Mutagenetix > Incidental Mutation

Incidental Mutation 'R5090:Map1b'

387713

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

042679-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5090 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99557954-99653048 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 99566534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 2062 (Y2062*)

Ref Sequence

ENSEMBL: ENSMUSP00000068374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064762]

AlphaFold

P14873

Predicted Effect

probably null
Transcript: ENSMUST00000064762
AA Change: Y2062*

SMART Domains

Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: Y2062*

Domain	Start	End	E-Value	Type
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

0.9709

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

99% (66/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,984,422 (GRCm39)	S1168G	probably damaging	Het
Acsf2	A	T	11: 94,462,095 (GRCm39)		probably null	Het
Ankk1	G	T	9: 49,333,063 (GRCm39)	S140R	probably damaging	Het
Ash1l	G	T	3: 88,960,184 (GRCm39)	K2305N	probably damaging	Het
Asnsd1	C	T	1: 53,391,563 (GRCm39)		probably benign	Het
Atxn7l1	T	C	12: 33,376,077 (GRCm39)	S51P	probably damaging	Het
Ccdc88c	A	G	12: 100,920,439 (GRCm39)	L394P	probably damaging	Het
Cd200r1	T	A	16: 44,609,924 (GRCm39)	S48T	possibly damaging	Het
Cemip	T	C	7: 83,591,343 (GRCm39)	E1243G	probably damaging	Het
Cep192	T	A	18: 67,993,617 (GRCm39)	H1977Q	possibly damaging	Het
Cep250	T	C	2: 155,818,324 (GRCm39)	L833P	probably damaging	Het
Chd9	C	A	8: 91,753,462 (GRCm39)	Y1818*	probably null	Het
Clca3a1	C	A	3: 144,443,633 (GRCm39)	V706L	probably benign	Het
Cntln	T	C	4: 84,865,830 (GRCm39)	V162A	probably damaging	Het
Col5a1	G	A	2: 27,908,614 (GRCm39)	W67*	probably null	Het
Cux1	T	A	5: 136,342,054 (GRCm39)	N446I	possibly damaging	Het
Dlg1	G	T	16: 31,656,902 (GRCm39)	G599W	probably damaging	Het
Dock7	C	T	4: 98,879,648 (GRCm39)	V969I	probably benign	Het
Ephb3	T	C	16: 21,033,237 (GRCm39)	C74R	probably damaging	Het
Fads6	T	A	11: 115,187,480 (GRCm39)	T72S	probably benign	Het
Fra10ac1	C	T	19: 38,202,873 (GRCm39)	R110Q	probably damaging	Het
Gdf3	T	A	6: 122,586,713 (GRCm39)	L71F	probably benign	Het
Gm6685	A	G	11: 28,289,253 (GRCm39)	Y188H	probably benign	Het
Gm6981	A	C	9: 51,914,142 (GRCm39)		noncoding transcript	Het
Gnpda1	T	C	18: 38,465,146 (GRCm39)	T157A	probably damaging	Het
Grap2	A	C	15: 80,522,683 (GRCm39)	N70H	possibly damaging	Het
Gvin3	T	A	7: 106,200,109 (GRCm39)		noncoding transcript	Het
Hdac5	G	A	11: 102,088,539 (GRCm39)	R887C	probably damaging	Het
Hectd3	T	A	4: 116,857,435 (GRCm39)		probably benign	Het
Hmgcr	T	C	13: 96,787,098 (GRCm39)	K162E	probably benign	Het
Inpp5e	A	T	2: 26,289,383 (GRCm39)		probably null	Het
Kifap3	A	G	1: 163,683,645 (GRCm39)	D442G	possibly damaging	Het
Lama3	A	G	18: 12,675,459 (GRCm39)	T1015A	possibly damaging	Het
Lcp2	T	A	11: 34,039,725 (GRCm39)	Y508*	probably null	Het
Mipep	A	G	14: 61,039,748 (GRCm39)	D259G	possibly damaging	Het
Mmp2	T	C	8: 93,579,202 (GRCm39)	F97S	probably damaging	Het
Mrpl18	A	C	17: 13,132,697 (GRCm39)	M144R	probably damaging	Het
Nek9	A	G	12: 85,376,616 (GRCm39)		probably null	Het
Nmral1	A	T	16: 4,532,395 (GRCm39)	Y139N	probably damaging	Het
Notch4	T	C	17: 34,799,894 (GRCm39)	C952R	probably damaging	Het
Nsf	T	C	11: 103,801,404 (GRCm39)	N204D	probably benign	Het
P2rx4	A	T	5: 122,863,118 (GRCm39)	D197V	probably damaging	Het
Pak5	A	T	2: 135,929,338 (GRCm39)	I615N	probably damaging	Het
Parp10	T	C	15: 76,125,925 (GRCm39)	D421G	probably damaging	Het
Pcdha6	A	T	18: 37,101,770 (GRCm39)	D321V	probably benign	Het
Pkhd1	T	A	1: 20,270,981 (GRCm39)	I3191F	probably damaging	Het
Psmd4	T	C	3: 94,942,559 (GRCm39)	N7S	possibly damaging	Het
Ptprq	A	G	10: 107,361,950 (GRCm39)	V2084A	probably damaging	Het
Rab3gap1	A	G	1: 127,843,415 (GRCm39)	E263G	probably benign	Het
Rbm5	A	G	9: 107,637,511 (GRCm39)		probably benign	Het
Sacs	T	C	14: 61,442,702 (GRCm39)	F1583L	probably damaging	Het
Sel1l3	G	T	5: 53,357,388 (GRCm39)	H201Q	probably benign	Het
Shoc1	T	C	4: 59,111,108 (GRCm39)	T55A	unknown	Het
Tdpoz3	T	A	3: 93,733,870 (GRCm39)	W182R	possibly damaging	Het
Trim55	A	G	3: 19,725,771 (GRCm39)	N313S	probably benign	Het
Usp17lb	A	T	7: 104,490,290 (GRCm39)	D212E	probably benign	Het
Xirp2	A	G	2: 67,355,814 (GRCm39)	E3525G	possibly damaging	Het
Zfp236	T	C	18: 82,637,006 (GRCm39)	T1379A	probably benign	Het
Zfp553	A	T	7: 126,834,659 (GRCm39)	E71D	probably damaging	Het
Znrf1	T	G	8: 112,265,035 (GRCm39)	F21V	probably benign	Het

Other mutations in Map1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GGGGAACATCAGAGTCTGTC -3'
(R):5'- TTGGCGACTGTAGCTACTCC -3'

Sequencing Primer
(F):5'- ATGGGGCTGACTCACTGACTG -3'
(R):5'- GGCGACTGTAGCTACTCCTATGAAAC -3'

Posted On

2016-06-06