Incidental Mutation 'R4960:Map1b'
ID 382316
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 042557-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4960 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 99421446-99516540 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99432212 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1334 (S1334P)
Ref Sequence ENSEMBL: ENSMUSP00000068374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064762]
AlphaFold P14873
Predicted Effect probably benign
Transcript: ENSMUST00000064762
AA Change: S1334P

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: S1334P

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: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931428F04Rik G T 8: 105,283,211 (GRCm38) R369S probably damaging Het
Abcc9 A T 6: 142,620,783 (GRCm38) probably null Het
Adamts20 T C 15: 94,379,774 (GRCm38) H269R probably benign Het
Adamtsl1 C T 4: 86,424,173 (GRCm38) Q1642* probably null Het
Adamtsl3 A C 7: 82,566,977 (GRCm38) T863P probably damaging Het
Adcy3 G T 12: 4,134,896 (GRCm38) V191L probably benign Het
Akap9 G T 5: 3,957,664 (GRCm38) R244L probably benign Het
Als2cr12 T A 1: 58,667,806 (GRCm38) E234V probably damaging Het
Anapc1 C T 2: 128,684,594 (GRCm38) V95M probably benign Het
Arhgap17 G T 7: 123,286,926 (GRCm38) probably benign Het
Arntl T A 7: 113,299,435 (GRCm38) probably null Het
Art2b T A 7: 101,580,230 (GRCm38) Y154F probably damaging Het
Atrn C T 2: 130,995,047 (GRCm38) R1144* probably null Het
Atxn3 T C 12: 101,948,379 (GRCm38) S29G possibly damaging Het
Batf3 C T 1: 191,098,510 (GRCm38) P18S probably benign Het
Bmpr1b A T 3: 141,870,785 (GRCm38) C96S probably damaging Het
Bola1 A G 3: 96,197,054 (GRCm38) S75P probably benign Het
Btbd11 A C 10: 85,651,662 (GRCm38) N998T probably benign Het
Cela3a G A 4: 137,402,648 (GRCm38) R221* probably null Het
Chat A G 14: 32,420,814 (GRCm38) V406A possibly damaging Het
Chd1 T A 17: 15,742,231 (GRCm38) M750K probably damaging Het
Clip1 T A 5: 123,654,003 (GRCm38) K35* probably null Het
Cnr2 G A 4: 135,917,607 (GRCm38) G332D probably benign Het
Cnrip1 A G 11: 17,052,228 (GRCm38) D20G probably damaging Het
Col2a1 T C 15: 97,976,149 (GRCm38) Y1384C unknown Het
Col6a3 T A 1: 90,804,218 (GRCm38) I831F probably damaging Het
Cp G A 3: 19,973,797 (GRCm38) V456I probably damaging Het
Cspp1 T A 1: 10,126,463 (GRCm38) N900K probably damaging Het
Ctbp2 T C 7: 133,014,238 (GRCm38) I323V probably benign Het
Ctnna2 C T 6: 77,653,111 (GRCm38) R120H probably damaging Het
Cyp2a12 A G 7: 27,034,150 (GRCm38) H318R probably benign Het
Cyp2c66 A T 19: 39,163,322 (GRCm38) probably null Het
Cyp2j8 T C 4: 96,507,377 (GRCm38) T4A probably benign Het
Cyp4v3 A G 8: 45,320,637 (GRCm38) V165A possibly damaging Het
D5Ertd579e G A 5: 36,616,227 (GRCm38) R275* probably null Het
Deup1 G T 9: 15,600,968 (GRCm38) Q160K possibly damaging Het
Dhx36 A T 3: 62,496,859 (GRCm38) I221K probably damaging Het
Dnah7b T A 1: 46,233,726 (GRCm38) M2338K probably benign Het
Dync2li1 T G 17: 84,633,541 (GRCm38) L62V probably benign Het
Ephb3 A G 16: 21,220,495 (GRCm38) K367R probably benign Het
Etv3 A G 3: 87,528,061 (GRCm38) K80E probably damaging Het
Gdap1l1 T C 2: 163,453,859 (GRCm38) F346L probably benign Het
Gm12794 T C 4: 101,941,464 (GRCm38) Y211H probably benign Het
Gm4787 C T 12: 81,379,316 (GRCm38) V23M probably damaging Het
Greb1l T A 18: 10,547,306 (GRCm38) I1508N probably damaging Het
Heatr5b G A 17: 78,831,584 (GRCm38) T43I probably benign Het
Hephl1 T C 9: 15,086,290 (GRCm38) Y360C probably damaging Het
Itgam A C 7: 128,115,840 (GRCm38) T865P possibly damaging Het
Kcnma1 T C 14: 24,004,118 (GRCm38) probably benign Het
Kidins220 T A 12: 24,992,260 (GRCm38) C185* probably null Het
Klhl35 G T 7: 99,469,068 (GRCm38) G273V probably damaging Het
Lama5 A G 2: 180,208,252 (GRCm38) probably null Het
Lamc3 A G 2: 31,915,954 (GRCm38) Q689R probably benign Het
Lnx2 C T 5: 147,019,040 (GRCm38) V649I probably benign Het
Lrrc43 A G 5: 123,499,612 (GRCm38) I281V probably benign Het
Ly6g6d C A 17: 35,071,754 (GRCm38) A67S probably benign Het
Marc2 T A 1: 184,833,919 (GRCm38) M186L probably benign Het
Mast1 T A 8: 84,917,871 (GRCm38) T810S probably benign Het
Mbnl1 A G 3: 60,595,696 (GRCm38) M1V probably null Het
Mc5r T G 18: 68,338,819 (GRCm38) M83R possibly damaging Het
Mkln1 T C 6: 31,459,006 (GRCm38) F300S probably damaging Het
Mrgpre A T 7: 143,781,351 (GRCm38) C138* probably null Het
Ncbp1 C T 4: 46,165,273 (GRCm38) Q529* probably null Het
Nrcam A G 12: 44,566,299 (GRCm38) D591G probably benign Het
Nrxn3 A T 12: 88,795,201 (GRCm38) H6L possibly damaging Het
Nsmaf T A 4: 6,423,342 (GRCm38) D342V probably damaging Het
Oip5 TGAGAAA T 2: 119,617,861 (GRCm38) probably benign Het
Olfr1318 A G 2: 112,156,352 (GRCm38) T134A probably benign Het
Olfr202 A G 16: 59,283,985 (GRCm38) S171P probably benign Het
Olfr459 C A 6: 41,772,069 (GRCm38) V77F probably damaging Het
Olfr667 A G 7: 104,916,708 (GRCm38) I196T probably benign Het
Olfr794 A C 10: 129,571,026 (GRCm38) I124L probably damaging Het
Omt2a T A 9: 78,313,023 (GRCm38) E31D possibly damaging Het
Phyhipl A G 10: 70,568,985 (GRCm38) V131A probably benign Het
Pik3r5 A G 11: 68,493,638 (GRCm38) M619V probably benign Het
Ptprg A T 14: 12,237,837 (GRCm38) E1431D probably benign Het
Rnf20 A G 4: 49,638,029 (GRCm38) T85A probably damaging Het
Rtn3 A T 19: 7,456,521 (GRCm38) I683K probably damaging Het
Rwdd3 A G 3: 121,158,821 (GRCm38) F174L probably damaging Het
Ryr1 T C 7: 29,078,783 (GRCm38) Q2096R possibly damaging Het
Scrn1 T C 6: 54,534,422 (GRCm38) D111G probably damaging Het
Sema3e A G 5: 14,252,632 (GRCm38) R724G possibly damaging Het
She A G 3: 89,834,237 (GRCm38) M232V possibly damaging Het
Slc25a54 A T 3: 109,112,816 (GRCm38) N382I possibly damaging Het
Slc26a2 T C 18: 61,198,803 (GRCm38) M519V probably damaging Het
Slc9a1 T A 4: 133,370,656 (GRCm38) L38H probably damaging Het
Slc9a3r1 A G 11: 115,176,463 (GRCm38) D180G probably benign Het
Snap47 A T 11: 59,428,543 (GRCm38) D256E probably damaging Het
Tacc3 A G 5: 33,671,982 (GRCm38) T610A probably benign Het
Tbc1d30 G A 10: 121,267,216 (GRCm38) T637M probably benign Het
Tbcd T A 11: 121,573,855 (GRCm38) M572K probably benign Het
Thoc7 A T 14: 13,953,460 (GRCm38) D68E probably benign Het
Tmpo G A 10: 91,153,309 (GRCm38) T250M probably damaging Het
Tmtc1 TGTCCGCCAGGCCCTTGCCCCAGAAGTC TGTC 6: 148,443,947 (GRCm38) probably benign Het
Tnfaip1 A T 11: 78,527,570 (GRCm38) C224S possibly damaging Het
Tshz1 T C 18: 84,014,862 (GRCm38) T474A probably benign Het
Tspoap1 C T 11: 87,766,396 (GRCm38) Q345* probably null Het
Ttc21a A G 9: 119,945,001 (GRCm38) E258G possibly damaging Het
Ttc37 T A 13: 76,185,156 (GRCm38) V1508E possibly damaging Het
Ttyh1 T C 7: 4,128,226 (GRCm38) L232P probably damaging Het
Usp2 T A 9: 44,075,813 (GRCm38) L136Q probably damaging Het
Usp31 T C 7: 121,648,645 (GRCm38) S1192G probably damaging 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
R1928:Map1b UTSW 13 99,430,946 (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
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'- GGAGACAGAACCTTCTCCACAG -3'
(R):5'- AGAGTCCATCCCTGAGTCCTTC -3'

Sequencing Primer
(F):5'- ACAGGAGACTCTGAGTCA -3'
(R):5'- GAACGTAGCGTGAATTTCTCTCTGAC -3'
Posted On 2016-04-27