Incidental Mutation 'R2116:Map1b'
ID 233192
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 040120-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2116 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 99557954-99653048 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 99567152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1856 (S1856R)
Ref Sequence ENSEMBL: ENSMUSP00000068374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064762]
AlphaFold P14873
Predicted Effect unknown
Transcript: ENSMUST00000064762
AA Change: S1856R
SMART Domains Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: S1856R

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.9%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A G 15: 94,253,243 (GRCm39) C377R probably damaging Het
Adgrv1 T C 13: 81,677,132 (GRCm39) K1180E probably benign Het
Ankle1 A G 8: 71,860,562 (GRCm39) T340A probably benign Het
Armc2 A T 10: 41,839,663 (GRCm39) L434Q probably damaging Het
Ash1l C T 3: 88,890,571 (GRCm39) L817F probably benign Het
Atm C T 9: 53,412,269 (GRCm39) E960K probably benign Het
Bend5 G T 4: 111,272,436 (GRCm39) R22L probably benign Het
Cacng6 C T 7: 3,479,020 (GRCm39) T133I probably damaging Het
Cep120 G A 18: 53,873,208 (GRCm39) T41I probably damaging Het
Ciz1 T C 2: 32,257,477 (GRCm39) L174P probably damaging Het
Cmah G A 13: 24,612,880 (GRCm39) D26N probably benign Het
Cnot1 A C 8: 96,452,781 (GRCm39) D2098E probably damaging Het
Cnot10 A C 9: 114,455,504 (GRCm39) S207R probably damaging Het
Col14a1 A G 15: 55,271,160 (GRCm39) T638A unknown Het
Coro1a T C 7: 126,301,194 (GRCm39) E102G probably damaging Het
Ddx27 A C 2: 166,869,684 (GRCm39) D373A probably benign Het
Defb38 A T 8: 19,073,483 (GRCm39) Y63* probably null Het
Dhx37 A G 5: 125,498,166 (GRCm39) V681A probably damaging Het
Dmxl1 T A 18: 50,011,884 (GRCm39) L1347H probably damaging Het
Dnmt3l C A 10: 77,899,130 (GRCm39) L110I probably damaging Het
Gcn1 A T 5: 115,736,884 (GRCm39) M1276L probably benign Het
Gfus A G 15: 75,797,991 (GRCm39) F223S probably damaging Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gm12790 G A 4: 101,824,848 (GRCm39) T140I possibly damaging Het
Golga3 A T 5: 110,335,261 (GRCm39) M192L probably damaging Het
H2-T22 A T 17: 36,349,949 (GRCm39) probably null Het
Hectd2 C A 19: 36,591,824 (GRCm39) T675K probably damaging Het
Hinfp T C 9: 44,210,912 (GRCm39) N116S probably damaging Het
Hoatz A G 9: 51,012,384 (GRCm39) S79P possibly damaging Het
Hs6st3 T A 14: 120,106,699 (GRCm39) L369Q probably damaging Het
Ift74 A G 4: 94,515,496 (GRCm39) T138A probably benign Het
Ipo7 T A 7: 109,650,325 (GRCm39) Y792N probably damaging Het
Jak1 A T 4: 101,036,872 (GRCm39) I256N probably damaging Het
Kcnd2 T A 6: 21,216,431 (GRCm39) L45Q probably damaging Het
Klhl3 A T 13: 58,166,805 (GRCm39) V342E probably damaging Het
Krt28 A C 11: 99,255,943 (GRCm39) S439A probably benign Het
L3mbtl1 T A 2: 162,801,990 (GRCm39) probably null Het
Lrch1 G A 14: 75,022,971 (GRCm39) P634L probably damaging Het
Lrp1 C T 10: 127,412,362 (GRCm39) W1314* probably null Het
Lrwd1 T A 5: 136,159,332 (GRCm39) Y431F probably damaging Het
Lyst A G 13: 13,810,286 (GRCm39) E652G probably damaging Het
Mageb3 A G 2: 121,785,033 (GRCm39) V223A probably damaging Het
Mecom T A 3: 30,019,607 (GRCm39) Q759L probably damaging Het
Mfsd6 T A 1: 52,700,134 (GRCm39) R671S probably benign Het
Mllt10 A G 2: 18,167,380 (GRCm39) N435S probably benign Het
Mta2 T C 19: 8,920,880 (GRCm39) I27T probably damaging Het
Ndufab1 A G 7: 121,700,987 (GRCm39) L20P probably benign Het
Nfatc2ip T A 7: 125,984,280 (GRCm39) Y371F probably damaging Het
Nhlrc1 A C 13: 47,167,661 (GRCm39) S199A probably benign Het
Nipa1 G T 7: 55,635,273 (GRCm39) N113K possibly damaging Het
Nlgn1 T A 3: 26,187,414 (GRCm39) N157I probably damaging Het
Nlrp1a T A 11: 71,005,326 (GRCm39) K630* probably null Het
Nmi T C 2: 51,838,719 (GRCm39) T272A probably benign Het
Nr1i3 T A 1: 171,046,163 (GRCm39) L181Q probably damaging Het
Nrxn1 A T 17: 91,011,705 (GRCm39) I308K probably damaging Het
Nup50l A T 6: 96,141,841 (GRCm39) V401E probably damaging Het
Or14a256 T C 7: 86,265,286 (GRCm39) D189G probably benign Het
Or52z15 T C 7: 103,332,519 (GRCm39) I188T probably damaging Het
Or5al7 A T 2: 85,993,073 (GRCm39) Y73* probably null Het
Or8g50 T A 9: 39,648,600 (GRCm39) M163K probably damaging Het
Osgin2 G A 4: 16,008,648 (GRCm39) T51M probably damaging Het
Pkd1l2 T A 8: 117,757,461 (GRCm39) T1526S possibly damaging Het
Pkhd1l1 G T 15: 44,432,878 (GRCm39) A3378S probably damaging Het
Plg A T 17: 12,603,364 (GRCm39) D90V probably damaging Het
Plppr3 A T 10: 79,701,572 (GRCm39) D423E probably benign Het
Prpf8 T C 11: 75,378,547 (GRCm39) V66A possibly damaging Het
Psg19 A T 7: 18,528,180 (GRCm39) Y188N probably damaging Het
Ptgs1 C A 2: 36,127,708 (GRCm39) S89* probably null Het
Ptx3 T A 3: 66,132,187 (GRCm39) I236N probably damaging Het
Pygm A G 19: 6,436,438 (GRCm39) N100S probably damaging Het
Reps1 A G 10: 18,000,668 (GRCm39) E760G probably damaging Het
Rgs7 T A 1: 174,918,639 (GRCm39) N235I probably damaging Het
Rgsl1 T A 1: 153,693,295 (GRCm39) M629L probably benign Het
Rrh T C 3: 129,604,336 (GRCm39) I288M probably damaging Het
Sctr A T 1: 119,959,312 (GRCm39) D70V probably damaging Het
Sec11c A T 18: 65,933,720 (GRCm39) T9S probably benign Het
Spty2d1 C T 7: 46,645,933 (GRCm39) G570D probably damaging Het
Stx1b T C 7: 127,410,077 (GRCm39) E153G probably damaging Het
Synm G A 7: 67,383,343 (GRCm39) R1440W probably benign Het
Tcof1 T C 18: 60,965,857 (GRCm39) E415G possibly damaging Het
Tgfb1i1 G A 7: 127,851,977 (GRCm39) R353H probably damaging Het
Thbs3 T C 3: 89,126,699 (GRCm39) F271S probably damaging Het
Tlr5 T C 1: 182,803,194 (GRCm39) W833R probably damaging Het
Tmem132b A G 5: 125,699,615 (GRCm39) E92G probably damaging Het
Tmem221 T C 8: 72,010,472 (GRCm39) Y133C probably damaging Het
Tmem229b-ps A G 10: 53,351,552 (GRCm39) noncoding transcript Het
Tnxb T C 17: 34,891,201 (GRCm39) C515R probably damaging Het
Trp53rka T A 2: 165,333,415 (GRCm39) N158I probably damaging Het
Usp20 T A 2: 30,906,317 (GRCm39) C562S probably damaging Het
Usp31 C T 7: 121,247,919 (GRCm39) V1175M probably benign Het
Veph1 G T 3: 65,964,610 (GRCm39) N806K probably benign Het
Vmn1r223 G T 13: 23,433,832 (GRCm39) C142F probably damaging Het
Vmn2r80 A T 10: 79,030,558 (GRCm39) S795C probably benign Het
Wdr41 A G 13: 95,151,537 (GRCm39) probably null Het
Zfp617 A T 8: 72,686,009 (GRCm39) H113L probably benign Het
Zfp715 T A 7: 42,947,370 (GRCm39) R863S 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
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
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'- TCGGTAATTTCACAGGTGTAGC -3'
(R):5'- TCTGCAGCTAAAGAGACTGC -3'

Sequencing Primer
(F):5'- ATGGTCTCATAGGAGTACCCACTG -3'
(R):5'- GCTAAAGAGACTGCAGCAGCTC -3'
Posted On 2014-09-18