Mutagenetix > Incidental Mutation

Incidental Mutation 'R0548:Map1b'

44991

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

038740-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0548 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99557954-99653048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99568191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1510 (K1510R)

Ref Sequence

ENSEMBL: ENSMUSP00000068374 (fasta)

Gene Model

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

AlphaFold

P14873

Predicted Effect

unknown
Transcript: ENSMUST00000064762
AA Change: K1510R

SMART Domains

Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: K1510R

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

0.0611

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

97% (62/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	G	8: 41,279,504 (GRCm39)	C632G	probably damaging	Het
Adamtsl3	T	C	7: 82,178,191 (GRCm39)		probably null	Het
Agfg1	A	G	1: 82,864,152 (GRCm39)	T447A	probably damaging	Het
Ankrd37	C	T	8: 46,451,433 (GRCm39)		probably null	Het
Apob	A	T	12: 8,056,282 (GRCm39)	D1555V	probably damaging	Het
Asxl3	T	A	18: 22,654,849 (GRCm39)		probably benign	Het
Brca2	C	A	5: 150,468,400 (GRCm39)	D2242E	probably damaging	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Cdk5rap2	A	T	4: 70,267,379 (GRCm39)		probably null	Het
Cox10	A	T	11: 63,867,178 (GRCm39)	Y273N	probably damaging	Het
Dcbld2	A	T	16: 58,275,508 (GRCm39)	D408V	probably damaging	Het
Enam	A	T	5: 88,650,964 (GRCm39)	E824D	probably damaging	Het
Epm2aip1	T	C	9: 111,102,409 (GRCm39)	Y461H	probably damaging	Het
Fam72a	T	A	1: 131,461,599 (GRCm39)	S95T	probably damaging	Het
Fiz1	A	T	7: 5,012,167 (GRCm39)	V117D	possibly damaging	Het
Gm10355	C	T	3: 101,214,376 (GRCm39)		noncoding transcript	Het
Gm11595	A	T	11: 99,662,967 (GRCm39)	C238S	unknown	Het
Gm7589	T	G	9: 59,053,439 (GRCm39)		noncoding transcript	Het
H6pd	A	T	4: 150,066,073 (GRCm39)	V771E	probably damaging	Het
Htt	T	C	5: 35,028,090 (GRCm39)	L1782P	probably damaging	Het
Il33	T	C	19: 29,932,047 (GRCm39)	S147P	probably benign	Het
Lct	T	C	1: 128,212,932 (GRCm39)	Y1907C	probably damaging	Het
Lrp2	G	A	2: 69,367,982 (GRCm39)		probably benign	Het
Maco1	T	C	4: 134,533,971 (GRCm39)	D550G	probably damaging	Het
Marco	T	C	1: 120,419,767 (GRCm39)	T187A	probably benign	Het
Mki67	A	T	7: 135,298,637 (GRCm39)	N2132K	possibly damaging	Het
Mki67	T	A	7: 135,296,985 (GRCm39)	K2683M	probably damaging	Het
Mmp15	T	C	8: 96,098,979 (GRCm39)	V602A	probably damaging	Het
Mphosph10	T	A	7: 64,028,548 (GRCm39)	M536L	probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
N4bp2	G	T	5: 65,965,496 (GRCm39)	V1182L	probably benign	Het
Nlrc5	C	A	8: 95,248,411 (GRCm39)	F1715L	probably null	Het
Nsd2	T	A	5: 34,050,882 (GRCm39)	V1253E	probably damaging	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or2a52	T	A	6: 43,144,121 (GRCm39)	I43K	probably benign	Het
Or4c120	C	A	2: 89,000,992 (GRCm39)	C188F	probably damaging	Het
Or8g18	A	T	9: 39,149,667 (GRCm39)	S18T	probably benign	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Pi4ka	A	T	16: 17,125,582 (GRCm39)	N4K	possibly damaging	Het
Plxna4	A	T	6: 32,134,950 (GRCm39)	I1751N	probably damaging	Het
Postn	C	A	3: 54,274,997 (GRCm39)	S122*	probably null	Het
Ppp4r4	A	T	12: 103,579,074 (GRCm39)	R762*	probably null	Het
Rrm1	G	T	7: 102,116,274 (GRCm39)		probably null	Het
Rrp15	A	G	1: 186,468,431 (GRCm39)	V195A	probably benign	Het
Rtl1	T	A	12: 109,558,089 (GRCm39)	D1250V	probably damaging	Het
Rxrg	T	C	1: 167,458,788 (GRCm39)		probably benign	Het
Scn10a	T	C	9: 119,494,994 (GRCm39)	K416E	probably benign	Het
Serping1	T	C	2: 84,600,425 (GRCm39)		probably benign	Het
Slc12a6	T	C	2: 112,166,269 (GRCm39)		probably null	Het
Smo	A	T	6: 29,759,585 (GRCm39)	Q639L	possibly damaging	Het
Synrg	T	C	11: 83,873,014 (GRCm39)		probably benign	Het
Tars2	T	C	3: 95,649,971 (GRCm39)	D470G	probably damaging	Het
Tln1	T	C	4: 43,542,709 (GRCm39)	N1399S	possibly damaging	Het
Tmem131	A	G	1: 36,877,119 (GRCm39)	V240A	probably damaging	Het
Tmem232	G	A	17: 65,689,615 (GRCm39)	T500I	probably benign	Het
Toporsl	G	A	4: 52,612,140 (GRCm39)	V678M	possibly damaging	Het
Vmn1r7	A	T	6: 57,002,066 (GRCm39)	F65I	probably damaging	Het
Wdfy4	C	T	14: 32,764,578 (GRCm39)	M2257I	probably benign	Het
Wdr20rt	T	A	12: 65,274,089 (GRCm39)	D344E	probably benign	Het
Xirp2	C	T	2: 67,344,758 (GRCm39)	A2333V	probably benign	Het
Zfyve16	T	C	13: 92,631,452 (GRCm39)	K1381R	probably benign	Het
Zscan18	G	T	7: 12,508,103 (GRCm39)	P466T	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
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
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'- CATGCAGAGAAGGAGACACGTCATC -3'
(R):5'- AATGGAAAGCAGGGCTTCCCAG -3'

Sequencing Primer
(F):5'- AGACACGTCATCTGTGGTTG -3'
(R):5'- GAAAGCCCAGTTTCTGACCTG -3'

Posted On

2013-06-11