Incidental Mutation 'R7310:Map1b'
ID 567532
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 045409-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7310 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 99421446-99516540 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 99433655 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 853 (P853S)
Ref Sequence ENSEMBL: ENSMUSP00000068374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064762]
AlphaFold P14873
Predicted Effect unknown
Transcript: ENSMUST00000064762
AA Change: P853S
SMART Domains Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: P853S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik A T 11: 58,880,268 (GRCm38) Q192L possibly damaging Het
3110002H16Rik A G 18: 12,184,915 (GRCm38) K362E probably benign Het
Abat G A 16: 8,605,593 (GRCm38) R250Q probably null Het
Abcg3 A C 5: 104,966,766 (GRCm38) F295C probably benign Het
Abl1 T C 2: 31,800,592 (GRCm38) S708P possibly damaging Het
Acap2 A T 16: 31,108,154 (GRCm38) Y489* probably null Het
Akr1c6 A T 13: 4,436,355 (GRCm38) M54L probably benign Het
Arhgap5 A T 12: 52,542,487 (GRCm38) probably null Het
Asap1 A G 15: 64,099,530 (GRCm38) probably null Het
Atrnl1 A T 19: 57,642,424 (GRCm38) N208Y possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,888,136 (GRCm38) probably benign Het
BC028528 ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC 3: 95,888,139 (GRCm38) probably benign Het
BC028528 G GGGGTCACTGGTTCTT 3: 95,888,148 (GRCm38) probably benign Het
BC028528 GTTCTGTGGTCACTG GTTCTGTGGTCACTGATTCTGTGGTCACTG 3: 95,888,173 (GRCm38) probably benign Het
BC049762 A C 11: 51,254,647 (GRCm38) W38G probably damaging Het
Bmi1 T C 2: 18,684,419 (GRCm38) S305P probably benign Het
Bpifc T A 10: 85,963,027 (GRCm38) I431F probably damaging Het
C130050O18Rik A T 5: 139,415,238 (GRCm38) M349L probably benign Het
Cacna2d1 A T 5: 16,314,916 (GRCm38) D428V probably damaging Het
Card14 A C 11: 119,326,179 (GRCm38) Q363P probably null Het
Cdca2 A T 14: 67,713,224 (GRCm38) L86H probably damaging Het
Cdh22 G T 2: 165,112,294 (GRCm38) S769* probably null Het
Cep164 T C 9: 45,775,366 (GRCm38) E690G probably damaging Het
Cluh A G 11: 74,669,459 (GRCm38) H1304R probably benign Het
Daxx C A 17: 33,910,461 (GRCm38) D5E possibly damaging Het
Dnah7c A G 1: 46,596,967 (GRCm38) M1117V possibly damaging Het
Dusp27 G A 1: 166,098,731 (GRCm38) T1104I possibly damaging Het
Entpd3 T A 9: 120,560,755 (GRCm38) probably null Het
Esr1 G A 10: 4,939,259 (GRCm38) A386T probably damaging Het
Etv5 G A 16: 22,401,737 (GRCm38) P300L probably benign Het
Exoc3l A T 8: 105,293,708 (GRCm38) L195Q probably damaging Het
Exog T C 9: 119,445,003 (GRCm38) L18P unknown Het
Fgfr1 T A 8: 25,562,315 (GRCm38) V219D probably benign Het
Gm28710 A G 5: 16,870,248 (GRCm38) Y872C possibly damaging Het
Gna14 A T 19: 16,533,749 (GRCm38) Q54L Het
Gnb5 T C 9: 75,314,288 (GRCm38) L48P probably benign Het
Gpbp1 A G 13: 111,453,390 (GRCm38) I57T probably benign Het
Hnrnpa1 T A 15: 103,241,457 (GRCm38) D48E probably damaging Het
Hrc T A 7: 45,335,803 (GRCm38) L126* probably null Het
Hspa8 T G 9: 40,803,408 (GRCm38) D333E probably benign Het
Igsf3 T A 3: 101,431,579 (GRCm38) V403D probably benign Het
Itga10 C A 3: 96,648,159 (GRCm38) A143D probably damaging Het
Kdr T A 5: 75,944,325 (GRCm38) I1082F probably damaging Het
Klk11 A T 7: 43,778,830 (GRCm38) I242F probably damaging Het
Kng2 G A 16: 22,987,772 (GRCm38) T559I probably benign Het
Mmp13 T C 9: 7,280,880 (GRCm38) I421T possibly damaging Het
Mpeg1 A T 19: 12,462,251 (GRCm38) T358S probably damaging Het
Mttp T C 3: 138,095,022 (GRCm38) D759G probably damaging Het
Mup17 T A 4: 61,593,692 (GRCm38) Y115F possibly damaging Het
Myo1a G T 10: 127,705,828 (GRCm38) A79S probably damaging Het
Myo9a T A 9: 59,871,153 (GRCm38) N1397K probably benign Het
Nadk2 T C 15: 9,103,381 (GRCm38) probably null Het
Ncf1 A T 5: 134,221,761 (GRCm38) S402T probably benign Het
Ndufb10 T C 17: 24,722,214 (GRCm38) D145G probably damaging Het
Nlgn2 G A 11: 69,830,583 (GRCm38) T163M possibly damaging Het
Nol4 A T 18: 22,770,744 (GRCm38) H172Q Het
Nup205 T A 6: 35,225,969 (GRCm38) D1370E possibly damaging Het
Olfr1447 A G 19: 12,901,273 (GRCm38) F169S probably damaging Het
Olfr392 A C 11: 73,814,286 (GRCm38) N265K probably damaging Het
Olfr613 T A 7: 103,552,685 (GRCm38) I300N probably damaging Het
Pkd1l2 A G 8: 117,024,034 (GRCm38) V1746A probably benign Het
Plin2 T A 4: 86,668,391 (GRCm38) I68F probably benign Het
Proc A T 18: 32,135,899 (GRCm38) M11K probably benign Het
Rif1 T C 2: 52,105,619 (GRCm38) V950A probably benign Het
Rnf208 C A 2: 25,243,575 (GRCm38) P94T probably damaging Het
Rundc3b A T 5: 8,521,011 (GRCm38) Y269* probably null Het
Senp7 T C 16: 56,186,082 (GRCm38) V950A probably benign Het
Sipa1l1 T C 12: 82,372,495 (GRCm38) V649A probably damaging Het
Sipa1l3 G T 7: 29,399,696 (GRCm38) H383N probably benign Het
Slc12a5 G A 2: 164,992,440 (GRCm38) V794M probably damaging Het
Slc7a7 A G 14: 54,379,025 (GRCm38) I200T probably damaging Het
Spdye4b A C 5: 143,202,348 (GRCm38) I199L probably damaging Het
Tle4 A T 19: 14,517,791 (GRCm38) H191Q probably benign Het
Tnfsf13b C A 8: 10,031,651 (GRCm38) S271* probably null Het
Tnks2 G A 19: 36,879,439 (GRCm38) V855I probably benign Het
Trank1 T C 9: 111,367,126 (GRCm38) L1406S probably damaging Het
Trhde T C 10: 114,800,573 (GRCm38) E243G probably damaging Het
Trim25 A T 11: 89,015,782 (GRCm38) N448I probably benign Het
Trim31 T A 17: 36,907,302 (GRCm38) M308K probably benign Het
Ugt2b36 A T 5: 87,066,279 (GRCm38) V502E possibly damaging Het
Usp10 A C 8: 119,941,605 (GRCm38) D215A possibly damaging Het
Usp33 T G 3: 152,360,389 (GRCm38) L102* probably null Het
Wdr12 A T 1: 60,082,575 (GRCm38) C272* probably null Het
Xndc1 A C 7: 102,078,731 (GRCm38) probably null Het
Zkscan2 T C 7: 123,490,053 (GRCm38) I332V possibly damaging Het
Zswim5 A T 4: 116,984,688 (GRCm38) T822S probably benign 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
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
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'- TCAATGTCATCCACGCCCTG -3'
(R):5'- CTGCTGGGAAACTCAAGGAC -3'

Sequencing Primer
(F):5'- ACGCCCTGCTTCTCAACTGG -3'
(R):5'- TGCCACAGCTGTTGGCAC -3'
Posted On 2019-06-26