Mutagenetix > Incidental Mutation

Incidental Mutation 'R5132:Larp6'

395877

Institutional Source

Beutler Lab

Gene Symbol

Larp6

Ensembl Gene

ENSMUSG00000034839

Gene Name

La ribonucleoprotein 6, translational regulator

Synonyms

acheron, 5430431G03Rik, Achn

MMRRC Submission

042720-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5132 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60620404-60646084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60644493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 211 (E211G)

Ref Sequence

ENSEMBL: ENSMUSP00000040309 (fasta)

Gene Model

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

AlphaFold

Q8BN59

Predicted Effect

probably damaging
Transcript: ENSMUST00000038407
AA Change: E211G

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

SMART Domains

Protein: ENSMUSP00000040309
Gene: ENSMUSG00000034839
AA Change: E211G

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

0.1643

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	A	T	1: 156,469,402 (GRCm39)	K785*	probably null	Het
Acad11	A	T	9: 104,003,791 (GRCm39)	I628L	probably benign	Het
Ago1	T	C	4: 126,355,516 (GRCm39)	I98V	probably benign	Het
Bach2	A	G	4: 32,563,396 (GRCm39)		probably benign	Het
Calr3	C	T	8: 73,185,212 (GRCm39)		probably null	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdc42ep3	C	T	17: 79,642,803 (GRCm39)	R39H	probably damaging	Het
Cyp2j5	T	C	4: 96,517,733 (GRCm39)	Y493C	probably damaging	Het
Ddx19b	A	T	8: 111,749,040 (GRCm39)	D66E	probably benign	Het
Drosha	A	G	15: 12,837,377 (GRCm39)	D287G	unknown	Het
Gm8888	A	G	15: 96,664,892 (GRCm39)		noncoding transcript	Het
Gpr25	G	T	1: 136,188,103 (GRCm39)	A170E	probably damaging	Het
Gria1	A	G	11: 57,180,225 (GRCm39)	Y656C	probably damaging	Het
Grik5	C	T	7: 24,764,629 (GRCm39)	V145I	probably benign	Het
Htt	T	C	5: 35,063,023 (GRCm39)	V2885A	possibly damaging	Het
Magi1	C	A	6: 93,660,072 (GRCm39)		probably null	Het
Mtbp	A	G	15: 55,421,965 (GRCm39)	S63G	possibly damaging	Het
Ndor1	A	T	2: 25,137,781 (GRCm39)	S513T	probably benign	Het
Nsd3	A	G	8: 26,168,855 (GRCm39)	D670G	possibly damaging	Het
Or10ag56	A	T	2: 87,139,282 (GRCm39)	M50L	probably damaging	Het
Or4k49	T	A	2: 111,495,344 (GRCm39)	Y258N	probably damaging	Het
Or5e1	T	C	7: 108,354,477 (GRCm39)	V138A	probably damaging	Het
Pcdh7	T	C	5: 57,885,463 (GRCm39)	V1061A	probably benign	Het
Pdia4	A	G	6: 47,773,669 (GRCm39)	I560T	probably benign	Het
Pomt2	A	G	12: 87,157,121 (GRCm39)	F733L	probably damaging	Het
Pprc1	T	C	19: 46,061,121 (GRCm39)		probably benign	Het
Prkca	T	C	11: 108,082,943 (GRCm39)		probably benign	Het
Pspc1	A	T	14: 56,960,707 (GRCm39)	S473T	probably benign	Het
Rgs12	A	G	5: 35,147,156 (GRCm39)		probably benign	Het
Scn3a	C	T	2: 65,298,548 (GRCm39)	V1384I	probably benign	Het
Serpinb6a	C	T	13: 34,102,305 (GRCm39)	D307N	probably benign	Het
Smap2	T	C	4: 120,830,370 (GRCm39)	E255G	possibly damaging	Het
Spmip6	A	G	4: 41,517,178 (GRCm39)		probably benign	Het
St7	A	T	6: 17,854,956 (GRCm39)	I298F	probably damaging	Het
Tgm7	A	G	2: 120,934,700 (GRCm39)	F93L	probably damaging	Het
Timm23	A	T	14: 31,915,902 (GRCm39)	D56E	probably damaging	Het
Tmem170	A	T	8: 112,596,357 (GRCm39)	M56K	probably benign	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
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'- CACGCCTTGAAGTATTCAGTCAC -3'
(R):5'- TTTGCTCTGAGATTCAGTGACC -3'

Sequencing Primer
(F):5'- ATTCAGTCACCCTGGAGTTGAACG -3'
(R):5'- CTCTGAGATTCAGTGACCATGAATTC -3'

Posted On

2016-06-21