Mutagenetix > Incidental Mutation

Incidental Mutation 'R3911:Map1b'

309409

Institutional Source

Beutler Lab

Gene Symbol

Map1b

Ensembl Gene

ENSMUSG00000052727

Gene Name

microtubule-associated protein 1B

Synonyms

Mtap1b, Mtap-5, MAP5, Mtap5, LC1

MMRRC Submission

040909-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99557954-99653048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99567580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1714 (S1714P)

Ref Sequence

ENSEMBL: ENSMUSP00000068374 (fasta)

Gene Model

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

AlphaFold

P14873

Predicted Effect

unknown
Transcript: ENSMUST00000064762
AA Change: S1714P

SMART Domains

Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: S1714P

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

0.0897

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	A	5: 124,227,909 (GRCm39)	I111F	probably benign	Het
Abcc12	A	C	8: 87,255,048 (GRCm39)		probably benign	Het
Adgre1	G	T	17: 57,754,860 (GRCm39)	V653L	probably damaging	Het
Aebp2	T	A	6: 140,593,707 (GRCm39)	D230E	probably damaging	Het
Asap3	A	G	4: 135,956,768 (GRCm39)		probably benign	Het
Bod1l	T	C	5: 41,974,441 (GRCm39)	E2291G	probably damaging	Het
Casp8	A	T	1: 58,872,864 (GRCm39)	S267C	probably damaging	Het
Cchcr1	T	C	17: 35,836,233 (GRCm39)	V341A	probably damaging	Het
Cd2ap	T	A	17: 43,126,980 (GRCm39)		probably null	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Clip1	T	A	5: 123,728,897 (GRCm39)	E1155D	probably damaging	Het
Cnnm2	A	G	19: 46,866,375 (GRCm39)	E841G	probably damaging	Het
Cntrl	G	A	2: 35,010,061 (GRCm39)	R245H	probably damaging	Het
Cyp2b23	A	T	7: 26,380,842 (GRCm39)	S128T	probably benign	Het
Dhrs11	A	T	11: 84,712,579 (GRCm39)	I196N	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Edc3	A	T	9: 57,655,686 (GRCm39)	I479F	possibly damaging	Het
Emg1	T	A	6: 124,682,009 (GRCm39)	M172L	probably benign	Het
Epha7	G	A	4: 28,938,680 (GRCm39)	V512I	probably benign	Het
Exoc7	T	C	11: 116,197,731 (GRCm39)	D27G	probably benign	Het
Fasl	C	A	1: 161,615,760 (GRCm39)	C32F	probably benign	Het
Flg	A	T	3: 93,187,307 (GRCm39)	H253L	probably benign	Het
Fnip2	A	T	3: 79,386,812 (GRCm39)	D971E	possibly damaging	Het
Gab2	A	G	7: 96,948,280 (GRCm39)	Y290C	probably damaging	Het
Gm17067	T	A	7: 42,360,104 (GRCm39)	I43L	possibly damaging	Het
Gpld1	A	G	13: 25,146,305 (GRCm39)	Y183C	probably damaging	Het
Gpr137c	C	A	14: 45,516,392 (GRCm39)	P327T	probably benign	Het
Hepacam2	A	G	6: 3,494,477 (GRCm39)	M1T	probably null	Het
Ighv5-4	A	T	12: 113,561,060 (GRCm39)		probably benign	Het
Iqca1l	A	T	5: 24,750,440 (GRCm39)		probably benign	Het
Itgb8	T	A	12: 119,131,740 (GRCm39)	E635V	possibly damaging	Het
Kat14	T	C	2: 144,245,982 (GRCm39)	V469A	probably damaging	Het
Kcnj15	C	T	16: 95,097,329 (GRCm39)	T317I	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhl18	A	T	9: 110,265,151 (GRCm39)	L285Q	probably damaging	Het
Krt90	G	A	15: 101,471,218 (GRCm39)	R15W	probably damaging	Het
Krtap4-8	A	T	11: 99,670,863 (GRCm39)	C203S	unknown	Het
Lsp1	C	T	7: 142,040,098 (GRCm39)	S75F	probably damaging	Het
Mcm2	A	G	6: 88,865,234 (GRCm39)	I481T	probably damaging	Het
Mcpt9	T	C	14: 56,265,136 (GRCm39)	T122A	probably benign	Het
Megf10	A	T	18: 57,422,465 (GRCm39)	R947W	probably damaging	Het
Or2ag18	A	T	7: 106,405,072 (GRCm39)	V199D	probably damaging	Het
Or51ai2	A	T	7: 103,586,616 (GRCm39)	N10Y	possibly damaging	Het
Pank4	A	G	4: 155,054,058 (GRCm39)	Y79C	probably damaging	Het
Pds5b	T	A	5: 150,670,171 (GRCm39)	N386K	probably benign	Het
Pfkm	A	G	15: 98,022,928 (GRCm39)	M362V	probably benign	Het
Phc2	T	C	4: 128,637,351 (GRCm39)		probably null	Het
Pou4f1	C	T	14: 104,703,611 (GRCm39)	A274T	unknown	Het
Proc	A	G	18: 32,256,758 (GRCm39)	L303P	probably damaging	Het
Ptk2b	C	T	14: 66,394,517 (GRCm39)	G821D	possibly damaging	Het
Rlim	T	C	X: 103,006,267 (GRCm39)	T545A	probably benign	Het
Serpinb6c	T	C	13: 34,077,888 (GRCm39)	N161D	probably benign	Het
Sf3b1	G	A	1: 55,058,548 (GRCm39)	Q14*	probably null	Het
Sh3d19	G	A	3: 86,014,534 (GRCm39)	V442M	possibly damaging	Het
Slc30a8	A	G	15: 52,185,097 (GRCm39)	I140V	probably benign	Het
Spata1	T	A	3: 146,181,079 (GRCm39)	N293I	probably damaging	Het
Strap	T	G	6: 137,712,380 (GRCm39)	C10G	probably damaging	Het
Tcf7	C	A	11: 52,173,793 (GRCm39)		probably benign	Het
Tmem114	A	T	16: 8,230,054 (GRCm39)	M116K	probably damaging	Het
Tmem63b	A	G	17: 45,988,884 (GRCm39)	S113P	probably damaging	Het
Tmtc3	A	C	10: 100,284,888 (GRCm39)	N582K	probably damaging	Het
Tnfrsf11b	G	A	15: 54,119,578 (GRCm39)		probably benign	Het
Tns2	T	C	15: 102,022,272 (GRCm39)		probably null	Het
Trim30a	A	G	7: 104,060,348 (GRCm39)	V476A	probably damaging	Het
Ush2a	T	A	1: 188,132,151 (GRCm39)	V791D	probably benign	Het
Vmn2r99	T	C	17: 19,614,635 (GRCm39)	F785S	possibly damaging	Het
Vps35l	A	G	7: 118,345,613 (GRCm39)	T49A	possibly damaging	Het
Wdr35	A	T	12: 9,036,077 (GRCm39)	I283F	probably benign	Het
Wnt10b	G	T	15: 98,672,219 (GRCm39)	A166E	possibly 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
R2093:Map1b	UTSW	13	99,566,178 (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
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'- TAAAGGTGAGGACTCTCGTGG -3'
(R):5'- CTTTAGTCGGCAGTCTCCAGATC -3'

Sequencing Primer
(F):5'- ATCAGATTTCGGAGAGAGCTTC -3'
(R):5'- AGTCTCCAGATCACCCTACTCTGG -3'

Posted On

2015-04-17