Mutagenetix > Incidental Mutation

Incidental Mutation 'R6272:Map1lc3b'

507401

Institutional Source

Beutler Lab

Gene Symbol

Map1lc3b

Ensembl Gene

ENSMUSG00000031812

Gene Name

microtubule-associated protein 1 light chain 3 beta

Synonyms

Atg8, Map1lc3, 1010001C15Rik, LC3b

MMRRC Submission

044442-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6272 (G1)

Quality Score

169.009

Status

Validated

Chromosome

Chromosomal Location

122317177-122325499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122323429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 100 (E100K)

Ref Sequence

ENSEMBL: ENSMUSP00000034270 (fasta)

Gene Model

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

AlphaFold

Q9CQV6

Predicted Effect

probably benign
Transcript: ENSMUST00000034270
AA Change: E100K

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034270
Gene: ENSMUSG00000031812
AA Change: E100K

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
AA Change: E41K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000137996
Gene: ENSMUSG00000031812
AA Change: E41K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000181826

Predicted Effect

probably benign
Transcript: ENSMUST00000181948
AA Change: E135K

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000137754
Gene: ENSMUSG00000031812
AA Change: E135K

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

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.3%

Validation Efficiency

98% (55/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	T	5: 50,166,791 (GRCm39)	M187K	possibly damaging	Het
Adgrg3	A	G	8: 95,762,889 (GRCm39)	I189V	noncoding transcript	Het
Ampd1	A	G	3: 102,992,699 (GRCm39)	K147R	possibly damaging	Het
Apbb2	T	C	5: 66,468,415 (GRCm39)	T561A	probably damaging	Het
Arfgef3	A	T	10: 18,522,711 (GRCm39)	D438E	probably benign	Het
Atxn1	T	A	13: 45,721,238 (GRCm39)	Q219L	possibly damaging	Het
AW551984	A	T	9: 39,509,333 (GRCm39)	D269E	probably benign	Het
Cryab	A	G	9: 50,665,825 (GRCm39)	K72R	possibly damaging	Het
Dbn1	G	A	13: 55,622,917 (GRCm39)	A522V	probably benign	Het
Dip2a	A	T	10: 76,122,241 (GRCm39)	*158R	probably null	Het
Edrf1	C	T	7: 133,239,537 (GRCm39)		probably benign	Het
Ern2	A	T	7: 121,775,869 (GRCm39)	D408E	probably benign	Het
F830016B08Rik	T	C	18: 60,433,150 (GRCm39)	S78P	probably damaging	Het
Fah	C	A	7: 84,244,753 (GRCm39)	G137C	probably damaging	Het
Foxd3	A	G	4: 99,544,977 (GRCm39)	D39G	probably damaging	Het
Gprin3	G	A	6: 59,330,316 (GRCm39)	Q664*	probably null	Het
H2-Ob	T	C	17: 34,461,618 (GRCm39)	I119T	probably benign	Het
H3c6	A	T	13: 23,746,400 (GRCm39)	V47E	probably damaging	Het
Hmgcll1	G	A	9: 76,037,627 (GRCm39)	G174R	probably damaging	Het
Kbtbd11	T	A	8: 15,079,118 (GRCm39)	C572*	probably null	Het
Kynu	A	T	2: 43,525,001 (GRCm39)	N315Y	probably benign	Het
Matn2	T	A	15: 34,355,753 (GRCm39)	Q33L	possibly damaging	Het
Mettl8	T	C	2: 70,806,419 (GRCm39)		probably null	Het
Neto1	A	T	18: 86,512,940 (GRCm39)	N312Y	probably damaging	Het
Nhsl1	A	G	10: 18,400,253 (GRCm39)	D493G	probably benign	Het
Nup210l	A	G	3: 90,077,331 (GRCm39)	E889G	possibly damaging	Het
Or13l2	A	G	3: 97,318,207 (GRCm39)	F97L	probably benign	Het
Or14c42-ps1	A	G	7: 86,211,081 (GRCm39)	Y47C	unknown	Het
Or2y13	C	A	11: 49,414,953 (GRCm39)	S134R	possibly damaging	Het
Or5ac25	A	C	16: 59,181,948 (GRCm39)	M211R	possibly damaging	Het
Or5w20	G	A	2: 87,727,001 (GRCm39)	V153I	probably benign	Het
Or6k2	C	T	1: 173,986,741 (GRCm39)	T134I	probably benign	Het
Or8g4	A	T	9: 39,661,816 (GRCm39)	M45L	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Phc2	A	G	4: 128,603,440 (GRCm39)	Y190C	probably damaging	Het
Platr25	T	C	13: 62,820,811 (GRCm39)	T347A	possibly damaging	Het
Plec	T	C	15: 76,059,053 (GRCm39)	E3655G	probably damaging	Het
Plekhg3	A	T	12: 76,623,619 (GRCm39)	Q954L	probably benign	Het
Pnpla1	G	A	17: 29,100,342 (GRCm39)	G403E	probably benign	Het
Prdm4	G	A	10: 85,743,694 (GRCm39)	T187I	possibly damaging	Het
Prg4	T	C	1: 150,330,517 (GRCm39)		probably benign	Het
Prpf18	G	A	2: 4,638,258 (GRCm39)	R312W	probably damaging	Het
Rnf213	T	A	11: 119,305,374 (GRCm39)	V535D	probably damaging	Het
Rtcb	A	T	10: 85,791,638 (GRCm39)	N39K	probably damaging	Het
Slc4a3	G	A	1: 75,531,341 (GRCm39)		probably null	Het
Szt2	A	C	4: 118,231,487 (GRCm39)		probably benign	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tfap2e	A	T	4: 126,615,657 (GRCm39)	V259D	probably damaging	Het
Trav19	A	G	14: 54,083,255 (GRCm39)	D110G	probably damaging	Het
Ttc17	A	C	2: 94,189,100 (GRCm39)	C749W	probably damaging	Het
Ttc8	A	G	12: 98,948,753 (GRCm39)	K490E	possibly damaging	Het
Ube4b	A	G	4: 149,471,590 (GRCm39)	S99P	probably damaging	Het
Ubqln3	C	T	7: 103,791,385 (GRCm39)	R235H	probably damaging	Het
Vmn2r61	A	T	7: 41,949,242 (GRCm39)	D554V	probably damaging	Het
Vmn2r70	A	T	7: 85,208,194 (GRCm39)	V761E	probably damaging	Het
Vmn2r97	T	C	17: 19,167,861 (GRCm39)	I705T	possibly damaging	Het
Wwox	G	A	8: 115,215,692 (GRCm39)	C155Y	probably damaging	Het
Zfp451	T	C	1: 33,842,325 (GRCm39)		probably benign	Het
Zfp582	C	T	7: 6,356,844 (GRCm39)	P219L	probably damaging	Het

Other mutations in Map1lc3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02709:Map1lc3b	APN	8	122,322,768 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCAGACCCTGATCACAGC -3'
(R):5'- GCCTACGTTCTCATCTGTGG -3'

Sequencing Primer
(F):5'- AGCCATCACTGTGGGCTGTG -3'
(R):5'- CTCATCTGTGGGTGGTGAGCC -3'

Posted On

2018-03-15