Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03156:Map1lc3a'

411281

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map1lc3a

Ensembl Gene

ENSMUSG00000027602

Gene Name

microtubule-associated protein 1 light chain 3 alpha

Synonyms

4922501H04Rik, LC3, 1010001H21Rik, LC3a

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

IGL03156

Quality Score

Status

Chromosome

Chromosomal Location

155276297-155278073 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155277009 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 31 (I31N)

Ref Sequence

ENSEMBL: ENSMUSP00000029128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029128] [ENSMUST00000077626] [ENSMUST00000165234]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029128
AA Change: I31N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029128
Gene: ENSMUSG00000027602
AA Change: I31N

Domain	Start	End	E-Value	Type
Pfam:Atg8	15	120	9.1e-47	PFAM
Pfam:APG12	33	120	4.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000077626

SMART Domains

Protein: ENSMUSP00000076816
Gene: ENSMUSG00000038383

Domain	Start	End	E-Value	Type
Pfam:PIG-U	10	394	2.6e-119	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145086

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154596

Predicted Effect

probably benign
Transcript: ENSMUST00000165234

SMART Domains

Protein: ENSMUSP00000126236
Gene: ENSMUSG00000038383

Domain	Start	End	E-Value	Type
Pfam:PIG-U	10	393	1.7e-116	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MAP1A and MAP1B are microtubule-associated proteins which mediate the physical interactions between microtubules and components of the cytoskeleton. MAP1A and MAP1B each consist of a heavy chain subunit and multiple light chain subunits. The protein encoded by this gene is one of the light chain subunits and can associate with either MAP1A or MAP1B. Two transcript variants encoding different isoforms have been found for this gene. The expression of variant 1 is suppressed in many tumor cell lines, suggesting that may be involved in carcinogenesis. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	T	19: 11,105,750	I102K	possibly damaging	Het
4930430A15Rik	T	C	2: 111,200,412	D12G	possibly damaging	Het
Abca16	T	C	7: 120,423,851	I70T	possibly damaging	Het
Acot11	A	G	4: 106,754,136	Y365H	probably damaging	Het
Bdp1	A	G	13: 100,061,036	V947A	probably benign	Het
Ccdc159	G	T	9: 21,929,475	V113L	probably benign	Het
Cep350	T	C	1: 155,858,042	D3035G	probably damaging	Het
Clca1	T	A	3: 145,013,911	I433F	probably damaging	Het
Cntn5	T	C	9: 9,673,877	Y740C	probably damaging	Het
Dennd5a	C	A	7: 109,919,255		probably benign	Het
Des	G	A	1: 75,362,996	E333K	probably damaging	Het
Dnah7a	T	C	1: 53,605,824	R1018G	probably damaging	Het
Eif2b2	G	T	12: 85,219,721	A54S	probably damaging	Het
Gm7276	C	T	18: 77,185,603		probably benign	Het
Hsbp1l1	A	G	18: 80,235,519		probably benign	Het
Iars	G	A	13: 49,703,179	G303S	possibly damaging	Het
Il18r1	A	G	1: 40,498,368	E431G	possibly damaging	Het
Lrrc14b	A	G	13: 74,363,904	V19A	probably benign	Het
Obscn	T	C	11: 59,054,896	Y4163C	probably damaging	Het
Olfr478	T	A	7: 108,032,351		probably benign	Het
Pcsk1	A	G	13: 75,131,951	T632A	probably benign	Het
Ppp1r15a	A	G	7: 45,525,171	L71P	possibly damaging	Het
Ptgs2	T	G	1: 150,105,477	F504V	probably damaging	Het
Rimbp2	T	G	5: 128,771,757	R908S	probably damaging	Het
Rnh1	T	C	7: 141,163,183	N268S	probably damaging	Het
Sap30l	T	C	11: 57,806,168		probably null	Het
Scara3	C	T	14: 65,931,154	R338H	probably damaging	Het
Serpina12	T	C	12: 104,037,899	Y158C	probably damaging	Het
Tmem237	A	T	1: 59,109,127	D148E	probably damaging	Het
Trmt13	T	C	3: 116,585,802	D232G	probably benign	Het
Zan	T	A	5: 137,463,939	T993S	unknown	Het
Zfp236	G	A	18: 82,680,702	L85F	probably damaging	Het
Zfp352	G	A	4: 90,224,087	D155N	possibly damaging	Het
Zfp867	T	C	11: 59,465,008		probably benign	Het
Zmiz2	T	C	11: 6,399,536	F399L	probably damaging	Het

Other mutations in Map1lc3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
intricate	UTSW	2	155277209	unclassified	probably benign
R0734:Map1lc3a	UTSW	2	155276976	missense	possibly damaging	0.54
R4049:Map1lc3a	UTSW	2	155277542	missense	possibly damaging	0.94
R6213:Map1lc3a	UTSW	2	155277015	critical splice donor site	probably null
R8046:Map1lc3a	UTSW	2	155277209	unclassified	probably benign
X0027:Map1lc3a	UTSW	2	155277632	missense	probably benign

Posted On

2016-08-02