Mutagenetix > Incidental Mutation

Incidental Mutation 'R0315:Map1b'

25415

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

038525-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0315 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99421446-99516540 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99431116 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1699 (I1699N)

Ref Sequence

ENSEMBL: ENSMUSP00000068374 (fasta)

Gene Model

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

AlphaFold

P14873

Predicted Effect

unknown
Transcript: ENSMUST00000064762
AA Change: I1699N

SMART Domains

Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: I1699N

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

0.0869

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.9%
20x: 88.9%

Validation Efficiency

100% (42/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,515,452 (GRCm38)	R409Q	possibly damaging	Het
Ank3	A	T	10: 70,002,517 (GRCm38)	Q825L	probably damaging	Het
Ap1g1	A	G	8: 109,819,035 (GRCm38)	I107V	probably benign	Het
Bub1b	A	T	2: 118,626,976 (GRCm38)		probably benign	Het
Cd86	C	T	16: 36,620,944 (GRCm38)	V54I	possibly damaging	Het
Dpys	T	G	15: 39,857,338 (GRCm38)	I9L	probably benign	Het
Fbxl17	G	A	17: 63,356,851 (GRCm38)	R67C	probably damaging	Het
Flg2	G	T	3: 93,214,722 (GRCm38)	G1400C	unknown	Het
Gm28042	T	C	2: 120,039,057 (GRCm38)	L634P	probably damaging	Het
Gm6712	G	A	17: 17,316,118 (GRCm38)		noncoding transcript	Het
Gpbp1	T	G	13: 111,436,538 (GRCm38)	E360A	possibly damaging	Het
Hmgn1	A	C	16: 96,124,817 (GRCm38)	I52R	probably benign	Het
Ing2	A	C	8: 47,669,090 (GRCm38)	M141R	probably benign	Het
Klhl2	A	T	8: 64,743,019 (GRCm38)	Y563*	probably null	Het
Lrrc9	A	G	12: 72,456,028 (GRCm38)	T258A	probably damaging	Het
Map2k5	A	T	9: 63,303,151 (GRCm38)	H185Q	probably damaging	Het
Mpv17l	A	T	16: 13,940,999 (GRCm38)	I96L	probably benign	Het
Mroh1	C	T	15: 76,427,600 (GRCm38)	A511V	possibly damaging	Het
Nop53	T	C	7: 15,945,310 (GRCm38)	D90G	probably damaging	Het
Or10k2	T	C	8: 83,541,372 (GRCm38)	V76A	possibly damaging	Het
Or5b97	A	T	19: 12,901,234 (GRCm38)	V182D	possibly damaging	Het
Or5w20	A	T	2: 87,897,066 (GRCm38)	Y289F	probably damaging	Het
Or6c209	T	A	10: 129,647,497 (GRCm38)	I123N	probably damaging	Het
Pkd2	T	A	5: 104,459,850 (GRCm38)	S72T	possibly damaging	Het
Prc1	T	C	7: 80,313,536 (GRCm38)	S587P	probably damaging	Het
Rdh7	G	T	10: 127,888,396 (GRCm38)	T73K	possibly damaging	Het
Runx1	T	C	16: 92,605,767 (GRCm38)	N429S	probably damaging	Het
Skint7	G	A	4: 111,988,118 (GRCm38)	A376T	possibly damaging	Het
Slc16a14	T	C	1: 84,912,496 (GRCm38)	I363V	possibly damaging	Het
Smarcal1	C	T	1: 72,595,811 (GRCm38)	Q350*	probably null	Het
Soat1	T	A	1: 156,440,513 (GRCm38)	K275*	probably null	Het
Speg	T	C	1: 75,415,136 (GRCm38)	V1571A	possibly damaging	Het
Stat5b	G	C	11: 100,788,460 (GRCm38)	D605E	probably benign	Het
Susd4	G	A	1: 182,858,512 (GRCm38)	R209H	probably benign	Het
Tlr1	T	G	5: 64,926,928 (GRCm38)	D102A	probably damaging	Het
Tm4sf5	A	G	11: 70,510,636 (GRCm38)	N154D	probably damaging	Het
Tmigd3	T	A	3: 105,916,769 (GRCm38)	M18K	probably damaging	Het
Ube2h	A	T	6: 30,241,413 (GRCm38)	V86E	probably damaging	Het
Utp20	A	G	10: 88,807,421 (GRCm38)	L613P	probably damaging	Het
Vmn2r117	G	A	17: 23,460,165 (GRCm38)	S695L	probably benign	Het
Washc5	T	C	15: 59,341,976 (GRCm38)	D427G	probably damaging	Het
Zfp462	T	A	4: 55,079,314 (GRCm38)	F2403I	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
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
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'- AGGACATCTCTCTGGGAGGAACAAC -3'
(R):5'- GTGGGTTCTCCACATTCCACAGAAG -3'

Sequencing Primer
(F):5'- CAACATCAGAGAGAGTGTCTTCCTG -3'
(R):5'- ACAGAAGTTGATGACTCCCTGTC -3'

Posted On

2013-04-16