Mutagenetix > Incidental Mutation

Incidental Mutation 'R5885:Map1b'

456054

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

043237-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5885 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99421446-99516540 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99430081 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 2044 (I2044N)

Ref Sequence

ENSEMBL: ENSMUSP00000068374 (fasta)

Gene Model

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

AlphaFold

P14873

Predicted Effect

unknown
Transcript: ENSMUST00000064762
AA Change: I2044N

SMART Domains

Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: I2044N

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

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 91.8%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530099J19Rik	A	T	13: 19,729,349 (GRCm38)		noncoding transcript	Het
Acot10	T	A	15: 20,666,104 (GRCm38)	M184L	probably benign	Het
Adgrv1	A	T	13: 81,424,271 (GRCm38)	S4924T	probably benign	Het
Atp10a	T	A	7: 58,813,800 (GRCm38)	M1027K	possibly damaging	Het
Axl	T	A	7: 25,766,852 (GRCm38)	K510I	probably damaging	Het
Azi2	T	A	9: 118,047,560 (GRCm38)	I48N	probably damaging	Het
Cysltr2	T	C	14: 73,029,491 (GRCm38)	K260E	probably benign	Het
Dnah3	T	C	7: 120,069,704 (GRCm38)	I720V	probably benign	Het
Dnah8	C	T	17: 30,794,717 (GRCm38)	P3811S	probably damaging	Het
Epas1	A	G	17: 86,827,544 (GRCm38)	D535G	probably damaging	Het
Fam47e	A	G	5: 92,565,968 (GRCm38)	K152R	probably damaging	Het
Fbxl3	A	T	14: 103,083,231 (GRCm38)	I260K	probably benign	Het
Fcgr3	A	G	1: 171,057,711 (GRCm38)	V115A	probably damaging	Het
Fgf12	G	T	16: 28,398,294 (GRCm38)	D98E	possibly damaging	Het
Flt3	T	C	5: 147,349,629 (GRCm38)	T716A	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147 (GRCm38)		noncoding transcript	Het
Grin2a	A	G	16: 9,761,905 (GRCm38)	Y165H	possibly damaging	Het
Ifna4	T	A	4: 88,842,362 (GRCm38)	W168R	probably damaging	Het
Itga11	A	G	9: 62,762,850 (GRCm38)	Y752C	probably damaging	Het
Khdrbs3	A	G	15: 69,024,698 (GRCm38)		probably null	Het
Kif24	A	T	4: 41,423,463 (GRCm38)	Y263N	probably damaging	Het
Lama5	G	T	2: 180,201,831 (GRCm38)	T441K	probably damaging	Het
Lrrc47	T	A	4: 154,015,972 (GRCm38)	V335D	possibly damaging	Het
Mast2	C	T	4: 116,314,838 (GRCm38)	G638S	probably damaging	Het
Myo9a	T	C	9: 59,871,220 (GRCm38)	S1420P	probably benign	Het
Neurl2	T	C	2: 164,832,891 (GRCm38)	T184A	probably damaging	Het
Nfatc3	A	G	8: 106,096,312 (GRCm38)	I577V	probably benign	Het
Nipal3	A	T	4: 135,471,977 (GRCm38)	V186E	probably damaging	Het
Pgbd5	G	A	8: 124,384,466 (GRCm38)	T162M	probably damaging	Het
Plod2	T	A	9: 92,606,656 (GRCm38)		probably null	Het
Psg22	T	A	7: 18,718,332 (GRCm38)	L19Q	probably damaging	Het
Psg27	T	A	7: 18,561,786 (GRCm38)	N245Y	probably damaging	Het
Ptprc	T	A	1: 138,088,508 (GRCm38)	I539F	probably damaging	Het
Rad1	T	C	15: 10,488,057 (GRCm38)	L59P	probably damaging	Het
Slc2a9	G	A	5: 38,440,674 (GRCm38)	R137W	probably damaging	Het
Spats2l	C	T	1: 57,946,162 (GRCm38)	A458V	probably damaging	Het
Sptbn5	A	G	2: 120,076,663 (GRCm38)		probably benign	Het
Stox1	C	A	10: 62,664,848 (GRCm38)	L644F	probably damaging	Het
Sv2b	C	T	7: 75,156,753 (GRCm38)	G213E	probably damaging	Het
Tas2r121	T	G	6: 132,700,291 (GRCm38)	L239F	probably damaging	Het
Trrap	T	A	5: 144,794,793 (GRCm38)	V854E	probably damaging	Het
Vmn2r97	A	G	17: 18,947,773 (GRCm38)	Y763C	possibly damaging	Het
Xkr6	T	A	14: 63,606,911 (GRCm38)	W128R	probably damaging	Het

Other mutations in Map1b

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

Sequencing Primer
(F):5'- GTGGGCTCTTCACCAGCAAAC -3'
(R):5'- GCAATGGCTATGATGACACTG -3'

Posted On

2017-02-15