Mutagenetix > Incidental Mutation

Incidental Mutation 'R6370:Larp6'

513483

Institutional Source

Beutler Lab

Gene Symbol

Larp6

Ensembl Gene

ENSMUSG00000034839

Gene Name

La ribonucleoprotein domain family, member 6

Synonyms

Achn, acheron, 5430431G03Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6370 (G1)

Quality Score

196.009

Status

Validated

Chromosome

Chromosomal Location

60712989-60738801 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60737363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 262 (E262G)

Ref Sequence

ENSEMBL: ENSMUSP00000040309 (fasta)

Gene Model

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

AlphaFold

Q8BN59

Predicted Effect

probably damaging
Transcript: ENSMUST00000038407
AA Change: E262G

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

SMART Domains

Protein: ENSMUSP00000040309
Gene: ENSMUSG00000034839
AA Change: E262G

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb6	A	G	2: 30,827,012	V67A	probably damaging	Het
Atic	T	A	1: 71,578,660	F590I	probably damaging	Het
Atxn10	T	C	15: 85,393,385	F351S	probably damaging	Het
Bcl2l13	A	G	6: 120,865,622	N92S	probably benign	Het
Carm1	G	T	9: 21,587,519	A518S	probably benign	Het
Ccar1	C	T	10: 62,764,529	R541H	probably damaging	Het
Cfhr2	A	T	1: 139,822,327	L96Q	probably damaging	Het
Chrnb4	A	G	9: 55,034,859	L377S	probably benign	Het
Clcn3	A	G	8: 60,923,024	Y639H	probably damaging	Het
Cngb1	C	T	8: 95,264,422	M717I	probably benign	Het
Ctcf	T	C	8: 105,664,220	M153T	probably benign	Het
Cyp2b19	T	C	7: 26,763,358	S222P	probably benign	Het
Dixdc1	A	T	9: 50,682,223		probably null	Het
Entpd2	G	A	2: 25,397,417	G47S	probably damaging	Het
Erbb3	A	G	10: 128,570,074	M1158T	possibly damaging	Het
Faah	T	C	4: 116,003,056	D333G	probably damaging	Het
Foxred2	T	A	15: 77,943,306	T618S	probably benign	Het
Gm2381	G	A	7: 42,820,586	A38V	probably benign	Het
Gpx5	A	T	13: 21,288,702		probably null	Het
Gtdc1	A	G	2: 44,756,322	V98A	probably damaging	Het
Hal	T	C	10: 93,497,506	I312T	probably damaging	Het
Krtap21-1	T	C	16: 89,403,631	Y41C	unknown	Het
Lrrn1	A	G	6: 107,569,224	Y661C	probably damaging	Het
Lsm14a	A	G	7: 34,357,481	V244A	probably benign	Het
Marc1	T	C	1: 184,795,492	D257G	probably damaging	Het
Mfrp	T	C	9: 44,106,261	C517R	probably damaging	Het
Ncoa3	T	C	2: 166,065,905	S1145P	probably benign	Het
Nosip	G	T	7: 45,076,740		probably null	Het
Olfr1186	T	A	2: 88,499,368	C94*	probably null	Het
Olfr568	A	T	7: 102,877,170	T17S	probably benign	Het
Olfr664	T	C	7: 104,733,917	K149R	probably benign	Het
Phykpl	T	C	11: 51,586,716	S112P	probably damaging	Het
Pik3cb	A	T	9: 99,040,934	I1015K	probably damaging	Het
Pomt2	A	G	12: 87,109,199	W818R	probably damaging	Het
Ptpn21	A	T	12: 98,689,034	M558K	possibly damaging	Het
Rnf213	T	A	11: 119,477,078	N4647K	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Homo
Rxrg	T	C	1: 167,634,437	V227A	probably damaging	Het
Satb1	A	T	17: 51,782,797	S341T	possibly damaging	Het
Skint5	T	G	4: 113,614,110	Q983P	unknown	Het
Slc6a18	G	A	13: 73,668,159	T367I	probably benign	Het
Slc7a1	A	G	5: 148,340,673	L344P	probably damaging	Het
Slc7a6	T	A	8: 106,195,437	F399I	probably benign	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Sugt1	T	C	14: 79,610,334	V208A	probably benign	Het
Syt3	A	G	7: 44,395,683	K480E	probably damaging	Het
Thop1	C	T	10: 81,077,983	T186I	probably benign	Het
Trim55	G	A	3: 19,691,486	E509K	possibly damaging	Het
Upf2	A	G	2: 5,976,010	N469S	unknown	Het
Usp24	G	T	4: 106,380,521	K1125N	probably null	Het
Usp5	A	T	6: 124,820,428	D494E	probably benign	Het
Vmn2r51	T	C	7: 10,098,216	K481R	probably damaging	Het
Vps16	C	A	2: 130,443,384	A787D	probably damaging	Het
Washc4	C	T	10: 83,571,362	H488Y	possibly damaging	Het
Wdfy4	C	A	14: 33,068,850	A2053S	probably benign	Het
Zfp74	A	T	7: 29,932,410	D136E	probably damaging	Het

Other mutations in Larp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02165:Larp6	APN	9	60713312	missense	probably benign	0.08
R1405:Larp6	UTSW	9	60737566	missense	probably benign
R1405:Larp6	UTSW	9	60737566	missense	probably benign
R4463:Larp6	UTSW	9	60736996	missense	probably damaging	1.00
R4860:Larp6	UTSW	9	60737810	missense	probably damaging	0.99
R4860:Larp6	UTSW	9	60737810	missense	probably damaging	0.99
R4948:Larp6	UTSW	9	60737780	missense	possibly damaging	0.89
R5132:Larp6	UTSW	9	60737210	missense	probably damaging	1.00
R6285:Larp6	UTSW	9	60737760	missense	probably benign	0.28
R7088:Larp6	UTSW	9	60724355	missense	probably damaging	1.00
R7243:Larp6	UTSW	9	60713286	missense	probably benign	0.00
R7535:Larp6	UTSW	9	60724154	missense	probably benign	0.10
R7998:Larp6	UTSW	9	60724355	missense	probably damaging	1.00
R8685:Larp6	UTSW	9	60724212	missense	probably damaging	0.97
R8877:Larp6	UTSW	9	60737567	missense	probably benign	0.01
R8884:Larp6	UTSW	9	60713399	missense
R8910:Larp6	UTSW	9	60713243	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TGACCTACACCTGTCCCCTAAG -3'
(R):5'- TGTTGGCGGAAGACTCATCC -3'

Sequencing Primer
(F):5'- TGTCCCCTAAGCTCTGGG -3'
(R):5'- GGAAGACTCATCCCCCATGTACTG -3'

Posted On

2018-04-27