Mutagenetix > Incidental Mutation

Incidental Mutation 'RF003:Map1b'

602650

Institutional Source

Beutler Lab

Gene Symbol

Map1b

Ensembl Gene

ENSMUSG00000052727

Gene Name

microtubule-associated protein 1B

Synonyms

Mtap1b, MAP5, Mtap-5, Mtap5, LC1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF003 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99421446-99516540 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 99430750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 1821 (A1821E)

Ref Sequence

ENSEMBL: ENSMUSP00000068374 (fasta)

Gene Model

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

AlphaFold

P14873

Predicted Effect

unknown
Transcript: ENSMUST00000064762
AA Change: A1821E

SMART Domains

Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: A1821E

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	AACC	A	7: 40,993,055 (GRCm38)		probably benign	Het
A630073D07Rik	A	C	6: 132,627,443 (GRCm38)	L13R	unknown	Het
Alg9	GGC	GGCCGC	9: 50,775,427 (GRCm38)		probably benign	Het
Arb2a	A	T	13: 77,834,675 (GRCm38)	I135L	possibly damaging	Het
Arc	G	C	15: 74,672,131 (GRCm38)	T81S	probably benign	Het
Atad5	A	T	11: 80,111,560 (GRCm38)	K1059N	probably damaging	Het
Bdp1	C	A	13: 100,060,449 (GRCm38)	V1143F	probably benign	Het
Bdp1	C	A	13: 100,060,450 (GRCm38)	Q1142H	probably benign	Het
Ccdc33	T	C	9: 58,058,291 (GRCm38)	S583G	probably benign	Het
Cd109	TTAT	TTATTTATTTATATAT	9: 78,712,531 (GRCm38)		probably benign	Het
Cep192	A	T	18: 67,837,956 (GRCm38)	R1009S	probably benign	Het
Clvs2	T	A	10: 33,622,925 (GRCm38)	H3L	probably damaging	Het
Cnot6	T	C	11: 49,702,613 (GRCm38)	M14V	probably benign	Het
Colec10	A	G	15: 54,462,391 (GRCm38)	R206G	possibly damaging	Het
Dennd6a	T	C	14: 26,629,534 (GRCm38)	I598T	probably damaging	Het
Dmrt2	T	C	19: 25,678,134 (GRCm38)	S366P	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,910,131 (GRCm38)		probably null	Het
Efhb	T	C	17: 53,400,891 (GRCm38)	D748G	probably damaging	Het
Etl4	C	T	2: 20,519,918 (GRCm38)	Q21*	probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT	17: 23,762,166 (GRCm38)		probably null	Het
Fmn1	ACCTCC	ACCTCCCCCTCC	2: 113,525,786 (GRCm38)		probably benign	Het
Fsip2	T	A	2: 82,991,521 (GRCm38)	M5866K	probably benign	Het
Gab3	CTT	CTTATT	X: 75,000,006 (GRCm38)		probably null	Het
Garin5a	C	CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA	7: 44,500,527 (GRCm38)		probably null	Het
Gnl2	T	A	4: 125,043,725 (GRCm38)		probably null	Het
Grip2	C	T	6: 91,783,593 (GRCm38)	R341Q	probably benign	Het
Hmcn1	T	A	1: 150,624,561 (GRCm38)	H3960L	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778 (GRCm38)	Y56*	probably null	Het
Il12a	A	T	3: 68,695,229 (GRCm38)	T102S	probably benign	Het
Il1a	T	A	2: 129,302,932 (GRCm38)	I189F	possibly damaging	Het
Inpp4b	T	A	8: 81,969,521 (GRCm38)	Y361*	probably null	Het
Iqcf4	CTTTTCCTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT	9: 106,570,607 (GRCm38)		probably benign	Het
Irag2	AGCACATTG	AGCACATTGTGCACATTG	6: 145,173,783 (GRCm38)		probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378 (GRCm38)		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 95,940,816 (GRCm38)		probably benign	Het
Lrrc8d	T	C	5: 105,812,641 (GRCm38)	Y306H	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 71,118,820 (GRCm38)		probably benign	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA	2: 121,306,296 (GRCm38)		probably benign	Het
Maz	A	G	7: 127,025,497 (GRCm38)	C284R	probably damaging	Het
Med23	A	G	10: 24,903,785 (GRCm38)	H920R	probably damaging	Het
Megf10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	18: 57,294,027 (GRCm38)		probably benign	Het
Mmp14	C	T	14: 54,439,014 (GRCm38)	R339*	probably null	Het
Mroh9	T	G	1: 163,058,061 (GRCm38)	K334T	probably damaging	Het
Nab1	A	T	1: 52,479,282 (GRCm38)	C320S	probably damaging	Het
Noto	T	C	6: 85,424,210 (GRCm38)	S74P	probably benign	Het
Nudt4	T	C	10: 95,549,374 (GRCm38)	N152D	possibly damaging	Het
Nup155	T	TTTTG	15: 8,119,176 (GRCm38)		probably benign	Het
Nusap1	AGCTGAGA	AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA	2: 119,627,603 (GRCm38)		probably benign	Het
Or10al2	A	C	17: 37,672,858 (GRCm38)	K278N	probably damaging	Het
Or2d4	T	A	7: 106,944,648 (GRCm38)	M118L	probably damaging	Het
Or2t48	CA	C	11: 58,529,157 (GRCm38)		probably null	Het
Or51f1e	TTA	TTAGTA	7: 103,098,306 (GRCm38)		probably null	Het
Or51f1e	GTTAT	GTTATTAT	7: 103,098,305 (GRCm38)			Het
Or7g16	T	C	9: 18,815,482 (GRCm38)	T271A	probably benign	Het
Or9a7	T	C	6: 40,544,362 (GRCm38)	I206V	probably benign	Het
Plxnc1	T	C	10: 94,794,444 (GRCm38)	Y1531C	probably damaging	Het
Pnma8b	TGA	TGAAGA	7: 16,946,016 (GRCm38)		probably benign	Het
Rp1	A	G	1: 4,344,694 (GRCm38)	V2065A	probably damaging	Het
Sbp	AAGATGCTGACAACA	AAGATGCTGACAACAGAGATGCTGACAACA	17: 23,945,369 (GRCm38)		probably benign	Het
Sepsecs	G	A	5: 52,647,191 (GRCm38)	T379M	probably benign	Het
Sfswap	GGCC	GGCCCACTCTGCC	5: 129,569,764 (GRCm38)		probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,370 (GRCm38)		probably benign	Het
Tfeb	C	T	17: 47,788,078 (GRCm38)	T259I	possibly damaging	Het
Tgoln1	A	AAACTCAG	6: 72,616,352 (GRCm38)		probably null	Het
Tmem94	G	A	11: 115,796,132 (GRCm38)	V1108M	probably damaging	Het
Usp35	T	C	7: 97,322,096 (GRCm38)	K297E	possibly damaging	Het
Vcpkmt	T	A	12: 69,582,824 (GRCm38)	T55S	possibly damaging	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,036,483 (GRCm38)		probably benign	Het
Zfp384	GGCCC	GGCCCTGGCCCAAGCCC	6: 125,036,476 (GRCm38)		probably benign	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471 (GRCm38)		probably benign	Het
Zfp407	A	T	18: 84,209,563 (GRCm38)	S1974T	probably benign	Het
Zfp677	T	C	17: 21,397,442 (GRCm38)	S254P	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
R5885:Map1b	UTSW	13	99,430,081 (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
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'- CTTCTTCATCTGGAGATCCGG -3'
(R):5'- GTTGTTCCTCCCAGAGAGATG -3'

Sequencing Primer
(F):5'- AGATCCGGCGGCATTCTCAG -3'
(R):5'- CCTCACTTGCGTCTGAAAAAGTG -3'

Posted On

2019-12-04