Mutagenetix > Incidental Mutation

Incidental Mutation 'R9334:Map1b'

707021

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9334 (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 99431640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1524 (D1524E)

Ref Sequence

ENSEMBL: ENSMUSP00000068374 (fasta)

Gene Model

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

AlphaFold

P14873

Predicted Effect

unknown
Transcript: ENSMUST00000064762
AA Change: D1524E

SMART Domains

Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: D1524E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,726,454	F873L	possibly damaging	Het
Actr1b	A	T	1: 36,700,170	I346N	probably damaging	Het
Adam6b	A	C	12: 113,491,148	E528D	probably damaging	Het
Ang	A	G	14: 51,101,560	M53V	possibly damaging	Het
Ankrd26	G	A	6: 118,532,301	A601V	probably benign	Het
Atp6v0d2	A	G	4: 19,890,695	L155P	probably damaging	Het
C87499	A	T	4: 88,629,949	I73K	probably damaging	Het
Cacna1a	T	C	8: 84,569,965	V1204A	probably damaging	Het
Car4	A	G	11: 84,964,589	I183V	probably benign	Het
Ccdc149	G	T	5: 52,420,829	A87E	possibly damaging	Het
Ccdc88b	A	G	19: 6,856,173	M208T	possibly damaging	Het
Ccnt2	T	C	1: 127,795,309	L162S	probably damaging	Het
Cd27	A	G	6: 125,236,755		probably null	Het
Cfap44	C	A	16: 44,419,291	T567K	probably damaging	Het
Cpne5	C	T	17: 29,204,699	V152M	probably benign	Het
Cyp2u1	C	T	3: 131,298,416	V152M	probably damaging	Het
Dnajc13	A	T	9: 104,174,460	F1733I	probably benign	Het
Dopey1	A	G	9: 86,520,974	Y1409C	probably damaging	Het
Ecm2	T	C	13: 49,524,339	M367T	probably benign	Het
Eif4g2	A	G	7: 111,074,824	S658P	possibly damaging	Het
Exoc3l4	T	C	12: 111,430,683	L666P	probably damaging	Het
Fbxl4	G	A	4: 22,376,778	M71I	probably damaging	Het
Fbxw10	T	C	11: 62,875,084	S727P	possibly damaging	Het
Fem1b	A	T	9: 62,796,322	L552*	probably null	Het
Filip1	A	T	9: 79,818,457	V960D	probably benign	Het
Glipr1l3	A	T	10: 112,144,043	M198K	probably benign	Het
Gm19410	T	A	8: 35,803,568	C1216*	probably null	Het
Gmps	T	A	3: 63,982,443	V81E	probably damaging	Het
Gpr150	G	T	13: 76,055,984	Q281K	probably benign	Het
Grsf1	A	G	5: 88,672,610	V221A	probably damaging	Het
Gsc	T	A	12: 104,473,094	I8F	probably damaging	Het
Homer2	A	T	7: 81,611,330	C284*	probably null	Het
Hrg	T	A	16: 22,961,311	H446Q	unknown	Het
Jag1	C	T	2: 137,101,673	R201H	probably damaging	Het
Kctd15	C	T	7: 34,642,058	R148H	possibly damaging	Het
Klhdc7a	G	A	4: 139,966,182	R485C	probably benign	Het
Ldhd	T	A	8: 111,627,348	I407F	probably benign	Het
Lgals12	G	A	19: 7,600,721	R192C	probably benign	Het
Lmf2	G	A	15: 89,355,374	L26F	probably damaging	Het
Lum	A	T	10: 97,568,485	I81F	probably damaging	Het
Marveld3	A	G	8: 109,948,404	L260S	probably damaging	Het
Mms19	C	T	19: 41,953,764	R555H	probably benign	Het
Mrpl37	G	A	4: 107,064,408	T208I	probably benign	Het
Mug1	A	T	6: 121,861,531	T498S	probably benign	Het
Myo3b	T	C	2: 70,217,016	C289R	probably damaging	Het
Myo7a	A	T	7: 98,067,162	F1459Y	probably damaging	Het
Neurl4	C	A	11: 69,905,966	R518S	probably damaging	Het
Nmnat2	T	G	1: 153,073,839	V43G	probably damaging	Het
Olfr133	T	A	17: 38,148,949	F120L	probably benign	Het
Olfr222	T	C	11: 59,571,446	Y98C	probably damaging	Het
Olfr804	A	G	10: 129,705,814	N312S	probably benign	Het
Otog	A	G	7: 46,259,929	T608A	possibly damaging	Het
Pck2	G	A	14: 55,547,826	R482Q	probably damaging	Het
Pcx	G	A	19: 4,620,504	M1013I	probably benign	Het
Pex13	A	G	11: 23,655,630	M200T	probably benign	Het
Pigt	CCGTGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC	CCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC	2: 164,507,500		probably null	Het
Ptpn4	T	C	1: 119,802,384	H26R	probably benign	Het
Ralgps2	T	A	1: 156,888,029	E72V	probably damaging	Het
Scube1	A	T	15: 83,628,063	C396S	possibly damaging	Het
Sec23b	T	A	2: 144,568,630	N283K	possibly damaging	Het
Setx	T	A	2: 29,154,020	Y1800*	probably null	Het
Sgce	G	T	6: 4,707,205	S213R	probably damaging	Het
Slc36a2	T	C	11: 55,185,039		probably benign	Het
Sult5a1	A	T	8: 123,148,407	D129E	probably damaging	Het
Tacr1	A	T	6: 82,403,932	H108L	probably damaging	Het
Tnfsf10	T	A	3: 27,335,347	Y186N	probably damaging	Het
Ttc37	C	A	13: 76,132,957	T704N	possibly damaging	Het
Unc80	T	C	1: 66,649,760	S2428P	possibly damaging	Het
Vwf	G	A	6: 125,677,946	R2535H		Het
Zfp532	A	G	18: 65,623,057	I20M	probably damaging	Het

Other mutations in Map1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Map1b	APN	13	99429233	missense	unknown
IGL00533:Map1b	APN	13	99432604	missense	unknown
IGL00801:Map1b	APN	13	99430097	missense	unknown
IGL01141:Map1b	APN	13	99434761	missense	probably damaging	1.00
IGL01418:Map1b	APN	13	99431830	missense	unknown
IGL01464:Map1b	APN	13	99432743	missense	unknown
IGL01690:Map1b	APN	13	99435004	missense	probably damaging	1.00
IGL01991:Map1b	APN	13	99429569	missense	unknown
IGL02245:Map1b	APN	13	99431528	missense	unknown
IGL02376:Map1b	APN	13	99435595	missense	probably damaging	1.00
IGL02380:Map1b	APN	13	99431143	missense	unknown
IGL02442:Map1b	APN	13	99508198	missense	probably damaging	1.00
IGL02465:Map1b	APN	13	99433406	missense	unknown
IGL02816:Map1b	APN	13	99441755	missense	probably damaging	1.00
IGL02859:Map1b	APN	13	99433036	missense	unknown
IGL02934:Map1b	APN	13	99435131	missense	probably benign	0.09
IGL02970:Map1b	APN	13	99430734	nonsense	probably null
IGL03148:Map1b	APN	13	99441695	missense	probably damaging	1.00
IGL03401:Map1b	APN	13	99427268	missense	unknown
IGL03138:Map1b	UTSW	13	99425826	missense	unknown
R0006:Map1b	UTSW	13	99435302	missense	probably damaging	1.00
R0006:Map1b	UTSW	13	99435302	missense	probably damaging	1.00
R0035:Map1b	UTSW	13	99435338	missense	probably damaging	1.00
R0069:Map1b	UTSW	13	99429848	missense	unknown
R0315:Map1b	UTSW	13	99431116	missense	unknown
R0539:Map1b	UTSW	13	99434018	missense	unknown
R0548:Map1b	UTSW	13	99431683	missense	unknown
R0613:Map1b	UTSW	13	99441641	missense	probably damaging	1.00
R0730:Map1b	UTSW	13	99429766	nonsense	probably null
R1103:Map1b	UTSW	13	99427466	splice site	probably benign
R1300:Map1b	UTSW	13	99432521	missense	unknown
R1353:Map1b	UTSW	13	99427326	missense	unknown
R1387:Map1b	UTSW	13	99432650	missense	unknown
R1481:Map1b	UTSW	13	99431171	missense	unknown
R1509:Map1b	UTSW	13	99431528	missense	unknown
R1521:Map1b	UTSW	13	99432739	missense	unknown
R1604:Map1b	UTSW	13	99429572	missense	unknown
R1649:Map1b	UTSW	13	99516478	missense	probably benign	0.03
R1651:Map1b	UTSW	13	99432583	missense	unknown
R1661:Map1b	UTSW	13	99431929	missense	unknown
R1665:Map1b	UTSW	13	99431929	missense	unknown
R1770:Map1b	UTSW	13	99430493	missense	unknown
R1926:Map1b	UTSW	13	99430692	missense	unknown
R1928:Map1b	UTSW	13	99430946	missense	unknown
R2093:Map1b	UTSW	13	99429670	missense	unknown
R2110:Map1b	UTSW	13	99431121	missense	unknown
R2116:Map1b	UTSW	13	99430644	missense	unknown
R2164:Map1b	UTSW	13	99429338	missense	unknown
R2207:Map1b	UTSW	13	99431083	missense	unknown
R2273:Map1b	UTSW	13	99432084	missense	unknown
R2443:Map1b	UTSW	13	99430411	missense	unknown
R3054:Map1b	UTSW	13	99432742	missense	unknown
R3766:Map1b	UTSW	13	99434087	missense	unknown
R3911:Map1b	UTSW	13	99431072	missense	unknown
R4005:Map1b	UTSW	13	99429907	missense	unknown
R4130:Map1b	UTSW	13	99431680	missense	unknown
R4513:Map1b	UTSW	13	99444233	missense	probably damaging	1.00
R4613:Map1b	UTSW	13	99430302	nonsense	probably null
R4633:Map1b	UTSW	13	99434942	missense	probably damaging	1.00
R4646:Map1b	UTSW	13	99432469	missense	unknown
R4690:Map1b	UTSW	13	99431068	missense	unknown
R4704:Map1b	UTSW	13	99430475	missense	unknown
R4836:Map1b	UTSW	13	99431054	missense	unknown
R4916:Map1b	UTSW	13	99433300	missense	unknown
R4951:Map1b	UTSW	13	99432427	missense	unknown
R4960:Map1b	UTSW	13	99432212	missense	probably benign	0.23
R4961:Map1b	UTSW	13	99435653	missense	probably damaging	1.00
R5030:Map1b	UTSW	13	99434174	missense	unknown
R5090:Map1b	UTSW	13	99430026	nonsense	probably null
R5469:Map1b	UTSW	13	99429338	missense	unknown
R5820:Map1b	UTSW	13	99432824	missense	unknown
R5885:Map1b	UTSW	13	99430081	missense	unknown
R5915:Map1b	UTSW	13	99430331	missense	unknown
R5923:Map1b	UTSW	13	99433153	missense	unknown
R6063:Map1b	UTSW	13	99431137	missense	unknown
R6102:Map1b	UTSW	13	99425873	missense	unknown
R6218:Map1b	UTSW	13	99433206	missense	unknown
R6435:Map1b	UTSW	13	99516363	missense	probably damaging	0.99
R6663:Map1b	UTSW	13	99430022	missense	unknown
R6765:Map1b	UTSW	13	99425941	missense	unknown
R6860:Map1b	UTSW	13	99434767	missense	probably damaging	1.00
R6997:Map1b	UTSW	13	99430634	missense	unknown
R7001:Map1b	UTSW	13	99430593	missense	unknown
R7310:Map1b	UTSW	13	99433655	missense	unknown
R7349:Map1b	UTSW	13	99433640	missense	unknown
R7448:Map1b	UTSW	13	99508140	missense	probably damaging	0.99
R7449:Map1b	UTSW	13	99508140	missense	probably damaging	0.99
R7452:Map1b	UTSW	13	99508140	missense	probably damaging	0.99
R7810:Map1b	UTSW	13	99431882	missense	unknown
R7820:Map1b	UTSW	13	99431177	missense	unknown
R8396:Map1b	UTSW	13	99434113	missense	unknown
R8470:Map1b	UTSW	13	99516442	missense	probably damaging	0.98
R8535:Map1b	UTSW	13	99435154	missense	probably damaging	1.00
R8777:Map1b	UTSW	13	99430796	missense	unknown
R8777-TAIL:Map1b	UTSW	13	99430796	missense	unknown
R8812:Map1b	UTSW	13	99432815	missense	unknown
R8903:Map1b	UTSW	13	99432509	nonsense	probably null
R8928:Map1b	UTSW	13	99432116	missense	unknown
R8954:Map1b	UTSW	13	99434227	missense	unknown
R9164:Map1b	UTSW	13	99425843	missense	unknown
R9164:Map1b	UTSW	13	99432308	nonsense	probably null
R9190:Map1b	UTSW	13	99435406	missense	probably damaging	0.99
R9339:Map1b	UTSW	13	99431062	missense	unknown
R9357:Map1b	UTSW	13	99430200	nonsense	probably null
R9430:Map1b	UTSW	13	99434108	missense	unknown
RF003:Map1b	UTSW	13	99430750	missense	unknown
X0019:Map1b	UTSW	13	99429968	missense	unknown
X0019:Map1b	UTSW	13	99432412	missense	unknown
Z1088:Map1b	UTSW	13	99508115	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TGTTTGCACCACAGAAACGG -3'
(R):5'- GGGCTTCATACCCATAAAGGAAG -3'

Sequencing Primer
(F):5'- ACAGGGAGTCATCAACTTCTGTG -3'
(R):5'- GACTTTGGTCCAGAAAAGAAAACC -3'

Posted On

2022-04-18