Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02709:Map1lc3b'

304490

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map1lc3b

Ensembl Gene

ENSMUSG00000031812

Gene Name

microtubule-associated protein 1 light chain 3 beta

Synonyms

Atg8, Map1lc3, 1010001C15Rik, LC3b

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02709

Quality Score

Status

Chromosome

Chromosomal Location

122317177-122325499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122322768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 82 (L82Q)

Ref Sequence

ENSEMBL: ENSMUSP00000137754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034270] [ENSMUST00000046386] [ENSMUST00000127664] [ENSMUST00000181521] [ENSMUST00000181826] [ENSMUST00000181948]

AlphaFold

Q9CQV6

Predicted Effect

probably damaging
Transcript: ENSMUST00000034270
AA Change: L47Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034270
Gene: ENSMUSG00000031812
AA Change: L47Q

Domain	Start	End	E-Value	Type
Pfam:Atg8	15	120	5.8e-47	PFAM
Pfam:APG12	33	120	8.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000046386

SMART Domains

Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410

Domain	Start	End	E-Value	Type
low complexity region	30	41	N/A	INTRINSIC
low complexity region	129	145	N/A	INTRINSIC
low complexity region	206	225	N/A	INTRINSIC
low complexity region	246	265	N/A	INTRINSIC
Blast:SAM	299	349	2e-25	BLAST
SCOP:d1kw4a_	307	358	1e-6	SMART
low complexity region	422	432	N/A	INTRINSIC
low complexity region	438	454	N/A	INTRINSIC
low complexity region	532	543	N/A	INTRINSIC
low complexity region	709	790	N/A	INTRINSIC
low complexity region	791	808	N/A	INTRINSIC
ZnF_C2HC	914	930	3.44e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154725

SMART Domains

Protein: ENSMUSP00000120570
Gene: ENSMUSG00000061410

Domain	Start	End	E-Value	Type
low complexity region	7	88	N/A	INTRINSIC
low complexity region	89	106	N/A	INTRINSIC
ZnF_C2HC	212	228	3.44e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180548

Predicted Effect

probably benign
Transcript: ENSMUST00000181521

SMART Domains

Protein: ENSMUSP00000137996
Gene: ENSMUSG00000031812

Domain	Start	End	E-Value	Type
Pfam:Atg8	1	61	2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181826

Predicted Effect

probably damaging
Transcript: ENSMUST00000181948
AA Change: L82Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137754
Gene: ENSMUSG00000031812
AA Change: L82Q

Domain	Start	End	E-Value	Type
Pfam:Atg8	60	155	2.6e-38	PFAM
Pfam:APG12	68	155	2.8e-9	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a subunit of neuronal microtubule-associated MAP1A and MAP1B proteins, which are involved in microtubule assembly and important for neurogenesis. Studies on the rat homolog implicate a role for this gene in autophagy, a process that involves the bulk degradation of cytoplasmic component. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele develop, breed and behave normally and display a normal life span. In culture, mutant MEFs maintain wild-type levels of fibronectin (FN) protein despite reduced FN synthesis, and show normal induction of autophagosomes under starvation conditions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,654,619 (GRCm39)	Y151C	probably damaging	Het
Aco1	G	A	4: 40,180,199 (GRCm39)	V367M	possibly damaging	Het
Acsm5	G	A	7: 119,134,041 (GRCm39)	W274*	probably null	Het
Ago1	G	A	4: 126,347,433 (GRCm39)	Q135*	probably null	Het
Bmpr1b	A	T	3: 141,562,314 (GRCm39)	L291Q	probably damaging	Het
Cdcp1	A	G	9: 123,002,879 (GRCm39)	Y731H	probably damaging	Het
Clrn2	A	G	5: 45,617,495 (GRCm39)	N122S	probably damaging	Het
Col4a3	G	T	1: 82,656,833 (GRCm39)	G751W	unknown	Het
Ctsc	C	T	7: 87,957,347 (GRCm39)	A294V	probably damaging	Het
Cyp26a1	T	C	19: 37,688,426 (GRCm39)	L316P	probably damaging	Het
Dennd6b	A	T	15: 89,075,125 (GRCm39)		probably benign	Het
Dnah10	T	A	5: 124,850,809 (GRCm39)	Y1659*	probably null	Het
Dspp	A	C	5: 104,325,116 (GRCm39)	D493A	unknown	Het
Dyrk1a	C	T	16: 94,486,102 (GRCm39)	A445V	probably benign	Het
E030025P04Rik	C	A	11: 109,030,324 (GRCm39)		probably benign	Het
Ecpas	A	G	4: 58,872,699 (GRCm39)	S201P	possibly damaging	Het
Foxd4	T	C	19: 24,876,973 (GRCm39)	H409R	probably damaging	Het
Fubp3	A	G	2: 31,485,343 (GRCm39)		probably benign	Het
Herc1	A	G	9: 66,404,962 (GRCm39)	K4511E	probably damaging	Het
Ifna1	A	G	4: 88,768,523 (GRCm39)	D67G	probably benign	Het
Mcc	A	T	18: 44,578,877 (GRCm39)	S844T	possibly damaging	Het
Mccc1	A	T	3: 36,044,888 (GRCm39)	*85K	probably null	Het
Memo1	G	A	17: 74,552,027 (GRCm39)	L90F	probably damaging	Het
Mfrp	A	G	9: 44,014,561 (GRCm39)	H236R	probably benign	Het
Mmrn1	G	A	6: 60,950,030 (GRCm39)	D327N	probably damaging	Het
Mycbp2	T	C	14: 103,392,697 (GRCm39)	E3178G	probably damaging	Het
Pcsk9	A	G	4: 106,304,886 (GRCm39)		probably benign	Het
Pros1	T	C	16: 62,719,308 (GRCm39)	L110P	probably damaging	Het
Reck	A	G	4: 43,913,791 (GRCm39)	Y215C	probably damaging	Het
Ripk4	T	C	16: 97,544,766 (GRCm39)	D627G	probably damaging	Het
Rnf144a	G	T	12: 26,371,009 (GRCm39)	H151N	probably damaging	Het
Slc39a9	T	A	12: 80,713,421 (GRCm39)	H106Q	probably damaging	Het
Stab2	A	G	10: 86,682,029 (GRCm39)		probably benign	Het
Sympk	T	G	7: 18,781,463 (GRCm39)	H806Q	probably benign	Het
Tars2	C	A	3: 95,649,383 (GRCm39)		probably benign	Het
Thap3	T	A	4: 152,070,169 (GRCm39)	H75L	probably damaging	Het
Trappc8	T	C	18: 20,970,235 (GRCm39)	I918M	possibly damaging	Het
Ube2j2	T	C	4: 156,041,788 (GRCm39)	V249A	probably damaging	Het
Ubqln3	T	G	7: 103,790,543 (GRCm39)	T516P	probably benign	Het
Unc13c	A	G	9: 73,466,238 (GRCm39)	S1810P	probably benign	Het
Vmn1r4	T	A	6: 56,933,524 (GRCm39)	Y9*	probably null	Het
Vmn1r89	T	A	7: 12,954,131 (GRCm39)	M221K	probably damaging	Het
Vmn2r1	G	T	3: 64,012,355 (GRCm39)	V739F	probably benign	Het
Vmn2r25	C	T	6: 123,816,723 (GRCm39)	R286Q	possibly damaging	Het
Vmn2r91	T	A	17: 18,325,711 (GRCm39)	Y110N	possibly damaging	Het
Zbtb48	T	C	4: 152,105,851 (GRCm39)	H418R	probably damaging	Het

Other mutations in Map1lc3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
apollo	UTSW	8	122,323,459 (GRCm39)	missense	probably benign	0.38
R0201:Map1lc3b	UTSW	8	122,317,289 (GRCm39)	missense	possibly damaging	0.78
R1395:Map1lc3b	UTSW	8	122,323,459 (GRCm39)	missense	probably benign	0.38
R1496:Map1lc3b	UTSW	8	122,323,339 (GRCm39)	missense	possibly damaging	0.47
R1769:Map1lc3b	UTSW	8	122,320,226 (GRCm39)	splice site	probably benign
R2571:Map1lc3b	UTSW	8	122,320,213 (GRCm39)	splice site	probably null
R6272:Map1lc3b	UTSW	8	122,323,429 (GRCm39)	missense	probably benign	0.31
R6788:Map1lc3b	UTSW	8	122,320,316 (GRCm39)	missense	probably benign
R7406:Map1lc3b	UTSW	8	122,317,355 (GRCm39)	missense	unknown
R7603:Map1lc3b	UTSW	8	122,320,268 (GRCm39)	missense	possibly damaging	0.91
R9249:Map1lc3b	UTSW	8	122,322,833 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16