Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02970:Map1b'

365782

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map1b

Ensembl Gene

ENSMUSG00000052727

Gene Name

microtubule-associated protein 1B

Synonyms

Mtap1b, Mtap-5, MAP5, Mtap5, LC1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02970

Quality Score

Status

Chromosome

Chromosomal Location

99557954-99653048 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 99567242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1826 (Y1826*)

Ref Sequence

ENSEMBL: ENSMUSP00000068374 (fasta)

Gene Model

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

AlphaFold

P14873

Predicted Effect

probably null
Transcript: ENSMUST00000064762
AA Change: Y1826*

SMART Domains

Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: Y1826*

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	C	T	1: 53,226,748 (GRCm39)	G5S	probably damaging	Het
A2ml1	A	T	6: 128,546,942 (GRCm39)	F396I	probably damaging	Het
BC051019	T	A	7: 109,315,262 (GRCm39)	N331I	probably benign	Het
Crocc	G	A	4: 140,757,557 (GRCm39)	S912L	possibly damaging	Het
Dcaf4	A	G	12: 83,575,989 (GRCm39)	D46G	probably damaging	Het
Dido1	C	T	2: 180,331,208 (GRCm39)	R80Q	probably damaging	Het
Dnase2b	A	G	3: 146,288,261 (GRCm39)	V278A	probably damaging	Het
Drosha	C	T	15: 12,914,042 (GRCm39)	L1106F	probably damaging	Het
Dsc3	C	A	18: 20,101,317 (GRCm39)	W692L	probably damaging	Het
F2	T	A	2: 91,455,896 (GRCm39)	Y579F	possibly damaging	Het
Fam43a	C	T	16: 30,419,922 (GRCm39)	R169C	probably damaging	Het
Gm9772	A	G	17: 22,225,540 (GRCm39)	F120S	probably damaging	Het
Gsdma3	T	C	11: 98,523,819 (GRCm39)	S251P	probably benign	Het
Hycc2	T	C	1: 58,578,776 (GRCm39)	E258G	probably damaging	Het
Itgam	G	A	7: 127,685,215 (GRCm39)	E443K	probably benign	Het
Kif18a	T	C	2: 109,118,233 (GRCm39)	V16A	probably damaging	Het
Lrrn3	T	G	12: 41,502,359 (GRCm39)	S653R	probably benign	Het
Mbnl1	T	C	3: 60,520,844 (GRCm39)	F139S	probably damaging	Het
Micu3	T	C	8: 40,835,171 (GRCm39)	Y509H	possibly damaging	Het
Ncmap	T	C	4: 135,104,329 (GRCm39)	T17A	probably damaging	Het
Oas1h	T	A	5: 120,999,698 (GRCm39)	M61K	possibly damaging	Het
Otog	T	A	7: 45,945,291 (GRCm39)	W2183R	probably benign	Het
Pcdh15	T	C	10: 74,126,794 (GRCm39)		probably benign	Het
Plekho1	C	T	3: 95,898,214 (GRCm39)	V150I	probably damaging	Het
Ppargc1b	A	G	18: 61,431,837 (GRCm39)	S1004P	probably damaging	Het
Prf1	T	C	10: 61,135,957 (GRCm39)	S78P	probably benign	Het
Prss12	A	G	3: 123,276,411 (GRCm39)	S347G	probably benign	Het
Rai1	T	C	11: 60,076,559 (GRCm39)	S208P	probably damaging	Het
Sgms1	A	G	19: 32,137,165 (GRCm39)	Y134H	probably damaging	Het
Sult2a4	A	G	7: 13,643,831 (GRCm39)		probably benign	Het
T	C	T	17: 8,654,217 (GRCm39)	A134V	probably damaging	Het
Thoc5	A	G	11: 4,854,201 (GRCm39)	T187A	probably damaging	Het
Ticrr	A	G	7: 79,344,919 (GRCm39)	S1595G	probably benign	Het
Tiprl	A	G	1: 165,064,315 (GRCm39)	S30P	probably damaging	Het
Ttl	T	C	2: 128,917,990 (GRCm39)	S151P	probably damaging	Het
Ttn	T	A	2: 76,583,334 (GRCm39)	T22520S	probably damaging	Het
Usp54	G	A	14: 20,627,540 (GRCm39)	S420L	probably damaging	Het
Vmn1r62	T	A	7: 5,678,567 (GRCm39)	Y83N	possibly damaging	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
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
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

Posted On

2015-12-18