 C T 19: 47,039,219 (GRCm39) A14T unknown Het
Plcxd1 A G 5: 110,251,368 (GRCm39) T315A probably benign Het
Plxnc1 A G 10: 94,758,544 (GRCm39) V384A probably benign Het
Polm G A 11: 5,784,749 (GRCm39) T236I probably damaging Het
Prl7d1 T C 13: 27,898,360 (GRCm39) T50A possibly damaging Het
Reln T C 5: 22,120,105 (GRCm39) D2849G probably damaging Het
Sec16b C T 1: 157,394,894 (GRCm39) R1045C probably damaging Het
Six4 A G 12: 73,150,719 (GRCm39) S609P possibly damaging Het
Slc25a31 A T 3: 40,679,297 (GRCm39) probably null Het
Slc4a2 A G 5: 24,636,317 (GRCm39) N230S probably benign Het
Sorcs1 T C 19: 50,199,208 (GRCm39) Y785C probably damaging Het
Styxl1 A G 5: 135,784,259 (GRCm39) probably null Het
Synm C T 7: 67,383,181 (GRCm39) V1494M possibly damaging Het
Taf7l2 A T 10: 115,949,282 (GRCm39) D81E probably damaging Het
Tamm41 A G 6: 114,993,063 (GRCm39) M230T probably benign Het
Tbc1d12 T G 19: 38,884,490 (GRCm39) M347R probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tm4sf1 A C 3: 57,197,214 (GRCm39) S164A probably damaging Het
Trim67 A G 8: 125,552,956 (GRCm39) H686R probably damaging Het
Trpm1 T C 7: 63,873,446 (GRCm39) L567P probably benign Het
Tsfm A G 10: 126,858,771 (GRCm39) L198P probably damaging Het
Ttc6 A T 12: 57,733,193 (GRCm39) D1112V probably damaging Het
Ttn A G 2: 76,601,922 (GRCm39) V18580A probably benign Het
Ubr1 C A 2: 120,734,506 (GRCm39) Q1131H possibly damaging Het
Uhrf2 C T 19: 30,016,659 (GRCm39) R117C probably benign Het
Vmn2r70 A G 7: 85,215,240 (GRCm39) V98A probably benign Het
Zfp799 T C 17: 33,039,186 (GRCm39) E360G probably damaging Het
Other mutations in Map1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Map1b APN 13 99,565,741 (GRCm39) missense unknown
IGL00533:Map1b APN 13 99,569,112 (GRCm39) missense unknown
IGL00801:Map1b APN 13 99,566,605 (GRCm39) missense unknown
IGL01141:Map1b APN 13 99,571,269 (GRCm39) missense probably damaging 1.00
IGL01418:Map1b APN 13 99,568,338 (GRCm39) missense unknown
IGL01464:Map1b APN 13 99,569,251 (GRCm39) missense unknown
IGL01690:Map1b APN 13 99,571,512 (GRCm39) missense probably damaging 1.00
IGL01991:Map1b APN 13 99,566,077 (GRCm39) missense unknown
IGL02245:Map1b APN 13 99,568,036 (GRCm39) missense unknown
IGL02376:Map1b APN 13 99,572,103 (GRCm39) missense probably damaging 1.00
IGL02380:Map1b APN 13 99,567,651 (GRCm39) missense unknown
IGL02442:Map1b APN 13 99,644,706 (GRCm39) missense probably damaging 1.00
IGL02465:Map1b APN 13 99,569,914 (GRCm39) missense unknown
IGL02816:Map1b APN 13 99,578,263 (GRCm39) missense probably damaging 1.00
IGL02859:Map1b APN 13 99,569,544 (GRCm39) missense unknown
IGL02934:Map1b APN 13 99,571,639 (GRCm39) missense probably benign 0.09
IGL02970:Map1b APN 13 99,567,242 (GRCm39) nonsense probably null
IGL03148:Map1b APN 13 99,578,203 (GRCm39) missense probably damaging 1.00
IGL03401:Map1b APN 13 99,563,776 (GRCm39) missense unknown
IGL03138:Map1b UTSW 13 99,562,334 (GRCm39) missense unknown
R0006:Map1b UTSW 13 99,571,810 (GRCm39) missense probably damaging 1.00
R0006:Map1b UTSW 13 99,571,810 (GRCm39) missense probably damaging 1.00
R0035:Map1b UTSW 13 99,571,846 (GRCm39) missense probably damaging 1.00
R0069:Map1b UTSW 13 99,566,356 (GRCm39) missense unknown
R0315:Map1b UTSW 13 99,567,624 (GRCm39) missense unknown
R0539:Map1b UTSW 13 99,570,526 (GRCm39) missense unknown
R0548:Map1b UTSW 13 99,568,191 (GRCm39) missense unknown
R0613:Map1b UTSW 13 99,578,149 (GRCm39) missense probably damaging 1.00
R0730:Map1b UTSW 13 99,566,274 (GRCm39) nonsense probably null
R1103:Map1b UTSW 13 99,563,974 (GRCm39) splice site probably benign
R1300:Map1b UTSW 13 99,569,029 (GRCm39) missense unknown
R1353:Map1b UTSW 13 99,563,834 (GRCm39) missense unknown
R1387:Map1b UTSW 13 99,569,158 (GRCm39) missense unknown
R1481:Map1b UTSW 13 99,567,679 (GRCm39) missense unknown
R1509:Map1b UTSW 13 99,568,036 (GRCm39) missense unknown
R1521:Map1b UTSW 13 99,569,247 (GRCm39) missense unknown
R1604:Map1b UTSW 13 99,566,080 (GRCm39) missense unknown
R1649:Map1b UTSW 13 99,652,986 (GRCm39) missense probably benign 0.03
R1651:Map1b UTSW 13 99,569,091 (GRCm39) missense unknown
R1661:Map1b UTSW 13 99,568,437 (GRCm39) missense unknown
R1665:Map1b UTSW 13 99,568,437 (GRCm39) missense unknown
R1770:Map1b UTSW 13 99,567,001 (GRCm39) missense unknown
R1926:Map1b UTSW 13 99,567,200 (GRCm39) missense unknown
R1928:Map1b UTSW 13 99,567,454 (GRCm39) missense unknown
R2093:Map1b UTSW 13 99,566,178 (GRCm39) missense unknown
R2110:Map1b UTSW 13 99,567,629 (GRCm39) missense unknown
R2116:Map1b UTSW 13 99,567,152 (GRCm39) missense unknown
R2164:Map1b UTSW 13 99,565,846 (GRCm39) missense unknown
R2207:Map1b UTSW 13 99,567,591 (GRCm39) missense unknown
R2273:Map1b UTSW 13 99,568,592 (GRCm39) missense unknown
R2443:Map1b UTSW 13 99,566,919 (GRCm39) missense unknown
R3054:Map1b UTSW 13 99,569,250 (GRCm39) missense unknown
R3766:Map1b UTSW 13 99,570,595 (GRCm39) missense unknown
R3911:Map1b UTSW 13 99,567,580 (GRCm39) missense unknown
R4005:Map1b UTSW 13 99,566,415 (GRCm39) missense unknown
R4130:Map1b UTSW 13 99,568,188 (GRCm39) missense unknown
R4513:Map1b UTSW 13 99,580,741 (GRCm39) missense probably damaging 1.00
R4613:Map1b UTSW 13 99,566,810 (GRCm39) nonsense probably null
R4633:Map1b UTSW 13 99,571,450 (GRCm39) missense probably damaging 1.00
R4646:Map1b UTSW 13 99,568,977 (GRCm39) missense unknown
R4690:Map1b UTSW 13 99,567,576 (GRCm39) missense unknown
R4704:Map1b UTSW 13 99,566,983 (GRCm39) missense unknown
R4836:Map1b UTSW 13 99,567,562 (GRCm39) missense unknown
R4916:Map1b UTSW 13 99,569,808 (GRCm39) missense unknown
R4951:Map1b UTSW 13 99,568,935 (GRCm39) missense unknown
R4960:Map1b UTSW 13 99,568,720 (GRCm39) missense probably benign 0.23
R4961:Map1b UTSW 13 99,572,161 (GRCm39) missense probably damaging 1.00
R5030:Map1b UTSW 13 99,570,682 (GRCm39) missense unknown
R5090:Map1b UTSW 13 99,566,534 (GRCm39) nonsense probably null
R5469:Map1b UTSW 13 99,565,846 (GRCm39) missense unknown
R5820:Map1b UTSW 13 99,569,332 (GRCm39) missense unknown
R5885:Map1b UTSW 13 99,566,589 (GRCm39) missense unknown
R5915:Map1b UTSW 13 99,566,839 (GRCm39) missense unknown
R5923:Map1b UTSW 13 99,569,661 (GRCm39) missense unknown
R6063:Map1b UTSW 13 99,567,645 (GRCm39) missense unknown
R6102:Map1b UTSW 13 99,562,381 (GRCm39) missense unknown
R6218:Map1b UTSW 13 99,569,714 (GRCm39) missense unknown
R6435:Map1b UTSW 13 99,652,871 (GRCm39) missense probably damaging 0.99
R6663:Map1b UTSW 13 99,566,530 (GRCm39) missense unknown
R6765:Map1b UTSW 13 99,562,449 (GRCm39) missense unknown
R6860:Map1b UTSW 13 99,571,275 (GRCm39) missense probably damaging 1.00
R6997:Map1b UTSW 13 99,567,142 (GRCm39) missense unknown
R7001:Map1b UTSW 13 99,567,101 (GRCm39) missense unknown
R7310:Map1b UTSW 13 99,570,163 (GRCm39) missense unknown
R7349:Map1b UTSW 13 99,570,148 (GRCm39) missense unknown
R7448:Map1b UTSW 13 99,644,648 (GRCm39) missense probably damaging 0.99
R7449:Map1b UTSW 13 99,644,648 (GRCm39) missense probably damaging 0.99
R7452:Map1b UTSW 13 99,644,648 (GRCm39) missense probably damaging 0.99
R7810:Map1b UTSW 13 99,568,390 (GRCm39) missense unknown
R7820:Map1b UTSW 13 99,567,685 (GRCm39) missense unknown
R8396:Map1b UTSW 13 99,570,621 (GRCm39) missense unknown
R8470:Map1b UTSW 13 99,652,950 (GRCm39) missense probably damaging 0.98
R8535:Map1b UTSW 13 99,571,662 (GRCm39) missense probably damaging 1.00
R8777:Map1b UTSW 13 99,567,304 (GRCm39) missense unknown
R8777-TAIL:Map1b UTSW 13 99,567,304 (GRCm39) missense unknown
R8812:Map1b UTSW 13 99,569,323 (GRCm39) missense unknown
R8903:Map1b UTSW 13 99,569,017 (GRCm39) nonsense probably null
R8928:Map1b UTSW 13 99,568,624 (GRCm39) missense unknown
R8954:Map1b UTSW 13 99,570,735 (GRCm39) missense unknown
R9164:Map1b UTSW 13 99,568,816 (GRCm39) nonsense probably null
R9164:Map1b UTSW 13 99,562,351 (GRCm39) missense unknown
R9190:Map1b UTSW 13 99,571,914 (GRCm39) missense probably damaging 0.99
R9334:Map1b UTSW 13 99,568,148 (GRCm39) missense unknown
R9339:Map1b UTSW 13 99,567,570 (GRCm39) missense unknown
R9357:Map1b UTSW 13 99,566,708 (GRCm39) nonsense probably null
RF003:Map1b UTSW 13 99,567,258 (GRCm39) missense unknown
X0019:Map1b UTSW 13 99,568,920 (GRCm39) missense unknown
X0019:Map1b UTSW 13 99,566,476 (GRCm39) missense unknown
Z1088:Map1b UTSW 13 99,644,623 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- GAGGCTCCTTCTTAGTGGACTC -3'
(R):5'- CTGAGAAGCAAGCCACTGAG -3'

Sequencing Primer
(F):5'- AGTGGACTCTTCTTTCTTCGCTAC -3'
(R):5'- CCAAAGTCACCAAGGACAAAGTGG -3'
Posted On 2022-05-16