Mutagenetix > Incidental Mutation

Incidental Mutation 'R8685:Larp6'

661991

Institutional Source

Beutler Lab

Gene Symbol

Larp6

Ensembl Gene

ENSMUSG00000034839

Gene Name

La ribonucleoprotein 6, translational regulator

Synonyms

acheron, 5430431G03Rik, Achn

MMRRC Submission

068540-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8685 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60620404-60646084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60631495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 89 (D89V)

Ref Sequence

ENSEMBL: ENSMUSP00000040309 (fasta)

Gene Model

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

AlphaFold

Q8BN59

Predicted Effect

probably damaging
Transcript: ENSMUST00000038407
AA Change: D89V

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040309
Gene: ENSMUSG00000034839
AA Change: D89V

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

Meta Mutation Damage Score

0.3760

Coding Region Coverage

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

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,862,140 (GRCm39)	Y50C	probably damaging	Het
Adgrl3	G	T	5: 81,874,708 (GRCm39)	D1002Y	possibly damaging	Het
Aoc3	G	A	11: 101,223,042 (GRCm39)	R426H	probably benign	Het
Atf6b	A	G	17: 34,869,320 (GRCm39)	H179R	probably benign	Het
Bbs4	T	C	9: 59,247,138 (GRCm39)	T121A	probably benign	Het
Brca1	T	C	11: 101,380,672 (GRCm39)	Y1787C	probably benign	Het
Cbx2	T	A	11: 118,918,746 (GRCm39)	S104T	possibly damaging	Het
Cdh10	T	A	15: 18,899,851 (GRCm39)	N59K	possibly damaging	Het
Clstn3	C	T	6: 124,433,867 (GRCm39)	R431H	probably damaging	Het
Cylc2	C	T	4: 51,229,651 (GRCm39)	T331M	unknown	Het
Dcpp3	T	C	17: 24,138,096 (GRCm39)	S85P	probably benign	Het
Dip2c	A	G	13: 9,687,161 (GRCm39)	T1262A	probably benign	Het
Dlgap2	A	G	8: 14,881,628 (GRCm39)	E900G	possibly damaging	Het
Dtx4	C	T	19: 12,446,995 (GRCm39)	D566N	probably benign	Het
Elmo1	T	A	13: 20,474,594 (GRCm39)	N339K	possibly damaging	Het
Gm11596	C	A	11: 99,683,816 (GRCm39)	R101S	unknown	Het
Hk1	T	C	10: 62,132,453 (GRCm39)		probably benign	Het
Hrnr	T	A	3: 93,230,205 (GRCm39)	S148T	unknown	Het
Hyls1	A	G	9: 35,472,724 (GRCm39)	Y231H	probably damaging	Het
Il17rb	T	A	14: 29,726,297 (GRCm39)	Y97F	probably benign	Het
Lamc1	G	T	1: 153,109,288 (GRCm39)	T1168K	probably benign	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Myo18a	A	G	11: 77,745,520 (GRCm39)	T1953A	probably benign	Het
Myo5c	A	G	9: 75,192,229 (GRCm39)	D1127G	possibly damaging	Het
Myo7a	T	C	7: 97,746,334 (GRCm39)	D266G	probably benign	Het
Naa35	T	A	13: 59,734,036 (GRCm39)	M22K	probably benign	Het
Niban2	T	G	2: 32,809,101 (GRCm39)	L229R	probably benign	Het
Or1f19	A	T	16: 3,410,904 (GRCm39)	I215F	probably damaging	Het
Pcdha8	T	A	18: 37,127,003 (GRCm39)	V495E	probably damaging	Het
Per2	T	G	1: 91,378,402 (GRCm39)	D49A	possibly damaging	Het
Plau	G	A	14: 20,889,627 (GRCm39)		probably benign	Het
Plekhg6	T	A	6: 125,352,755 (GRCm39)	I131L	possibly damaging	Het
Pnma8b	T	A	7: 16,679,965 (GRCm39)	D316E	unknown	Het
Ppp4r3b	T	C	11: 29,159,436 (GRCm39)	Y597H	possibly damaging	Het
Psmd2	T	C	16: 20,474,161 (GRCm39)	V288A	probably benign	Het
Slc6a15	T	C	10: 103,245,556 (GRCm39)	V513A	possibly damaging	Het
Smarcd3	G	A	5: 24,800,988 (GRCm39)	R140W	probably damaging	Het
Srrm4	T	C	5: 116,585,380 (GRCm39)	R440G	unknown	Het
Tpsg1	A	T	17: 25,592,241 (GRCm39)	Y105F	possibly damaging	Het
Trbv26	C	A	6: 41,204,693 (GRCm39)	A38E	probably damaging	Het
Ush2a	T	A	1: 188,198,401 (GRCm39)	N1488K	probably damaging	Het
Vill	A	T	9: 118,895,795 (GRCm39)	R502S	probably benign	Het
Zbed6	A	T	1: 133,584,754 (GRCm39)	L861*	probably null	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
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
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'- AAGGATCTGCCAGGCTTGTC -3'
(R):5'- AAATTTGCTAGGCAGGCAGC -3'

Sequencing Primer
(F):5'- TGACATCCATCGTGAGTGAC -3'
(R):5'- GGTTCTCGTCCGAAAAGT -3'

Posted On

2021-03-08