Incidental Mutation 'R1926:Map1b'
ID 213472
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 039944-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1926 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 99557954-99653048 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99567200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 1840 (H1840Q)
Ref Sequence ENSEMBL: ENSMUSP00000068374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064762]
AlphaFold P14873
Predicted Effect unknown
Transcript: ENSMUST00000064762
AA Change: H1840Q
SMART Domains Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: H1840Q

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: 97.3%
  • 3x: 96.7%
  • 10x: 95.0%
  • 20x: 91.6%
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 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
Acsm3 C T 7: 119,376,359 (GRCm39) T362M probably damaging Het
Ang6 A G 14: 44,239,695 (GRCm39) V11A possibly damaging Het
Ankrd17 A G 5: 90,392,028 (GRCm39) Y1880H probably damaging Het
Bmi1 A G 2: 18,687,084 (GRCm39) I55V probably benign Het
Bnipl G A 3: 95,150,354 (GRCm39) T297M probably damaging Het
Bpifa2 T C 2: 153,855,669 (GRCm39) V198A probably benign Het
Brms1l G T 12: 55,909,946 (GRCm39) V239F possibly damaging Het
Ccdc158 A G 5: 92,798,647 (GRCm39) V351A probably benign Het
Ces1c A G 8: 93,854,232 (GRCm39) F101S possibly damaging Het
Cpb2 T C 14: 75,479,837 (GRCm39) Y15H probably benign Het
Dglucy A T 12: 100,833,414 (GRCm39) N535I possibly damaging Het
Dop1a C A 9: 86,405,072 (GRCm39) H1763Q probably damaging Het
Dpy19l1 C T 9: 24,385,120 (GRCm39) M236I probably benign Het
Efna2 T C 10: 80,022,710 (GRCm39) Y85H probably damaging Het
Eipr1 A T 12: 28,914,836 (GRCm39) probably null Het
Eln A T 5: 134,735,421 (GRCm39) Y787* probably null Het
Erbb2 G C 11: 98,315,990 (GRCm39) E364D probably benign Het
F5 A G 1: 164,007,077 (GRCm39) T294A probably damaging Het
Fam47e A G 5: 92,733,244 (GRCm39) T194A possibly damaging Het
Galk1 T C 11: 115,901,073 (GRCm39) D202G probably damaging Het
Glb1l2 T C 9: 26,682,362 (GRCm39) D163G probably damaging Het
Gmip A G 8: 70,268,170 (GRCm39) E408G probably benign Het
Gp1ba A T 11: 70,531,715 (GRCm39) probably benign Het
Grm3 A T 5: 9,554,881 (GRCm39) C804S probably damaging Het
Gzmd A G 14: 56,367,737 (GRCm39) C179R probably damaging Het
Hadhb T A 5: 30,385,935 (GRCm39) L415Q possibly damaging Het
Ift80 T C 3: 68,823,498 (GRCm39) Y588C probably damaging Het
Jazf1 T C 6: 53,045,516 (GRCm39) T13A probably benign Het
Kat8 T A 7: 127,514,467 (GRCm39) Y67* probably null Het
Kcnab1 G A 3: 65,283,933 (GRCm39) E384K possibly damaging Het
Lhx3 A T 2: 26,092,200 (GRCm39) Y230* probably null Het
Lmx1b T A 2: 33,454,674 (GRCm39) M365L probably damaging Het
Ly6k G T 15: 74,669,051 (GRCm39) P76Q probably benign Het
Lypd10 G A 7: 24,413,541 (GRCm39) G186R probably damaging Het
Map3k2 A G 18: 32,336,163 (GRCm39) I117V probably damaging Het
Med13 C A 11: 86,179,899 (GRCm39) A1350S possibly damaging Het
Midn T C 10: 79,987,495 (GRCm39) S109P probably damaging Het
Msh6 A G 17: 88,293,653 (GRCm39) T803A probably benign Het
Nckap1 T C 2: 80,337,182 (GRCm39) Y1018C probably damaging Het
Ndufc1 A T 3: 51,314,816 (GRCm39) N63K probably benign Het
Neb A T 2: 52,169,647 (GRCm39) S1811R probably damaging Het
Notch1 T C 2: 26,371,669 (GRCm39) D260G probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Oas1g T C 5: 121,017,205 (GRCm39) K283R probably benign Het
Obscn T C 11: 58,954,300 (GRCm39) T4037A Het
Or6b1 T G 6: 42,815,247 (GRCm39) L144R probably damaging Het
Or6b3 A G 1: 92,439,330 (GRCm39) L140P probably damaging Het
Otop2 A T 11: 115,217,781 (GRCm39) T206S probably benign Het
Pamr1 A G 2: 102,471,342 (GRCm39) probably null Het
Pkp1 G A 1: 135,805,411 (GRCm39) T675I probably benign Het
Plxna2 G A 1: 194,444,758 (GRCm39) V717I probably benign Het
Ptgs2 T C 1: 149,975,979 (GRCm39) L2P possibly damaging Het
Rarg A G 15: 102,147,980 (GRCm39) F277S probably damaging Het
Rassf5 A T 1: 131,140,076 (GRCm39) I161N probably damaging Het
Resf1 C T 6: 149,230,902 (GRCm39) T1316I probably benign Het
Rxfp4 A G 3: 88,559,659 (GRCm39) V264A probably benign Het
Secisbp2l T A 2: 125,582,597 (GRCm39) Q953L probably damaging Het
Serpinb9c T C 13: 33,334,218 (GRCm39) I275V probably benign Het
Slc2a12 T C 10: 22,541,141 (GRCm39) V332A probably damaging Het
Slc7a1 T C 5: 148,285,113 (GRCm39) S127G probably damaging Het
Slc7a4 A T 16: 17,393,568 (GRCm39) V77E probably damaging Het
Sp8 G A 12: 118,812,964 (GRCm39) S273N possibly damaging Het
Spag6l G T 16: 16,580,921 (GRCm39) N475K probably benign Het
St18 A G 1: 6,872,913 (GRCm39) H216R probably benign Het
Tcirg1 C T 19: 3,952,843 (GRCm39) probably benign Het
Tmeff1 A G 4: 48,658,788 (GRCm39) Y87C probably damaging Het
Tmem94 T C 11: 115,683,726 (GRCm39) V713A possibly damaging Het
Tnrc6b G T 15: 80,765,363 (GRCm39) R955L probably damaging Het
Trip12 A G 1: 84,727,012 (GRCm39) V1153A probably damaging Het
Tshz3 T C 7: 36,468,800 (GRCm39) L263S probably damaging Het
Tubb6 G A 18: 67,534,391 (GRCm39) probably null Het
Ube3a T C 7: 58,926,127 (GRCm39) W302R probably damaging Het
Vcpkmt A T 12: 69,629,519 (GRCm39) V81E probably damaging Het
Vmn1r175 T A 7: 23,508,466 (GRCm39) I54F possibly damaging Het
Vwa8 T A 14: 79,258,075 (GRCm39) N741K probably benign Het
Yeats2 A G 16: 20,033,176 (GRCm39) T1034A probably benign Het
Zc3h6 G A 2: 128,839,715 (GRCm39) R176Q probably damaging Het
Zfp207 T A 11: 80,286,253 (GRCm39) Y424* probably null Het
Zfp729a A G 13: 67,767,676 (GRCm39) V851A probably benign Het
Zkscan1 G T 5: 138,099,625 (GRCm39) A450S probably benign Het
Zkscan3 A G 13: 21,580,616 (GRCm39) V24A possibly 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
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
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'- TAGTAGTAACCACCCACGTCG -3'
(R):5'- TTCCTCCCAGAGAGATGTCC -3'

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