Incidental Mutation 'R4704:Map1b'
ID 356316
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 041952-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4704 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 99557954-99653048 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99566983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 1913 (C1913S)
Ref Sequence ENSEMBL: ENSMUSP00000068374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064762]
AlphaFold P14873
Predicted Effect unknown
Transcript: ENSMUST00000064762
AA Change: C1913S
SMART Domains Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: C1913S

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 0.0869 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (89/92)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,959,259 (GRCm39) M147K probably damaging Het
Abca13 A G 11: 9,226,990 (GRCm39) D582G possibly damaging Het
Abca2 T C 2: 25,333,424 (GRCm39) L1683P probably damaging Het
Adam39 A G 8: 41,278,833 (GRCm39) H408R probably benign Het
Adcy4 A G 14: 56,012,482 (GRCm39) S554P possibly damaging Het
Ahnak T C 19: 8,990,545 (GRCm39) I3943T probably damaging Het
Ahnak T G 19: 8,989,622 (GRCm39) probably benign Het
Alkal2 T A 12: 30,937,195 (GRCm39) S109R probably damaging Het
Apobec4 A G 1: 152,632,001 (GRCm39) T10A probably benign Het
Arhgef40 A G 14: 52,239,767 (GRCm39) N1327S probably damaging Het
Arpc3 A G 5: 122,538,471 (GRCm39) M1V probably null Het
Ascc1 A G 10: 59,885,624 (GRCm39) Y225C probably damaging Het
Ascc3 A G 10: 50,535,110 (GRCm39) I668V probably benign Het
Bdnf T A 2: 109,554,037 (GRCm39) M137K possibly damaging Het
Cacna1b T C 2: 24,544,475 (GRCm39) D1231G probably damaging Het
Cds2 T A 2: 132,142,522 (GRCm39) Y239* probably null Het
Cpped1 G A 16: 11,703,493 (GRCm39) probably benign Het
Ctu2 G A 8: 123,206,042 (GRCm39) R261Q probably damaging Het
Cux1 A G 5: 136,278,055 (GRCm39) V645A probably benign Het
Cyp4f13 A G 17: 33,144,709 (GRCm39) C401R probably damaging Het
Dpt T G 1: 164,646,518 (GRCm39) Y162* probably null Het
Ednra A G 8: 78,394,592 (GRCm39) probably benign Het
Eepd1 A G 9: 25,394,122 (GRCm39) T129A probably benign Het
Eif2s1 A G 12: 78,923,944 (GRCm39) T134A probably benign Het
Eloa A G 4: 135,738,525 (GRCm39) V145A probably benign Het
Enam T A 5: 88,651,650 (GRCm39) L1053* probably null Het
Eng T C 2: 32,568,924 (GRCm39) S484P probably benign Het
Eogt A T 6: 97,090,813 (GRCm39) V442E probably damaging Het
Fam185a C T 5: 21,685,471 (GRCm39) probably benign Het
Gm4922 C T 10: 18,660,567 (GRCm39) V52I probably benign Het
Gnao1 A G 8: 94,538,004 (GRCm39) E14G probably benign Het
Gpr75 C A 11: 30,841,110 (GRCm39) A5D probably benign Het
Hbq1b T A 11: 32,237,448 (GRCm39) probably benign Het
Hdac7 G A 15: 97,694,097 (GRCm39) T724M probably damaging Het
Ifi204 C A 1: 173,587,927 (GRCm39) probably benign Het
Ift88 A G 14: 57,718,307 (GRCm39) probably benign Het
Irak4 A G 15: 94,464,781 (GRCm39) probably null Het
Kalrn T C 16: 34,024,327 (GRCm39) D610G probably damaging Het
Kifc2 T C 15: 76,547,177 (GRCm39) probably null Het
Kmt2c G A 5: 25,519,025 (GRCm39) Q2362* probably null Het
Kntc1 G A 5: 123,949,496 (GRCm39) E1956K probably damaging Het
Lama3 T C 18: 12,686,280 (GRCm39) V2781A probably benign Het
Lipt2 A G 7: 99,809,534 (GRCm39) E207G probably damaging Het
Mag A T 7: 30,608,598 (GRCm39) L172Q probably damaging Het
Mical3 A G 6: 120,935,649 (GRCm39) S1626P probably benign Het
Mslnl G T 17: 25,957,952 (GRCm39) W65L possibly damaging Het
Muc20 G T 16: 32,599,448 (GRCm39) A3332S possibly damaging Het
Nadk C A 4: 155,669,684 (GRCm39) P157T probably benign Het
Nkx2-3 G A 19: 43,601,123 (GRCm39) E62K probably damaging Het
Or6c2 T C 10: 129,362,171 (GRCm39) L25P possibly damaging Het
Pclo A G 5: 14,726,494 (GRCm39) probably benign Het
Pcna-ps2 T A 19: 9,260,786 (GRCm39) V15E possibly damaging Het
Plekhg3 G T 12: 76,625,012 (GRCm39) G1285W probably damaging Het
Pramel29 A T 4: 143,935,162 (GRCm39) I193N probably damaging Het
Procr A G 2: 155,596,258 (GRCm39) S142G probably damaging Het
Ptpn3 A T 4: 57,270,119 (GRCm39) N14K possibly damaging Het
Rin1 C A 19: 5,105,018 (GRCm39) L693I probably damaging Het
Ripk4 C A 16: 97,547,204 (GRCm39) E290* probably null Het
Rnf213 A G 11: 119,331,175 (GRCm39) Y2128C probably damaging Het
Saal1 T C 7: 46,349,164 (GRCm39) probably benign Het
Selplg T C 5: 113,957,094 (GRCm39) D404G probably benign Het
Serpinf1 C A 11: 75,301,867 (GRCm39) A263S probably damaging Het
Sgo2b A T 8: 64,380,824 (GRCm39) D669E probably damaging Het
Slc30a9 T C 5: 67,499,616 (GRCm39) probably benign Het
Sri A T 5: 8,112,430 (GRCm39) probably null Het
Sspo G A 6: 48,475,638 (GRCm39) C4918Y probably damaging Het
Szt2 A G 4: 118,251,026 (GRCm39) Y361H probably damaging Het
Tbc1d12 T A 19: 38,889,781 (GRCm39) W404R probably damaging Het
Tcf20 T C 15: 82,735,928 (GRCm39) E1841G possibly damaging Het
Tep1 T C 14: 51,074,530 (GRCm39) T1832A probably benign Het
Tmem132e G A 11: 82,334,357 (GRCm39) A623T probably damaging Het
Tmem201 A T 4: 149,811,774 (GRCm39) F357Y possibly damaging Het
Trappc13 T G 13: 104,303,329 (GRCm39) probably benign Het
Trav6-5 C T 14: 53,728,883 (GRCm39) Q47* probably null Het
Ubxn1 T A 19: 8,849,399 (GRCm39) D47E probably benign Het
Vmn2r45 G T 7: 8,486,535 (GRCm39) S251* probably null Het
Wnk1 A G 6: 119,942,705 (GRCm39) L774S possibly damaging Het
Zfp189 T C 4: 49,530,081 (GRCm39) S395P 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
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'- GGTGTAGCCGCTTACTTCAG -3'
(R):5'- CAATGCAACATCATCTGGCC -3'

Sequencing Primer
(F):5'- TAGCCGCTTACTTCAGGGGTC -3'
(R):5'- GCAACATCATCTGGCCTTGAATAGAG -3'
Posted On 2015-10-21