Mutagenetix > Incidental Mutation

Incidental Mutation 'R4388:Larp7-ps'

326296

Institutional Source

Beutler Lab

Gene Symbol

Larp7-ps

Ensembl Gene

ENSMUSG00000066107

Gene Name

La ribonucleoprotein 7, transcriptional regulator, pseudogene

Synonyms

Gm12666

MMRRC Submission

041125-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R4388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92078981-92079986 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92079351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 157 (S157T)

Ref Sequence

ENSEMBL: ENSMUSP00000122212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000123179]

AlphaFold

A2AMD0

Predicted Effect

probably benign
Transcript: ENSMUST00000123179
AA Change: S157T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122212
Gene: ENSMUSG00000066107
AA Change: S157T

Domain	Start	End	E-Value	Type
RRM	3	73	9.8e-9	SMART
low complexity region	87	103	N/A	INTRINSIC
low complexity region	134	153	N/A	INTRINSIC
low complexity region	179	188	N/A	INTRINSIC
low complexity region	228	246	N/A	INTRINSIC

Meta Mutation Damage Score

0.0599

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

86% (31/36)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,464,693 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,729,828 (GRCm39)	T218A	probably damaging	Het
Aldh1l2	T	C	10: 83,349,486 (GRCm39)	D254G	probably damaging	Het
Arpc4	A	G	6: 113,362,458 (GRCm39)	D36G	probably damaging	Het
Cd209b	A	G	8: 3,975,960 (GRCm39)	L67P	probably damaging	Het
Cldn20	G	A	17: 3,583,485 (GRCm39)	M219I	probably benign	Het
Dmxl2	G	A	9: 54,303,551 (GRCm39)	P2308S	probably damaging	Het
Fancd2	A	G	6: 113,533,329 (GRCm39)	I549V	probably damaging	Het
Galnt2	T	C	8: 125,022,192 (GRCm39)		probably null	Het
Galnt9	A	G	5: 110,736,257 (GRCm39)	D191G	probably damaging	Het
Hgf	T	A	5: 16,819,941 (GRCm39)	H557Q	probably benign	Het
Ifna12	T	C	4: 88,521,346 (GRCm39)	D67G	probably benign	Het
Igf1r	A	G	7: 67,819,757 (GRCm39)	I356V	probably benign	Het
Itih1	A	G	14: 30,663,512 (GRCm39)	V164A	possibly damaging	Het
Kcnc1	C	A	7: 46,047,126 (GRCm39)	R9S	possibly damaging	Het
Kmt2b	A	C	7: 30,288,015 (GRCm39)		probably benign	Het
Kmt2d	C	T	15: 98,751,507 (GRCm39)		probably benign	Het
Kng1	T	A	16: 22,898,068 (GRCm39)	H489Q	possibly damaging	Het
Map4k5	C	A	12: 69,892,583 (GRCm39)	M115I	probably damaging	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Naca	T	C	10: 127,880,661 (GRCm39)	S1898P	probably damaging	Het
Nlrp4e	A	G	7: 23,000,902 (GRCm39)	K66E	probably benign	Het
Nlrp4e	A	G	7: 23,020,652 (GRCm39)	I380V	probably benign	Het
Pex26	A	G	6: 121,161,351 (GRCm39)	D43G	probably damaging	Het
Prr14l	A	G	5: 32,986,598 (GRCm39)	S966P	probably damaging	Het
Recql4	A	G	15: 76,590,158 (GRCm39)	S659P	probably benign	Het
Serpina3n	C	A	12: 104,377,616 (GRCm39)	Q290K	probably benign	Het
Sft2d1	A	G	17: 8,539,469 (GRCm39)	K91E	possibly damaging	Het
Slc25a16	T	C	10: 62,764,105 (GRCm39)	V54A	probably benign	Het
Svep1	A	G	4: 58,069,249 (GRCm39)	Y2846H	possibly damaging	Het
Ttll2	T	A	17: 7,618,599 (GRCm39)	R443*	probably null	Het
Uty	A	G	Y: 1,151,956 (GRCm39)	S795P	possibly damaging	Het
Xrcc5	T	A	1: 72,369,189 (GRCm39)	S348T	possibly damaging	Het

Other mutations in Larp7-ps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01373:Larp7-ps	APN	4	92,079,862 (GRCm39)	missense	probably damaging	0.98
IGL01670:Larp7-ps	APN	4	92,079,737 (GRCm39)	splice site	probably null
IGL02690:Larp7-ps	APN	4	92,079,248 (GRCm39)	missense	probably damaging	0.98
IGL03052:Larp7-ps	UTSW	4	92,079,287 (GRCm39)	missense	probably benign	0.01
R2094:Larp7-ps	UTSW	4	92,079,893 (GRCm39)	missense	probably damaging	1.00
R2567:Larp7-ps	UTSW	4	92,079,560 (GRCm39)	missense	probably benign	0.10
R3438:Larp7-ps	UTSW	4	92,079,919 (GRCm39)	missense	possibly damaging	0.94
R3439:Larp7-ps	UTSW	4	92,079,919 (GRCm39)	missense	possibly damaging	0.94
R4710:Larp7-ps	UTSW	4	92,079,212 (GRCm39)	missense	possibly damaging	0.94
R5810:Larp7-ps	UTSW	4	92,079,820 (GRCm39)	critical splice donor site	probably null
R6969:Larp7-ps	UTSW	4	92,079,826 (GRCm39)	missense	probably damaging	1.00
R7486:Larp7-ps	UTSW	4	92,079,506 (GRCm39)	missense	probably benign	0.11
R9568:Larp7-ps	UTSW	4	92,079,915 (GRCm39)	nonsense	probably null
X0067:Larp7-ps	UTSW	4	92,079,571 (GRCm39)	splice site	probably null
Z1177:Larp7-ps	UTSW	4	92,079,940 (GRCm39)	missense	probably damaging	1.00
Z1177:Larp7-ps	UTSW	4	92,079,473 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TTTGTAACCTTACTGCCATGCATG -3'
(R):5'- AGTGCTTACTTAGAGTGGCCAAG -3'

Sequencing Primer
(F):5'- CCATGCATGGTACCTCTGC -3'
(R):5'- GCTTACTTAGAGTGGCCAAGTAAAC -3'

Posted On

2015-07-06