Incidental Mutation 'R1928:Map1b'
ID 215094
Institutional Source Beutler Lab
Gene Symbol Map1b
Ensembl Gene ENSMUSG00000052727
Gene Name microtubule-associated protein 1B
Synonyms Mtap1b, MAP5, Mtap-5, Mtap5, LC1
MMRRC Submission 039946-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1928 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 99421446-99516540 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 99430946 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 1756 (S1756A)
Ref Sequence ENSEMBL: ENSMUSP00000068374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064762]
AlphaFold P14873
Predicted Effect unknown
Transcript: ENSMUST00000064762
AA Change: S1756A
SMART Domains Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: S1756A

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
Meta Mutation Damage Score 0.0587 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.6%
Validation Efficiency 98% (120/123)
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: 117 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik T G 6: 132,626,601 (GRCm38) Q64P unknown Het
Adgrv1 A T 13: 81,520,786 (GRCm38) F1830L probably benign Het
Anks3 C T 16: 4,946,054 (GRCm38) probably null Het
Aqp12 G A 1: 93,006,610 (GRCm38) D70N probably damaging Het
B4galnt4 C T 7: 141,068,148 (GRCm38) R526* probably null Het
Best2 A G 8: 85,011,253 (GRCm38) F171S probably benign Het
C2cd5 A T 6: 143,013,230 (GRCm38) V965D probably damaging Het
Cd33 T C 7: 43,529,879 (GRCm38) E282G probably benign Het
Cep95 C T 11: 106,790,728 (GRCm38) probably benign Het
Chd6 A T 2: 160,968,000 (GRCm38) probably benign Het
Clec4d A T 6: 123,267,161 (GRCm38) probably null Het
Cntd1 C T 11: 101,283,852 (GRCm38) S128L probably damaging Het
Col19a1 T C 1: 24,451,754 (GRCm38) probably benign Het
Ctrb1 C A 8: 111,688,692 (GRCm38) V117L probably benign Het
Dclk1 T C 3: 55,247,521 (GRCm38) V124A possibly damaging Het
Dcp2 T C 18: 44,405,571 (GRCm38) probably null Het
Dctn1 C A 6: 83,199,184 (GRCm38) probably benign Het
Dennd11 A G 6: 40,411,714 (GRCm38) F238L probably benign Het
Ephb3 T A 16: 21,222,295 (GRCm38) M701K possibly damaging Het
Ero1b A G 13: 12,601,759 (GRCm38) E359G probably damaging Het
Exosc8 G T 3: 54,728,845 (GRCm38) A255E probably damaging Het
Fhip1a G A 3: 85,688,531 (GRCm38) P349L probably damaging Het
Fndc3c1 C T X: 106,433,522 (GRCm38) A824T probably benign Het
Gja10 G A 4: 32,601,812 (GRCm38) Q191* probably null Het
Gm1587 C T 14: 77,798,848 (GRCm38) R6Q unknown Het
Gm3409 A G 5: 146,539,608 (GRCm38) I190V probably benign Het
Gm4952 G T 19: 12,623,609 (GRCm38) M64I probably damaging Het
Gramd1b C T 9: 40,306,469 (GRCm38) M595I possibly damaging Het
Grik1 C T 16: 88,051,353 (GRCm38) V176M probably damaging Het
Grin2b A G 6: 136,044,046 (GRCm38) C86R probably damaging Het
Gtse1 C T 15: 85,862,063 (GRCm38) probably benign Het
Hectd2 T C 19: 36,612,319 (GRCm38) Y615H probably damaging Het
Hydin T C 8: 110,502,947 (GRCm38) F1552S possibly damaging Het
Ifi207 A G 1: 173,729,645 (GRCm38) V516A possibly damaging Het
Igfbp5 G T 1: 72,874,025 (GRCm38) P39T probably damaging Het
Il23r T A 6: 67,423,735 (GRCm38) D537V possibly damaging Het
Invs A G 4: 48,390,095 (GRCm38) Y251C probably damaging Het
Isl1 G T 13: 116,308,417 (GRCm38) H25Q probably damaging Het
Kif13a A G 13: 46,812,745 (GRCm38) L399P probably damaging Het
Klhl1 A G 14: 96,346,789 (GRCm38) V335A probably benign Het
Klhl14 C A 18: 21,651,786 (GRCm38) A195S probably damaging Het
Lepr A G 4: 101,782,730 (GRCm38) probably benign Het
Med23 C T 10: 24,909,812 (GRCm38) A877V probably benign Het
Mfsd4b2 T C 10: 39,921,462 (GRCm38) Y299C probably damaging Het
Mipol1 T A 12: 57,332,419 (GRCm38) M221K probably damaging Het
Muc4 A T 16: 32,750,532 (GRCm38) S137C probably damaging Het
Mutyh T C 4: 116,816,658 (GRCm38) Y189H probably damaging Het
Nabp2 T C 10: 128,409,313 (GRCm38) T21A possibly damaging Het
Nalf1 T C 8: 9,770,217 (GRCm38) T268A probably benign Het
Nell1 T A 7: 50,701,195 (GRCm38) V530E possibly damaging Het
Npc1 G C 18: 12,213,378 (GRCm38) P254A possibly damaging Het
Nup153 A G 13: 46,701,026 (GRCm38) V530A probably damaging Het
Nxpe2 T C 9: 48,326,614 (GRCm38) T114A probably damaging Het
Or10j5 T C 1: 172,957,314 (GRCm38) V173A probably damaging Het
Or11h4b A G 14: 50,681,415 (GRCm38) V73A probably benign Het
Or7e177 T C 9: 20,301,058 (GRCm38) V287A probably benign Het
Pabpc1l T A 2: 164,032,254 (GRCm38) I193N possibly damaging Het
Pabpc4l A G 3: 46,446,631 (GRCm38) Y193H probably damaging Het
Pank1 T C 19: 34,878,881 (GRCm38) S66G probably benign Het
Pcdhb1 A T 18: 37,266,180 (GRCm38) K395* probably null Het
Pcna A G 2: 132,251,897 (GRCm38) probably benign Het
Pgr T A 9: 8,903,629 (GRCm38) Y550* probably null Het
Phf11a A G 14: 59,281,867 (GRCm38) probably benign Het
Pkhd1 A T 1: 20,081,300 (GRCm38) probably benign Het
Pofut2 T A 10: 77,260,808 (GRCm38) Y122* probably null Het
Pole A G 5: 110,327,778 (GRCm38) M1818V probably benign Het
Rapgef3 A G 15: 97,750,033 (GRCm38) L696P probably damaging Het
Rasal3 T C 17: 32,397,353 (GRCm38) D310G probably damaging Het
Rhoq A G 17: 86,995,058 (GRCm38) K141E probably benign Het
Rilpl1 A G 5: 124,514,750 (GRCm38) probably benign Het
Rnaseh1 T C 12: 28,653,089 (GRCm38) S91P probably benign Het
Rsf1 G GACGGCGGCT 7: 97,579,909 (GRCm38) probably benign Het
Saa1 C A 7: 46,742,432 (GRCm38) G31W probably null Het
Saxo5 T A 8: 3,486,947 (GRCm38) I431K possibly damaging Het
Scaf8 A G 17: 3,168,077 (GRCm38) T241A unknown Het
Scarb2 C T 5: 92,444,266 (GRCm38) A473T possibly damaging Het
Scnn1b T C 7: 121,910,447 (GRCm38) F273S probably damaging Het
Sdccag8 T C 1: 176,828,970 (GRCm38) V136A probably damaging Het
Sdr16c6 A T 4: 4,069,926 (GRCm38) V138E probably damaging Het
Sf3a3 G A 4: 124,722,093 (GRCm38) A180T possibly damaging Het
Slc16a5 T A 11: 115,470,016 (GRCm38) S342T probably damaging Het
Slc18a1 A G 8: 69,073,812 (GRCm38) S75P probably benign Het
Slc7a6 T A 8: 106,193,488 (GRCm38) probably benign Het
Smco3 G A 6: 136,831,847 (GRCm38) Q10* probably null Het
Spem2 T C 11: 69,817,464 (GRCm38) Q225R probably benign Het
Ssb G T 2: 69,867,557 (GRCm38) probably null Het
Stx8 T C 11: 68,109,280 (GRCm38) I182T probably damaging Het
Synj2 T A 17: 5,990,267 (GRCm38) I121N probably damaging Het
Tbc1d1 T C 5: 64,345,300 (GRCm38) Y1055H probably damaging Het
Thbs3 G T 3: 89,217,760 (GRCm38) R52L probably damaging Het
Tmem101 C T 11: 102,153,396 (GRCm38) V222I probably benign Het
Tnks2 C T 19: 36,845,668 (GRCm38) Q112* probably null Het
Tnrc6b T A 15: 80,880,723 (GRCm38) W809R probably damaging Het
Trib2 T A 12: 15,815,453 (GRCm38) R16S probably damaging Het
Trim12a T C 7: 104,307,124 (GRCm38) N70D probably damaging Het
Trim55 T A 3: 19,661,882 (GRCm38) probably null Het
Tspyl5 T A 15: 33,687,007 (GRCm38) D264V probably damaging Het
Ttn A G 2: 76,725,044 (GRCm38) V30539A probably damaging Het
Tubgcp3 A G 8: 12,663,988 (GRCm38) F43S possibly damaging Het
Tut7 A G 13: 59,816,734 (GRCm38) L209P probably damaging Het
Ube3d A G 9: 86,423,003 (GRCm38) L262P probably damaging Het
Ugt1a7c T C 1: 88,095,929 (GRCm38) V270A probably benign Het
Vav3 T A 3: 109,506,422 (GRCm38) F225L possibly damaging Het
Vmn1r21 G T 6: 57,844,092 (GRCm38) Y122* probably null Het
Vmn1r225 C A 17: 20,502,809 (GRCm38) Q171K probably benign Het
Vmn2r103 T C 17: 19,811,767 (GRCm38) V601A possibly damaging Het
Vmn2r19 T A 6: 123,331,630 (GRCm38) N555K probably damaging Het
Vps33a G A 5: 123,558,621 (GRCm38) A323V probably benign Het
Wdr77 C T 3: 105,967,302 (GRCm38) P337S probably benign Het
Wnk1 A T 6: 119,952,923 (GRCm38) I93N probably damaging Het
Zbtb9 T A 17: 26,974,638 (GRCm38) I339N probably damaging Het
Zfp202 T A 9: 40,209,787 (GRCm38) D241E probably damaging Het
Zfp235 T A 7: 24,141,138 (GRCm38) Y327* probably null Het
Zfp820 A C 17: 21,819,335 (GRCm38) D337E probably benign Het
Zfp944 T C 17: 22,341,084 (GRCm38) T14A probably damaging Het
Zfy1 A G Y: 729,733 (GRCm38) V303A unknown Het
Zfyve26 C T 12: 79,239,970 (GRCm38) W2281* probably null Het
Other mutations in Map1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Map1b APN 13 99,429,233 (GRCm38) missense unknown
IGL00533:Map1b APN 13 99,432,604 (GRCm38) missense unknown
IGL00801:Map1b APN 13 99,430,097 (GRCm38) missense unknown
IGL01141:Map1b APN 13 99,434,761 (GRCm38) missense probably damaging 1.00
IGL01418:Map1b APN 13 99,431,830 (GRCm38) missense unknown
IGL01464:Map1b APN 13 99,432,743 (GRCm38) missense unknown
IGL01690:Map1b APN 13 99,435,004 (GRCm38) missense probably damaging 1.00
IGL01991:Map1b APN 13 99,429,569 (GRCm38) missense unknown
IGL02245:Map1b APN 13 99,431,528 (GRCm38) missense unknown
IGL02376:Map1b APN 13 99,435,595 (GRCm38) missense probably damaging 1.00
IGL02380:Map1b APN 13 99,431,143 (GRCm38) missense unknown
IGL02442:Map1b APN 13 99,508,198 (GRCm38) missense probably damaging 1.00
IGL02465:Map1b APN 13 99,433,406 (GRCm38) missense unknown
IGL02816:Map1b APN 13 99,441,755 (GRCm38) missense probably damaging 1.00
IGL02859:Map1b APN 13 99,433,036 (GRCm38) missense unknown
IGL02934:Map1b APN 13 99,435,131 (GRCm38) missense probably benign 0.09
IGL02970:Map1b APN 13 99,430,734 (GRCm38) nonsense probably null
IGL03148:Map1b APN 13 99,441,695 (GRCm38) missense probably damaging 1.00
IGL03401:Map1b APN 13 99,427,268 (GRCm38) missense unknown
IGL03138:Map1b UTSW 13 99,425,826 (GRCm38) missense unknown
R0006:Map1b UTSW 13 99,435,302 (GRCm38) missense probably damaging 1.00
R0006:Map1b UTSW 13 99,435,302 (GRCm38) missense probably damaging 1.00
R0035:Map1b UTSW 13 99,435,338 (GRCm38) missense probably damaging 1.00
R0069:Map1b UTSW 13 99,429,848 (GRCm38) missense unknown
R0315:Map1b UTSW 13 99,431,116 (GRCm38) missense unknown
R0539:Map1b UTSW 13 99,434,018 (GRCm38) missense unknown
R0548:Map1b UTSW 13 99,431,683 (GRCm38) missense unknown
R0613:Map1b UTSW 13 99,441,641 (GRCm38) missense probably damaging 1.00
R0730:Map1b UTSW 13 99,429,766 (GRCm38) nonsense probably null
R1103:Map1b UTSW 13 99,427,466 (GRCm38) splice site probably benign
R1300:Map1b UTSW 13 99,432,521 (GRCm38) missense unknown
R1353:Map1b UTSW 13 99,427,326 (GRCm38) missense unknown
R1387:Map1b UTSW 13 99,432,650 (GRCm38) missense unknown
R1481:Map1b UTSW 13 99,431,171 (GRCm38) missense unknown
R1509:Map1b UTSW 13 99,431,528 (GRCm38) missense unknown
R1521:Map1b UTSW 13 99,432,739 (GRCm38) missense unknown
R1604:Map1b UTSW 13 99,429,572 (GRCm38) missense unknown
R1649:Map1b UTSW 13 99,516,478 (GRCm38) missense probably benign 0.03
R1651:Map1b UTSW 13 99,432,583 (GRCm38) missense unknown
R1661:Map1b UTSW 13 99,431,929 (GRCm38) missense unknown
R1665:Map1b UTSW 13 99,431,929 (GRCm38) missense unknown
R1770:Map1b UTSW 13 99,430,493 (GRCm38) missense unknown
R1926:Map1b UTSW 13 99,430,692 (GRCm38) missense unknown
R2093:Map1b UTSW 13 99,429,670 (GRCm38) missense unknown
R2110:Map1b UTSW 13 99,431,121 (GRCm38) missense unknown
R2116:Map1b UTSW 13 99,430,644 (GRCm38) missense unknown
R2164:Map1b UTSW 13 99,429,338 (GRCm38) missense unknown
R2207:Map1b UTSW 13 99,431,083 (GRCm38) missense unknown
R2273:Map1b UTSW 13 99,432,084 (GRCm38) missense unknown
R2443:Map1b UTSW 13 99,430,411 (GRCm38) missense unknown
R3054:Map1b UTSW 13 99,432,742 (GRCm38) missense unknown
R3766:Map1b UTSW 13 99,434,087 (GRCm38) missense unknown
R3911:Map1b UTSW 13 99,431,072 (GRCm38) missense unknown
R4005:Map1b UTSW 13 99,429,907 (GRCm38) missense unknown
R4130:Map1b UTSW 13 99,431,680 (GRCm38) missense unknown
R4513:Map1b UTSW 13 99,444,233 (GRCm38) missense probably damaging 1.00
R4613:Map1b UTSW 13 99,430,302 (GRCm38) nonsense probably null
R4633:Map1b UTSW 13 99,434,942 (GRCm38) missense probably damaging 1.00
R4646:Map1b UTSW 13 99,432,469 (GRCm38) missense unknown
R4690:Map1b UTSW 13 99,431,068 (GRCm38) missense unknown
R4704:Map1b UTSW 13 99,430,475 (GRCm38) missense unknown
R4836:Map1b UTSW 13 99,431,054 (GRCm38) missense unknown
R4916:Map1b UTSW 13 99,433,300 (GRCm38) missense unknown
R4951:Map1b UTSW 13 99,432,427 (GRCm38) missense unknown
R4960:Map1b UTSW 13 99,432,212 (GRCm38) missense probably benign 0.23
R4961:Map1b UTSW 13 99,435,653 (GRCm38) missense probably damaging 1.00
R5030:Map1b UTSW 13 99,434,174 (GRCm38) missense unknown
R5090:Map1b UTSW 13 99,430,026 (GRCm38) nonsense probably null
R5469:Map1b UTSW 13 99,429,338 (GRCm38) missense unknown
R5820:Map1b UTSW 13 99,432,824 (GRCm38) missense unknown
R5885:Map1b UTSW 13 99,430,081 (GRCm38) missense unknown
R5915:Map1b UTSW 13 99,430,331 (GRCm38) missense unknown
R5923:Map1b UTSW 13 99,433,153 (GRCm38) missense unknown
R6063:Map1b UTSW 13 99,431,137 (GRCm38) missense unknown
R6102:Map1b UTSW 13 99,425,873 (GRCm38) missense unknown
R6218:Map1b UTSW 13 99,433,206 (GRCm38) missense unknown
R6435:Map1b UTSW 13 99,516,363 (GRCm38) missense probably damaging 0.99
R6663:Map1b UTSW 13 99,430,022 (GRCm38) missense unknown
R6765:Map1b UTSW 13 99,425,941 (GRCm38) missense unknown
R6860:Map1b UTSW 13 99,434,767 (GRCm38) missense probably damaging 1.00
R6997:Map1b UTSW 13 99,430,634 (GRCm38) missense unknown
R7001:Map1b UTSW 13 99,430,593 (GRCm38) missense unknown
R7310:Map1b UTSW 13 99,433,655 (GRCm38) missense unknown
R7349:Map1b UTSW 13 99,433,640 (GRCm38) missense unknown
R7448:Map1b UTSW 13 99,508,140 (GRCm38) missense probably damaging 0.99
R7449:Map1b UTSW 13 99,508,140 (GRCm38) missense probably damaging 0.99
R7452:Map1b UTSW 13 99,508,140 (GRCm38) missense probably damaging 0.99
R7810:Map1b UTSW 13 99,431,882 (GRCm38) missense unknown
R7820:Map1b UTSW 13 99,431,177 (GRCm38) missense unknown
R8396:Map1b UTSW 13 99,434,113 (GRCm38) missense unknown
R8470:Map1b UTSW 13 99,516,442 (GRCm38) missense probably damaging 0.98
R8535:Map1b UTSW 13 99,435,154 (GRCm38) missense probably damaging 1.00
R8777:Map1b UTSW 13 99,430,796 (GRCm38) missense unknown
R8777-TAIL:Map1b UTSW 13 99,430,796 (GRCm38) missense unknown
R8812:Map1b UTSW 13 99,432,815 (GRCm38) missense unknown
R8903:Map1b UTSW 13 99,432,509 (GRCm38) nonsense probably null
R8928:Map1b UTSW 13 99,432,116 (GRCm38) missense unknown
R8954:Map1b UTSW 13 99,434,227 (GRCm38) missense unknown
R9164:Map1b UTSW 13 99,432,308 (GRCm38) nonsense probably null
R9164:Map1b UTSW 13 99,425,843 (GRCm38) missense unknown
R9190:Map1b UTSW 13 99,435,406 (GRCm38) missense probably damaging 0.99
R9334:Map1b UTSW 13 99,431,640 (GRCm38) missense unknown
R9339:Map1b UTSW 13 99,431,062 (GRCm38) missense unknown
R9357:Map1b UTSW 13 99,430,200 (GRCm38) nonsense probably null
R9430:Map1b UTSW 13 99,434,108 (GRCm38) missense unknown
RF003:Map1b UTSW 13 99,430,750 (GRCm38) missense unknown
X0019:Map1b UTSW 13 99,432,412 (GRCm38) missense unknown
X0019:Map1b UTSW 13 99,429,968 (GRCm38) missense unknown
Z1088:Map1b UTSW 13 99,508,115 (GRCm38) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- AGGCCAGATGATGTTGCATTG -3'
(R):5'- TTTGTCGCATAAGATCCCGC -3'

Sequencing Primer
(F):5'- CCATAGGGCTCTGCTGTTGC -3'
(R):5'- GCCAACGGAAGAGCCATC -3'
Posted On 2014-07-14