Incidental Mutation 'IGL03156:Map1lc3a'
ID411281
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map1lc3a
Ensembl Gene ENSMUSG00000027602
Gene Namemicrotubule-associated protein 1 light chain 3 alpha
Synonyms4922501H04Rik, LC3, 1010001H21Rik, LC3a
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.268) question?
Stock #IGL03156
Quality Score
Status
Chromosome2
Chromosomal Location155276297-155278073 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 155277009 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2016-08-02