Mutagenetix > Incidental Mutation

Incidental Mutation 'R2093:Map1b'

231935

Institutional Source

Beutler Lab

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 #

R2093 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99557954-99653048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99566178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2181 (E2181G)

Ref Sequence

ENSEMBL: ENSMUSP00000068374 (fasta)

Gene Model

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

AlphaFold

P14873

Predicted Effect

unknown
Transcript: ENSMUST00000064762
AA Change: E2181G

SMART Domains

Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: E2181G

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,671,041 (GRCm39)	D421G	probably benign	Het
Adamts1	T	G	16: 85,599,333 (GRCm39)	Q89P	probably benign	Het
Arhgef10l	T	G	4: 140,297,601 (GRCm39)	N277T	possibly damaging	Het
Atp2c1	G	A	9: 105,295,320 (GRCm39)	R669*	probably null	Het
Brip1	T	C	11: 86,029,971 (GRCm39)	T558A	possibly damaging	Het
Cbr2	G	A	11: 120,621,255 (GRCm39)	T148I	probably benign	Het
Ccdc110	C	A	8: 46,395,114 (GRCm39)	T335K	probably damaging	Het
Cd44	T	G	2: 102,644,629 (GRCm39)	D731A	probably damaging	Het
Cnot1	T	C	8: 96,501,986 (GRCm39)	D44G	probably damaging	Het
Cnrip1	T	C	11: 17,002,237 (GRCm39)	V23A	probably damaging	Het
Cntnap5c	A	T	17: 58,505,995 (GRCm39)	H673L	probably benign	Het
Col3a1	C	T	1: 45,372,150 (GRCm39)	A493V	probably damaging	Het
Crem	A	T	18: 3,299,256 (GRCm39)	V19E	probably damaging	Het
Cyp2g1	A	G	7: 26,518,858 (GRCm39)	D418G	probably benign	Het
Dmrta1	A	T	4: 89,579,742 (GRCm39)	H234L	probably benign	Het
Drc3	C	T	11: 60,261,310 (GRCm39)	R154W	probably damaging	Het
Drgx	C	T	14: 32,369,112 (GRCm39)		probably benign	Het
Eef1d	A	G	15: 75,774,550 (GRCm39)	S370P	probably benign	Het
Fdx2	T	C	9: 20,984,720 (GRCm39)	H28R	probably benign	Het
Fmo5	A	G	3: 97,553,194 (GRCm39)	I381V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fras1	T	C	5: 96,929,062 (GRCm39)	L3822P	probably damaging	Het
Gm3604	G	T	13: 62,517,420 (GRCm39)	H313N	possibly damaging	Het
Heatr4	T	C	12: 84,021,855 (GRCm39)	E460G	possibly damaging	Het
Ino80	T	A	2: 119,257,151 (GRCm39)	H834L	possibly damaging	Het
Insr	A	T	8: 3,254,762 (GRCm39)	C331S	probably damaging	Het
Itih4	C	T	14: 30,613,694 (GRCm39)	L304F	probably damaging	Het
Klhdc3	C	T	17: 46,988,879 (GRCm39)	V104I	probably benign	Het
Lrp2	C	T	2: 69,366,365 (GRCm39)	D245N	probably benign	Het
Map2	T	C	1: 66,438,599 (GRCm39)	V41A	probably damaging	Het
Mical3	A	T	6: 121,017,347 (GRCm39)	H156Q	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Myo5b	T	A	18: 74,892,263 (GRCm39)	L1669Q	probably damaging	Het
Nme8	G	A	13: 19,835,042 (GRCm39)	S548F	probably damaging	Het
Npas1	A	T	7: 16,193,202 (GRCm39)	N408K	probably benign	Het
Or1j11	A	T	2: 36,311,941 (GRCm39)	Y177F	probably benign	Het
Or8k30	A	C	2: 86,339,587 (GRCm39)	Q261H	probably damaging	Het
Pcnx4	T	C	12: 72,626,216 (GRCm39)	Y1141H	probably damaging	Het
Pmaip1	C	A	18: 66,594,052 (GRCm39)	P64Q	probably damaging	Het
Ranbp3	T	A	17: 57,017,145 (GRCm39)	M387K	probably damaging	Het
Rbm4	A	G	19: 4,837,792 (GRCm39)	Y231H	probably damaging	Het
Rpgrip1l	T	C	8: 91,996,760 (GRCm39)	S105G	possibly damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rtn3	A	T	19: 7,434,215 (GRCm39)	D573E	probably damaging	Het
Rxrg	T	C	1: 167,454,893 (GRCm39)	C159R	probably damaging	Het
Sdk2	T	C	11: 113,833,948 (GRCm39)	Y78C	probably damaging	Het
Smu1	A	G	4: 40,738,438 (GRCm39)	V432A	probably benign	Het
Spag1	T	C	15: 36,224,276 (GRCm39)	L609P	probably damaging	Het
Spata21	T	G	4: 140,824,277 (GRCm39)	V180G	probably benign	Het
Spata31e2	G	T	1: 26,721,222 (GRCm39)	Y1319*	probably null	Het
Sptlc3	A	T	2: 139,467,794 (GRCm39)	I451F	possibly damaging	Het
Srl	A	G	16: 4,340,896 (GRCm39)	C8R	unknown	Het
Tmprss13	A	G	9: 45,256,340 (GRCm39)	R485G	probably damaging	Het
Trpv4	C	T	5: 114,773,565 (GRCm39)	A266T	probably damaging	Het
Vmn1r198	A	G	13: 22,538,855 (GRCm39)	T25A	probably benign	Het
Vmn2r77	T	C	7: 86,450,702 (GRCm39)	V196A	probably benign	Het
Vmn2r82	C	T	10: 79,231,813 (GRCm39)	T604I	probably benign	Het
Zfp268	C	A	4: 145,349,139 (GRCm39)	T192N	probably benign	Het
Zfp354a	C	T	11: 50,960,551 (GRCm39)	T254I	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGAGGACTTGGTCTTTGTGCC -3'
(R):5'- TGGTGAAGAGCCCACTGAAG -3'

Sequencing Primer
(F):5'- GGTCTTGGTCTTCTCCTTCAGG -3'
(R):5'- TCACTCAGTCTGGAGGAGC -3'

Posted On

2014-09-18