Mutagenetix > Incidental Mutation

Incidental Mutation 'R3837:Lamtor1'

275697

Institutional Source

Beutler Lab

Gene Symbol

Lamtor1

Ensembl Gene

ENSMUSG00000030842

Gene Name

late endosomal/lysosomal adaptor, MAPK and MTOR activator 1

Synonyms

p18, 2400001E08Rik

MMRRC Submission

040778-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101555044-101561110 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 101559315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033131] [ENSMUST00000078448] [ENSMUST00000098236] [ENSMUST00000106963] [ENSMUST00000106964] [ENSMUST00000106965] [ENSMUST00000106966] [ENSMUST00000193465] [ENSMUST00000106967] [ENSMUST00000163903] [ENSMUST00000106970] [ENSMUST00000106968]

AlphaFold

Q9CQ22

Predicted Effect

probably null
Transcript: ENSMUST00000033131

SMART Domains

Protein: ENSMUSP00000033131
Gene: ENSMUSG00000030842

Domain	Start	End	E-Value	Type
LAMTOR	15	90	1.48e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000078448

SMART Domains

Protein: ENSMUSP00000077543
Gene: ENSMUSG00000064307

Domain	Start	End	E-Value	Type
Pfam:LRR_9	86	188	2.6e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098236

SMART Domains

Protein: ENSMUSP00000095838
Gene: ENSMUSG00000064307

Domain	Start	End	E-Value	Type
Pfam:LRR_8	79	139	1.5e-9	PFAM
Pfam:LRR_7	102	118	8.7e-2	PFAM
Pfam:LRR_7	127	141	1e-1	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106963

SMART Domains

Protein: ENSMUSP00000102576
Gene: ENSMUSG00000064307

Domain	Start	End	E-Value	Type
Pfam:LRR_8	79	139	1.5e-9	PFAM
Pfam:LRR_7	102	118	8.7e-2	PFAM
Pfam:LRR_7	127	141	1e-1	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106964

SMART Domains

Protein: ENSMUSP00000102577
Gene: ENSMUSG00000064307

Domain	Start	End	E-Value	Type
Pfam:LRR_8	79	139	1.5e-9	PFAM
Pfam:LRR_7	102	118	8.7e-2	PFAM
Pfam:LRR_7	127	141	1e-1	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106965

SMART Domains

Protein: ENSMUSP00000102578
Gene: ENSMUSG00000064307

Domain	Start	End	E-Value	Type
Pfam:LRR_8	79	139	6.5e-10	PFAM
Pfam:LRR_7	102	118	3.3e-2	PFAM
Pfam:LRR_7	127	142	3.7e-2	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106966

SMART Domains

Protein: ENSMUSP00000102579
Gene: ENSMUSG00000064307

Domain	Start	End	E-Value	Type
Pfam:LRR_8	79	139	2.1e-9	PFAM
Pfam:LRR_9	84	187	3e-11	PFAM
Pfam:LRR_7	102	118	1e-1	PFAM
Pfam:LRR_7	127	143	1.1e-1	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000193465

SMART Domains

Protein: ENSMUSP00000141774
Gene: ENSMUSG00000030842

Domain	Start	End	E-Value	Type
LAMTOR	15	90	1.1e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211180

Predicted Effect

probably benign
Transcript: ENSMUST00000106967

SMART Domains

Protein: ENSMUSP00000102580
Gene: ENSMUSG00000064307

Domain	Start	End	E-Value	Type
Pfam:LRR_9	40	155	7.2e-12	PFAM
Pfam:LRR_8	46	106	5.2e-10	PFAM
Pfam:LRR_7	69	85	2.9e-2	PFAM
Pfam:LRR_7	94	110	3.1e-2	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163903

SMART Domains

Protein: ENSMUSP00000129333
Gene: ENSMUSG00000064307

Domain	Start	End	E-Value	Type
Pfam:LRR_8	79	139	1.5e-9	PFAM
Pfam:LRR_7	102	118	8.7e-2	PFAM
Pfam:LRR_7	127	141	1e-1	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106970

SMART Domains

Protein: ENSMUSP00000102583
Gene: ENSMUSG00000078630

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_3	65	223	9.1e-19	PFAM
Pfam:Methyltransf_24	103	212	4.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106968

SMART Domains

Protein: ENSMUSP00000102581
Gene: ENSMUSG00000064307

Domain	Start	End	E-Value	Type
Pfam:LRR_8	79	139	2.1e-9	PFAM
Pfam:LRR_9	84	187	3e-11	PFAM
Pfam:LRR_7	102	118	1e-1	PFAM
Pfam:LRR_7	127	143	1.1e-1	PFAM

Meta Mutation Damage Score

0.9595

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (52/53)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth arrest and lethality at E7 and abnormal visceral endoderm with abnormal endosome-like organelles and small lysosomes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028I16Rik	A	G	10: 82,648,219 (GRCm39)		noncoding transcript	Het
4930474N05Rik	G	A	14: 35,817,435 (GRCm39)	G112S	probably benign	Het
Adam24	T	C	8: 41,133,584 (GRCm39)	S351P	probably benign	Het
Amigo2	T	C	15: 97,143,196 (GRCm39)	I409V	probably damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
Atg10	A	T	13: 91,085,499 (GRCm39)	I150K	probably damaging	Het
AW551984	T	C	9: 39,509,204 (GRCm39)		probably benign	Het
Cdc20b	T	C	13: 113,220,542 (GRCm39)	W432R	probably damaging	Het
Cdh9	G	T	15: 16,823,524 (GRCm39)	E169*	probably null	Het
Col28a1	C	T	6: 8,014,601 (GRCm39)	V935M	possibly damaging	Het
Col6a3	T	C	1: 90,707,803 (GRCm39)	N1948D	unknown	Het
Dnajb2	G	A	1: 75,218,124 (GRCm39)		probably null	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Fn1	A	T	1: 71,692,314 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,228,608 (GRCm39)	T1708A	probably benign	Het
Gcnt4	A	T	13: 97,083,522 (GRCm39)	R273*	probably null	Het
Gldc	T	A	19: 30,096,075 (GRCm39)		probably benign	Het
Glra2	C	T	X: 164,072,612 (GRCm39)	V85I	probably benign	Het
Gm11562	A	G	11: 99,511,026 (GRCm39)	I58T	possibly damaging	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn2	T	C	2: 31,303,419 (GRCm39)	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,795,597 (GRCm39)	I324T	probably benign	Het
Itih1	T	A	14: 30,657,785 (GRCm39)	N429Y	probably damaging	Het
Lrrd1	A	T	5: 3,900,204 (GRCm39)	I170L	possibly damaging	Het
Magi2	G	A	5: 20,420,466 (GRCm39)	D301N	probably benign	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Mmrn1	G	A	6: 60,921,831 (GRCm39)	S96N	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msh3	C	A	13: 92,491,366 (GRCm39)	G15C	probably damaging	Het
Myl12b	C	A	17: 71,281,480 (GRCm39)	E120*	probably null	Het
Myo3a	T	G	2: 22,455,121 (GRCm39)		probably benign	Het
Nagk	A	T	6: 83,778,139 (GRCm39)	H245L	possibly damaging	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Nlrc5	A	G	8: 95,237,929 (GRCm39)		probably benign	Het
Ogfrl1	G	A	1: 23,409,041 (GRCm39)	T395I	probably benign	Het
Polr1b	T	A	2: 128,961,027 (GRCm39)	F662Y	possibly damaging	Het
Rrbp1	T	C	2: 143,831,478 (GRCm39)	K230E	probably damaging	Het
Shld2	A	G	14: 33,971,142 (GRCm39)	V581A	probably damaging	Het
Skap2	C	T	6: 51,886,279 (GRCm39)		probably null	Het
Skint5	A	T	4: 113,797,938 (GRCm39)	M215K	probably damaging	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Tdp1	A	G	12: 99,860,967 (GRCm39)		probably null	Het
Tlr3	G	A	8: 45,849,976 (GRCm39)	L898F	probably damaging	Het
Tmem210	A	G	2: 25,178,444 (GRCm39)	E35G	possibly damaging	Het
Tpbg	T	C	9: 85,725,167 (GRCm39)		probably benign	Het
Tubb2a	G	T	13: 34,259,294 (GRCm39)	N165K	probably benign	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn1r33	A	T	6: 66,588,701 (GRCm39)	D284E	possibly damaging	Het
Wnk1	T	C	6: 119,927,004 (GRCm39)	E1265G	probably damaging	Het
Yme1l1	A	T	2: 23,081,092 (GRCm39)	T455S	possibly damaging	Het
Zfp111	T	C	7: 23,898,891 (GRCm39)	N241S	possibly damaging	Het

Other mutations in Lamtor1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3806:Lamtor1	UTSW	7	101,560,552 (GRCm39)	missense	probably damaging	1.00
R4944:Lamtor1	UTSW	7	101,558,971 (GRCm39)	missense	probably damaging	1.00
R5808:Lamtor1	UTSW	7	101,559,289 (GRCm39)	missense	possibly damaging	0.60
R7162:Lamtor1	UTSW	7	101,555,243 (GRCm39)	missense	probably benign	0.08
R7806:Lamtor1	UTSW	7	101,555,220 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATTAGGGAGCGATGTCACTG -3'
(R):5'- TTGACCTGATCACCCTGGATC -3'

Sequencing Primer
(F):5'- CTGAGTACTAGTGTCAGAAGGCC -3'
(R):5'- CTGGATCAAACACATTGGGC -3'

Posted On

2015-04-06