Mutagenetix > Incidental Mutation

Incidental Mutation 'R8975:Map1lc3a'

683358

Institutional Source

Beutler Lab

Gene Symbol

Map1lc3a

Ensembl Gene

ENSMUSG00000027602

Gene Name

microtubule-associated protein 1 light chain 3 alpha

Synonyms

1010001H21Rik, LC3a, 4922501H04Rik, LC3

MMRRC Submission

068809-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R8975 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155118284-155119993 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155118926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 30 (K30R)

Ref Sequence

ENSEMBL: ENSMUSP00000029128 (fasta)

Gene Model

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

AlphaFold

Q91VR7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029128
AA Change: K30R

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029128
Gene: ENSMUSG00000027602
AA Change: K30R

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

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

Meta Mutation Damage Score

0.1031

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,980,192 (GRCm39)	D47G	probably damaging	Het
4930550C14Rik	A	T	9: 53,334,258 (GRCm39)	K167M	possibly damaging	Het
Abhd16b	A	G	2: 181,135,806 (GRCm39)	N236S	probably benign	Het
Ahnak	T	G	19: 8,990,101 (GRCm39)	V3795G	probably damaging	Het
Atg2b	A	T	12: 105,602,725 (GRCm39)	M1606K	probably damaging	Het
Bmt2	A	T	6: 13,630,611 (GRCm39)	I187K	probably damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cep290	A	G	10: 100,349,782 (GRCm39)	N610D	possibly damaging	Het
Ctps1	C	T	4: 120,406,743 (GRCm39)	D338N	probably benign	Het
Ctsz	A	T	2: 174,275,421 (GRCm39)	I118N	probably benign	Het
Depdc1b	A	G	13: 108,525,094 (GRCm39)	E483G	probably null	Het
Dhh	T	C	15: 98,795,976 (GRCm39)	S60G	probably damaging	Het
Dpagt1	T	C	9: 44,237,446 (GRCm39)		probably benign	Het
Dpy19l1	T	C	9: 24,359,102 (GRCm39)	K162R	probably damaging	Het
Dynap	T	C	18: 70,375,093 (GRCm39)	T41A	possibly damaging	Het
Dyrk4	T	C	6: 126,871,783 (GRCm39)	N162D	probably benign	Het
Efcab3	A	G	11: 104,954,415 (GRCm39)	K5090E	probably benign	Het
Eml5	T	A	12: 98,776,829 (GRCm39)	T1429S	probably damaging	Het
Fbn2	C	T	18: 58,286,928 (GRCm39)	G244R	probably damaging	Het
Fer1l5	A	G	1: 36,456,897 (GRCm39)	D1625G	probably benign	Het
Frmd4b	G	A	6: 97,283,477 (GRCm39)	T484M	possibly damaging	Het
Hhat	T	C	1: 192,431,250 (GRCm39)	E33G	probably damaging	Het
Ifngr1	A	G	10: 19,485,360 (GRCm39)	D453G	probably damaging	Het
Itpr3	T	A	17: 27,335,628 (GRCm39)	I2246N	possibly damaging	Het
Larp4b	T	G	13: 9,195,537 (GRCm39)	I212S	probably damaging	Het
Lilra5	T	C	7: 4,241,636 (GRCm39)	V145A	probably benign	Het
Mapk8ip1	A	G	2: 92,215,166 (GRCm39)	Y652H	probably damaging	Het
Med23	A	G	10: 24,780,334 (GRCm39)	E994G	probably benign	Het
Mep1b	A	T	18: 21,208,714 (GRCm39)	D30V	probably benign	Het
Mki67	C	A	7: 135,297,364 (GRCm39)	A2557S	possibly damaging	Het
Mki67	T	C	7: 135,300,129 (GRCm39)	D1635G	probably benign	Het
Msantd5f6	A	G	4: 73,320,167 (GRCm39)	L204P	probably damaging	Het
Mup3	A	T	4: 62,003,472 (GRCm39)	D132E	probably benign	Het
Myo15b	A	T	11: 115,781,780 (GRCm39)	T2830S	unknown	Het
Myocd	T	A	11: 65,069,287 (GRCm39)	H979L	probably damaging	Het
Nvl	A	T	1: 180,958,001 (GRCm39)	N260K	probably benign	Het
Or2a57	T	A	6: 43,213,056 (GRCm39)	H171Q	probably benign	Het
Or2d2b	T	A	7: 106,705,664 (GRCm39)	T135S	probably benign	Het
Or4d2	T	A	11: 87,784,645 (GRCm39)	Y35F	probably damaging	Het
Pdha2	C	A	3: 140,917,649 (GRCm39)		probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phtf2	A	C	5: 20,969,249 (GRCm39)	V687G	probably damaging	Het
Plagl2	C	T	2: 153,074,346 (GRCm39)	G185D	possibly damaging	Het
Ppp1r3e	A	G	14: 55,113,946 (GRCm39)	V242A	probably benign	Het
Proser3	A	G	7: 30,239,458 (GRCm39)	S549P	possibly damaging	Het
Prrc2c	A	G	1: 162,533,630 (GRCm39)	V995A	unknown	Het
Ptpn13	A	G	5: 103,649,266 (GRCm39)	H223R	probably benign	Het
Rsf1	CG	CGTCGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Scn11a	T	C	9: 119,587,565 (GRCm39)	E1393G	probably damaging	Het
Sipa1l1	T	A	12: 82,479,612 (GRCm39)	S1432T	possibly damaging	Het
Slc10a5	G	C	3: 10,399,670 (GRCm39)	A330G	probably benign	Het
Slc2a5	A	C	4: 150,224,270 (GRCm39)	N293H	probably damaging	Het
Spmap1	A	T	11: 97,663,572 (GRCm39)	Y93N	probably damaging	Het
Spmip4	C	T	6: 50,561,391 (GRCm39)	R176H	probably damaging	Het
Sptbn1	T	C	11: 30,073,869 (GRCm39)	E1400G	possibly damaging	Het
Stk33	T	A	7: 108,935,280 (GRCm39)	I171F	probably damaging	Het
Syne1	G	A	10: 5,161,945 (GRCm39)	H5450Y	probably benign	Het
Tbcd	G	C	11: 121,387,679 (GRCm39)		probably benign	Het
Tkt	T	A	14: 30,288,884 (GRCm39)		probably benign	Het
Tpra1	A	T	6: 88,888,726 (GRCm39)	M303L	probably benign	Het
Ubr3	T	C	2: 69,752,651 (GRCm39)	S303P	probably damaging	Het
Uqcrc1	T	C	9: 108,776,721 (GRCm39)	F341S	probably damaging	Het
Vmn1r223	T	C	13: 23,434,248 (GRCm39)	S281P	possibly damaging	Het
Vmn1r32	C	A	6: 66,530,189 (GRCm39)	A196S	probably benign	Het
Zfp644	G	T	5: 106,785,467 (GRCm39)	T360N	probably benign	Het

Other mutations in Map1lc3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03156:Map1lc3a	APN	2	155,118,929 (GRCm39)	missense	probably damaging	1.00
intricate	UTSW	2	155,119,129 (GRCm39)	unclassified	probably benign
R0734:Map1lc3a	UTSW	2	155,118,896 (GRCm39)	missense	possibly damaging	0.54
R4049:Map1lc3a	UTSW	2	155,119,462 (GRCm39)	missense	possibly damaging	0.94
R6213:Map1lc3a	UTSW	2	155,118,935 (GRCm39)	critical splice donor site	probably null
R8046:Map1lc3a	UTSW	2	155,119,129 (GRCm39)	unclassified	probably benign
X0027:Map1lc3a	UTSW	2	155,119,552 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGAATGTTGTGACCTGACGTC -3'
(R):5'- TGACCAACTCGCTCATGTTAAC -3'

Sequencing Primer
(F):5'- ACCGGCCTTTCAAGCAG -3'
(R):5'- TGTAGCGCTCGATGATCA -3'

Posted On

2021-10-11