Mutagenetix > Incidental Mutation

Incidental Mutation 'R0035:Map1b'

19430

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

038329-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0035 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

99557954-99653048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99571846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 292 (S292P)

Ref Sequence

ENSEMBL: ENSMUSP00000068374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064762] [ENSMUST00000223725]

AlphaFold

P14873

Predicted Effect

probably damaging
Transcript: ENSMUST00000064762
AA Change: S292P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068374
Gene: ENSMUSG00000052727
AA Change: S292P

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

probably benign
Transcript: ENSMUST00000223725

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224702

Meta Mutation Damage Score

0.8116

Coding Region Coverage

1x: 99.1%
3x: 97.8%
10x: 94.7%
20x: 87.1%

Validation Efficiency

99% (70/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040N11Rik	T	C	7: 81,438,297 (GRCm39)	T20A	probably benign	Het
Aadacl4	A	G	4: 144,344,511 (GRCm39)	T96A	probably damaging	Het
Abcb6	A	G	1: 75,151,651 (GRCm39)	V473A	possibly damaging	Het
Abo	C	A	2: 26,733,385 (GRCm39)	K273N	possibly damaging	Het
Acvr1c	A	G	2: 58,205,791 (GRCm39)		probably benign	Het
Adcy8	A	T	15: 64,571,217 (GRCm39)	V1142D	probably benign	Het
Akna	T	A	4: 63,300,682 (GRCm39)	H591L	probably benign	Het
Aox1	T	C	1: 58,393,581 (GRCm39)	V1247A	probably benign	Het
Ap4b1	T	C	3: 103,727,980 (GRCm39)		probably benign	Het
Armh3	A	T	19: 45,879,679 (GRCm39)	M558K	probably damaging	Het
Atm	A	G	9: 53,424,480 (GRCm39)	V607A	probably benign	Het
Bltp1	T	A	3: 37,041,747 (GRCm39)	Y2708*	probably null	Het
Cass4	C	T	2: 172,258,412 (GRCm39)	P137S	probably damaging	Het
Cfap53	A	G	18: 74,433,278 (GRCm39)	E121G	probably damaging	Het
Chmp6	T	C	11: 119,807,508 (GRCm39)	V31A	probably damaging	Het
Clec4a3	T	A	6: 122,944,508 (GRCm39)	Y185N	probably damaging	Het
Clic5	A	G	17: 44,586,200 (GRCm39)	T230A	probably damaging	Het
Clspn	G	T	4: 126,458,796 (GRCm39)		probably null	Het
Cntn1	T	A	15: 92,129,969 (GRCm39)		probably benign	Het
Col4a3	G	A	1: 82,650,474 (GRCm39)	G577R	unknown	Het
Defa21	T	A	8: 21,515,784 (GRCm39)		probably null	Het
Deup1	T	C	9: 15,511,117 (GRCm39)	R221G	possibly damaging	Het
Dnah8	A	T	17: 30,902,595 (GRCm39)		probably benign	Het
Dnase1l2	A	G	17: 24,660,049 (GRCm39)	V273A	probably damaging	Het
Gm5134	T	A	10: 75,829,698 (GRCm39)	F328Y	probably benign	Het
Golph3	A	T	15: 12,339,776 (GRCm39)	E96D	probably damaging	Het
Hspd1	A	G	1: 55,122,942 (GRCm39)	V151A	probably benign	Het
Htr1f	A	C	16: 64,746,860 (GRCm39)	I144S	probably damaging	Het
Il23r	A	G	6: 67,450,772 (GRCm39)		probably benign	Het
Il25	A	G	14: 55,170,553 (GRCm39)	E42G	probably damaging	Het
Il36b	A	T	2: 24,049,890 (GRCm39)	H167L	probably benign	Het
Klrb1-ps1	C	T	6: 129,106,306 (GRCm39)	A149V	possibly damaging	Het
Kmt2e	T	A	5: 23,690,619 (GRCm39)		probably benign	Het
Ktn1	A	G	14: 47,967,836 (GRCm39)	N1167D	probably benign	Het
Lama4	T	A	10: 38,948,734 (GRCm39)	D832E	probably benign	Het
Map6	C	T	7: 98,966,815 (GRCm39)	T345I	probably damaging	Het
Mark2	A	T	19: 7,262,017 (GRCm39)		probably benign	Het
Me3	C	A	7: 89,500,967 (GRCm39)	H559Q	probably benign	Het
Myo1b	A	G	1: 51,817,541 (GRCm39)	F574L	probably damaging	Het
Nos2	T	C	11: 78,836,553 (GRCm39)	S431P	probably damaging	Het
Nr1h5	T	A	3: 102,856,889 (GRCm39)	K208*	probably null	Het
Nup214	T	C	2: 31,880,379 (GRCm39)		probably null	Het
Obp2b	T	C	2: 25,628,645 (GRCm39)	L133P	probably damaging	Het
Or14a259	T	C	7: 86,013,395 (GRCm39)	D50G	possibly damaging	Het
Or5k1	A	T	16: 58,617,485 (GRCm39)	C241*	probably null	Het
Osbp2	C	T	11: 3,667,997 (GRCm39)		probably benign	Het
Ptafr	C	A	4: 132,306,864 (GRCm39)	L85I	probably benign	Het
Ptprk	T	A	10: 28,139,504 (GRCm39)	Y76*	probably null	Het
Rad50	A	G	11: 53,545,854 (GRCm39)		probably benign	Het
Rasef	G	T	4: 73,681,091 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Tbc1d1	T	A	5: 64,414,080 (GRCm39)	I18N	probably damaging	Het
Tbc1d17	T	C	7: 44,490,832 (GRCm39)	N587D	probably benign	Het
Trank1	A	T	9: 111,195,844 (GRCm39)	K1289N	probably benign	Het
Tspyl3	A	G	2: 153,066,240 (GRCm39)	S333P	probably damaging	Het
Ush2a	G	A	1: 188,089,085 (GRCm39)	V347I	probably benign	Het
Usp17le	G	T	7: 104,418,269 (GRCm39)	S291*	probably null	Het
Usp24	T	A	4: 106,225,224 (GRCm39)	S619T	probably benign	Het
Vmn2r10	T	C	5: 109,145,467 (GRCm39)		probably benign	Het
Vmn2r78	A	G	7: 86,569,413 (GRCm39)	E102G	probably benign	Het
Vwa3b	G	A	1: 37,204,770 (GRCm39)	V85I	possibly damaging	Het
Wwp1	A	C	4: 19,631,116 (GRCm39)	I639R	probably damaging	Het
Xpo5	A	G	17: 46,551,101 (GRCm39)	T1001A	probably benign	Het
Zc3h12c	A	T	9: 52,055,047 (GRCm39)	M235K	probably benign	Het
Zfp619	G	A	7: 39,186,706 (GRCm39)	G912D	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
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
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'- TCAGGTACGTTGAGAAACACAACCC -3'
(R):5'- GGTGACATCACTGACACTTTCCCC -3'

Sequencing Primer
(F):5'- AGGGGAGATGAGGTTTTTCATCC -3'
(R):5'- CAGCTTCTATCTTGCCAGAAATGG -3'

Posted On

2013-04-11