Incidental Mutation 'R5820:Map1b'
ID 449890
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 043400-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5820 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 99557954-99653048 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99569332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1130 (M1130L)
Ref Sequence ENSEMBL: ENSMUSP00000068374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064762]
AlphaFold P14873
Predicted Effect unknown
Transcript: ENSMUST00000064762
AA Change: M1130L
SMART Domains Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: M1130L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223693
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224702
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,841,607 (GRCm39) Y596H probably benign Het
Adgrg3 A T 8: 95,766,221 (GRCm39) M351L possibly damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgef38 A T 3: 132,866,560 (GRCm39) D192E probably benign Het
Arhgef40 T C 14: 52,224,953 (GRCm39) F33L possibly damaging Het
Arid1b A G 17: 5,046,529 (GRCm39) Y439C possibly damaging Het
Bltp1 T C 3: 37,093,675 (GRCm39) V875A probably benign Het
Bop1 G A 15: 76,339,041 (GRCm39) P386S probably damaging Het
Cacna1s A G 1: 136,007,342 (GRCm39) H453R probably damaging Het
Canx A G 11: 50,199,210 (GRCm39) V153A probably damaging Het
Chfr T A 5: 110,310,605 (GRCm39) D475E possibly damaging Het
Clcn7 A C 17: 25,368,026 (GRCm39) K208T probably damaging Het
Cmya5 G T 13: 93,229,288 (GRCm39) N1933K probably benign Het
CN725425 A G 15: 91,144,900 (GRCm39) T588A possibly damaging Het
Cwh43 G A 5: 73,585,975 (GRCm39) W358* probably null Het
Cyfip2 A T 11: 46,091,531 (GRCm39) W1130R probably damaging Het
Ddx60 A T 8: 62,409,155 (GRCm39) D397V possibly damaging Het
Disp1 T C 1: 182,917,151 (GRCm39) S92G probably benign Het
Dusp6 A G 10: 99,099,864 (GRCm39) D104G possibly damaging Het
Dzank1 C T 2: 144,355,408 (GRCm39) V96M probably damaging Het
Ecscr C A 18: 35,850,320 (GRCm39) V52F possibly damaging Het
Epha7 A T 4: 28,949,365 (GRCm39) N712I probably damaging Het
Eva1a C T 6: 82,048,154 (GRCm39) P11S probably benign Het
Fam187b T C 7: 30,676,577 (GRCm39) C29R probably damaging Het
Fau T C 19: 6,109,452 (GRCm39) V117A probably benign Het
Fbxw11 A G 11: 32,685,374 (GRCm39) D369G probably damaging Het
Fkbp15 A G 4: 62,263,783 (GRCm39) F95L probably benign Het
Fkbp6 A T 5: 135,368,774 (GRCm39) probably null Het
Fmo9 T C 1: 166,492,170 (GRCm39) K367E possibly damaging Het
Gad2 T C 2: 22,580,261 (GRCm39) V554A probably benign Het
Gm18025 T C 12: 34,340,631 (GRCm39) D154G probably benign Het
Gm4353 A G 7: 115,683,693 (GRCm39) F34S possibly damaging Het
Gucy2e A G 11: 69,123,522 (GRCm39) I459T probably benign Het
Hpx A G 7: 105,240,995 (GRCm39) I426T possibly damaging Het
Hspa9 T C 18: 35,076,227 (GRCm39) T362A possibly damaging Het
Insr G A 8: 3,205,976 (GRCm39) P1271L probably damaging Het
Jarid2 G A 13: 45,055,777 (GRCm39) V328I possibly damaging Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kif18b A G 11: 102,803,874 (GRCm39) S429P probably benign Het
Lats1 A T 10: 7,581,672 (GRCm39) H819L probably damaging Het
Lmnb1 T A 18: 56,873,858 (GRCm39) D421E possibly damaging Het
Lrp4 T C 2: 91,322,960 (GRCm39) I1148T probably damaging Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Myh6 T C 14: 55,196,137 (GRCm39) Y554C probably damaging Het
Myl4 T C 11: 104,474,806 (GRCm39) F52L probably damaging Het
Nol12 C T 15: 78,824,680 (GRCm39) T169I probably benign Het
Nrde2 C T 12: 100,098,546 (GRCm39) R707H probably benign Het
Oasl1 G A 5: 115,075,037 (GRCm39) V366M possibly damaging Het
Or8b47 T C 9: 38,435,895 (GRCm39) I289T possibly damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Polrmt C T 10: 79,574,157 (GRCm39) probably null Het
Ppil4 A G 10: 7,686,174 (GRCm39) D344G probably null Het
Ppp2r3d C T 9: 124,422,765 (GRCm38) A69T possibly damaging Het
Prmt3 C T 7: 49,498,554 (GRCm39) P487S probably damaging Het
Ptprm A T 17: 66,996,460 (GRCm39) L1209H probably damaging Het
Rnf115 G A 3: 96,635,164 (GRCm39) probably benign Het
Sec63 A G 10: 42,672,241 (GRCm39) D185G possibly damaging Het
Sema4b T C 7: 79,874,706 (GRCm39) S699P probably damaging Het
Serpinb3d T G 1: 107,006,089 (GRCm39) E333A probably damaging Het
Sh3rf2 T C 18: 42,274,112 (GRCm39) L426P possibly damaging Het
Slco6d1 A G 1: 98,427,503 (GRCm39) I611M probably damaging Het
Stk31 T A 6: 49,394,219 (GRCm39) Y194N probably damaging Het
Tlr9 G A 9: 106,099,906 (GRCm39) probably null Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Vmn1r188 G A 13: 22,272,256 (GRCm39) G70D possibly damaging Het
Zfp318 A G 17: 46,723,699 (GRCm39) M1901V probably benign Het
Zfp407 A T 18: 84,578,649 (GRCm39) D821E probably benign 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
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
R9430:Map1b UTSW 13 99,570,616 (GRCm39) missense unknown
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'- TTCCATGGACGAAGGTGGTG -3'
(R):5'- ATCCAGTCTCCTAGCCGAGAAC -3'

Sequencing Primer
(F):5'- CGGAAGCGTTGTAATCCTTAC -3'
(R):5'- CGAGAACCTGCATCTTCAATTCATG -3'
Posted On 2016-12-20