Incidental Mutation 'R9339:Map1b'
ID 707397
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9339 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 99421446-99516540 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99431062 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1717 (I1717N)
Ref Sequence ENSEMBL: ENSMUSP00000068374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064762]
AlphaFold P14873
Predicted Effect unknown
Transcript: ENSMUST00000064762
AA Change: I1717N
SMART Domains Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: I1717N

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (77/78)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,849,657 (GRCm38) E304G unknown Het
4933425L06Rik C T 13: 105,109,606 (GRCm38) T225I probably benign Het
4933436I01Rik T A X: 67,921,083 (GRCm38) K57* probably null Het
Aar2 T C 2: 156,550,973 (GRCm38) V94A probably benign Het
Abcb9 T C 5: 124,090,113 (GRCm38) T22A possibly damaging Het
Adam25 T C 8: 40,753,874 (GRCm38) V59A probably damaging Het
Ampd2 T C 3: 108,080,300 (GRCm38) D103G probably damaging Het
Ankrd12 A G 17: 65,984,413 (GRCm38) S1342P probably benign Het
Atp13a2 A G 4: 141,003,260 (GRCm38) T739A probably benign Het
Catsperg1 T A 7: 29,195,460 (GRCm38) N571Y probably benign Het
Cela3b A G 4: 137,425,044 (GRCm38) I74T probably damaging Het
Cfhr1 A G 1: 139,557,555 (GRCm38) L51P probably benign Het
Ckap5 T A 2: 91,565,755 (GRCm38) D534E probably benign Het
Cstf3 C T 2: 104,663,433 (GRCm38) P594L probably damaging Het
Ctdp1 A G 18: 80,449,474 (GRCm38) L602P probably damaging Het
Defa24 A G 8: 21,734,543 (GRCm38) T3A probably damaging Het
Dmgdh A G 13: 93,711,433 (GRCm38) H546R probably benign Het
Dscam A G 16: 96,716,063 (GRCm38) V882A possibly damaging Het
Dydc2 A G 14: 41,049,303 (GRCm38) *140Q probably null Het
Ehd4 T C 2: 120,091,227 (GRCm38) D516G possibly damaging Het
En1 T C 1: 120,607,164 (GRCm38) V394A unknown Het
Erich3 T G 3: 154,763,235 (GRCm38) L1108R unknown Het
Erp27 A G 6: 136,919,947 (GRCm38) S86P probably benign Het
Esr1 A C 10: 4,746,798 (GRCm38) S216R probably damaging Het
Fbxo40 A T 16: 36,968,924 (GRCm38) I608N probably damaging Het
Fcna G A 2: 25,627,770 (GRCm38) Q23* probably null Het
Foxn4 C T 5: 114,256,894 (GRCm38) R324Q probably benign Het
Gata6 A G 18: 11,054,520 (GRCm38) T150A probably damaging Het
Gbp2b T A 3: 142,611,417 (GRCm38) H511Q probably benign Het
Gm4788 T A 1: 139,754,306 (GRCm38) Y184F probably benign Het
Gpr171 C A 3: 59,097,941 (GRCm38) V138L probably damaging Het
Grhl2 G A 15: 37,344,660 (GRCm38) V509I probably benign Het
Gzmd G A 14: 56,130,412 (GRCm38) P135S probably damaging Het
Hhatl C A 9: 121,789,796 (GRCm38) C90F probably benign Het
Hspg2 A G 4: 137,551,169 (GRCm38) K3050R probably benign Het
Kcnh3 T C 15: 99,232,905 (GRCm38) Y468H probably damaging Het
Lhfp A G 3: 53,043,470 (GRCm38) H55R probably benign Het
Lpgat1 T C 1: 191,719,376 (GRCm38) V38A probably benign Het
Lrrc49 A G 9: 60,602,748 (GRCm38) I479T probably benign Het
Map3k20 G T 2: 72,441,872 (GRCm38) R781S possibly damaging Het
Mcm3ap A G 10: 76,470,524 (GRCm38) E157G probably benign Het
Mylk2 A G 2: 152,913,450 (GRCm38) E178G probably damaging Het
Naaladl2 A G 3: 24,002,982 (GRCm38) L605P probably damaging Het
Nox4 G A 7: 87,376,240 (GRCm38) R525Q probably benign Het
Olfr1249 T C 2: 89,630,211 (GRCm38) E229G probably damaging Het
Olfr63 T C 17: 33,269,657 (GRCm38) V311A probably benign Het
Padi3 A T 4: 140,795,617 (GRCm38) I348N probably benign Het
Pcdh18 T C 3: 49,754,886 (GRCm38) D660G probably damaging Het
Pdgfra T A 5: 75,194,974 (GRCm38) S1048R probably damaging Het
Pkhd1l1 T C 15: 44,589,553 (GRCm38) V3958A probably damaging Het
Ppargc1b C A 18: 61,323,196 (GRCm38) C80F probably damaging Het
Rbm28 T C 6: 29,128,675 (GRCm38) E590G probably benign Het
Rbm47 T C 5: 66,026,483 (GRCm38) E259G possibly damaging Het
Rint1 A G 5: 23,788,357 (GRCm38) *37W probably null Het
Sacs G A 14: 61,205,860 (GRCm38) R1785Q probably benign Het
Samm50 T C 15: 84,211,075 (GRCm38) C421R probably benign Het
Scnn1b G T 7: 121,912,031 (GRCm38) A314S probably damaging Het
Sf3b3 C A 8: 110,816,222 (GRCm38) V868L probably benign Het
Sirt5 G T 13: 43,376,851 (GRCm38) V136L probably benign Het
Slc1a7 T C 4: 107,993,040 (GRCm38) V116A probably damaging Het
Slc24a4 G A 12: 102,264,379 (GRCm38) V510M probably damaging Het
Slc35f5 T C 1: 125,589,891 (GRCm38) I116T probably benign Het
Spata4 T C 8: 54,600,864 (GRCm38) S22P probably benign Het
Sqstm1 A G 11: 50,200,898 (GRCm38) V324A probably benign Het
Stmnd1 G A 13: 46,299,603 (GRCm38) A252T probably benign Het
Tbl1xr1 C A 3: 22,203,986 (GRCm38) N470K possibly damaging Het
Thap12 T C 7: 98,715,116 (GRCm38) S164P possibly damaging Het
Thsd1 A G 8: 22,243,882 (GRCm38) Y315C probably damaging Het
Tnni2 C A 7: 142,443,935 (GRCm38) D102E probably damaging Het
Trav7n-4 A C 14: 53,091,392 (GRCm38) N16T probably benign Het
Trpm7 T C 2: 126,823,986 (GRCm38) K900R probably benign Het
Tspoap1 T A 11: 87,778,013 (GRCm38) C1371S probably benign Het
Tssk5 A G 15: 76,372,956 (GRCm38) M242T possibly damaging Het
Ubn2 A G 6: 38,483,144 (GRCm38) I607V probably benign Het
Ubr2 A T 17: 46,973,939 (GRCm38) V551E probably benign Het
Vipr2 A G 12: 116,094,724 (GRCm38) N87S probably damaging Het
Vmn2r18 T A 5: 151,561,667 (GRCm38) K787N probably damaging Het
Wwc2 A T 8: 47,900,824 (GRCm38) W92R probably damaging Het
Zfp141 A G 7: 42,476,215 (GRCm38) Y278H probably damaging Het
Zfp827 T C 8: 79,118,258 (GRCm38) S686P 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
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
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'- AAAGGTGAGGACTCTCGTGG -3'
(R):5'- TTAGTCGGCAGTCTCCAGATC -3'

Sequencing Primer
(F):5'- ATCAGATTTCGGAGAGAGCTTC -3'
(R):5'- AGTCTCCAGATCACCCTACTCTGG -3'
Posted On 2022-04-18