Mutagenetix > Incidental Mutation

Incidental Mutation 'R6102:Map1b'

485338

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

044252-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6102 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99557954-99653048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 99562381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 2443 (V2443G)

Ref Sequence

ENSEMBL: ENSMUSP00000068374 (fasta)

Gene Model

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

AlphaFold

P14873

Predicted Effect

unknown
Transcript: ENSMUST00000064762
AA Change: V2443G

SMART Domains

Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: V2443G

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

Meta Mutation Damage Score

0.3052

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

97% (65/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,210,849 (GRCm39)	I290T	possibly damaging	Het
Apeh	T	A	9: 107,963,638 (GRCm39)	D559V	probably damaging	Het
Aspm	T	A	1: 139,405,197 (GRCm39)	Y1361*	probably null	Het
Atad5	G	T	11: 80,002,398 (GRCm39)		probably null	Het
Ccr4	C	T	9: 114,325,561 (GRCm39)		probably null	Het
Clasrp	G	A	7: 19,320,393 (GRCm39)		probably benign	Het
Cldn23	A	G	8: 36,292,705 (GRCm39)	M261T	probably benign	Het
Cmya5	T	C	13: 93,230,739 (GRCm39)	M1450V	probably benign	Het
Cyp4v3	T	A	8: 45,773,197 (GRCm39)	E202V	probably damaging	Het
Dnah7a	A	T	1: 53,598,299 (GRCm39)	V1412E	probably benign	Het
Dnah9	A	G	11: 65,881,342 (GRCm39)	S2578P	probably damaging	Het
Dsc2	T	A	18: 20,180,165 (GRCm39)	Y196F	probably benign	Het
Exoc1	T	C	5: 76,685,626 (GRCm39)	S113P	probably damaging	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Frs3	C	T	17: 48,013,596 (GRCm39)	H173Y	probably damaging	Het
Ginm1	G	T	10: 7,644,260 (GRCm39)	T323K	probably benign	Het
Golgb1	T	C	16: 36,733,227 (GRCm39)	S825P	probably damaging	Het
Hs3st3b1	A	T	11: 63,812,681 (GRCm39)	C11*	probably null	Het
Ighv3-3	G	C	12: 114,160,080 (GRCm39)	A110G	possibly damaging	Het
Igkv6-20	G	A	6: 70,312,853 (GRCm39)	H107Y	probably benign	Het
Kcnj16	A	G	11: 110,916,403 (GRCm39)	E355G	probably benign	Het
Lig4	C	T	8: 10,022,872 (GRCm39)	G303S	probably damaging	Het
Map3k6	T	C	4: 132,974,442 (GRCm39)		probably null	Het
Mmp13	A	G	9: 7,276,688 (GRCm39)	Q261R	probably benign	Het
Mphosph9	T	A	5: 124,435,772 (GRCm39)	I554F	possibly damaging	Het
Mrgpra3	A	T	7: 47,239,897 (GRCm39)	F10I	possibly damaging	Het
Ms4a18	G	A	19: 10,990,887 (GRCm39)	T69I	probably benign	Het
Mtmr3	T	C	11: 4,437,673 (GRCm39)	N927S	probably damaging	Het
Necab1	T	A	4: 14,989,211 (GRCm39)	Q188L	probably benign	Het
Nfatc2	A	G	2: 168,361,427 (GRCm39)		probably benign	Het
Or5i1	T	C	2: 87,613,192 (GRCm39)	F103L	probably damaging	Het
Or5p70	T	C	7: 107,994,491 (GRCm39)	S55P	probably damaging	Het
Or7g34	T	C	9: 19,478,318 (GRCm39)	M121V	possibly damaging	Het
Paip2b	A	C	6: 83,785,828 (GRCm39)	V134G	possibly damaging	Het
Pax3	T	C	1: 78,108,984 (GRCm39)	T225A	probably damaging	Het
Pbx1	C	A	1: 168,011,134 (GRCm39)	A298S	probably benign	Het
Pcdhac2	A	T	18: 37,279,335 (GRCm39)	K772*	probably null	Het
Pcsk4	A	T	10: 80,161,651 (GRCm39)	Y163*	probably null	Het
Plcd3	A	G	11: 102,971,470 (GRCm39)	V58A	probably damaging	Het
Plek2	T	A	12: 78,946,867 (GRCm39)	T57S	possibly damaging	Het
Plscr2	C	T	9: 92,169,721 (GRCm39)	T57I	probably benign	Het
Ppp2r5b	A	G	19: 6,284,768 (GRCm39)	S32P	probably benign	Het
Ppp3r2	C	T	4: 49,682,022 (GRCm39)		probably benign	Het
Psme4	T	A	11: 30,815,567 (GRCm39)	L1693H	probably damaging	Het
Rrbp1	T	A	2: 143,830,313 (GRCm39)	Q618L	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Serpina3b	A	T	12: 104,100,428 (GRCm39)	T337S	probably benign	Het
Slc18a2	T	C	19: 59,282,310 (GRCm39)	Y506H	probably benign	Het
Slc9a9	A	G	9: 94,818,482 (GRCm39)	Y292C	probably benign	Het
Spta1	T	C	1: 174,052,086 (GRCm39)	V1840A	probably benign	Het
Ssb	T	C	2: 69,701,552 (GRCm39)	*416Q	probably null	Het
Strada	A	G	11: 106,059,262 (GRCm39)	V209A	probably benign	Het
Tbc1d31	A	T	15: 57,799,489 (GRCm39)	D225V	probably damaging	Het
Tgm4	T	C	9: 122,885,600 (GRCm39)	F381L	probably benign	Het
Tmem120b	T	A	5: 123,253,207 (GRCm39)	Y203N	probably damaging	Het
Tmem176b	A	G	6: 48,812,868 (GRCm39)	V109A	probably benign	Het
Tnfrsf11a	C	A	1: 105,747,671 (GRCm39)	L201M	possibly damaging	Het
Ttn	C	A	2: 76,804,694 (GRCm39)		probably null	Het
Tubb2a	T	C	13: 34,259,326 (GRCm39)	I155V	probably benign	Het
Vmn1r5	A	G	6: 56,963,099 (GRCm39)	D258G	probably damaging	Het
Vmn2r121	T	C	X: 123,043,272 (GRCm39)	T120A	probably benign	Het
Vmn2r19	A	T	6: 123,306,907 (GRCm39)	I472F	probably damaging	Het
Vwa3a	A	G	7: 120,375,361 (GRCm39)		probably null	Het
Zfp273	A	G	13: 67,970,466 (GRCm39)	Y5C	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp825	A	G	13: 74,628,772 (GRCm39)	L248P	probably 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
R3911:Map1b	UTSW	13	99,567,580 (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
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'- GTGACTTGCATCACCATGAC -3'
(R):5'- TGCTAGTGATCCAACAGACAC -3'

Sequencing Primer
(F):5'- CTGGCAGGTAATAACTGTTCAGTGAC -3'
(R):5'- TAGTGATCCAACAGACACCTTGTTC -3'

Posted On

2017-08-16