Mutagenetix > Incidental Mutation

Incidental Mutation 'R1405:Larp6'

160529

Institutional Source

Beutler Lab

Gene Symbol

Larp6

Ensembl Gene

ENSMUSG00000034839

Gene Name

La ribonucleoprotein 6, translational regulator

Synonyms

acheron, 5430431G03Rik, Achn

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1405 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60620404-60646084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 60644849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 330 (M330L)

Ref Sequence

ENSEMBL: ENSMUSP00000040309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038407]

AlphaFold

Q8BN59

Predicted Effect

probably benign
Transcript: ENSMUST00000038407
AA Change: M330L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040309
Gene: ENSMUSG00000034839
AA Change: M330L

Domain	Start	End	E-Value	Type
low complexity region	24	36	N/A	INTRINSIC
LA	90	170	2.44e-40	SMART
Blast:RRM	209	276	6e-9	BLAST
SCOP:d1urna_	210	288	1e-3	SMART
low complexity region	294	304	N/A	INTRINSIC
low complexity region	332	346	N/A	INTRINSIC
low complexity region	420	430	N/A	INTRINSIC
Pfam:SUZ-C	453	483	1.6e-10	PFAM

Coding Region Coverage

1x: 99.0%
3x: 96.7%
10x: 83.5%
20x: 53.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	G	A	7: 101,047,643 (GRCm39)		probably null	Het
Asb8	G	A	15: 98,039,248 (GRCm39)	H51Y	possibly damaging	Het
Capn10	T	G	1: 92,872,744 (GRCm39)	V490G	probably benign	Het
Ccdc146	G	A	5: 21,604,730 (GRCm39)	S36L	probably benign	Het
Celsr1	C	T	15: 85,789,635 (GRCm39)		probably null	Het
Clvs2	C	A	10: 33,389,256 (GRCm39)	*328L	probably null	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dstn	A	G	2: 143,780,356 (GRCm39)	K19E	probably damaging	Het
Ehmt2	T	A	17: 35,125,553 (GRCm39)	H134Q	probably benign	Het
Faah	G	A	4: 115,858,345 (GRCm39)	P411S	probably damaging	Het
Fn1	A	G	1: 71,681,237 (GRCm39)	F364L	probably damaging	Het
Gmnc	A	T	16: 26,779,196 (GRCm39)	N270K	possibly damaging	Het
Grip2	A	T	6: 91,765,133 (GRCm39)		probably null	Het
Hmg20a	A	T	9: 56,384,587 (GRCm39)	Q119L	possibly damaging	Het
Ipo7	T	C	7: 109,629,048 (GRCm39)	I106T	probably benign	Het
Ipo7	C	T	7: 109,638,456 (GRCm39)	P241L	probably damaging	Het
Katnb1	T	C	8: 95,824,801 (GRCm39)	Y574H	probably damaging	Het
Lrrc8e	T	C	8: 4,281,754 (GRCm39)	Y30H	probably damaging	Het
Nop56	T	C	2: 130,119,868 (GRCm39)	V420A	probably benign	Het
Nrg1	T	C	8: 32,407,855 (GRCm39)	D126G	probably benign	Het
Prdm1	T	A	10: 44,315,961 (GRCm39)	N725I	probably damaging	Het
Prl3a1	A	G	13: 27,459,051 (GRCm39)		probably null	Het
Psmd2	T	C	16: 20,471,034 (GRCm39)	L59P	possibly damaging	Het
Ptgdr2	T	C	19: 10,918,395 (GRCm39)	V304A	probably benign	Het
Rasa3	A	G	8: 13,638,027 (GRCm39)	V339A	possibly damaging	Het
Sec24c	G	A	14: 20,742,593 (GRCm39)		probably null	Het
Serpinb9e	A	G	13: 33,444,009 (GRCm39)	D343G	probably benign	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Stab1	A	C	14: 30,870,958 (GRCm39)	V1297G	probably benign	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Tmprss2	G	A	16: 97,398,005 (GRCm39)	T57I	probably benign	Het
Tnrc6a	A	G	7: 122,770,301 (GRCm39)	D697G	probably damaging	Het
Vwa5b2	T	A	16: 20,423,066 (GRCm39)	D1021E	probably benign	Het
Wdr46	C	A	17: 34,168,057 (GRCm39)	P543Q	probably damaging	Het
Zfp1005	T	A	2: 150,109,620 (GRCm39)	Y103*	probably null	Het
Zfp287	T	A	11: 62,619,137 (GRCm39)	D119V	probably damaging	Het
Zxdc	A	G	6: 90,361,225 (GRCm39)	S737G	possibly damaging	Het

Other mutations in Larp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02165:Larp6	APN	9	60,620,595 (GRCm39)	missense	probably benign	0.08
R1405:Larp6	UTSW	9	60,644,849 (GRCm39)	missense	probably benign
R4463:Larp6	UTSW	9	60,644,279 (GRCm39)	missense	probably damaging	1.00
R4860:Larp6	UTSW	9	60,645,093 (GRCm39)	missense	probably damaging	0.99
R4860:Larp6	UTSW	9	60,645,093 (GRCm39)	missense	probably damaging	0.99
R4948:Larp6	UTSW	9	60,645,063 (GRCm39)	missense	possibly damaging	0.89
R5132:Larp6	UTSW	9	60,644,493 (GRCm39)	missense	probably damaging	1.00
R6285:Larp6	UTSW	9	60,645,043 (GRCm39)	missense	probably benign	0.28
R6370:Larp6	UTSW	9	60,644,646 (GRCm39)	missense	probably damaging	1.00
R7088:Larp6	UTSW	9	60,631,638 (GRCm39)	missense	probably damaging	1.00
R7243:Larp6	UTSW	9	60,620,569 (GRCm39)	missense	probably benign	0.00
R7535:Larp6	UTSW	9	60,631,437 (GRCm39)	missense	probably benign	0.10
R7998:Larp6	UTSW	9	60,631,638 (GRCm39)	missense	probably damaging	1.00
R8685:Larp6	UTSW	9	60,631,495 (GRCm39)	missense	probably damaging	0.97
R8877:Larp6	UTSW	9	60,644,850 (GRCm39)	missense	probably benign	0.01
R8884:Larp6	UTSW	9	60,620,682 (GRCm39)	missense
R8910:Larp6	UTSW	9	60,620,526 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GAAGGTGATGGAGCATCTGCTCAAG -3'
(R):5'- GGCTGGTGCTGAAGTTCAGTCTAC -3'

Sequencing Primer
(F):5'- CAAGAGTGCGCCATTGTG -3'
(R):5'- TTCTGGAGACACCCTTGCG -3'

Posted On

2014-03-14