Mutagenetix > Incidental Mutation

Incidental Mutation 'R1300:Map1b'

158324

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

039366-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1300 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99421446-99516540 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99432521 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1231 (K1231E)

Ref Sequence

ENSEMBL: ENSMUSP00000068374 (fasta)

Gene Model

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

AlphaFold

P14873

Predicted Effect

unknown
Transcript: ENSMUST00000064762
AA Change: K1231E

SMART Domains

Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: K1231E

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.4%

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
Abca12	A	G	1: 71,244,808 (GRCm38)	I2535T	probably damaging	Het
Ank3	A	G	10: 70,004,665 (GRCm38)	I952V	probably benign	Het
Ankar	A	C	1: 72,643,164 (GRCm38)	V1414G	probably benign	Het
Arl2	A	G	19: 6,141,073 (GRCm38)	M10T	probably benign	Het
Arpp21	A	G	9: 112,143,374 (GRCm38)	I352T	probably damaging	Het
BC067074	T	C	13: 113,366,160 (GRCm38)	F133S	probably damaging	Het
Cacna1e	T	A	1: 154,398,673 (GRCm38)	H2162L	probably benign	Het
Cep170b	A	C	12: 112,737,257 (GRCm38)	M622L	probably benign	Het
Cped1	T	C	6: 22,119,553 (GRCm38)	V337A	probably benign	Het
Cpn2	T	A	16: 30,259,663 (GRCm38)	T407S	probably benign	Het
Cpne4	T	C	9: 104,993,134 (GRCm38)	W263R	probably damaging	Het
Crtc1	A	G	8: 70,387,539 (GRCm38)		probably null	Het
Dennd5a	A	T	7: 109,919,407 (GRCm38)	I485N	probably benign	Het
Dnah6	T	C	6: 73,124,709 (GRCm38)	Q1892R	probably benign	Het
Dse	G	A	10: 34,152,415 (GRCm38)	A893V	probably benign	Het
Dsg1a	T	G	18: 20,332,149 (GRCm38)	S466A	probably benign	Het
Dstyk	T	C	1: 132,449,913 (GRCm38)	V419A	probably benign	Het
Eif2ak4	T	C	2: 118,463,983 (GRCm38)	V1125A	possibly damaging	Het
Ep400	C	A	5: 110,673,560 (GRCm38)	G2576C	probably damaging	Het
Eps15l1	A	T	8: 72,391,902 (GRCm38)	D162E	probably damaging	Het
Fstl4	C	A	11: 53,068,627 (GRCm38)	T165N	probably benign	Het
Gm5346	A	T	8: 43,626,844 (GRCm38)	Y114*	probably null	Het
Gm6904	A	T	14: 59,251,114 (GRCm38)	V78D	probably damaging	Het
Gm8674	T	C	13: 49,901,722 (GRCm38)		noncoding transcript	Het
Gtsf2	T	A	15: 103,444,353 (GRCm38)	L39F	possibly damaging	Het
Hck	A	C	2: 153,134,147 (GRCm38)	D202A	possibly damaging	Het
Il12b	T	A	11: 44,408,076 (GRCm38)		probably null	Het
Irf4	T	C	13: 30,757,585 (GRCm38)	L307P	probably damaging	Het
Keg1	G	A	19: 12,719,004 (GRCm38)	R184Q	probably damaging	Het
Kmt2c	T	C	5: 25,405,454 (GRCm38)	D218G	probably damaging	Het
Mapkbp1	T	C	2: 120,013,655 (GRCm38)	Y293H	probably benign	Het
Mfsd8	A	T	3: 40,823,898 (GRCm38)	D310E	probably benign	Het
Mmp9	A	T	2: 164,948,956 (GRCm38)	D88V	probably damaging	Het
Muc5ac	G	T	7: 141,816,929 (GRCm38)	C2522F	possibly damaging	Het
Myo1e	A	T	9: 70,301,783 (GRCm38)	I110F	probably damaging	Het
Neu1	A	T	17: 34,934,338 (GRCm38)	Y279F	possibly damaging	Het
Nhsl1	A	G	10: 18,408,461 (GRCm38)	H50R	probably benign	Het
Nlrp3	C	T	11: 59,555,768 (GRCm38)	S780F	possibly damaging	Het
Npc1l1	T	G	11: 6,227,859 (GRCm38)	D517A	probably damaging	Het
Olfr299	T	C	7: 86,465,743 (GRCm38)	F111L	probably benign	Het
Olfr30	T	C	11: 58,455,841 (GRCm38)	Y36C	probably damaging	Het
Olfr392	T	C	11: 73,814,246 (GRCm38)	T279A	probably benign	Het
Olfr594	G	A	7: 103,220,117 (GRCm38)	R133Q	probably benign	Het
P3h2	C	A	16: 25,997,236 (GRCm38)	E176*	probably null	Het
Parp10	C	A	15: 76,241,990 (GRCm38)	D333Y	possibly damaging	Het
Pcdhb12	C	T	18: 37,437,397 (GRCm38)	A532V	possibly damaging	Het
Pde2a	A	T	7: 101,510,404 (GRCm38)	T818S	possibly damaging	Het
Phip	A	T	9: 82,876,747 (GRCm38)	L1450Q	probably benign	Het
Pinx1	A	G	14: 63,919,410 (GRCm38)	E262G	probably benign	Het
Ppargc1a	T	C	5: 51,548,672 (GRCm38)	E19G	probably damaging	Het
Pum1	T	C	4: 130,765,961 (GRCm38)	I921T	probably damaging	Het
Rgs22	T	A	15: 36,101,762 (GRCm38)	H106L	probably benign	Het
Slc10a6	T	C	5: 103,606,684 (GRCm38)	D327G	probably benign	Het
Syt1	A	T	10: 108,631,821 (GRCm38)	V205D	possibly damaging	Het
Tep1	C	T	14: 50,827,055 (GRCm38)		probably null	Het
Thnsl2	T	A	6: 71,134,191 (GRCm38)	Q231L	probably damaging	Het
Ttc4	T	A	4: 106,667,566 (GRCm38)	H304L	probably damaging	Het
Unc5c	G	A	3: 141,828,543 (GRCm38)	V923M	possibly damaging	Het
Zfp777	T	C	6: 48,025,770 (GRCm38)	E506G	probably benign	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
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'- CTTCTCCTCAGGACTGGCACAATG -3'
(R):5'- TGTGATGAGCGACGAGACCAAC -3'

Sequencing Primer
(F):5'- GGACTGGCACAATGTTCTTCAAC -3'
(R):5'- TACCAAATATGAGTCCTCGCTG -3'

Posted On

2014-02-18